C1863236[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501779	NM_000215.4(JAK3):c.115dup (p.Gln39fs)	JAK3 (Q39fs)	Duplication (frameshift variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1100918	NM_000022.4(ADA):c.1089C>T (p.Leu363=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1113543	NM_000022.4(ADA):c.1079-6G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2122843	NM_000022.4(ADA):c.1079-7C>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 719691	NM_000022.4(ADA):c.1079-7C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GBenign
Select item 2853107	NM_000022.4(ADA):c.1079-12A>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2781558	NM_000022.4(ADA):c.1079-14G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2919659	NM_000022.4(ADA):c.1079-16C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1440624	NM_000022.4(ADA):c.1079-18C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2859758	NM_000022.4(ADA):c.1079-20T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2976394	NM_000022.4(ADA):c.1078+14T>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1901445	NM_000022.4(ADA):c.1078+8C>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1080098	NM_000022.4(ADA):c.1078+7T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2088001	NM_000022.4(ADA):c.1078+2T>C	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 2117099	NM_000022.4(ADA):c.1075G>T (p.Ala359Ser)	ADA (A335S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GUncertain significance
Select item 795038	NM_000022.4(ADA):c.1065T>C (p.Pro355=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1348668	NM_000022.4(ADA):c.1060C>T (p.Pro354Ser)	ADA (P354S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 2763451	NM_000022.4(ADA):c.1058T>A (p.Met353Lys)	ADA (M329K +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 863612	NM_000022.4(ADA):c.1054G>A (p.Gly352Arg)	ADA (G328R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1897978	NM_000022.4(ADA):c.1051dup (p.Tyr351fs)	ADA (Y327fs +2 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1091531	NM_000022.4(ADA):c.1044T>C (p.Tyr348=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1349841	NM_000022.4(ADA):c.1040_1041insAT (p.Tyr348fs)	ADA (Y213fs +2 more)	Insertion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1553544	NM_000022.4(ADA):c.1038G>A (p.Leu346=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1932338	NM_000022.4(ADA):c.1037del (p.Leu346fs)	ADA (L211fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 2748437	NM_000022.4(ADA):c.1035C>T (p.Asp345=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 664130	NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr)	ADA (D321Y +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1103954	NM_000022.4(ADA):c.1032C>T (p.Leu344=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2810806	NM_000022.4(ADA):c.1026G>A (p.Glu342=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1451616	NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)	ADA (E342* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2752236	NM_000022.4(ADA):c.1023G>A (p.Arg341=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 847778	NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)	ADA (R341fs +2 more)	Microsatellite (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 750800	NM_000022.4(ADA):c.1020G>A (p.Lys340=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2910464	NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)	ADA (K340fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2161844	NM_000022.4(ADA):c.1019del (p.Lys340fs)	ADA (K340fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2996296	NM_000022.4(ADA):c.1011A>G (p.Glu337=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2414424	NM_000022.4(ADA):c.1009G>A (p.Glu337Lys)	ADA (E202K +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1969294	NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)	ADA (E313* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 702591	NM_000022.4(ADA):c.1008A>G (p.Pro336=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1136662	NM_000022.4(ADA):c.1005C>G (p.Leu335=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1212273	NM_000022.4(ADA):c.996_997del (p.Ser333fs)	ADA (S198fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 809251	NM_000022.4(ADA):c.992A>C (p.Lys331Thr)	ADA (K196T +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GUncertain significance
Select item 1959	NM_000022.4(ADA):c.986C>T (p.Ala329Val)	ADA (A329V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenicFDA Recognized database
Select item 1500410	NM_000022.4(ADA):c.976-1_979del	ADA	Deletion (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 2138345	NM_000022.4(ADA):c.976-1G>C	ADA	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenicFDA Recognized database
Select item 2130916	NM_000022.4(ADA):c.976-2A>G	ADA	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1660848	NM_000022.4(ADA):c.976-4C>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1152655	NM_000022.4(ADA):c.976-4C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1101250	NM_000022.4(ADA):c.976-8C>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2883859	NM_000022.4(ADA):c.976-9C>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2130522	NM_000022.4(ADA):c.976-10G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2890392	NM_000022.4(ADA):c.976-14del	ADA	Deletion (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2837012	NM_000022.4(ADA):c.976-15T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2912297	NM_000022.4(ADA):c.976-17C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2916116	NM_000022.4(ADA):c.976-19G>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1972	NM_000022.4(ADA):c.976-34G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 2803663	NM_000022.4(ADA):c.975+19_975+20insG	ADA	Insertion (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2803664	NM_000022.4(ADA):c.975+18A>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2810238	NM_000022.4(ADA):c.975+15G>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1667497	NM_000022.4(ADA):c.975+14A>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2197665	NM_000022.4(ADA):c.975+13G>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2182366	NM_000022.4(ADA):c.975+13G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1673793	NM_000022.4(ADA):c.975+10T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1147100	NM_000022.4(ADA):c.975+9del	ADA	Deletion (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1493832	NM_000022.4(ADA):c.975+8G>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 703555	NM_000022.4(ADA):c.975+8G>A	ADA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1097375	NM_000022.4(ADA):c.975+7G>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2910465	NM_000022.4(ADA):c.975+2T>C	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2780445	NM_000022.4(ADA):c.975+2T>G	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 984454	NM_000022.4(ADA):c.975+1G>A	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenicFDA Recognized database
Select item 2113986	NM_000022.4(ADA):c.972G>C (p.Arg324Ser)	ADA (R189S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 860314	NM_000022.4(ADA):c.970del (p.Arg324fs)	ADA (R189fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 193544	NM_000022.4(ADA):c.956_960del (p.Glu319fs)	ADA (E184fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic
Select item 2999237	NM_000022.4(ADA):c.954T>C (p.Thr318=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 796181	NM_000022.4(ADA):c.948C>T (p.Gly316=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1352394	NM_000022.4(ADA):c.944T>C (p.Met315Thr)	ADA (M315T +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1077750	NM_000022.4(ADA):c.942C>T (p.Asp314=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 897015	NM_000022.4(ADA):c.941A>G (p.Asp314Gly)	ADA (D179G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 2199784	NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)	ADA (D290Y +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 1137877	NM_000022.4(ADA):c.939G>C (p.Arg313=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1038658	NM_000022.4(ADA):c.938G>A (p.Arg313Gln)	ADA (R178Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 703230	NM_000022.4(ADA):c.937C>A (p.Arg313=)	ADA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1507601	NM_000022.4(ADA):c.935A>G (p.Lys312Arg)	ADA (K177R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 1357028	NM_000022.4(ADA):c.934A>C (p.Lys312Gln)	ADA (K177Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 2185465	NM_000022.4(ADA):c.933C>G (p.Thr311=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 950101	NM_000022.4(ADA):c.932C>T (p.Thr311Ile)	ADA (T287I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 1626393	NM_000022.4(ADA):c.930G>A (p.Met310Ile)	ADA (M175I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 338504	NM_000022.4(ADA):c.927G>A (p.Gln309=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GConflicting classifications of pathogenicity
Select item 2957154	NM_000022.4(ADA):c.912G>A (p.Leu304=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1958	NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	ADA (L304R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1665999	NM_000022.4(ADA):c.909C>T (p.Thr303=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1664292	NM_000022.4(ADA):c.906C>T (p.Ser302=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2009484	NM_000022.4(ADA):c.902A>T (p.Lys301Met)	ADA (K166M +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 845973	NM_000022.4(ADA):c.902A>G (p.Lys301Arg)	ADA (K166R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 897016	NM_000022.4(ADA):c.899T>G (p.Phe300Cys)	ADA (F276C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significanceFDA Recognized database
Select item 968429	NM_000022.4(ADA):c.879_898del (p.Thr294fs)	ADA (T294fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2853624	NM_000022.4(ADA):c.894C>T (p.Leu298=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2878562	NM_000022.4(ADA):c.893T>G (p.Leu298Arg)	ADA (L274R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 1112497	NM_000022.4(ADA):c.891G>A (p.Pro297=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 1505857	NM_000022.4(ADA):c.890C>T (p.Pro297Leu)	ADA (P273L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenicFDA Recognized database
Select item 1961	NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	ADA (P297Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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