C1833275[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 2696185	NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)	JAK3	Insertion (nonsense +1 more)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 646334	NM_000215.4(JAK3):c.3371C>T (p.Ser1124Leu)	JAK3 (S1124L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 732476	NM_000215.4(JAK3):c.3366C>T (p.Ser1122=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1079751	NM_000215.4(JAK3):c.3360C>G (p.Ser1120=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 640630	NM_000215.4(JAK3):c.3356A>G (p.His1119Arg)	JAK3 (H1119R)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1579677	NM_000215.4(JAK3):c.3345G>A (p.Glu1115=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2096020	NM_000215.4(JAK3):c.3340C>T (p.Pro1114Ser)	JAK3 (P1114S)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1352749	NM_000215.4(JAK3):c.3337C>T (p.His1113Tyr)	JAK3 (H1113Y)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1995590	NM_000215.4(JAK3):c.3317A>G (p.Glu1106Gly)	JAK3 (E1106G)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2998330	NM_000215.4(JAK3):c.3312G>T (p.Gly1104=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2711929	NM_000215.4(JAK3):c.3312G>A (p.Gly1104=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1359421	NM_000215.4(JAK3):c.3308G>A (p.Arg1103Gln)	JAK3 (R1103Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 532757	NM_000215.4(JAK3):c.3300C>T (p.Ser1100=)	JAK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 892391	NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu)	JAK3 (M1097L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1548912	NM_000215.4(JAK3):c.3282G>A (p.Gln1094=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2787294	NM_000215.4(JAK3):c.3279C>T (p.Pro1093=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1671453	NM_000215.4(JAK3):c.3276C>T (p.Gly1092=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1136088	NM_000215.4(JAK3):c.3276C>A (p.Gly1092=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2917028	NM_000215.4(JAK3):c.3275G>A (p.Gly1092Asp)	JAK3 (G1092D)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2891836	NM_000215.4(JAK3):c.3274G>A (p.Gly1092Ser)	JAK3 (G1092S)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2973138	NM_000215.4(JAK3):c.3270C>T (p.Ala1090=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2826233	NM_000215.4(JAK3):c.3270C>A (p.Ala1090=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 134579	NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)	JAK3 (A1090T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenignFDA Recognized database
Select item 706218	NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GConflicting classifications of pathogenicity
Select item 1497167	NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln)	JAK3 (R1085Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GUncertain significance
Select item 495735	NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp)	JAK3 (R1085W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2897982	NM_000215.4(JAK3):c.3252C>T (p.Asp1084=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2801557	NM_000215.4(JAK3):c.3225G>A (p.Lys1075=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 861674	NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe)	JAK3 (L1073F)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1475913	NM_000215.4(JAK3):c.3214G>C (p.Glu1072Gln)	JAK3 (E1072Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 861116	NM_000215.4(JAK3):c.3214G>A (p.Glu1072Lys)	JAK3 (E1072K)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 532754	NM_000215.4(JAK3):c.3213C>T (p.His1071=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GConflicting classifications of pathogenicity
Select item 1174743	NM_000215.4(JAK3):c.3208-1G>A	JAK3	Single nucleotide variant (splice acceptor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic/Likely pathogenic
Select item 2805708	NM_000215.4(JAK3):c.3208-9G>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1113147	NM_000215.4(JAK3):c.3208-9G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1564860	NM_000215.4(JAK3):c.3208-10C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2798720	NM_000215.4(JAK3):c.3208-11C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2175744	NM_000215.4(JAK3):c.3208-12C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1667044	NM_000215.4(JAK3):c.3208-16G>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2823533	NM_000215.4(JAK3):c.3208-18C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2843756	NM_000215.4(JAK3):c.3207+17dup	JAK3	Duplication (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1558740	NM_000215.4(JAK3):c.3207+10G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2986018	NM_000215.4(JAK3):c.3207+9C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2153672	NM_000215.4(JAK3):c.3207+9C>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1913971	NM_000215.4(JAK3):c.3207G>A (p.Glu1069=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1479499	NM_000215.4(JAK3):c.3204T>A (p.Ala1068=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2918833	NM_000215.4(JAK3):c.3201T>G (p.Pro1067=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 840904	NM_000215.4(JAK3):c.3200C>T (p.Pro1067Leu)	JAK3 (P1067L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1617061	NM_000215.4(JAK3):c.3189T>A (p.Pro1063=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2769161	NM_000215.4(JAK3):c.3183G>A (p.Pro1061=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 328497	NM_000215.4(JAK3):c.3183G>T (p.Pro1061=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GConflicting classifications of pathogenicity
Select item 1673063	NM_000215.4(JAK3):c.3174G>A (p.Gln1058=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 766561	NM_000215.4(JAK3):c.3165G>A (p.Glu1055=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2174061	NM_000215.4(JAK3):c.3164A>G (p.Glu1055Gly)	JAK3 (E1055G)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1718385	NM_000215.4(JAK3):c.3161T>C (p.Leu1054Pro)	JAK3 (L1054P)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2009566	NM_000215.4(JAK3):c.3160C>A (p.Leu1054Met)	JAK3 (L1054M)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2967657	NM_000215.4(JAK3):c.3159G>T (p.Leu1053=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3010376	NM_000215.4(JAK3):c.3151T>C (p.Leu1051=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1392573	NM_000215.4(JAK3):c.3146G>T (p.Arg1049Leu)	JAK3 (R1049L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1662777	NM_000215.4(JAK3):c.3144C>T (p.Cys1048=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2784104	NM_000215.4(JAK3):c.3141C>G (p.Leu1047=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2883466	NM_000215.4(JAK3):c.3135C>T (p.Pro1045=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2849841	NM_000215.4(JAK3):c.3123G>A (p.Glu1041=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2907483	NM_000215.4(JAK3):c.3113T>C (p.Met1038Thr)	JAK3 (M1038T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2838707	NM_000215.4(JAK3):c.3108G>A (p.Arg1036=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1396409	NM_000215.4(JAK3):c.3104T>A (p.Leu1035Gln)	JAK3 (L1035Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 523047	NM_000215.4(JAK3):c.3103del (p.Leu1035fs)	JAK3 (L1035fs)	Deletion (frameshift variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2800220	NM_000215.4(JAK3):c.3097-12C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2819778	NM_000215.4(JAK3):c.3097-15C>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2961123	NM_000215.4(JAK3):c.3097-17C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2707305	NM_000215.4(JAK3):c.3097-18G>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2886952	NM_000215.4(JAK3):c.3096+20C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1591517	NM_000215.4(JAK3):c.3096+20C>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2820167	NM_000215.4(JAK3):c.3096+19G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 36421	NM_000215.4(JAK3):c.3096+18A>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +3 more	GBenign
Select item 2768686	NM_000215.4(JAK3):c.3096+15C>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2726270	NM_000215.4(JAK3):c.3096+10C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2762505	NM_000215.4(JAK3):c.3096+9G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 761029	NM_000215.4(JAK3):c.3096+8G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 728554	NM_000215.4(JAK3):c.3096+8G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 940767	NM_000215.4(JAK3):c.3094G>A (p.Ala1032Thr)	JAK3 (A1032T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2857792	NM_000215.4(JAK3):c.3087C>T (p.Ser1029=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1439984	NM_000215.4(JAK3):c.3087C>G (p.Ser1029Arg)	JAK3 (S1029R)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1705246	NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)	JAK3 (S1029fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 796950	NM_000215.4(JAK3):c.3084C>T (p.Cys1028=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2764602	NM_000215.4(JAK3):c.3071_3072delinsAA (p.Cys1024Ter)	JAK3 (C1024*)	Indel (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 855164	NM_000215.4(JAK3):c.3067T>C (p.Tyr1023His)	JAK3 (Y1023H)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2909794	NM_000215.4(JAK3):c.3066C>G (p.Thr1022=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1616434	NM_000215.4(JAK3):c.3066C>T (p.Thr1022=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3007997	NM_000215.4(JAK3):c.3048C>T (p.Val1016=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2961928	NM_000215.4(JAK3):c.3045C>T (p.Val1015=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2972060	NM_000215.4(JAK3):c.3039C>T (p.Phe1013=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1453819	NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter)	JAK3 (W1011*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 2883719	NM_000215.4(JAK3):c.3027C>T (p.Asp1009=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 1119804	NM_000215.4(JAK3):c.3021G>A (p.Gln1007=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2736842	NM_000215.4(JAK3):c.3008TCT[1] (p.Phe1004del)	JAK3 (F1004del)	Microsatellite (inframe_deletion)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3014398	NM_000215.4(JAK3):c.3012C>T (p.Phe1004=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2048132	NM_000215.4(JAK3):c.3002ACA[1] (p.Asn1002del)	JAK3 (N1002del)	Microsatellite (inframe_deletion)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1164943	NM_000215.4(JAK3):c.3007A>G (p.Ile1003Val)	JAK3 (I1003V)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign
Select item 1716968	NM_000215.4(JAK3):c.2996T>C (p.Leu999Pro)	JAK3 (L999P)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance

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