"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ZNF518A - ClinVar

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1963819	NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)	BLNK, ZNF518A	Single nucleotide variant (stop lost +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1913756	NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)	BLNK, ZNF518A (Y294N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1426025	NM_013314.4(BLNK):c.1351T>C (p.Tyr451His)	ZNF518A, BLNK (Y376H +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2135600	NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)	BLNK, ZNF518A (N441Y +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1360979	NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn)	BLNK, ZNF518A (S282N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1478872	NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly)	BLNK, ZNF518A (D363G +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2161874	NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)	BLNK, ZNF518A (V435I +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 1355642	NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe)	BLNK, ZNF518A (L434F +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2152467	NM_013314.4(BLNK):c.1291C>A (p.His431Asn)	BLNK, ZNF518A (H274N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1143985	NM_013314.4(BLNK):c.1287T>C (p.His429=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1135132	NM_013314.4(BLNK):c.1281G>A (p.Arg427=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1006433	NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe)	BLNK, ZNF518A (I269F +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2178962	NM_013314.4(BLNK):c.1252-3T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 730500	NM_013314.4(BLNK):c.1252-4C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1662416	NM_013314.4(BLNK):c.1252-17A>G	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2977512	NM_013314.4(BLNK):c.1251+13T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1055900	NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala)	BLNK, ZNF518A (G392A +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 750201	NM_013314.4(BLNK):c.1230C>A (p.Gly410=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 78124	NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln)	BLNK, ZNF518A (R399Q +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2170657	NM_013314.4(BLNK):c.1195C>A (p.Arg399=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1072783	NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)	BLNK, ZNF518A (R376* +1 more)	Single nucleotide variant (nonsense +2 more)	Agammaglobulinemia 4, autosomal recessive	GPathogenic
Select item 2920339	NM_013314.4(BLNK):c.1173G>A (p.Lys391=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 751678	NM_013314.4(BLNK):c.1125T>A (p.Ser375=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2744630	NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)	BLNK, ZNF518A (S351N +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1442757	NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln)	BLNK, ZNF518A (R349Q +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 439435	NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp)	ZNF518A, BLNK (R372W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2090295	NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)	BLNK, ZNF518A (I348T +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1577262	NM_013314.4(BLNK):c.1110T>C (p.Leu370=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 854980	NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr)	BLNK, ZNF518A (F346Y +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1059928	NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu)	BLNK, ZNF518A (D343E +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2896087	NM_013314.4(BLNK):c.1096-6A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2735569	NM_013314.4(BLNK):c.1096-9dup	BLNK, ZNF518A	Duplication (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 1170312	NM_013314.4(BLNK):c.1096-11A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166205	NM_013314.4(BLNK):c.1096-16A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 1671458	NM_013314.4(BLNK):c.1096-17T>A	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1593707	NM_013314.4(BLNK):c.1096-17del	ZNF518A, BLNK	Deletion (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
Select item 1116512	NM_013314.4(BLNK):c.1041T>C (p.Tyr347=)	ZNF518A, BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 966331	NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser)	BLNK, ZNF518A (P322S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1075117	NM_013314.4(BLNK):c.1031del (p.Lys344fs)	BLNK, ZNF518A (K239fs +2 more)	Deletion (frameshift variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GPathogenic
Select item 1356004	NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly)	BLNK, ZNF518A (C238G +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 568111	NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)	BLNK, ZNF518A (V341I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 762443	NM_013314.4(BLNK):c.1020C>T (p.Gly340=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2847168	NM_013314.4(BLNK):c.1012-4A>G	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2096692	NM_013314.4(BLNK):c.1012-11C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2063991	NM_013314.4(BLNK):c.1011+19A>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2765555	NM_013314.4(BLNK):c.1011+14T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2854653	NM_013314.4(BLNK):c.999T>C (p.Thr333=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2877577	NM_013314.4(BLNK):c.987A>G (p.Ser329=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1044681	NM_013314.4(BLNK):c.970C>T (p.Pro324Ser)	BLNK, ZNF518A (P301S +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 538836	NM_013314.4(BLNK):c.957A>C (p.Pro319=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2746948	NM_013314.4(BLNK):c.948G>A (p.Gly316=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1569836	NM_013314.4(BLNK):c.939T>C (p.Phe313=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1417785	NM_013314.4(BLNK):c.935-3C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1651907	NM_013314.4(BLNK):c.934+12G>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2740830	NM_013314.4(BLNK):c.934+11C>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2110143	NM_013314.4(BLNK):c.934+8C>T	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1379283	NM_013314.4(BLNK):c.932C>T (p.Pro311Leu)	BLNK, ZNF518A (P288L +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 858725	NM_013314.4(BLNK):c.926C>A (p.Pro309His)	BLNK, ZNF518A (P286H +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 439436	NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)	BLNK, ZNF518A (P309L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 444234	NM_013314.4(BLNK):c.923T>C (p.Ile308Thr)	ZNF518A, BLNK (I308T +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GLikely benign
Select item 1965155	NM_013314.4(BLNK):c.903A>G (p.Lys301=)	ZNF518A, BLNK	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2808282	NM_013314.4(BLNK):c.903-7C>T	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1661038	NM_013314.4(BLNK):c.903-10T>C	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1618934	NM_013314.4(BLNK):c.903-11C>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2044560	NM_013314.4(BLNK):c.903-19C>T	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 3015625	NM_013314.4(BLNK):c.902+15C>G	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1079619	NM_013314.4(BLNK):c.902+9C>G	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2733760	NM_013314.4(BLNK):c.896C>T (p.Ala299Val)	BLNK, ZNF518A (A194V +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1907147	NM_013314.4(BLNK):c.893C>T (p.Pro298Leu)	BLNK, ZNF518A (P193L +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2063143	NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)	BLNK, ZNF518A (P189L +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1542824	NM_013314.4(BLNK):c.873G>T (p.Val291=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 2982626	NM_013314.4(BLNK):c.869C>T (p.Ala290Val)	BLNK, ZNF518A (A290V +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 1082650	NM_013314.4(BLNK):c.858C>T (p.His286=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 639984	NM_013314.4(BLNK):c.845G>A (p.Arg282Gln)	BLNK, ZNF518A (R177Q +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 1945759	NM_013314.4(BLNK):c.839G>A (p.Arg280His)	ZNF518A, BLNK (R175H +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2721723	NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)	BLNK, ZNF518A (E256Q +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 835245	NM_013314.4(BLNK):c.829C>T (p.Pro277Ser)	BLNK, ZNF518A (P172S +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
Select item 2985286	NM_013314.4(BLNK):c.818-12T>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1062671	NC_000010.10:g.(?_97366499)_(98031175_?)dup	ENTPD1, TCTN3 +6 more	Duplication	Agammaglobulinemia 4, autosomal recessive	GUncertain significance

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Items: 79