Related gene-specific medical variations for Gene (Select 29760) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067561	NM_013314.4(BLNK):c.1252-1139T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065608	NM_013314.4(BLNK):c.145C>T (p.Arg49Ter)	BLNK (R49*)	Single nucleotide variant (nonsense +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely pathogenic
Select item 3015625	NM_013314.4(BLNK):c.902+15C>G	ZNF518A, BLNK	Single nucleotide variant (non-coding transcript variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
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 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 2977512	NM_013314.4(BLNK):c.1251+13T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
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 2896087	NM_013314.4(BLNK):c.1096-6A>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	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 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 2847168	NM_013314.4(BLNK):c.1012-4A>G	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
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 2765555	NM_013314.4(BLNK):c.1011+14T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	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 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 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 2735569	NM_013314.4(BLNK):c.1096-9dup	BLNK, ZNF518A	Duplication (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
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 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 2271534	NM_013314.4(BLNK):c.1034C>T (p.Pro345Leu)	ZNF518A, BLNK (P345L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260935	NM_013314.4(BLNK):c.1319A>G (p.Gln440Arg)	BLNK, ZNF518A (Q283R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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	GUncertain significance
Select item 2152467	NM_013314.4(BLNK):c.1291C>A (p.His431Asn)	ZNF518A, BLNK (H274N +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 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 2096692	NM_013314.4(BLNK):c.1012-11C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
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 2063991	NM_013314.4(BLNK):c.1011+19A>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
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 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 1965155	NM_013314.4(BLNK):c.903A>G (p.Lys301=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
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 1945759	NM_013314.4(BLNK):c.839G>A (p.Arg280His)	BLNK, ZNF518A (R175H +2 more)	Single nucleotide variant (missense variant +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 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 1671458	NM_013314.4(BLNK):c.1096-17T>A	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 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 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 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 1593707	NM_013314.4(BLNK):c.1096-17del	BLNK, ZNF518A	Deletion (intron variant)	Agammaglobulinemia 4, autosomal recessive	GBenign
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 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 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 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 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 1426025	NM_013314.4(BLNK):c.1351T>C (p.Tyr451His)	BLNK, ZNF518A (Y376H +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
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 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 1360979	NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn)	BLNK, ZNF518A (S282N +4 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
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 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 1287107	NM_013314.4(BLNK):c.935-179C>T	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281552	NM_013314.4(BLNK):c.902+27G>C	BLNK, ZNF518A	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1274806	NM_013314.4(BLNK):c.1095+65_1095+67del	BLNK, ZNF518A	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 1274728	NM_013314.4(BLNK):c.1095+195G>A	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271226	NM_013314.4(BLNK):c.902+131T>C	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1269653	NM_013314.4(BLNK):c.935-141C>A	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262932	NM_013314.4(BLNK):c.902+134G>A	BLNK, ZNF518A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1242258	NM_013314.4(BLNK):c.934+274del	BLNK, ZNF518A	Deletion (intron variant)	not provided	GBenign
Select item 1234087	NM_013314.4(BLNK):c.1096-83G>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226740	NM_013314.4(BLNK):c.1012-155T>C	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224035	NM_013314.4(BLNK):c.1252-234_1252-231del	BLNK, ZNF518A	Deletion (intron variant)	not provided	GBenign
Select item 1220868	NM_013314.4(BLNK):c.935-235G>A	BLNK, ZNF518A	Single nucleotide variant (intron variant)	not provided	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 1163330	NM_013314.4(BLNK):c.998C>G (p.Thr333Ser)	BLNK, ZNF518A (T228S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1116512	NM_013314.4(BLNK):c.1041T>C (p.Tyr347=)	BLNK, ZNF518A	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
Select item 1082650	NM_013314.4(BLNK):c.858C>T (p.His286=)	ZNF518A, BLNK	Single nucleotide variant (synonymous 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 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 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 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 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 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 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 966331	NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser)	BLNK, ZNF518A (P322S +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 858725	NM_013314.4(BLNK):c.926C>A (p.Pro309His)	ZNF518A, BLNK (P286H +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive	GUncertain significance
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 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 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 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 750201	NM_013314.4(BLNK):c.1230C>A (p.Gly410=)	ZNF518A, BLNK	Single nucleotide variant (synonymous variant +2 more)	Agammaglobulinemia 4, autosomal recessive	GLikely benign
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 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 568111	NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)	ZNF518A, BLNK (V341I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 444234	NM_013314.4(BLNK):c.923T>C (p.Ile308Thr)	BLNK, ZNF518A (I308T +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GLikely benign
Select item 439436	NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)	BLNK, ZNF518A (P309L +2 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
Select item 439435	NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp)	BLNK, ZNF518A (R372W +1 more)	Single nucleotide variant (missense variant +2 more)	Agammaglobulinemia 4, autosomal recessive +1 more	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 95