ClinVar for Gene (Select 113146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3056031	NM_138420.4(AHNAK2):c.151C>T (p.Arg51Trp)	AHNAK2 (R51W)	Single nucleotide variant (5 prime UTR variant +1 more)	AHNAK2-related condition	GBenign
Select item 3045389	NM_138420.4(AHNAK2):c.627C>T (p.His209=)	AHNAK2	Single nucleotide variant (synonymous variant)	AHNAK2-related condition	GLikely benign
Select item 3025999	NM_138420.4(AHNAK2):c.2090C>T (p.Ser697Leu)	AHNAK2 (S597L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025876	NM_138420.4(AHNAK2):c.15202G>A (p.Gly5068Ser)	AHNAK2 (G4968S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025793	NM_138420.4(AHNAK2):c.13453T>C (p.Ser4485Pro)	AHNAK2 (S4385P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3025727	NM_138420.4(AHNAK2):c.7012G>A (p.Glu2338Lys)	AHNAK2 (E2238K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025527	NM_138420.4(AHNAK2):c.8346C>T (p.Asp2782=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025477	NM_138420.4(AHNAK2):c.3920G>A (p.Gly1307Asp)	AHNAK2 (G1207D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025417	NM_138420.4(AHNAK2):c.4020G>A (p.Val1340=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025416	NM_138420.4(AHNAK2):c.7415C>T (p.Ala2472Val)	AHNAK2 (A2372V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025384	NM_138420.4(AHNAK2):c.6535T>C (p.Ser2179Pro)	AHNAK2 (S2079P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3025038	NM_138420.4(AHNAK2):c.3627T>G (p.Thr1209=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024994	NM_138420.4(AHNAK2):c.4710C>T (p.Ala1570=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024917	NM_138420.4(AHNAK2):c.10446C>A (p.Ser3482=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024811	NM_138420.4(AHNAK2):c.10296G>T (p.Val3432=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	ADSS1, AHNAK2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2672577	NM_138420.4(AHNAK2):c.2242C>G (p.Leu748Val)	AHNAK2 (L648V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672576	NM_138420.4(AHNAK2):c.5209T>A (p.Phe1737Ile)	AHNAK2 (F1637I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672575	NM_138420.4(AHNAK2):c.5305G>T (p.Asp1769Tyr)	AHNAK2 (D1669Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672574	NM_138420.4(AHNAK2):c.5421T>G (p.Gly1807=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2672573	NM_138420.4(AHNAK2):c.6559A>C (p.Met2187Leu)	AHNAK2 (M2087L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672572	NM_138420.4(AHNAK2):c.7471C>A (p.Pro2491Thr)	AHNAK2 (P2391T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644898	NM_138420.4(AHNAK2):c.273T>C (p.Asp91=)	AHNAK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2644897	NM_138420.4(AHNAK2):c.288G>C (p.Arg96=)	AHNAK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2644896	NM_138420.4(AHNAK2):c.442G>A (p.Ala148Thr)	AHNAK2 (A148T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644895	NM_138420.4(AHNAK2):c.615C>T (p.Ser205=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644894	NM_138420.4(AHNAK2):c.819G>A (p.Pro273=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644893	NM_138420.4(AHNAK2):c.855C>T (p.Tyr285=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644892	NM_138420.4(AHNAK2):c.1208G>A (p.Arg403Lys)	AHNAK2 (R303K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644891	NM_138420.4(AHNAK2):c.1254G>T (p.Arg418Ser)	AHNAK2 (R318S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644890	NM_138420.4(AHNAK2):c.1616C>T (p.Pro539Leu)	AHNAK2 (P439L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644889	NM_138420.4(AHNAK2):c.1654G>A (p.Asp552Asn)	AHNAK2 (D452N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644888	NM_138420.4(AHNAK2):c.2064A>G (p.Ser688=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644887	NM_138420.4(AHNAK2):c.2091G>A (p.Ser697=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644886	NM_138420.4(AHNAK2):c.2109G>A (p.Pro703=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644885	NM_138420.4(AHNAK2):c.2124C>T (p.Asp708=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644884	NM_138420.4(AHNAK2):c.2207A>C (p.Asp736Ala)	AHNAK2 (D636A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644883	NM_138420.4(AHNAK2):c.2241C>T (p.Pro747=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644882	NM_138420.4(AHNAK2):c.2418G>A (p.Pro806=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644881	NM_138420.4(AHNAK2):c.2428C>T (p.Leu810=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644880	NM_138420.4(AHNAK2):c.2441G>A (p.Arg814Gln)	AHNAK2 (R714Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644879	NM_138420.4(AHNAK2):c.2556G>C (p.Met852Ile)	AHNAK2 (M752I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644878	NM_138420.4(AHNAK2):c.2608T>C (p.Ser870Pro)	AHNAK2 (S770P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644877	NM_138420.4(AHNAK2):c.2698A>G (p.Lys900Glu)	AHNAK2 (K800E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644876	NM_138420.4(AHNAK2):c.2703T>C (p.Leu901=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644875	NM_138420.4(AHNAK2):c.2767A>C (p.Ser923Arg)	AHNAK2 (S823R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644874	NM_138420.4(AHNAK2):c.2799C>G (p.Gly933=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644873	NM_138420.4(AHNAK2):c.2870G>T (p.Gly957Val)	AHNAK2 (G857V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644872	NM_138420.4(AHNAK2):c.2946G>A (p.Gly982=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644871	NM_138420.4(AHNAK2):c.2970C>T (p.Asp990=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644870	NM_138420.4(AHNAK2):c.2990A>G (p.Lys997Arg)	AHNAK2 (K897R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644869	NM_138420.4(AHNAK2):c.3030A>G (p.Val1010=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644868	NM_138420.4(AHNAK2):c.3033G>A (p.Ser1011=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644867	NM_138420.4(AHNAK2):c.3042G>C (p.Gly1014=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644866	NM_138420.4(AHNAK2):c.3069G>A (p.Val1023=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644865	NM_138420.4(AHNAK2):c.3081G>A (p.Lys1027=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644864	NM_138420.4(AHNAK2):c.3094C>A (p.Leu1032Met)	AHNAK2 (L1032M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644863	NM_138420.4(AHNAK2):c.3099T>C (p.Ser1033=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644862	NM_138420.4(AHNAK2):c.3123G>C (p.Leu1041=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644861	NM_138420.4(AHNAK2):c.3210C>T (p.His1070=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644860	NM_138420.4(AHNAK2):c.3249G>A (p.Lys1083=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644859	NM_138420.4(AHNAK2):c.3255G>A (p.Glu1085=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644858	NM_138420.4(AHNAK2):c.3270G>A (p.Lys1090=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644857	NM_138420.4(AHNAK2):c.3321G>A (p.Lys1107=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644856	NM_138420.4(AHNAK2):c.3343G>A (p.Ala1115Thr)	AHNAK2 (A1015T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644855	NM_138420.4(AHNAK2):c.3372G>T (p.Val1124=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644854	NM_138420.4(AHNAK2):c.3400G>C (p.Glu1134Gln)	AHNAK2 (E1034Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644853	NM_138420.4(AHNAK2):c.3407C>T (p.Pro1136Leu)	AHNAK2 (P1036L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644852	NM_138420.4(AHNAK2):c.3408G>A (p.Pro1136=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644851	NM_138420.4(AHNAK2):c.3428C>G (p.Ala1143Gly)	AHNAK2 (A1043G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644850	NM_138420.4(AHNAK2):c.3525G>A (p.Ala1175=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644849	NM_138420.4(AHNAK2):c.3526T>A (p.Ser1176Thr)	AHNAK2 (S1076T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644848	NM_138420.4(AHNAK2):c.3534A>T (p.Pro1178=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644847	NM_138420.4(AHNAK2):c.3555G>A (p.Ser1185=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644846	NM_138420.4(AHNAK2):c.3557T>C (p.Val1186Ala)	AHNAK2 (V1086A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644845	NM_138420.4(AHNAK2):c.3589G>C (p.Val1197Leu)	AHNAK2 (V1097L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644844	NM_138420.4(AHNAK2):c.3598C>T (p.Pro1200Ser)	AHNAK2 (P1100S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644843	NM_138420.4(AHNAK2):c.3600C>T (p.Pro1200=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644842	NM_138420.4(AHNAK2):c.3704A>C (p.His1235Pro)	AHNAK2 (H1135P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644841	NM_138420.4(AHNAK2):c.3705C>T (p.His1235=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644840	NM_138420.4(AHNAK2):c.3708G>T (p.Val1236=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644839	NM_138420.4(AHNAK2):c.3850_3856del (p.Ala1284fs)	AHNAK2 (A1184fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2644838	NM_138420.4(AHNAK2):c.4032C>G (p.Gly1344=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644837	NM_138420.4(AHNAK2):c.4049C>T (p.Ser1350Phe)	AHNAK2 (S1250F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644836	NM_138420.4(AHNAK2):c.4065A>G (p.Ala1355=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644835	NM_138420.4(AHNAK2):c.4068C>G (p.Pro1356=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644834	NM_138420.4(AHNAK2):c.4203G>T (p.Val1401=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644833	NM_138420.4(AHNAK2):c.4282G>C (p.Gly1428Arg)	AHNAK2 (G1328R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644832	NM_138420.4(AHNAK2):c.4290A>G (p.Glu1430=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644831	NM_138420.4(AHNAK2):c.4320A>G (p.Leu1440=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644830	NM_138420.4(AHNAK2):c.4485G>T (p.Met1495Ile)	AHNAK2 (M1395I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644829	NM_138420.4(AHNAK2):c.4503G>C (p.Pro1501=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644828	NM_138420.4(AHNAK2):c.4506G>C (p.Ser1502=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644827	NM_138420.4(AHNAK2):c.4527C>G (p.Gly1509=)	AHNAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644826	NM_138420.4(AHNAK2):c.4537G>A (p.Glu1513Lys)	AHNAK2 (E1413K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644825	NM_138420.4(AHNAK2):c.4547T>C (p.Val1516Ala)	AHNAK2 (V1416A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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