ClinVar for Gene (Select 65267) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245395	NC_000023.10:g.(?_53222149)_(54521865_?)dup	FAM120C, FGD1 +11 more	Duplication	Intellectual disability, X-linked 1	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235725	NM_020922.5(WNK3):c.3351A>C (p.Leu1117Phe)	WNK3 (L1117F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3190676	NM_020922.5(WNK3):c.5362T>C (p.Ser1788Pro)	WNK3 (S1731P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190675	NM_020922.5(WNK3):c.5167T>C (p.Ser1723Pro)	WNK3 (S1666P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190674	NM_020922.5(WNK3):c.4757C>G (p.Pro1586Arg)	WNK3 (P1539R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190673	NM_020922.5(WNK3):c.4160C>T (p.Thr1387Ile)	WNK3 (T1387I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190672	NM_020922.5(WNK3):c.4064T>C (p.Ile1355Thr)	WNK3 (I1308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190669	NM_020922.5(WNK3):c.3272C>T (p.Thr1091Ile)	WNK3 (T1091I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190668	NM_020922.5(WNK3):c.3067G>A (p.Glu1023Lys)	WNK3 (E1023K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190667	NM_020922.5(WNK3):c.2786G>A (p.Arg929His)	WNK3 (R929H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190666	NM_020922.5(WNK3):c.2500A>G (p.Thr834Ala)	WNK3 (T834A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190665	NM_020922.5(WNK3):c.2463C>G (p.His821Gln)	WNK3 (H821Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190664	NM_020922.5(WNK3):c.2393G>C (p.Ser798Thr)	WNK3 (S798T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190663	NM_020922.5(WNK3):c.2099G>C (p.Arg700Pro)	WNK3 (R700P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190662	NM_020922.5(WNK3):c.1516C>T (p.Arg506Cys)	WNK3 (R506C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190661	NM_020922.5(WNK3):c.1459C>T (p.Arg487Trp)	WNK3 (R487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190660	NM_020922.5(WNK3):c.1255G>A (p.Asp419Asn)	WNK3 (D419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3024305	NM_020922.5(WNK3):c.322_323del (p.Gln108fs)	WNK3 (Q108fs)	Deletion (frameshift variant)	Prieto syndrome	GUncertain significance
Select item 2798980	NM_020922.5(WNK3):c.2704C>G (p.Pro902Ala)	WNK3 (P902A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751298	NM_020922.5(WNK3):c.2853T>A (p.Ser951Arg)	WNK3 (S951R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685748	GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685088	GRCh37/hg19 Xp11.22(chrX:53954419-54291347)x0	FAM120C, PHF8 +1 more	Copy number loss	not provided	GPathogenic
Select item 2684987	GRCh37/hg19 Xp11.22(chrX:53898297-54448265)x3	FAM120C, PHF8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2682360	NM_020922.5(WNK3):c.3665A>C (p.Asp1222Ala)	WNK3 (D1222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671606	Single allele	FAM120C, FGD1 +4 more	Duplication	not provided	GUncertain significance
Select item 2662846	NM_020922.5(WNK3):c.3778C>A (p.Leu1260Ile)	WNK3 (L1260I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662484	NM_020922.5(WNK3):c.2369T>C (p.Val790Ala)	WNK3 (V790A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660660	NM_020922.5(WNK3):c.1999G>A (p.Val667Ile)	WNK3 (V667I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660659	NM_020922.5(WNK3):c.3681G>A (p.Gly1227=)	WNK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660658	NM_020922.5(WNK3):c.3914C>T (p.Ala1305Val)	WNK3 (A1258V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660657	NM_020922.5(WNK3):c.5243C>T (p.Ala1748Val)	WNK3 (A1691V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2626958	NM_020922.5(WNK3):c.831G>A (p.Lys277=)	WNK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2622445	NM_020922.5(WNK3):c.2888T>A (p.Val963Glu)	WNK3 (V963E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605508	NM_020922.5(WNK3):c.2995A>G (p.Ser999Gly)	WNK3 (S999G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590281	NM_020922.5(WNK3):c.3323A>C (p.Asn1108Thr)	WNK3 (N1108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582017	NM_020922.5(WNK3):c.4999A>C (p.Ile1667Leu)	WNK3 (I1610L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581961	NM_020922.5(WNK3):c.4268G>T (p.Ser1423Ile)	WNK3 (S1376I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581955	NM_020922.5(WNK3):c.2275G>A (p.Val759Ile)	WNK3 (V759I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578061	NM_020922.5(WNK3):c.4129A>G (p.Lys1377Glu)	WNK3 (K1330E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576850	NM_020922.5(WNK3):c.4928A>C (p.Lys1643Thr)	WNK3 (K1586T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570654	NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)	WNK3 (R1287fs +1 more)	Duplication (frameshift variant)	Motor stereotypies +8 more	GLikely pathogenic
Select item 2557504	NM_020922.5(WNK3):c.5183C>T (p.Pro1728Leu)	WNK3 (P1671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543529	NM_020922.5(WNK3):c.4720A>T (p.Thr1574Ser)	WNK3 (T1527S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526954	NM_020922.5(WNK3):c.1885G>A (p.Gly629Arg)	WNK3 (G629R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526026	NM_020922.5(WNK3):c.4988G>A (p.Gly1663Glu)	WNK3 (G1606E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507061	NM_020922.5(WNK3):c.1815G>T (p.Gln605His)	WNK3 (Q605H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504324	NM_020922.5(WNK3):c.4571A>T (p.Asp1524Val)	WNK3 (D1477V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503244	NM_020922.5(WNK3):c.140C>G (p.Ser47Cys)	WNK3 (S47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503142	NM_020922.5(WNK3):c.1A>G (p.Met1Val)	WNK3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502478	NM_020922.5(WNK3):c.4487G>A (p.Cys1496Tyr)	WNK3 (C1449Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495755	NM_020922.5(WNK3):c.4083C>G (p.Phe1361Leu)	WNK3 (F1361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468128	NM_020922.5(WNK3):c.2480C>A (p.Ala827Asp)	WNK3 (A827D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465830	NM_020922.5(WNK3):c.4763G>A (p.Arg1588Gln)	WNK3 (R1588Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454925	NM_020922.5(WNK3):c.5329C>T (p.Pro1777Ser)	WNK3 (P1720S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429596	NM_020922.5(WNK3):c.2507A>C (p.Asp836Ala)	WNK3 (D836A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2412965	NM_020922.5(WNK3):c.1075C>T (p.Arg359Trp)	WNK3 (R359W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404900	NM_020922.5(WNK3):c.257A>G (p.Asn86Ser)	WNK3 (N86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389605	NM_020922.5(WNK3):c.1916C>T (p.Pro639Leu)	WNK3 (P639L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382361	NM_020922.5(WNK3):c.4683G>C (p.Glu1561Asp)	WNK3 (E1514D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375812	NM_020922.5(WNK3):c.2497A>G (p.Ile833Val)	WNK3 (I833V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361452	NM_020922.5(WNK3):c.5087C>A (p.Thr1696Asn)	WNK3 (T1696N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358205	NM_020922.5(WNK3):c.2257A>G (p.Thr753Ala)	WNK3 (T753A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345231	NM_020922.5(WNK3):c.4790G>A (p.Arg1597Gln)	WNK3 (R1550Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341531	NM_020922.5(WNK3):c.197C>T (p.Thr66Met)	WNK3 (T66M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340520	NM_020922.5(WNK3):c.3898A>G (p.Met1300Val)	WNK3 (M1300V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333216	NM_020922.5(WNK3):c.3890C>T (p.Thr1297Ile)	WNK3 (T1250I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322014	NM_020922.5(WNK3):c.2651C>G (p.Thr884Ser)	WNK3 (T884S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308658	NM_020922.5(WNK3):c.4796G>A (p.Arg1599His)	WNK3 (R1552H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305140	NM_020922.5(WNK3):c.4281G>T (p.Glu1427Asp)	WNK3 (E1380D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304841	NM_020922.5(WNK3):c.3937C>T (p.Arg1313Trp)	WNK3 (R1313W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300534	NM_020922.5(WNK3):c.3454A>G (p.Thr1152Ala)	WNK3 (T1152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298022	NM_020922.5(WNK3):c.2221G>T (p.Gly741Trp)	WNK3 (G741W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296742	NM_020922.5(WNK3):c.4169C>G (p.Pro1390Arg)	WNK3 (P1390R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294087	NM_020922.5(WNK3):c.4871A>T (p.Asn1624Ile)	WNK3 (N1624I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293509	NM_020922.5(WNK3):c.3113A>G (p.Asp1038Gly)	WNK3 (D1038G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273390	NM_020922.5(WNK3):c.4479T>A (p.Ser1493Arg)	WNK3 (S1493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253788	NM_020922.5(WNK3):c.4907A>G (p.Gln1636Arg)	WNK3 (Q1579R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251860	NM_020922.5(WNK3):c.3469G>A (p.Val1157Met)	WNK3 (V1157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250202	NM_020922.5(WNK3):c.1711G>A (p.Ala571Thr)	WNK3 (A571T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242178	NM_020922.5(WNK3):c.4372A>G (p.Lys1458Glu)	WNK3 (K1411E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205103	NM_020922.5(WNK3):c.4219A>G (p.Lys1407Glu)	WNK3 (K1407E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1984120	NM_020922.5(WNK3):c.3938G>A (p.Arg1313Gln)	WNK3 (R1266Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969286	NM_020922.5(WNK3):c.4694G>A (p.Arg1565His)	WNK3 (R1565H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809375	GRCh37/hg19 Xp11.22(chrX:54184241-54786514)x3	FAM120C, FGD1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808241	GRCh37/hg19 Xp11.22-11.21(chrX:53854115-54953273)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807829	GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3	ALAS2, AMER1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526801	GRCh37/hg19 Xp11.22(chrX:53797930-54608609)	FAM120C, FGD1 +4 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526799	GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871)	ALAS2, APEX2 +33 more	Copy number gain	not specified	GLikely pathogenic
Select item 1411202	NC_000023.10:g.(?_53222149)_(54497940_?)dup	FAM120C, FGD1 +11 more	Duplication	not provided	GUncertain significance

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