ClinVar for Gene (Select 203447) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391958	GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1	ACSL4, ACTRT1 +191 more	Copy number loss	not provided	GPathogenic
Select item 3391957	GRCh37/hg19 Xq21.31-23(chrX:91004293-111532472)x1	ACSL4, ALG13 +108 more	Copy number loss	not provided	GPathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3355560	NM_198465.4(NRK):c.4480C>T (p.Leu1494Phe)	NRK (L1494F)	Single nucleotide variant (missense variant)	NRK-related condition	GLikely benign
Select item 3344935	NM_198465.4(NRK):c.3577T>A (p.Ser1193Thr)	NRK (S1193T)	Single nucleotide variant (missense variant)	NRK-related condition	GUncertain significance
Select item 3338230	NM_198465.4(NRK):c.4375C>T (p.Gln1459Ter)	NRK (Q1459*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 3301066	NM_198465.4(NRK):c.940C>T (p.Arg314Trp)	NRK (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301065	NM_198465.4(NRK):c.3433G>A (p.Ala1145Thr)	NRK (A1145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301064	NM_198465.4(NRK):c.1405C>G (p.Pro469Ala)	NRK (P469A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301062	NM_198465.4(NRK):c.1870G>C (p.Ala624Pro)	NRK (A624P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301061	NM_198465.4(NRK):c.1350G>T (p.Gln450His)	NRK (Q450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301060	NM_198465.4(NRK):c.3260A>G (p.Asp1087Gly)	NRK (D1087G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301059	NM_198465.4(NRK):c.4401C>G (p.Cys1467Trp)	NRK (C1467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301058	NM_198465.4(NRK):c.932C>T (p.Pro311Leu)	NRK (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301057	NM_198465.4(NRK):c.1065G>C (p.Gln355His)	NRK (Q355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3202178	NM_198465.4(NRK):c.978A>T (p.Leu326Phe)	NRK (L326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202177	NM_198465.4(NRK):c.841G>A (p.Gly281Arg)	NRK (G281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202176	NM_198465.4(NRK):c.793G>A (p.Ala265Thr)	NRK (A265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202175	NM_198465.4(NRK):c.4606C>T (p.Arg1536Cys)	NRK (R1536C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202174	NM_198465.4(NRK):c.3846C>A (p.Asn1282Lys)	NRK (N1282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202173	NM_198465.4(NRK):c.3764T>C (p.Val1255Ala)	NRK (V1255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202172	NM_198465.4(NRK):c.3585A>G (p.Ala1195=)	NRK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3202171	NM_198465.4(NRK):c.3557A>G (p.Asn1186Ser)	NRK (N1186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202170	NM_198465.4(NRK):c.3365C>T (p.Pro1122Leu)	NRK (P1122L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202169	NM_198465.4(NRK):c.3174G>C (p.Glu1058Asp)	NRK (E1058D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202168	NM_198465.4(NRK):c.2918A>G (p.Asn973Ser)	NRK (N973S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202167	NM_198465.4(NRK):c.2660C>A (p.Thr887Lys)	NRK (T887K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202166	NM_198465.4(NRK):c.2446G>A (p.Ala816Thr)	NRK (A816T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202165	NM_198465.4(NRK):c.2369C>T (p.Ser790Phe)	NRK (S790F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202164	NM_198465.4(NRK):c.2218G>A (p.Glu740Lys)	NRK (E740K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202163	NM_198465.4(NRK):c.2093G>T (p.Arg698Ile)	NRK (R698I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202161	NM_198465.4(NRK):c.1337T>G (p.Phe446Cys)	NRK (F446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202160	NM_198465.4(NRK):c.1186C>T (p.Pro396Ser)	NRK (P396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202159	NM_198465.4(NRK):c.1124C>T (p.Thr375Ile)	NRK (T375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3025528	NM_198465.4(NRK):c.4675C>T (p.Arg1559Cys)	NRK (R1559C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 2689606	NM_198465.4(NRK):c.3740G>A (p.Arg1247Gln)	NRK (R1247Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661128	NM_198465.4(NRK):c.3576C>G (p.Val1192=)	NRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661127	NM_198465.4(NRK):c.2302C>G (p.Gln768Glu)	NRK (Q768E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2661126	NM_198465.4(NRK):c.2163A>G (p.Glu721=)	NRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661125	NM_198465.4(NRK):c.336A>G (p.Ala112=)	NRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661124	NM_198465.4(NRK):c.312A>G (p.Lys104=)	NRK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661123	NM_198465.4(NRK):c.206G>A (p.Arg69Gln)	NRK (R69Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619675	NM_198465.4(NRK):c.1828A>G (p.Ile610Val)	NRK (I610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617876	NM_198465.4(NRK):c.527G>T (p.Arg176Leu)	NRK (R176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604245	NM_198465.4(NRK):c.3325G>A (p.Gly1109Arg)	NRK (G1109R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590048	NM_198465.4(NRK):c.2395C>T (p.His799Tyr)	NRK (H799Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555610	NM_198465.4(NRK):c.4015T>C (p.Tyr1339His)	NRK (Y1339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540298	NM_198465.4(NRK):c.157G>A (p.Val53Ile)	NRK (V53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533286	NM_198465.4(NRK):c.4067T>C (p.Ile1356Thr)	NRK (I1356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532487	NM_198465.4(NRK):c.1331G>C (p.Arg444Pro)	NRK (R444P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528321	NM_198465.4(NRK):c.3281C>A (p.Pro1094His)	NRK (P1094H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527643	NM_198465.4(NRK):c.1351G>T (p.Ala451Ser)	NRK (A451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515045	NM_198465.4(NRK):c.2569C>T (p.Pro857Ser)	NRK (P857S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514674	NM_198465.4(NRK):c.3356G>C (p.Gly1119Ala)	NRK (G1119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512669	NM_198465.4(NRK):c.1673A>G (p.Gln558Arg)	NRK (Q558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510999	NM_198465.4(NRK):c.802G>A (p.Val268Ile)	NRK (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510328	NM_198465.4(NRK):c.2458A>G (p.Ile820Val)	NRK (I820V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506548	GRCh37/hg19 Xq22.3(chrX:105066840-106486528)	CLDN2, DNAAF6 +10 more	Copy number loss	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2490966	NM_198465.4(NRK):c.4363A>C (p.Ile1455Leu)	NRK (I1455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482634	NM_198465.4(NRK):c.2180G>T (p.Arg727Leu)	NRK (R727L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455204	NM_198465.4(NRK):c.4495G>A (p.Asp1499Asn)	NRK (D1499N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401384	NM_198465.4(NRK):c.3752G>A (p.Arg1251His)	NRK (R1251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368389	NM_198465.4(NRK):c.3044C>T (p.Ala1015Val)	NRK (A1015V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367185	NM_198465.4(NRK):c.4559T>C (p.Ile1520Thr)	NRK (I1520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366474	NM_198465.4(NRK):c.4094A>G (p.Asp1365Gly)	NRK (D1365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357545	NM_198465.4(NRK):c.1924G>C (p.Gly642Arg)	NRK (G642R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351231	NM_198465.4(NRK):c.1234G>A (p.Ala412Thr)	NRK (A412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348480	NM_198465.4(NRK):c.2185C>G (p.Arg729Gly)	NRK (R729G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342552	NM_198465.4(NRK):c.2584G>A (p.Asp862Asn)	NRK (D862N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342105	NM_198465.4(NRK):c.3341A>G (p.Asn1114Ser)	NRK (N1114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334826	NM_198465.4(NRK):c.3119T>C (p.Ile1040Thr)	NRK (I1040T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314518	NM_198465.4(NRK):c.2780G>A (p.Ser927Asn)	NRK (S927N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311807	NM_198465.4(NRK):c.3236G>A (p.Gly1079Glu)	NRK (G1079E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311568	NM_198465.4(NRK):c.1639G>C (p.Glu547Gln)	NRK (E547Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297717	NM_198465.4(NRK):c.3246T>G (p.Asn1082Lys)	NRK (N1082K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291957	NM_198465.4(NRK):c.4277T>C (p.Phe1426Ser)	NRK (F1426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287792	NM_198465.4(NRK):c.4400G>T (p.Cys1467Phe)	NRK (C1467F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279925	NM_198465.4(NRK):c.25G>A (p.Asp9Asn)	NRK (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269117	NM_198465.4(NRK):c.2344A>G (p.Ile782Val)	NRK (I782V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267592	NM_198465.4(NRK):c.2740C>T (p.Pro914Ser)	NRK (P914S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251375	NM_198465.4(NRK):c.2592G>T (p.Lys864Asn)	NRK (K864N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235882	NM_198465.4(NRK):c.2701C>T (p.Arg901Trp)	NRK (R901W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225035	NM_198465.4(NRK):c.1831C>T (p.Pro611Ser)	NRK (P611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207891	NM_198465.4(NRK):c.3505G>T (p.Ala1169Ser)	NRK (A1169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526839	GRCh37/hg19 Xq22.3(chrX:105137256-105666666)	NRK, PWWP3B +1 more	Copy number gain	not specified	GUncertain significance

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