ClinVar for Gene (Select 7701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214459	NM_032726.4(PLCD4):c.2063G>A (p.Cys688Tyr)	PLCD4, ZNF142 (C688Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214458	NM_032726.4(PLCD4):c.1780C>T (p.Arg594Cys)	PLCD4, ZNF142 (R594C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3194084	NM_001379659.1(ZNF142):c.1459C>T (p.Arg487Cys)	ZNF142 (R124C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194083	NM_001379659.1(ZNF142):c.1162G>C (p.Asp388His)	ZNF142 (D188H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194081	NM_001379659.1(ZNF142):c.5378A>T (p.Tyr1793Phe)	ZNF142 (Y1593F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194080	NM_001379659.1(ZNF142):c.5330G>A (p.Arg1777His)	ZNF142 (R1777H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194079	NM_001379659.1(ZNF142):c.5240G>A (p.Arg1747Gln)	ZNF142 (R1384Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194078	NM_001379659.1(ZNF142):c.4697G>A (p.Arg1566Gln)	ZNF142 (R1366Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194076	NM_001379659.1(ZNF142):c.4406G>A (p.Arg1469His)	ZNF142 (R1269H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194075	NM_001379659.1(ZNF142):c.4400A>T (p.Tyr1467Phe)	ZNF142 (Y1267F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194073	NM_001379659.1(ZNF142):c.4240C>T (p.Arg1414Trp)	ZNF142 (R1051W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194072	NM_001379659.1(ZNF142):c.4102C>T (p.Arg1368Trp)	ZNF142 (R1005W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194071	NM_001379659.1(ZNF142):c.4067G>A (p.Arg1356Gln)	ZNF142 (R993Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194069	NM_001379659.1(ZNF142):c.941G>C (p.Gly314Ala)	ZNF142 (G114A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3194068	NM_001379659.1(ZNF142):c.3910T>G (p.Phe1304Val)	ZNF142 (F1104V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194067	NM_001379659.1(ZNF142):c.3904G>A (p.Ala1302Thr)	ZNF142 (A939T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194066	NM_001379659.1(ZNF142):c.3700C>T (p.Leu1234Phe)	ZNF142 (L1034F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194065	NM_001379659.1(ZNF142):c.3578C>T (p.Thr1193Met)	ZNF142 (T830M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194064	NM_001379659.1(ZNF142):c.889C>G (p.Leu297Val)	ZNF142 (L297V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3194062	NM_001379659.1(ZNF142):c.3125C>T (p.Pro1042Leu)	ZNF142 (P679L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194061	NM_001379659.1(ZNF142):c.167C>T (p.Pro56Leu)	ZNF142 (P56L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3194060	NM_001379659.1(ZNF142):c.2261G>T (p.Arg754Leu)	ZNF142 (R391L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194059	NM_001379659.1(ZNF142):c.2231A>G (p.Tyr744Cys)	ZNF142 (Y544C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194058	NM_001379659.1(ZNF142):c.157C>G (p.Pro53Ala)	ZNF142 (P53A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3194056	NM_001379659.1(ZNF142):c.1810C>T (p.Pro604Ser)	ZNF142 (P604S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194054	NM_001379659.1(ZNF142):c.1705A>T (p.Ser569Cys)	ZNF142 (S206C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3194053	NM_001379659.1(ZNF142):c.1683C>A (p.His561Gln)	ZNF142 (H561Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194052	NM_001379659.1(ZNF142):c.1604C>A (p.Ala535Asp)	ZNF142 (A335D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3064804	NM_001379659.1(ZNF142):c.2585A>T (p.Glu862Val)	ZNF142 (E499V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GLikely benign
Select item 3064795	NM_001379659.1(ZNF142):c.2971A>G (p.Thr991Ala)	ZNF142 (T628A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 3059733	NM_001379659.1(ZNF142):c.420T>C (p.Ser140=)	ZNF142	Single nucleotide variant (synonymous variant +1 more)	ZNF142-related condition	GBenign
Select item 3056705	NM_001379659.1(ZNF142):c.1021A>C (p.Lys341Gln)	ZNF142 (K141Q +1 more)	Single nucleotide variant (missense variant +1 more)	ZNF142-related condition	GBenign
Select item 3055973	NM_001379659.1(ZNF142):c.4173G>A (p.Arg1391=)	ZNF142	Single nucleotide variant (synonymous variant)	ZNF142-related condition	GBenign
Select item 3048809	NM_001379659.1(ZNF142):c.1027C>A (p.Gln343Lys)	ZNF142 (Q143K +1 more)	Single nucleotide variant (missense variant +1 more)	ZNF142-related condition	GBenign
Select item 3045260	NM_001379659.1(ZNF142):c.1833C>T (p.Ala611=)	ZNF142	Single nucleotide variant (synonymous variant)	ZNF142-related condition	GLikely benign
Select item 3042245	NM_001379659.1(ZNF142):c.4673C>T (p.Ala1558Val)	ZNF142 (A1195V +2 more)	Single nucleotide variant (missense variant)	ZNF142-related condition	GBenign
Select item 3036839	NM_001379659.1(ZNF142):c.4673C>A (p.Ala1558Asp)	ZNF142 (A1195D +2 more)	Single nucleotide variant (missense variant)	ZNF142-related condition	GLikely benign
Select item 3033856	NM_001379659.1(ZNF142):c.4308G>A (p.Thr1436=)	ZNF142	Single nucleotide variant (synonymous variant)	ZNF142-related condition	GBenign
Select item 3026620	NM_001379659.1(ZNF142):c.4191G>A (p.Val1397=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026089	NM_001379659.1(ZNF142):c.504G>T (p.Val168=)	ZNF142	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025205	NM_001379659.1(ZNF142):c.2220G>A (p.Pro740=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690781	NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter)	ZNF142 (Q106* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GConflicting classifications of pathogenicity
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2663723	NM_001379659.1(ZNF142):c.4004T>G (p.Leu1335Arg)	ZNF142 (L1135R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662419	NM_001379659.1(ZNF142):c.13C>T (p.Leu5Phe)	ZNF142 (L5F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651896	NM_001379659.1(ZNF142):c.210A>G (p.Pro70=)	ZNF142	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651895	NM_001379659.1(ZNF142):c.510A>G (p.Arg170=)	ZNF142	Single nucleotide variant (synonymous variant +1 more)	ZNF142-related condition +1 more	GLikely benign
Select item 2651894	NM_001379659.1(ZNF142):c.1590C>T (p.Ala530=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651893	NM_001379659.1(ZNF142):c.1874-4_1874-3del	ZNF142	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2651892	NM_001379659.1(ZNF142):c.2261G>A (p.Arg754His)	ZNF142 (R391H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651891	NM_001379659.1(ZNF142):c.3573A>T (p.Ser1191=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651890	NM_001379659.1(ZNF142):c.3579G>A (p.Thr1193=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651889	NM_001379659.1(ZNF142):c.3638C>T (p.Thr1213Ile)	ZNF142 (T1013I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651888	NM_001379659.1(ZNF142):c.3762C>T (p.Gly1254=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651887	NM_001379659.1(ZNF142):c.4962C>T (p.Cys1654=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651886	NM_001379659.1(ZNF142):c.5398C>T (p.Arg1800Cys)	ZNF142 (R1437C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651885	NM_001379659.1(ZNF142):c.5448C>T (p.Thr1816=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651884	NM_032726.4(PLCD4):c.2007G>A (p.Gln669=)	PLCD4, ZNF142	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2622361	NM_001379659.1(ZNF142):c.5408G>T (p.Arg1803Leu)	ZNF142 (R1603L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621333	NM_001379659.1(ZNF142):c.3188G>A (p.Arg1063Gln)	ZNF142 (R1063Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617298	NM_032726.4(PLCD4):c.2132G>A (p.Arg711Gln)	PLCD4, ZNF142 (R711Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2610699	NM_001379659.1(ZNF142):c.1498C>T (p.Arg500Cys)	ZNF142 (R137C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609557	NM_032726.4(PLCD4):c.2174T>C (p.Met725Thr)	PLCD4, ZNF142 (M725T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609389	NM_001379659.1(ZNF142):c.1484A>G (p.Tyr495Cys)	ZNF142 (Y132C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606912	NM_001379659.1(ZNF142):c.5594T>C (p.Leu1865Pro)	ZNF142 (L1865P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601054	NM_001379659.1(ZNF142):c.1555C>T (p.Arg519Cys)	ZNF142 (R319C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600669	NM_001379659.1(ZNF142):c.4354G>A (p.Asp1452Asn)	ZNF142 (D1089N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598669	NM_001379659.1(ZNF142):c.2158G>C (p.Ala720Pro)	ZNF142 (A357P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584850	NM_001379659.1(ZNF142):c.1433C>T (p.Ala478Val)	ZNF142 (A278V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2584849	NM_001379659.1(ZNF142):c.2551A>G (p.Ser851Gly)	ZNF142 (S651G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2582485	NM_001379659.1(ZNF142):c.3755del (p.Gly1252fs)	ZNF142 (G1052fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GLikely pathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2578101	NM_001379659.1(ZNF142):c.4901G>A (p.Arg1634His)	ZNF142 (R1271H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578056	NM_001379659.1(ZNF142):c.4235G>A (p.Arg1412Gln)	ZNF142 (R1049Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577470	NM_001379659.1(ZNF142):c.2341C>T (p.Arg781Cys)	ZNF142 (R418C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GPathogenic
Select item 2571121	NM_001379659.1(ZNF142):c.336C>T (p.Phe112=)	ZNF142	Single nucleotide variant (synonymous variant +1 more)	ZNF142-related condition +1 more	GLikely benign
Select item 2571120	NM_001379659.1(ZNF142):c.3105C>T (p.Ala1035=)	ZNF142	Single nucleotide variant (synonymous variant)	ZNF142-related condition +1 more	GBenign/Likely benign
Select item 2571119	NM_001379659.1(ZNF142):c.3346C>G (p.Gln1116Glu)	ZNF142 (Q1116E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571118	NM_001379659.1(ZNF142):c.4334T>A (p.Leu1445Ter)	ZNF142 (L1082* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2564399	NM_001379659.1(ZNF142):c.4046C>T (p.Ala1349Val)	ZNF142 (A1349V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553828	NM_001379659.1(ZNF142):c.3860G>A (p.Ser1287Asn)	ZNF142 (S1087N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2547282	NM_001379659.1(ZNF142):c.3662T>G (p.Phe1221Cys)	ZNF142 (F858C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546906	NM_032726.4(PLCD4):c.2156C>T (p.Thr719Ile)	PLCD4, ZNF142 (T719I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538453	NM_001379659.1(ZNF142):c.1123C>T (p.Arg375Trp)	ZNF142 (R175W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535645	NM_001379659.1(ZNF142):c.1949C>T (p.Thr650Ile)	ZNF142 (T650I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522894	NM_001379659.1(ZNF142):c.3758G>A (p.Arg1253His)	ZNF142 (R1253H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513446	NM_001379659.1(ZNF142):c.5288G>A (p.Arg1763Gln)	ZNF142 (R1763Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510041	NM_001379659.1(ZNF142):c.2064C>G (p.Asn688Lys)	ZNF142 (N688K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509748	NM_001379659.1(ZNF142):c.5399G>A (p.Arg1800His)	ZNF142 (R1800H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508997	NM_001379659.1(ZNF142):c.4217A>G (p.Asp1406Gly)	ZNF142 (D1043G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508047	NM_001379659.1(ZNF142):c.4091C>A (p.Ala1364Asp)	ZNF142 (A1001D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506451	NM_001379659.1(ZNF142):c.5194+1G>C	ZNF142	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GLikely pathogenic
Select item 2503959	NM_001379659.1(ZNF142):c.95C>G (p.Ser32Cys)	ZNF142 (S32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499388	NM_001379659.1(ZNF142):c.1915C>T (p.Arg639Ter)	ZNF142 (R276* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2498863	NM_001379659.1(ZNF142):c.43G>A (p.Gly15Arg)	ZNF142 (G15R)	Single nucleotide variant (missense variant +1 more)	ZNF142-related condition +1 more	GBenign/Likely benign
Select item 2494226	NM_001379659.1(ZNF142):c.3668A>G (p.Gln1223Arg)	ZNF142 (Q1223R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492869	NM_001379659.1(ZNF142):c.170G>C (p.Gly57Ala)	ZNF142 (G57A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492008	NM_001379659.1(ZNF142):c.2963C>A (p.Pro988His)	ZNF142 (P988H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491088	NM_001379659.1(ZNF142):c.1501A>G (p.Lys501Glu)	ZNF142 (K138E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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