7701[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 3307340	NM_032726.4(PLCD4):c.1516C>T (p.Arg506Cys)	PLCD4, ZNF142 (R506C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374351	NM_032726.4(PLCD4):c.1561T>C (p.Ser521Pro)	PLCD4, ZNF142 (S521P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307337	NM_032726.4(PLCD4):c.1589G>A (p.Arg530His)	PLCD4, ZNF142 (R530H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334900	NM_032726.4(PLCD4):c.1645C>T (p.Arg549Cys)	PLCD4, ZNF142 (R549C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2383776	NM_032726.4(PLCD4):c.1646G>A (p.Arg549His)	PLCD4, ZNF142 (R549H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206234	NM_032726.4(PLCD4):c.1722G>A (p.Met574Ile)	PLCD4, ZNF142 (M574I)	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 2226382	NM_032726.4(PLCD4):c.1792G>A (p.Gly598Ser)	PLCD4, ZNF142 (G598S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2205385	NM_032726.4(PLCD4):c.1925T>C (p.Val642Ala)	PLCD4, ZNF142 (V642A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2298004	NM_032726.4(PLCD4):c.1988G>A (p.Arg663His)	PLCD4, ZNF142 (R663H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2651884	NM_032726.4(PLCD4):c.2007G>A (p.Gln669=)	ZNF142, PLCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2338933	NM_032726.4(PLCD4):c.2029A>G (p.Asn677Asp)	PLCD4, ZNF142 (N677D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 2346245	NM_032726.4(PLCD4):c.2119G>A (p.Asp707Asn)	PLCD4, ZNF142 (D707N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
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 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 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 2207102	NM_032726.4(PLCD4):c.2189G>A (p.Arg730His)	PLCD4, ZNF142 (R730H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307347	NM_032726.4(PLCD4):c.2195T>G (p.Ile732Ser)	PLCD4, ZNF142 (I732S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307339	NM_032726.4(PLCD4):c.2269C>G (p.Leu757Val)	PLCD4, ZNF142 (L757V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307344	NM_032726.4(PLCD4):c.2276G>C (p.Gly759Ala)	PLCD4, ZNF142 (G759A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487790	NM_001379659.1(ZNF142):c.5638G>A (p.Ala1880Thr)	ZNF142 (A1517T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1254978	NM_001379659.1(ZNF142):c.5613G>A (p.Glu1871=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2273800	NM_001379659.1(ZNF142):c.5518G>A (p.Val1840Ile)	ZNF142 (V1477I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3364952	NM_001379659.1(ZNF142):c.5485A>G (p.Lys1829Glu)	ZNF142 (K1466E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442744	NM_001379659.1(ZNF142):c.5467del (p.Cys1823fs)	ZNF142 (C1460fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2651885	NM_001379659.1(ZNF142):c.5448C>T (p.Thr1816=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300940	NM_001379659.1(ZNF142):c.5447C>T (p.Thr1816Ile)	ZNF142 (T1616I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2342550	NM_001379659.1(ZNF142):c.5368G>A (p.Ala1790Thr)	ZNF142 (A1790T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341748	NM_001379659.1(ZNF142):c.5342G>A (p.Arg1781His)	ZNF142 (R1418H +2 more)	Single nucleotide variant (missense variant)	not provided	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 2459307	NM_001379659.1(ZNF142):c.5306A>G (p.Gln1769Arg)	ZNF142 (Q1569R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476534	NM_001379659.1(ZNF142):c.5291C>G (p.Ala1764Gly)	ZNF142 (A1401G +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 807526	NM_001379659.1(ZNF142):c.5254C>T (p.Arg1752Cys)	ZNF142 (R1389C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements +1 more	GConflicting classifications of pathogenicity
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 2363240	NM_001379659.1(ZNF142):c.5218G>A (p.Glu1740Lys)	ZNF142 (E1377K +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 1675839	NM_001379659.1(ZNF142):c.5116C>T (p.Arg1706Trp)	ZNF142 (R1343W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements +1 more	GLikely benign
Select item 627544	NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp)	ZNF142 (R1500W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GConflicting classifications of pathogenicity
Select item 1275581	NM_001379659.1(ZNF142):c.5089-180dup	ZNF142	Duplication (intron variant)	not provided	GBenign
Select item 1253286	NM_001379659.1(ZNF142):c.5089-162del	ZNF142	Deletion (intron variant)	not provided	GBenign
Select item 3334973	NM_001379659.1(ZNF142):c.5080C>A (p.Arg1694Ser)	ZNF142 (R1331S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438666	NM_001379659.1(ZNF142):c.5036del (p.Pro1679fs)	ZNF142 (P1316fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2651887	NM_001379659.1(ZNF142):c.4962C>T (p.Cys1654=)	ZNF142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265686	NM_001379659.1(ZNF142):c.4949G>A (p.Arg1650His)	ZNF142 (R1650H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244418	NM_001379659.1(ZNF142):c.4943G>C (p.Gly1648Ala)	ZNF142 (G1285A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487789	NM_001379659.1(ZNF142):c.4904A>G (p.His1635Arg)	ZNF142 (H1272R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2348881	NM_001379659.1(ZNF142):c.4900C>T (p.Arg1634Cys)	ZNF142 (R1434C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983381	NM_001379659.1(ZNF142):c.4880C>T (p.Pro1627Leu)	ZNF142 (P1264L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309230	NM_001379659.1(ZNF142):c.4879C>T (p.Pro1627Ser)	ZNF142 (P1264S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482665	NM_001379659.1(ZNF142):c.4828G>A (p.Val1610Met)	ZNF142 (V1410M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240741	NM_001379659.1(ZNF142):c.4792C>T (p.His1598Tyr)	ZNF142 (H1235Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 631476	NM_001379659.1(ZNF142):c.4785G>A (p.Leu1595=)	ZNF142	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 631475	NM_001379659.1(ZNF142):c.4783del (p.Leu1595fs)	ZNF142 (L1395fs +2 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 627546	NM_001105537.3(ZNF142):c.[4183delC;4185G>A]	ZNF142 (L1395fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GPathogenic/Likely pathogenic
Select item 2277511	NM_001379659.1(ZNF142):c.4775G>A (p.Arg1592Gln)	ZNF142 (R1392Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334971	NM_001379659.1(ZNF142):c.4735A>G (p.Ser1579Gly)	ZNF142 (S1379G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030151	NM_001379659.1(ZNF142):c.4717C>T (p.Arg1573Trp)	ZNF142 (R1210W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 3369784	NM_001379659.1(ZNF142):c.4696C>T (p.Arg1566Ter)	ZNF142 (R1203* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1683280	NM_001379659.1(ZNF142):c.4691C>G (p.Pro1564Arg)	ZNF142 (P1201R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3042245	NM_001379659.1(ZNF142):c.4673C>T (p.Ala1558Val)	ZNF142 (A1195V +2 more)	Single nucleotide variant (missense variant)	ZNF142-related disorder	GBenign
Select item 3036839	NM_001379659.1(ZNF142):c.4673C>A (p.Ala1558Asp)	ZNF142 (A1195D +2 more)	Single nucleotide variant (missense variant)	ZNF142-related disorder	GLikely benign
Select item 2211892	NM_001379659.1(ZNF142):c.4631G>A (p.Arg1544Gln)	ZNF142 (R1181Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3342865	NM_001379659.1(ZNF142):c.4630C>T (p.Arg1544Ter)	ZNF142 (R1181* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2328630	NM_001379659.1(ZNF142):c.4622C>T (p.Ala1541Val)	ZNF142 (A1541V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635279	NM_001379659.1(ZNF142):c.4602del (p.Leu1535fs)	ZNF142 (L1172fs +2 more)	Deletion (frameshift variant)	Seizure +1 more	GPathogenic
Select item 3341942	NM_001379659.1(ZNF142):c.4601G>T (p.Gly1534Val)	ZNF142 (G1171V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2209859	NM_001379659.1(ZNF142):c.4598G>T (p.Cys1533Phe)	ZNF142 (C1533F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334986	NM_001379659.1(ZNF142):c.4597T>C (p.Cys1533Arg)	ZNF142 (C1533R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212904	NM_001379659.1(ZNF142):c.4594C>T (p.Arg1532Cys)	ZNF142 (R1169C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321210	NM_001379659.1(ZNF142):c.4571C>T (p.Thr1524Ile)	ZNF142 (T1161I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279127	NM_001379659.1(ZNF142):c.4537G>A (p.Ala1513Thr)	ZNF142 (A1150T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1805427	NM_001379659.1(ZNF142):c.4522C>T (p.Arg1508Ter)	ZNF142 (R1145* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GLikely pathogenic
Select item 2441903	NM_001379659.1(ZNF142):c.4487G>C (p.Ser1496Thr)	ZNF142 (S1133T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 1712581	NM_001379659.1(ZNF142):c.4471T>C (p.Cys1491Arg)	ZNF142 (C1128R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310159	NM_001379659.1(ZNF142):c.4453G>C (p.Ala1485Pro)	ZNF142 (A1285P +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 3345637	NM_001379659.1(ZNF142):c.4405C>T (p.Arg1469Cys)	ZNF142 (R1106C +2 more)	Single nucleotide variant (missense variant)	ZNF142-related disorder	GLikely benign
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 2240544	NM_001379659.1(ZNF142):c.4387G>A (p.Asp1463Asn)	ZNF142 (D1463N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396141	NM_001379659.1(ZNF142):c.4379C>T (p.Pro1460Leu)	ZNF142 (P1260L +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 3334970	NM_001379659.1(ZNF142):c.4340G>A (p.Arg1447Gln)	ZNF142 (R1084Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1030150	NM_001379659.1(ZNF142):c.4331G>A (p.Arg1444His)	ZNF142 (R1081H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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