9745[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2330812	NM_014717.3(ZNF536):c.10G>A (p.Ala4Thr)	ZNF536 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468975	NM_014717.3(ZNF536):c.14G>A (p.Ser5Asn)	ZNF536 (S5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368638	NM_014717.3(ZNF536):c.44C>T (p.Pro15Leu)	ZNF536 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258589	NM_014717.3(ZNF536):c.165C>G (p.Asn55Lys)	ZNF536 (N55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558726	NM_014717.3(ZNF536):c.200A>G (p.Lys67Arg)	ZNF536 (K67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196540	NM_014717.3(ZNF536):c.220G>C (p.Gly74Arg)	ZNF536 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484012	NM_014717.3(ZNF536):c.253G>A (p.Ala85Thr)	ZNF536 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484013	NM_014717.3(ZNF536):c.254C>A (p.Ala85Asp)	ZNF536 (A85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258590	NM_014717.3(ZNF536):c.261G>C (p.Gln87His)	ZNF536 (Q87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534795	NM_014717.3(ZNF536):c.273G>C (p.Glu91Asp)	ZNF536 (E91D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257742	NM_014717.3(ZNF536):c.400C>A (p.Leu134Ile)	ZNF536 (L134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264139	NM_014717.3(ZNF536):c.590G>C (p.Arg197Pro)	ZNF536 (R197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196547	NM_014717.3(ZNF536):c.616G>T (p.Ala206Ser)	ZNF536 (A206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258592	NM_014717.3(ZNF536):c.636G>C (p.Gln212His)	ZNF536 (Q212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258587	NM_014717.3(ZNF536):c.722C>A (p.Ala241Asp)	ZNF536 (A241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258583	NM_014717.3(ZNF536):c.727C>A (p.Gln243Lys)	ZNF536 (Q243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196548	NM_014717.3(ZNF536):c.775A>G (p.Lys259Glu)	ZNF536 (K259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535435	NM_014717.3(ZNF536):c.803T>G (p.Val268Gly)	ZNF536 (V268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612086	NM_014717.3(ZNF536):c.998G>A (p.Gly333Asp)	ZNF536 (G333D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353740	NM_014717.3(ZNF536):c.1000C>T (p.Pro334Ser)	ZNF536 (P334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196531	NM_014717.3(ZNF536):c.1010G>T (p.Gly337Val)	ZNF536 (G337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701856	NM_014717.3(ZNF536):c.1015G>T (p.Glu339Ter)	ZNF536 (E339*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 3258588	NM_014717.3(ZNF536):c.1025C>T (p.Ala342Val)	ZNF536 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196532	NM_014717.3(ZNF536):c.1240C>T (p.Pro414Ser)	ZNF536 (P414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262125	NM_014717.3(ZNF536):c.1298G>T (p.Cys433Phe)	ZNF536 (C433F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623405	NM_014717.3(ZNF536):c.1312T>C (p.Phe438Leu)	ZNF536 (F438L)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2538838	NM_014717.3(ZNF536):c.1328A>G (p.Lys443Arg)	ZNF536 (K443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760734	NM_014717.3(ZNF536):c.1390G>A (p.Glu464Lys)	ZNF536 (E464K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 789116	NM_014717.3(ZNF536):c.1440C>T (p.Val480=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2321859	NM_014717.3(ZNF536):c.1442C>T (p.Pro481Leu)	ZNF536 (P481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196533	NM_014717.3(ZNF536):c.1458C>G (p.His486Gln)	ZNF536 (H486Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337972	NM_014717.3(ZNF536):c.1483G>A (p.Val495Met)	ZNF536 (V495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484162	NM_014717.3(ZNF536):c.1487C>T (p.Pro496Leu)	ZNF536 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338520	NM_014717.3(ZNF536):c.1510G>A (p.Glu504Lys)	ZNF536 (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196534	NM_014717.3(ZNF536):c.1552G>T (p.Val518Leu)	ZNF536 (V518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497700	NM_014717.3(ZNF536):c.1571G>A (p.Trp524Ter)	ZNF536 (W524*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 930713	NM_014717.3(ZNF536):c.1617_1627del (p.Lys540fs)	ZNF536 (K540fs)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 2213795	NM_014717.3(ZNF536):c.1663G>T (p.Ala555Ser)	ZNF536 (A555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196535	NM_014717.3(ZNF536):c.1690C>T (p.Arg564Trp)	ZNF536 (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258594	NM_014717.3(ZNF536):c.1762G>A (p.Val588Met)	ZNF536 (V588M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196536	NM_014717.3(ZNF536):c.1769G>T (p.Ser590Ile)	ZNF536 (S590I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534794	NM_014717.3(ZNF536):c.1769G>A (p.Ser590Asn)	ZNF536 (S590N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234073	NM_014717.3(ZNF536):c.1784C>T (p.Pro595Leu)	ZNF536 (P595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196537	NM_014717.3(ZNF536):c.1789A>G (p.Lys597Glu)	ZNF536 (K597E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209600	NM_014717.3(ZNF536):c.1852T>G (p.Tyr618Asp)	ZNF536 (Y618D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295420	NM_014717.3(ZNF536):c.1939G>T (p.Val647Phe)	ZNF536 (V647F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649672	NM_014717.3(ZNF536):c.1962G>A (p.Lys654=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599784	NM_014717.3(ZNF536):c.1993C>T (p.His665Tyr)	ZNF536 (H665Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258584	NM_014717.3(ZNF536):c.2018G>A (p.Gly673Asp)	ZNF536 (G673D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196538	NM_014717.3(ZNF536):c.2048T>C (p.Val683Ala)	ZNF536 (V683A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720598	NM_014717.3(ZNF536):c.2085C>T (p.Thr695=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1205961	NM_014717.3(ZNF536):c.2091G>C (p.Glu697Asp)	ZNF536 (E697D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310826	NM_014717.3(ZNF536):c.2098G>T (p.Val700Phe)	ZNF536 (V700F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708625	NM_014717.3(ZNF536):c.2171-7G>A	ZNF536	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2400933	NM_014717.3(ZNF536):c.2173A>G (p.Ile725Val)	ZNF536 (I725V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196539	NM_014717.3(ZNF536):c.2201G>C (p.Gly734Ala)	ZNF536 (G734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408493	NM_014717.3(ZNF536):c.2203G>A (p.Val735Ile)	ZNF536 (V735I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318081	NM_014717.3(ZNF536):c.2216C>T (p.Ala739Val)	ZNF536 (A739V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713235	NM_014717.3(ZNF536):c.2262G>A (p.Pro754=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331447	NM_014717.3(ZNF536):c.2335T>C (p.Tyr779His)	ZNF536 (Y779H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649673	NM_014717.3(ZNF536):c.2421C>T (p.Asn807=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196541	NM_014717.3(ZNF536):c.2484A>C (p.Lys828Asn)	ZNF536 (K828N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729474	NM_014717.3(ZNF536):c.2731G>A (p.Gly911Ser)	ZNF536 (G911S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2312571	NM_014717.3(ZNF536):c.2734G>C (p.Val912Leu)	ZNF536 (V912L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779184	NM_014717.3(ZNF536):c.2831C>A (p.Pro944His)	ZNF536 (P944H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2462962	NM_014717.3(ZNF536):c.2858A>G (p.Asp953Gly)	ZNF536 (D953G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326587	NM_014717.3(ZNF536):c.2942G>A (p.Arg981Gln)	ZNF536 (R981Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715983	NM_014717.3(ZNF536):c.2964G>A (p.Pro988=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2267990	NM_014717.3(ZNF536):c.2980G>A (p.Val994Met)	ZNF536 (V994M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355665	NM_014717.3(ZNF536):c.3004G>A (p.Gly1002Ser)	ZNF536 (G1002S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258591	NM_014717.3(ZNF536):c.3050C>A (p.Ala1017Asp)	ZNF536 (A1017D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341664	NM_014717.3(ZNF536):c.3088C>T (p.Arg1030Cys)	ZNF536 (R1030C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649674	NM_014717.3(ZNF536):c.3105C>T (p.Ile1035=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512593	NM_014717.3(ZNF536):c.3137G>A (p.Arg1046Gln)	ZNF536 (R1046Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403626	NM_014717.3(ZNF536):c.3143C>T (p.Ala1048Val)	ZNF536 (A1048V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3258596	NM_014717.3(ZNF536):c.3167C>T (p.Ser1056Leu)	ZNF536 (S1056L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025889	NM_014717.3(ZNF536):c.3186C>T (p.Asp1062=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196542	NM_014717.3(ZNF536):c.3279C>T (p.Ser1093=)	ZNF536	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2388171	NM_014717.3(ZNF536):c.3287G>C (p.Trp1096Ser)	ZNF536 (W1096S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305336	NM_014717.3(ZNF536):c.3296A>C (p.His1099Pro)	ZNF536 (H1099P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196544	NM_014717.3(ZNF536):c.3368G>A (p.Gly1123Asp)	ZNF536 (G1123D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304782	NM_014717.3(ZNF536):c.3392C>G (p.Pro1131Arg)	ZNF536 (P1131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267666	NM_014717.3(ZNF536):c.3400G>A (p.Glu1134Lys)	ZNF536 (E1134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330331	NM_014717.3(ZNF536):c.3434T>A (p.Val1145Asp)	ZNF536 (V1145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465167	NM_014717.3(ZNF536):c.3458C>T (p.Thr1153Met)	ZNF536 (T1153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258595	NM_014717.3(ZNF536):c.3523G>A (p.Gly1175Arg)	ZNF536 (G1175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649675	NM_014717.3(ZNF536):c.3534C>T (p.Asn1178=)	ZNF536	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3258585	NM_014717.3(ZNF536):c.3560C>T (p.Pro1187Leu)	ZNF536 (P1187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542132	NM_014717.3(ZNF536):c.3610G>T (p.Asp1204Tyr)	ZNF536 (D1204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250751	NM_014717.3(ZNF536):c.3668C>T (p.Ser1223Leu)	ZNF536 (S1223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196545	NM_014717.3(ZNF536):c.3686C>T (p.Pro1229Leu)	ZNF536 (P1229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551729	NM_014717.3(ZNF536):c.3693G>T (p.Lys1231Asn)	ZNF536 (K1231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790756	NM_014717.3(ZNF536):c.3700C>G (p.His1234Asp)	ZNF536 (H1234D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3196546	NM_014717.3(ZNF536):c.3757C>T (p.Arg1253Trp)	ZNF536 (R1253W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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