ClinVar for Gene (Select 390927) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259590	NM_001013659.3(ZNF793):c.260T>C (p.Ile87Thr)	ZNF793 (I87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259589	NM_001013659.3(ZNF793):c.1200A>C (p.Leu400Phe)	ZNF793 (L400F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259588	NM_001013659.3(ZNF793):c.565G>A (p.Gly189Ser)	ZNF793 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259586	NM_001013659.3(ZNF793):c.1018C>T (p.Arg340Cys)	ZNF793 (R340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259585	NM_001013659.3(ZNF793):c.405C>A (p.Ser135Arg)	ZNF793 (S135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198465	NM_001013659.3(ZNF793):c.889C>T (p.His297Tyr)	ZNF793 (H297Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198464	NM_001013659.3(ZNF793):c.886T>A (p.Ser296Thr)	ZNF793 (S296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198462	NM_001013659.3(ZNF793):c.872C>T (p.Ala291Val)	ZNF793 (A291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198461	NM_001013659.3(ZNF793):c.562C>T (p.Arg188Trp)	ZNF793 (R188W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198460	NM_001013659.3(ZNF793):c.274C>T (p.Arg92Trp)	ZNF793 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198459	NM_001013659.3(ZNF793):c.196C>T (p.Pro66Ser)	ZNF793 (P66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198458	NM_001013659.3(ZNF793):c.1064A>G (p.Asn355Ser)	ZNF793 (N355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2591455	NM_001013659.3(ZNF793):c.650G>A (p.Arg217Gln)	ZNF793 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550949	NM_001013659.3(ZNF793):c.530A>G (p.Asn177Ser)	ZNF793 (N177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537288	NM_001013659.3(ZNF793):c.871G>T (p.Ala291Ser)	ZNF793 (A291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524785	NM_001013659.3(ZNF793):c.1129T>C (p.Tyr377His)	ZNF793 (Y377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412155	NM_001013659.3(ZNF793):c.649C>T (p.Arg217Trp)	ZNF793 (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410005	NM_001013659.3(ZNF793):c.704C>G (p.Ala235Gly)	ZNF793 (A235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403044	NM_001013659.3(ZNF793):c.86A>G (p.Gln29Arg)	ZNF793 (Q29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394786	NM_001013659.3(ZNF793):c.40G>A (p.Val14Ile)	ZNF793 (V14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370610	NM_001013659.3(ZNF793):c.221C>T (p.Pro74Leu)	ZNF793 (P74L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364982	NM_001013659.3(ZNF793):c.205G>T (p.Gly69Cys)	ZNF793 (G69C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342835	NM_001013659.3(ZNF793):c.563G>A (p.Arg188Gln)	ZNF793 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338849	NM_001013659.3(ZNF793):c.410G>C (p.Ser137Thr)	ZNF793 (S137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311937	NM_001013659.3(ZNF793):c.1081C>T (p.His361Tyr)	ZNF793 (H361Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306941	NM_001013659.3(ZNF793):c.71G>A (p.Arg24Gln)	ZNF793 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277512	NM_001013659.3(ZNF793):c.914A>T (p.His305Leu)	ZNF793 (H305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224885	NM_001013659.3(ZNF793):c.285G>A (p.Met95Ile)	ZNF793 (M95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214552	NM_001013659.3(ZNF793):c.1013C>T (p.Pro338Leu)	ZNF793 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980762	GRCh37/hg19 19q13.12(chr19:37820377-38083967)x1	ZNF570, ZNF571 +5 more	Copy number loss	not provided	GUncertain significance
Select item 816079	GRCh37/hg19 19q13.12(chr19:37820245-38150396)x3	ZNF875, ZNF569 +6 more	Copy number gain	not provided	GLikely benign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46