ClinVar for Gene (Select 284459) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3198933	NM_001353803.2(ZNF875):c.851G>T (p.Cys284Phe)	ZNF875 (C189F +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198932	NM_001353803.2(ZNF875):c.34-2417C>T	ZNF875 (T30M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198931	NM_001353803.2(ZNF875):c.529C>T (p.Leu177Phe)	ZNF875 (L171F +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198930	NM_001353803.2(ZNF875):c.502G>A (p.Val168Ile)	ZNF875 (V126I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198929	NM_001353803.2(ZNF875):c.495T>G (p.Phe165Leu)	ZNF875 (F124L +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198928	NM_001353803.2(ZNF875):c.431A>T (p.Asp144Val)	ZNF875 (D49V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198927	NM_001353803.2(ZNF875):c.383C>G (p.Pro128Arg)	ZNF875 (P114R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198926	NM_001353803.2(ZNF875):c.359T>G (p.Phe120Cys)	ZNF875 (F107C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198925	NM_001353803.2(ZNF875):c.280A>T (p.Ser94Cys)	ZNF875 (S52C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3198924	NM_001353803.2(ZNF875):c.178C>G (p.Pro60Ala)	ZNF875 (P18A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198923	NM_001353803.2(ZNF875):c.1856G>T (p.Arg619Ile)	ZNF875 (R577I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198922	NM_001353803.2(ZNF875):c.1747G>A (p.Ala583Thr)	ZNF875 (A542T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198921	NM_001353803.2(ZNF875):c.1735C>G (p.Gln579Glu)	ZNF875 (Q537E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198920	NM_001353803.2(ZNF875):c.1692G>C (p.Glu564Asp)	ZNF875 (E522D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198919	NM_001353803.2(ZNF875):c.1630C>T (p.Arg544Trp)	ZNF875 (R502W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198918	NM_001353803.2(ZNF875):c.1457G>A (p.Gly486Asp)	ZNF875 (G391D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198917	NM_001353803.2(ZNF875):c.1454G>A (p.Arg485Gln)	ZNF875 (R443Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198916	NM_001353803.2(ZNF875):c.1429C>G (p.Pro477Ala)	ZNF875 (P477A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198915	NM_001353803.2(ZNF875):c.1183A>G (p.Ile395Val)	ZNF875 (I376V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198914	NM_001353803.2(ZNF875):c.1127G>A (p.Arg376His)	ZNF875 (R362H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198913	NM_001353803.2(ZNF875):c.1126C>T (p.Arg376Cys)	ZNF875 (R376C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198912	NM_001353803.2(ZNF875):c.1117C>T (p.Arg373Cys)	ZNF875 (R278C +10 more)	Single nucleotide variant (missense variant +1 more)	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 2672760	NM_001353803.2(ZNF875):c.257-2460G>A	ZNF875	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672759	NM_001353803.2(ZNF875):c.257-2466C>T	ZNF875	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672758	NM_001353803.2(ZNF875):c.257-2472T>G	ZNF875	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649772	NM_001353803.2(ZNF875):c.1560C>A (p.Thr520=)	ZNF875	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649771	NM_001353803.2(ZNF875):c.257-2427A>G	ZNF875	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2623649	NM_001353803.2(ZNF875):c.1081A>G (p.Thr361Ala)	ZNF875 (T320A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615093	NM_001353803.2(ZNF875):c.1844C>A (p.Pro615His)	ZNF875 (P610H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599859	NM_001353803.2(ZNF875):c.989G>A (p.Arg330Gln)	ZNF875 (R289Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569086	NM_001353803.2(ZNF875):c.832G>A (p.Gly278Arg)	ZNF875 (G183R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541009	NM_001353803.2(ZNF875):c.1753G>A (p.Gly585Arg)	ZNF875 (G490R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522560	NM_001353803.2(ZNF875):c.350C>G (p.Ser117Cys)	ZNF875 (S118C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518730	NM_001353803.2(ZNF875):c.1171G>A (p.Glu391Lys)	ZNF875 (E385K +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513195	NM_001353803.2(ZNF875):c.34-2441G>A	ZNF875 (S22N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488198	NM_001353803.2(ZNF875):c.1157G>A (p.Arg386Lys)	ZNF875 (R367K +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473968	NM_001353803.2(ZNF875):c.35C>T (p.Ala12Val)	ZNF875 (A12V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2471723	NM_001353803.2(ZNF875):c.1549G>T (p.Asp517Tyr)	ZNF875 (D476Y +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469450	NM_001353803.2(ZNF875):c.1868G>A (p.Arg623Gln)	ZNF875 (R604Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460260	NM_001353803.2(ZNF875):c.911A>G (p.His304Arg)	ZNF875 (H298R +10 more)	Single nucleotide variant (missense variant +1 more)	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 787490	NM_001353803.2(ZNF875):c.153C>T (p.Val51=)	ZNF875	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 787489	NM_001353803.2(ZNF875):c.64T>G (p.Tyr22Asp)	ZNF875 (Y16D +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 692312	NM_001353803.2(ZNF875):c.1452del (p.Arg485fs)	ZNF875 (R390fs +10 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564582	GRCh37/hg19 19q13.12(chr19:37772899-37923531)x1	ZNF527, ZNF875 +1 more	Copy number loss	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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: 61