ClinVar for Gene (Select 93134) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196737	NM_152289.3(ZNF561):c.829G>A (p.Gly277Arg)	ZNF561 (G208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196736	NM_152289.3(ZNF561):c.782C>T (p.Ser261Phe)	ZNF561 (S192F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196735	NM_152289.3(ZNF561):c.674G>C (p.Cys225Ser)	ZNF561 (C156S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196733	NM_152289.3(ZNF561):c.535A>G (p.Thr179Ala)	ZNF561 (T179A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196732	NM_152289.3(ZNF561):c.442G>C (p.Gly148Arg)	ZNF561 (G148R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196731	NM_152289.3(ZNF561):c.416T>C (p.Val139Ala)	ZNF561 (V70A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196730	NM_152289.3(ZNF561):c.272C>T (p.Ser91Leu)	ZNF561 (S91L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196729	NM_152289.3(ZNF561):c.1433A>G (p.Glu478Gly)	ZNF561 (E478G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196728	NM_152289.3(ZNF561):c.1364G>A (p.Gly455Glu)	ZNF561 (G386E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196727	NM_152289.3(ZNF561):c.1337A>G (p.Glu446Gly)	ZNF561 (E377G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685629	GRCh37/hg19 19p13.2(chr19:9725258-9797352)x1	ZNF561, ZNF562	Copy number loss	not provided	GUncertain significance
Select item 2621673	NM_152289.3(ZNF561):c.149T>C (p.Phe50Ser)	ZNF561 (F50S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621204	NM_152289.3(ZNF561):c.842T>A (p.Phe281Tyr)	ZNF561 (F212Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620411	NM_152289.3(ZNF561):c.484G>T (p.Ala162Ser)	ZNF561 (A93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620204	NM_152289.3(ZNF561):c.411G>T (p.Met137Ile)	ZNF561 (M68I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570406	NM_152289.3(ZNF561):c.575A>G (p.Asn192Ser)	ZNF561 (N123S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563865	NM_152289.3(ZNF561):c.598A>G (p.Lys200Glu)	ZNF561 (K200E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530919	NM_152289.3(ZNF561):c.994A>G (p.Thr332Ala)	ZNF561 (T332A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530918	NM_152289.3(ZNF561):c.37A>G (p.Arg13Gly)	ZNF561 (R13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507703	NM_152289.3(ZNF561):c.1130C>T (p.Ser377Phe)	ZNF561 (S308F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492277	NM_152289.3(ZNF561):c.1275A>G (p.Ile425Met)	ZNF561 (I356M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490638	NM_152289.3(ZNF561):c.26G>C (p.Gly9Ala)	ZNF561 (G9A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485759	NM_152289.3(ZNF561):c.1280G>A (p.Gly427Glu)	ZNF561 (G358E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473589	NM_152289.3(ZNF561):c.412A>G (p.Arg138Gly)	ZNF561 (R138G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473275	NM_152289.3(ZNF561):c.536C>T (p.Thr179Ile)	ZNF561 (T179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469716	NM_152289.3(ZNF561):c.757A>G (p.Lys253Glu)	ZNF561 (K253E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469715	NM_152289.3(ZNF561):c.556G>A (p.Val186Ile)	ZNF561 (V117I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467860	NM_152289.3(ZNF561):c.385G>A (p.Glu129Lys)	ZNF561 (E60K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466736	NM_152289.3(ZNF561):c.532T>C (p.Phe178Leu)	ZNF561 (F178L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462227	NM_152289.3(ZNF561):c.1223G>A (p.Arg408His)	ZNF561 (R339H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456828	NM_152289.3(ZNF561):c.986G>A (p.Arg329Lys)	ZNF561 (R329K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456788	NM_152289.3(ZNF561):c.872G>A (p.Arg291Lys)	ZNF561 (R222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454664	NM_152289.3(ZNF561):c.1304G>A (p.Arg435His)	ZNF561 (R366H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409545	NM_152289.3(ZNF561):c.286G>A (p.Gly96Ser)	ZNF561 (G27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394387	NM_152289.3(ZNF561):c.560A>G (p.His187Arg)	ZNF561 (H187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391896	NM_152289.3(ZNF561):c.1303C>T (p.Arg435Cys)	ZNF561 (R366C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382965	NM_152289.3(ZNF561):c.815T>C (p.Val272Ala)	ZNF561 (V203A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382964	NM_152289.3(ZNF561):c.812C>A (p.Pro271His)	ZNF561 (P202H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366088	NM_152289.3(ZNF561):c.147C>G (p.Asp49Glu)	ZNF561 (D49E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2361593	NM_152289.3(ZNF561):c.23G>A (p.Arg8His)	ZNF561 (R8H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2348700	NM_152289.3(ZNF561):c.965C>G (p.Thr322Ser)	ZNF561 (T322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332734	NM_152289.3(ZNF561):c.1093T>A (p.Tyr365Asn)	ZNF561 (Y296N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331105	NM_152289.3(ZNF561):c.67A>T (p.Thr23Ser)	ZNF561 (T23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329182	NM_152289.3(ZNF561):c.148T>C (p.Phe50Leu)	ZNF561 (F50L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209151	NM_152289.3(ZNF561):c.956C>A (p.Thr319Asn)	ZNF561 (T319N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207342	NM_152289.3(ZNF561):c.34T>C (p.Ser12Pro)	ZNF561 (S12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 545228	Single allele	ACTL9, ADAMTS10 +132 more	Duplication	Autism	GLikely pathogenic
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56