ZNF846[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
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 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 3198811	NM_001077624.3(ZNF846):c.1549C>G (p.Gln517Glu)	ZNF846 (Q388E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492017	NM_001077624.3(ZNF846):c.1495A>T (p.Thr499Ser)	ZNF846 (T370S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333942	NM_001077624.3(ZNF846):c.1484T>C (p.Val495Ala)	ZNF846 (V366A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332038	NM_001077624.3(ZNF846):c.1468T>C (p.Ser490Pro)	ZNF846 (S489P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327893	NM_001077624.3(ZNF846):c.1459T>C (p.Phe487Leu)	ZNF846 (F358L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382881	NM_001077624.3(ZNF846):c.1366G>A (p.Gly456Ser)	ZNF846 (G455S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559291	NM_001077624.3(ZNF846):c.1355G>A (p.Cys452Tyr)	ZNF846 (C323Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220765	NM_001077624.3(ZNF846):c.1304C>T (p.Ser435Leu)	ZNF846 (S306L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515288	NM_001077624.3(ZNF846):c.1235A>G (p.His412Arg)	ZNF846 (H283R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247223	NM_001077624.3(ZNF846):c.1214A>G (p.Asn405Ser)	ZNF846 (N405S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249315	NM_001077624.3(ZNF846):c.1129C>T (p.Arg377Cys)	ZNF846 (R376C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403024	NM_001077624.3(ZNF846):c.1103G>T (p.Cys368Phe)	ZNF846 (C239F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198810	NM_001077624.3(ZNF846):c.1013A>G (p.Tyr338Cys)	ZNF846 (Y239C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377608	NM_001077624.3(ZNF846):c.1012T>A (p.Tyr338Asn)	ZNF846 (Y209N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339524	NM_001077624.3(ZNF846):c.989G>A (p.Arg330Gln)	ZNF846 (R201Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267473	NM_001077624.3(ZNF846):c.914G>A (p.Ser305Asn)	ZNF846 (S269N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553876	NM_001077624.3(ZNF846):c.706A>G (p.Ser236Gly)	ZNF846 (S179G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267332	NM_001077624.3(ZNF846):c.685A>G (p.Lys229Glu)	ZNF846 (K100E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287084	NM_001077624.3(ZNF846):c.658C>T (p.His220Tyr)	ZNF846 (H184Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198813	NM_001077624.3(ZNF846):c.568A>C (p.Lys190Gln)	ZNF846 (K153Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613584	NM_001077624.3(ZNF846):c.491A>C (p.His164Pro)	ZNF846 (H107P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198812	NM_001077624.3(ZNF846):c.474T>G (p.Ser158Arg)	ZNF846 (S101R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534152	NM_001077624.3(ZNF846):c.437A>G (p.Gln146Arg)	ZNF846 (Q110R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649276	NM_001077624.3(ZNF846):c.405T>C (p.Thr135=)	ZNF846	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2377609	NM_001077624.3(ZNF846):c.203G>A (p.Arg68Lys)	ZNF846 (R32K +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2347247	NM_001077624.3(ZNF846):c.71T>C (p.Leu24Ser)	ZNF846 (L24S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3198814	NM_001077624.3(ZNF846):c.56A>C (p.Gln19Pro)	ZNF846 (Q19P)	Single nucleotide variant (missense variant +3 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 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 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

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Items: 36