ZNF461[gene] - ClinVar

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Items: 47

	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 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 2352476	NM_153257.5(ZNF461):c.1627C>T (p.Leu543Phe)	ZNF461 (L455F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195912	NM_153257.5(ZNF461):c.1612A>T (p.Asn538Tyr)	ZNF461 (N507Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514388	NM_153257.5(ZNF461):c.1582G>A (p.Gly528Arg)	ZNF461 (G474R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336122	NM_153257.5(ZNF461):c.1582G>C (p.Gly528Arg)	ZNF461 (G505R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619274	NM_153257.5(ZNF461):c.1550G>A (p.Arg517Lys)	ZNF461 (R486K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195911	NM_153257.5(ZNF461):c.1511A>G (p.Lys504Arg)	ZNF461 (K450R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195910	NM_153257.5(ZNF461):c.1463A>G (p.Gln488Arg)	ZNF461 (Q400R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195909	NM_153257.5(ZNF461):c.1402C>T (p.Pro468Ser)	ZNF461 (P414S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195908	NM_153257.5(ZNF461):c.1163G>A (p.Arg388Gln)	ZNF461 (R365Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455456	NM_153257.5(ZNF461):c.1162C>T (p.Arg388Trp)	ZNF461 (R300W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251230	NM_153257.5(ZNF461):c.1148A>C (p.Lys383Thr)	ZNF461 (K329T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558416	NM_153257.5(ZNF461):c.1106G>A (p.Arg369His)	ZNF461 (R315H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195907	NM_153257.5(ZNF461):c.1019G>A (p.Arg340His)	ZNF461 (R286H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296279	NM_153257.5(ZNF461):c.1019G>C (p.Arg340Pro)	ZNF461 (R317P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296446	NM_153257.5(ZNF461):c.919G>A (p.Gly307Arg)	ZNF461 (G219R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195914	NM_153257.5(ZNF461):c.829G>A (p.Glu277Lys)	ZNF461 (E223K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392617	NM_153257.5(ZNF461):c.737A>G (p.Asn246Ser)	ZNF461 (N192S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294387	NM_153257.5(ZNF461):c.712A>G (p.Thr238Ala)	ZNF461 (T184A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602052	NM_153257.5(ZNF461):c.539T>C (p.Leu180Ser)	ZNF461 (L157S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589297	NM_153257.5(ZNF461):c.461A>G (p.His154Arg)	ZNF461 (H100R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528595	NM_153257.5(ZNF461):c.443A>G (p.Asn148Ser)	ZNF461 (N142S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315979	NM_153257.5(ZNF461):c.427G>A (p.Ala143Thr)	ZNF461 (A120T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258164	NM_153257.5(ZNF461):c.413G>C (p.Arg138Thr)	ZNF461 (R84T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411808	NM_153257.5(ZNF461):c.329A>G (p.Lys110Arg)	ZNF461 (K79R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402532	NM_153257.5(ZNF461):c.311C>T (p.Ser104Phe)	ZNF461 (S81F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496398	NM_153257.5(ZNF461):c.198G>T (p.Met66Ile)	ZNF461 (M1I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357081	NM_153257.5(ZNF461):c.161T>C (p.Val54Ala)	ZNF461 (V23A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359590	NM_153257.5(ZNF461):c.122A>T (p.Asn41Ile)	ZNF461 (N35I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369656	NM_153257.5(ZNF461):c.77C>T (p.Ala26Val)	ZNF461 (A20V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195913	NM_153257.5(ZNF461):c.7C>T (p.His3Tyr)	ZNF461 (H3Y)	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 2685636	GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1	ZFP14, ZFP82 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 1526662	GRCh37/hg19 19q13.12(chr19:36910874-37705345)	ZNF260, ZNF345 +12 more	Copy number loss	not specified	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 394412	GRCh37/hg19 19q13.12(chr19:37130813-37342652)x3	ZNF345, ZNF461 +3 more	Copy number gain	See cases	GBenign
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 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

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Items: 47