ZNF184[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	LOC129996111, LOC129996112 +344 more	Copy number gain	See cases	GUncertain significance
Select item 2487849	NM_001318891.2(ZNF184):c.2148C>G (p.His716Gln)	ZNF184 (H640Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204949	NM_001318891.2(ZNF184):c.2114A>G (p.Lys705Arg)	ZNF184 (K705R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381560	NM_001318891.2(ZNF184):c.2041C>T (p.Arg681Trp)	ZNF184 (R681W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790032	NM_001318891.2(ZNF184):c.2004G>A (p.Lys668=)	ZNF184	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2296170	NM_001318891.2(ZNF184):c.1949C>T (p.Thr650Ile)	ZNF184 (T650I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481151	NM_001318891.2(ZNF184):c.1898A>C (p.Gln633Pro)	ZNF184 (Q557P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286321	NM_001318891.2(ZNF184):c.1870C>G (p.Arg624Gly)	ZNF184 (R548G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285929	NM_001318891.2(ZNF184):c.1825A>G (p.Thr609Ala)	ZNF184 (T533A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546051	NM_001318891.2(ZNF184):c.1442A>G (p.Lys481Arg)	ZNF184 (K405R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248038	NM_001318891.2(ZNF184):c.1430A>G (p.Asn477Ser)	ZNF184 (N401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481524	NM_001318891.2(ZNF184):c.1370A>G (p.Tyr457Cys)	ZNF184 (Y381C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229835	NM_001318891.2(ZNF184):c.1276G>A (p.Ala426Thr)	ZNF184 (A426T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247743	NM_001318891.2(ZNF184):c.1019G>A (p.Gly340Glu)	LOC129389481, ZNF184 (G340E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261312	NM_001318891.2(ZNF184):c.901A>C (p.Thr301Pro)	LOC129389481, ZNF184 (T301P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540882	NM_001318891.2(ZNF184):c.829C>A (p.Pro277Thr)	ZNF184 (P201T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596087	NM_001318891.2(ZNF184):c.758A>G (p.Asn253Ser)	ZNF184 (N177S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240138	NM_001318891.2(ZNF184):c.689C>G (p.Ala230Gly)	ZNF184 (A230G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493646	NM_001318891.2(ZNF184):c.628A>G (p.Lys210Glu)	ZNF184 (K134E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594523	NM_001318891.2(ZNF184):c.614C>T (p.Thr205Ile)	ZNF184 (T129I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298275	NM_001318891.2(ZNF184):c.261G>T (p.Trp87Cys)	ZNF184 (D2Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 161657	NM_001318891.2(ZNF184):c.113C>A (p.Thr38Asn)	ZNF184 (T38N)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 2537127	NM_001318891.2(ZNF184):c.92A>G (p.Lys31Arg)	ZNF184 (K31R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 686587	GRCh37/hg19 6p22.1(chr6:27209501-27432468)x1	POM121L2, PRSS16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563170	GRCh37/hg19 6p22.1(chr6:27166564-27432468)x3	ZNF184, ZNF391 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 29