ZNF221[gene] - ClinVar

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Items: 50

	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3335169	NM_001297588.2(ZNF221):c.79A>C (p.Lys27Gln)	ZNF221 (K27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591513	NM_001297588.2(ZNF221):c.106G>T (p.Ala36Ser)	ZNF221 (A36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289369	NM_001297588.2(ZNF221):c.159G>T (p.Lys53Asn)	ZNF221 (K53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363920	NM_001297588.2(ZNF221):c.182A>G (p.Glu61Gly)	ZNF221 (E61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194462	NM_001297588.2(ZNF221):c.240C>A (p.His80Gln)	ZNF221 (H80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194463	NM_001297588.2(ZNF221):c.278C>A (p.Thr93Lys)	ZNF221 (T93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335165	NM_001297588.2(ZNF221):c.343G>A (p.Gly115Arg)	ZNF221 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519728	NM_001297588.2(ZNF221):c.358T>C (p.Trp120Arg)	ZNF221 (W120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357129	NM_001297588.2(ZNF221):c.446A>G (p.Glu149Gly)	ZNF221 (E149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194464	NM_001297588.2(ZNF221):c.454G>A (p.Val152Ile)	ZNF221 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194465	NM_001297588.2(ZNF221):c.586A>G (p.Lys196Glu)	ZNF221 (K196E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485387	NM_001297588.2(ZNF221):c.623G>A (p.Cys208Tyr)	ZNF221 (C208Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369227	NM_001297588.2(ZNF221):c.623G>C (p.Cys208Ser)	ZNF221 (C208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335163	NM_001297588.2(ZNF221):c.628A>G (p.Ser210Gly)	ZNF221 (S210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213351	NM_001297588.2(ZNF221):c.641A>G (p.His214Arg)	ZNF221 (H214R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335166	NM_001297588.2(ZNF221):c.663G>A (p.Met221Ile)	ZNF221 (M221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372080	NM_001297588.2(ZNF221):c.722T>G (p.Leu241Arg)	ZNF221 (L241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608761	NM_001297588.2(ZNF221):c.737G>T (p.Arg246Ile)	ZNF221 (R246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339926	NM_001297588.2(ZNF221):c.743A>C (p.His248Pro)	ZNF221 (H248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526711	NM_001297588.2(ZNF221):c.787T>C (p.Phe263Leu)	ZNF221 (F263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604807	NM_001297588.2(ZNF221):c.820A>G (p.Lys274Glu)	ZNF221 (K274E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335164	NM_001297588.2(ZNF221):c.822A>T (p.Lys274Asn)	ZNF221 (K274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194466	NM_001297588.2(ZNF221):c.914C>A (p.Thr305Asn)	ZNF221 (T305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194467	NM_001297588.2(ZNF221):c.940A>C (p.Ile314Leu)	ZNF221 (I314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368675	NM_001297588.2(ZNF221):c.958C>T (p.Arg320Cys)	ZNF221 (R320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194468	NM_001297588.2(ZNF221):c.959G>A (p.Arg320His)	ZNF221 (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474694	NM_001297588.2(ZNF221):c.1042C>G (p.Arg348Gly)	ZNF221 (R348G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194458	NM_001297588.2(ZNF221):c.1072A>G (p.Met358Val)	ZNF221 (M358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335167	NM_001297588.2(ZNF221):c.1079A>G (p.His360Arg)	ZNF221 (H360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460468	NM_001297588.2(ZNF221):c.1180T>C (p.Tyr394His)	ZNF221 (Y394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194459	NM_001297588.2(ZNF221):c.1181A>G (p.Tyr394Cys)	ZNF221 (Y394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400161	NM_001297588.2(ZNF221):c.1310G>A (p.Arg437Gln)	ZNF221 (R437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351180	NM_001297588.2(ZNF221):c.1418C>T (p.Thr473Met)	ZNF221 (T473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256902	NM_001297588.2(ZNF221):c.1429C>A (p.Pro477Thr)	ZNF221 (P477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194460	NM_001297588.2(ZNF221):c.1469C>T (p.Ala490Val)	ZNF221 (A490V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407331	NM_001297588.2(ZNF221):c.1504G>A (p.Gly502Arg)	ZNF221 (G502R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2494310	NM_001297588.2(ZNF221):c.1623G>C (p.Lys541Asn)	ZNF221 (K541N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194461	NM_001297588.2(ZNF221):c.1625G>T (p.Gly542Val)	ZNF221 (G542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354287	NM_001297588.2(ZNF221):c.1643A>G (p.Asn548Ser)	ZNF221 (N548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335168	NM_001297588.2(ZNF221):c.1690T>C (p.Cys564Arg)	ZNF221 (C564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556220	NM_001297588.2(ZNF221):c.1834T>C (p.Cys612Arg)	ZNF221 (C612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 221402	GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1	CEACAM20, ZNF112 +16 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50