ZNF227[gene] - ClinVar

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Items: 55

	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 2354840	NM_182490.3(ZNF227):c.34A>C (p.Lys12Gln)	ZNF227 (K12Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279956	NM_182490.3(ZNF227):c.48G>C (p.Met16Ile)	ZNF227 (M16I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386623	NM_182490.3(ZNF227):c.142T>C (p.Tyr48His)	ZNF227 (Y48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549109	NM_182490.3(ZNF227):c.248T>C (p.Met83Thr)	ZNF227 (M32T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488492	NM_182490.3(ZNF227):c.299C>T (p.Thr100Ile)	ZNF227 (T100I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335195	NM_182490.3(ZNF227):c.436G>A (p.Val146Ile)	ZNF227 (V95I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532273	NM_182490.3(ZNF227):c.466C>G (p.Pro156Ala)	ZNF227 (P156A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459138	NM_182490.3(ZNF227):c.512T>C (p.Phe171Ser)	ZNF227 (F143S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294768	NM_182490.3(ZNF227):c.619T>C (p.Phe207Leu)	ZNF227 (F179L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329045	NM_182490.3(ZNF227):c.750T>G (p.His250Gln)	ZNF227 (H171Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332690	NM_182490.3(ZNF227):c.831C>G (p.Cys277Trp)	ZNF227 (C226W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477156	NM_182490.3(ZNF227):c.856A>C (p.Thr286Pro)	ZNF227 (T258P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335197	NM_182490.3(ZNF227):c.871C>T (p.His291Tyr)	ZNF227 (H194Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259504	NM_182490.3(ZNF227):c.988G>A (p.Gly330Ser)	ZNF227 (G302S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335193	NM_182490.3(ZNF227):c.1010C>T (p.Thr337Met)	ZNF227 (T240M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555888	NM_182490.3(ZNF227):c.1031G>A (p.Arg344Lys)	ZNF227 (R344K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281961	NM_182490.3(ZNF227):c.1136C>T (p.Pro379Leu)	ZNF227 (P282L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341869	NM_182490.3(ZNF227):c.1168G>A (p.Gly390Ser)	ZNF227 (G311S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335194	NM_182490.3(ZNF227):c.1187G>A (p.Arg396His)	ZNF227 (R396H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335196	NM_182490.3(ZNF227):c.1218G>T (p.Lys406Asn)	ZNF227 (K309N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194519	NM_182490.3(ZNF227):c.1268T>G (p.Phe423Cys)	ZNF227 (F372C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194520	NM_182490.3(ZNF227):c.1357T>A (p.Cys453Ser)	ZNF227 (C356S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542121	NM_182490.3(ZNF227):c.1460C>T (p.Thr487Met)	ZNF227 (T487M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194521	NM_182490.3(ZNF227):c.1468A>G (p.Lys490Glu)	ZNF227 (K411E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194522	NM_182490.3(ZNF227):c.1554A>C (p.Lys518Asn)	ZNF227 (K467N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496579	NM_182490.3(ZNF227):c.1628C>T (p.Thr543Ile)	ZNF227 (T446I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194523	NM_182490.3(ZNF227):c.1684A>G (p.Asn562Asp)	ZNF227 (N483D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353236	NM_182490.3(ZNF227):c.1724C>T (p.Pro575Leu)	ZNF227 (P496L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194524	NM_182490.3(ZNF227):c.1785A>T (p.Gln595His)	ZNF227 (Q595H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194525	NM_182490.3(ZNF227):c.1850T>C (p.Ile617Thr)	ZNF227 (I520T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372055	NM_182490.3(ZNF227):c.1874T>C (p.Val625Ala)	ZNF227 (V528A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281870	NM_182490.3(ZNF227):c.1880C>T (p.Thr627Ile)	ZNF227 (T530I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194526	NM_182490.3(ZNF227):c.1964C>T (p.Thr655Met)	ZNF227 (T558M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194527	NM_182490.3(ZNF227):c.2003G>C (p.Gly668Ala)	ZNF227 (G617A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532339	NM_182490.3(ZNF227):c.2018C>T (p.Ser673Leu)	ZNF227 (S594L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194528	NM_182490.3(ZNF227):c.2023T>C (p.Phe675Leu)	ZNF227 (F624L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209524	NM_182490.3(ZNF227):c.2191C>T (p.Leu731Phe)	ZNF227 (L634F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335198	NM_182490.3(ZNF227):c.2226A>T (p.Lys742Asn)	ZNF227 (K691N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441021	NM_182490.3(ZNF227):c.2233A>T (p.Lys745Ter)	ZNF227 (K745* +4 more)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 3194529	NM_182490.3(ZNF227):c.2312C>G (p.Pro771Arg)	ZNF227 (P692R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495304	NM_182490.3(ZNF227):c.2341T>A (p.Phe781Ile)	ZNF227 (F702I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335192	NM_182490.3(ZNF227):c.2356C>T (p.Arg786Cys)	ZNF227 (R689C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335199	NM_182490.3(ZNF227):c.2373G>C (p.Gln791His)	ZNF227 (Q712H +4 more)	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 1340569	GRCh37/hg19 19q13.31(chr19:44676697-44778605)x1	ZNF226, ZNF227 +1 more	Copy number loss	not provided	GLikely benign
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	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 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
Select item 221352	chr19:44501518-45322744 complex variant	BCAM, BCL3 +22 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 55