ZNF180[gene] - ClinVar

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Items: 60

	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 2613004	NM_001278509.3(ZNF180):c.1876A>G (p.Arg626Gly)	ZNF180 (R626G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194220	NM_001278509.3(ZNF180):c.1831T>A (p.Cys611Ser)	ZNF180 (C637S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335058	NM_001278509.3(ZNF180):c.1805G>A (p.Gly602Glu)	ZNF180 (G604E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194219	NM_001278509.3(ZNF180):c.1794A>T (p.Arg598Ser)	ZNF180 (R600S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524595	NM_001278509.3(ZNF180):c.1769G>A (p.Ser590Asn)	ZNF180 (S592N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194218	NM_001278509.3(ZNF180):c.1685G>A (p.Ser562Asn)	ZNF180 (S562N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241912	NM_001278509.3(ZNF180):c.1667G>A (p.Gly556Glu)	ZNF180 (G240E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468673	NM_001278509.3(ZNF180):c.1597C>T (p.Arg533Cys)	ZNF180 (R533C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194217	NM_001278509.3(ZNF180):c.1462C>A (p.His488Asn)	ZNF180 (H514N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335051	NM_001278509.3(ZNF180):c.1424T>G (p.Phe475Cys)	ZNF180 (F477C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388670	NM_001278509.3(ZNF180):c.1415G>C (p.Gly472Ala)	ZNF180 (G156A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550702	NM_001278509.3(ZNF180):c.1412G>A (p.Cys471Tyr)	ZNF180 (C473Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194216	NM_001278509.3(ZNF180):c.1396T>C (p.Tyr466His)	ZNF180 (Y468H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194215	NM_001278509.3(ZNF180):c.1394C>T (p.Pro465Leu)	ZNF180 (P149L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224475	NM_001278509.3(ZNF180):c.1364C>T (p.Ala455Val)	ZNF180 (A139V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358978	NM_001278509.3(ZNF180):c.1277T>C (p.Ile426Thr)	ZNF180 (I110T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335059	NM_001278509.3(ZNF180):c.1142C>T (p.Pro381Leu)	LOC129391119, ZNF180 (P408L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622793	NM_001278509.3(ZNF180):c.1108G>T (p.Val370Phe)	LOC129391119, ZNF180 (V54F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194214	NM_001278509.3(ZNF180):c.1100C>T (p.Ser367Leu)	LOC129391119, ZNF180 (S369L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410940	NM_001278509.3(ZNF180):c.1070G>C (p.Ser357Thr)	LOC129391119, ZNF180 (S383T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650083	NM_001278509.3(ZNF180):c.1062T>C (p.Tyr354=)	LOC129391119, ZNF180	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609332	NM_001278509.3(ZNF180):c.1045A>C (p.Thr349Pro)	LOC129391119, ZNF180 (T351P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194213	NM_001278509.3(ZNF180):c.1009T>C (p.Trp337Arg)	ZNF180 (W363R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248735	NM_001278509.3(ZNF180):c.926A>G (p.His309Arg)	ZNF180 (H311R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335054	NM_001278509.3(ZNF180):c.889T>G (p.Phe297Val)	ZNF180 (F297V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3194226	NM_001278509.3(ZNF180):c.868A>C (p.Asn290His)	ZNF180 (N317H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472650	NM_001278509.3(ZNF180):c.866A>G (p.His289Arg)	ZNF180 (H289R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334073	NM_001278509.3(ZNF180):c.832G>A (p.Glu278Lys)	ZNF180 (E278K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650084	NM_001278509.3(ZNF180):c.780C>T (p.Pro260=)	ZNF180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3194225	NM_001278509.3(ZNF180):c.750C>G (p.Asp250Glu)	ZNF180 (D276E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333938	NM_001278509.3(ZNF180):c.604C>T (p.Leu202Phe)	ZNF180 (L202F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335052	NM_001278509.3(ZNF180):c.595A>G (p.Lys199Glu)	ZNF180 (K226E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194224	NM_001278509.3(ZNF180):c.571C>T (p.His191Tyr)	ZNF180 (H217Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326674	NM_001278509.3(ZNF180):c.550A>G (p.Ile184Val)	ZNF180 (I184V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194223	NM_001278509.3(ZNF180):c.517G>A (p.Gly173Ser)	ZNF180 (G175S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335055	NM_001278509.3(ZNF180):c.515G>A (p.Ser172Asn)	ZNF180 (S198N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301709	NM_001278509.3(ZNF180):c.448G>A (p.Ala150Thr)	ZNF180 (A152T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520343	NM_001278509.3(ZNF180):c.445G>A (p.Val149Met)	ZNF180 (V175M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194222	NM_001278509.3(ZNF180):c.391T>C (p.Cys131Arg)	ZNF180 (C158R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194221	NM_001278509.3(ZNF180):c.353A>G (p.Asp118Gly)	ZNF180 (D144G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456021	NM_001278509.3(ZNF180):c.307G>T (p.Asp103Tyr)	ZNF180 (D130Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335056	NM_001278509.3(ZNF180):c.167G>A (p.Arg56Gln)	ZNF180 (R56Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2561080	NM_001278509.3(ZNF180):c.149T>G (p.Val50Gly)	ZNF180 (V50G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379082	NM_001278509.3(ZNF180):c.146T>C (p.Ile49Thr)	ZNF180 (I49T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276222	NM_001278509.3(ZNF180):c.137A>G (p.Asn46Ser)	ZNF180 (N72S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375087	NM_001278509.3(ZNF180):c.88G>A (p.Glu30Lys)	ZNF180 (E30K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333616	NM_001278509.3(ZNF180):c.69A>C (p.Gln23His)	ZNF180 (Q23H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335057	NM_001278509.3(ZNF180):c.40G>C (p.Val14Leu)	ZNF180 (V14L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601712	NM_001278509.3(ZNF180):c.13G>A (p.Asp5Asn)	ZNF180 (D32N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234180	NM_001278509.3(ZNF180):c.2T>C (p.Met1Thr)	ZNF180 (M1T +2 more)	Single nucleotide variant (missense variant +2 more)	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 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: 60