ZNF780B[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151011	GRCh37/hg19 19q13.2(chr19:40403192-40694875)x1	FCGBP, LOC112552149 +14 more	Copy number loss	See cases	GUncertain significance
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3259539	NM_001005851.3(ZNF780B):c.2450C>G (p.Pro817Arg)	ZNF780B (P817R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357022	NM_001005851.3(ZNF780B):c.2411A>G (p.Gln804Arg)	ZNF780B (Q804R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535678	NM_001005851.3(ZNF780B):c.2377C>T (p.His793Tyr)	ZNF780B (H793Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354467	NM_001005851.3(ZNF780B):c.2371A>G (p.Arg791Gly)	ZNF780B (R791G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259536	NM_001005851.3(ZNF780B):c.2325T>A (p.His775Gln)	ZNF780B (H775Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614841	NM_001005851.3(ZNF780B):c.2296T>A (p.Ser766Thr)	ZNF780B (S766T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198330	NM_001005851.3(ZNF780B):c.2248G>A (p.Glu750Lys)	ZNF780B (E750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198329	NM_001005851.3(ZNF780B):c.2225A>G (p.Gln742Arg)	ZNF780B (Q742R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198328	NM_001005851.3(ZNF780B):c.2167A>G (p.Lys723Glu)	ZNF780B (K723E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207824	NM_001005851.3(ZNF780B):c.2150G>A (p.Arg717Gln)	ZNF780B (R717Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259532	NM_001005851.3(ZNF780B):c.2039G>A (p.Arg680His)	ZNF780B (R680H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270544	NM_001005851.3(ZNF780B):c.2036G>T (p.Ser679Ile)	ZNF780B (S679I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372378	NM_001005851.3(ZNF780B):c.1888C>T (p.His630Tyr)	ZNF780B (H630Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280828	NM_001005851.3(ZNF780B):c.1805G>A (p.Arg602Gln)	ZNF780B (R602Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388120	NM_001005851.3(ZNF780B):c.1778C>G (p.Ala593Gly)	ZNF780B (A593G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348915	NM_001005851.3(ZNF780B):c.1741G>A (p.Gly581Arg)	ZNF780B (G581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474957	NM_001005851.3(ZNF780B):c.1705G>C (p.Gly569Arg)	ZNF780B (G569R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290856	NM_001005851.3(ZNF780B):c.1684T>C (p.Cys562Arg)	ZNF780B (C562R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517208	NM_001005851.3(ZNF780B):c.1535G>A (p.Arg512His)	ZNF780B (R512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619158	NM_001005851.3(ZNF780B):c.1469G>T (p.Arg490Leu)	ZNF780B (R490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259534	NM_001005851.3(ZNF780B):c.1382T>C (p.Ile461Thr)	ZNF780B (I461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394748	NM_001005851.3(ZNF780B):c.1331C>G (p.Pro444Arg)	ZNF780B (P444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198326	NM_001005851.3(ZNF780B):c.1306C>A (p.Gln436Lys)	LOC126862908, ZNF780B (Q436K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273737	NM_001005851.3(ZNF780B):c.1190C>G (p.Ser397Cys)	LOC126862908, ZNF780B (S397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240016	NM_001005851.3(ZNF780B):c.1176A>T (p.Lys392Asn)	LOC126862908, ZNF780B (K392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253198	NM_001005851.3(ZNF780B):c.1162C>T (p.Pro388Ser)	LOC126862908, ZNF780B (P388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198324	NM_001005851.3(ZNF780B):c.1028C>T (p.Thr343Ile)	LOC126862908, ZNF780B (T343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198323	NM_001005851.3(ZNF780B):c.1027A>G (p.Thr343Ala)	LOC126862908, ZNF780B (T343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455018	NM_001005851.3(ZNF780B):c.1022C>A (p.Ala341Asp)	LOC126862908, ZNF780B (A341D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259535	NM_001005851.3(ZNF780B):c.1001A>G (p.Glu334Gly)	LOC126862908, ZNF780B (E334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533313	NM_001005851.3(ZNF780B):c.1001A>C (p.Glu334Ala)	LOC126862908, ZNF780B (E334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560061	NM_001005851.3(ZNF780B):c.956A>C (p.Gln319Pro)	LOC126862908, ZNF780B (Q319P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259538	NM_001005851.3(ZNF780B):c.925G>A (p.Glu309Lys)	LOC126862908, ZNF780B (E309K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286275	NM_001005851.3(ZNF780B):c.883C>T (p.His295Tyr)	LOC126862908, ZNF780B (H295Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378726	NM_001005851.3(ZNF780B):c.872A>G (p.Asn291Ser)	LOC126862908, ZNF780B (N291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198334	NM_001005851.3(ZNF780B):c.793A>G (p.Thr265Ala)	LOC126862908, ZNF780B (T265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259537	NM_001005851.3(ZNF780B):c.788A>C (p.Asn263Thr)	LOC126862908, ZNF780B (N263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198333	NM_001005851.3(ZNF780B):c.725T>C (p.Ile242Thr)	LOC126862908, ZNF780B (I242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198332	NM_001005851.3(ZNF780B):c.723C>A (p.Asn241Lys)	LOC126862908, ZNF780B (N241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536017	NM_001005851.3(ZNF780B):c.692A>G (p.Asn231Ser)	LOC126862908, ZNF780B (N231S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331140	NM_001005851.3(ZNF780B):c.538C>G (p.Leu180Val)	LOC126862908, ZNF780B (L180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218434	NM_001005851.3(ZNF780B):c.347T>C (p.Phe116Ser)	LOC126862908, ZNF780B (F116S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588111	NM_001005851.3(ZNF780B):c.305A>T (p.His102Leu)	LOC126862908, ZNF780B (H102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198331	NM_001005851.3(ZNF780B):c.266C>G (p.Ser89Cys)	LOC126862908, ZNF780B (S89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296078	NM_001005851.3(ZNF780B):c.133C>G (p.Leu45Val)	ZNF780B (L45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198335	NM_001005851.3(ZNF780B):c.84G>C (p.Arg28Ser)	ZNF780B (R28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259533	NM_001005851.3(ZNF780B):c.38T>C (p.Ile13Thr)	ZNF780B (I13T)	Single nucleotide variant (missense variant)	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 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1526665	GRCh37/hg19 19q13.2(chr19:40374795-40699742)	FCGBP, MAP3K10 +4 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 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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 59