ClinVar for Gene (Select 339324) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335278	NM_001166037.2(ZNF260):c.119A>C (p.Gln40Pro)	ZNF260 (Q40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335277	NM_001166037.2(ZNF260):c.1022T>A (p.Phe341Tyr)	ZNF260 (F341Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335276	NM_001166037.2(ZNF260):c.272C>A (p.Ala91Asp)	ZNF260 (A91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335275	NM_001166037.2(ZNF260):c.685T>C (p.Phe229Leu)	ZNF260 (F229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194734	NM_001166037.2(ZNF260):c.89A>G (p.Asn30Ser)	ZNF260 (N30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194733	NM_001166037.2(ZNF260):c.890T>C (p.Ile297Thr)	ZNF260 (I297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194732	NM_001166037.2(ZNF260):c.74A>T (p.Lys25Ile)	ZNF260 (K25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194731	NM_001166037.2(ZNF260):c.703C>G (p.Leu235Val)	ZNF260 (L235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194730	NM_001166037.2(ZNF260):c.421T>A (p.Cys141Ser)	ZNF260 (C141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194729	NM_001166037.2(ZNF260):c.413G>A (p.Cys138Tyr)	ZNF260 (C138Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194728	NM_001166037.2(ZNF260):c.346G>C (p.Val116Leu)	ZNF260 (V116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194727	NM_001166037.2(ZNF260):c.289A>G (p.Asn97Asp)	ZNF260 (N97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194725	NM_001166037.2(ZNF260):c.233C>T (p.Thr78Ile)	ZNF260 (T78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194724	NM_001166037.2(ZNF260):c.115A>G (p.Lys39Glu)	ZNF260 (K39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194723	NM_001166037.2(ZNF260):c.1079A>G (p.Tyr360Cys)	ZNF260 (Y360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194722	NM_001166037.2(ZNF260):c.1052T>A (p.Met351Lys)	ZNF260 (M351K)	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 2685636	GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1	ZFP14, ZFP82 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2623263	NM_001166037.2(ZNF260):c.58A>G (p.Ile20Val)	ZNF260 (I20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609688	NM_001166037.2(ZNF260):c.377A>T (p.His126Leu)	ZNF260 (H126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556516	NM_001166037.2(ZNF260):c.29A>G (p.His10Arg)	ZNF260 (H10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539847	NM_001166037.2(ZNF260):c.449A>G (p.Tyr150Cys)	ZNF260 (Y150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529724	NM_001166037.2(ZNF260):c.1010G>A (p.Cys337Tyr)	ZNF260 (C337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525009	NM_001166037.2(ZNF260):c.911A>G (p.Tyr304Cys)	ZNF260 (Y304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496533	NM_001166037.2(ZNF260):c.493G>A (p.Glu165Lys)	ZNF260 (E165K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410667	NM_001166037.2(ZNF260):c.401A>C (p.Lys134Thr)	ZNF260 (K134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410657	NM_001166037.2(ZNF260):c.323A>G (p.Glu108Gly)	ZNF260 (E108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408147	NM_001166037.2(ZNF260):c.337T>G (p.Cys113Gly)	ZNF260 (C113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324510	NM_001166037.2(ZNF260):c.23T>G (p.Leu8Arg)	ZNF260 (L8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302977	NM_001166037.2(ZNF260):c.23T>C (p.Leu8Pro)	ZNF260 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302071	NM_001166037.2(ZNF260):c.719G>A (p.Arg240Lys)	ZNF260 (R240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279098	NM_001166037.2(ZNF260):c.469A>G (p.Ile157Val)	ZNF260 (I157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252104	NM_001166037.2(ZNF260):c.700A>G (p.Ser234Gly)	ZNF260 (S234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526662	GRCh37/hg19 19q13.12(chr19:36910874-37705345)	ZNF260, ZNF345 +12 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 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47