ClinVar for Gene (Select 25832) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3388296	Single allele	NBPF14	Single nucleotide variant	not provided	GLikely benign
Select item 3242445	GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3	ACP6, BCL9 +62 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 3239219	NM_001395631.1(NBPF14):c.8799G>A (p.Pro2933=)	NBPF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 3024819	Single allele	NBPF14	Single nucleotide variant	not provided	GLikely benign
Select item 2639136	Single allele	NBPF14	Single nucleotide variant	not provided	GLikely benign
Select item 2639135	Single allele	NBPF14	Single nucleotide variant	not provided	GLikely benign
Select item 2639134	Single allele	NBPF14	Single nucleotide variant	not provided	GLikely benign
Select item 2639133	Single allele	NBPF14	Single nucleotide variant	not provided	GLikely benign
Select item 2639132	NM_001395631.1(NBPF14):c.8752G>A (p.Glu2918Lys)	NBPF14 (E2749K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639131	NM_001395631.1(NBPF14):c.8761G>A (p.Val2921Ile)	NBPF14 (V2752I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639130	NM_001395631.1(NBPF14):c.8839A>C (p.Arg2947=)	NBPF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 155702	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 155678	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 155579	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 155545	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	RNVU1-1, RNVU1-27 +61 more	Copy number loss	See cases	GPathogenic
Select item 155466	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 155442	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 155421	GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4	ACP6, BCL9 +67 more	Copy number gain	See cases	GPathogenic
Select item 155305	GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 155237	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	CHD1L, FMO5 +61 more	Copy number loss	See cases	GPathogenic
Select item 155061	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 154049	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 153963	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153883	GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 153881	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153748	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 153679	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 153549	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 152837	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 152673	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 152341	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 151215	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 146162	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 146009	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 144815	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	LOC101927468, LOC106783502 +133 more	Copy number gain	See cases	GPathogenic
Select item 59857	GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1	LOC129931369, MIR5087 +69 more	Copy number loss	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	MIR5087, MIR6077 +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 70