14340[HGNC] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2228888	NM_016226.5(VPS29):c.445T>A (p.Ser149Thr)	VPS29 (S149T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332232	NM_016226.5(VPS29):c.338C>T (p.Ser113Leu)	VPS29 (S117L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226151	NM_016226.5(VPS29):c.197A>G (p.Asn66Ser)	VPS29 (N66S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2665055	GRCh38/hg38 12q24.11(chr12:110494492-110512439)	LOC124819399, LOC130008747 +2 more	Copy number gain	not provided	GUncertain significance
Select item 3188893	NM_016226.5(VPS29):c.157G>A (p.Ala53Thr)	VPS29 (A85T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359517	NM_016226.5(VPS29):c.122G>C (p.Cys41Ser)	VPS29 (C45S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188892	NM_016226.5(VPS29):c.97C>A (p.His33Asn)	VPS29 (H33N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic