HVCN1[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +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 2408039	NM_032369.4(HVCN1):c.797A>G (p.His266Arg)	HVCN1 (H246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488738	NM_032369.4(HVCN1):c.713T>C (p.Leu238Ser)	HVCN1 (L218S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251879	NM_032369.4(HVCN1):c.704A>G (p.Asn235Ser)	HVCN1 (N215S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553899	NM_032369.4(HVCN1):c.535G>A (p.Val179Met)	HVCN1 (V159M +1 more)	Single nucleotide variant (missense variant)	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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic