"Genome-Nilou Lab"[submitter] AND "ABCC9"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261216	NM_020297.4(ABCC9):c.2769+28A>C	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45402	NM_020297.4(ABCC9):c.2199-11=	ABCC9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 671057	NM_020297.4(ABCC9):c.1912-66G>A	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GBenign
Select item 261214	NM_020297.4(ABCC9):c.1660-43C>A	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1188880	NM_020297.4(ABCC9):c.1660-66G>A	ABCC9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 45386	NM_020297.4(ABCC9):c.1296= (p.Pro432=)	ABCC9	Single nucleotide variant (no sequence alteration)	Cardiovascular phenotype +5 more	GBenign
Select item 261213	NM_020297.4(ABCC9):c.1164+23=	ABCC9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 45384	NM_020297.4(ABCC9):c.1164+11=	ABCC9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1188881	NM_020297.4(ABCC9):c.1012-59T>C	ABCC9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188882	NM_020297.4(ABCC9):c.1011+100dup	ABCC9	Duplication (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +1 more	GBenign
Select item 45419	NM_020297.4(ABCC9):c.574-5C>A	ABCC9	Single nucleotide variant (intron variant)	Hypertrichotic osteochondrodysplasia Cantu type +4 more	GBenign
Select item 681183	NM_020297.4(ABCC9):c.406+305A>T	ABCC9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 261217	NM_020297.4(ABCC9):c.406+38A>C	ABCC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign