Related gene-specific medical variations for Gene (Select 10060) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063228	GRCh37/hg19 12p12.1(chr12:22059874-22080237)x1	ABCC9	Copy number loss	not specified	GUncertain significance
Select item 2663857	NM_020297.4(ABCC9):c.2954A>C (p.Tyr985Ser)	ABCC9 (Y696S +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GPathogenic
Select item 2438744	NM_020297.4(ABCC9):c.3893A>T (p.Asp1298Val)	ABCC9 (D1009V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527695	GRCh37/hg19 12p12.1(chr12:22023587-22086710)	ABCC9	Copy number loss	not specified	GUncertain significance
Select item 973522	NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro)	ABCC9 (A775P +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 806843	NM_020297.4(ABCC9):c.3487C>T (p.Leu1163Phe)	ABCC9 (L1163F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636608	NM_020297.4(ABCC9):c.158del (p.Ser53fs)	ABCC9 (S53fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 618500	NM_020297.4(ABCC9):c.2848A>T (p.Met950Leu)	ABCC9 (M950L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618499	NM_020297.4(ABCC9):c.1616C>G (p.Ser539Cys)	ABCC9 (S539C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261215	NM_020297.4(ABCC9):c.2355A>T (p.Thr785=)	ABCC9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign