Related gene-specific medical variations for Gene (Select 57519) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665077	NM_020759.3(STARD9):c.11959C>T (p.Gln3987Ter)	STARD9 (Q3987*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1341916	NM_020759.3(STARD9):c.1771-2A>T	STARD9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1341861	NM_020759.3(STARD9):c.12853C>T (p.Gln4285Ter)	STARD9 (Q4285*)	Single nucleotide variant (nonsense)	STARD9-related Intellectual Disability	GUncertain significance
Select item 1341721	NM_020759.3(STARD9):c.5368dup (p.Gln1790fs)	STARD9 (Q1790fs)	Duplication (frameshift variant)	See cases	GUncertain significance
Select item 1340877	GRCh37/hg19 15q15.2(chr15:42863106-42928900)x1	STARD9	Copy number loss	not provided	GUncertain significance
Select item 1184288	NM_020759.3(STARD9):c.11233dup (p.Leu3745fs)	STARD9 (L3745fs)	Duplication (frameshift variant)	See cases	GUncertain significance

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