"CASP9-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043218	NM_001229.5(CASP9):c.1152G>C (p.Leu384=)	CASP9	Single nucleotide variant (synonymous variant +1 more)	CASP9-related disorder	GLikely benign
Select item 782360	NM_001229.5(CASP9):c.1097C>A (p.Thr366Asn)	CASP9 (T366N +2 more)	Single nucleotide variant (missense variant +1 more)	CASP9-related disorder +1 more	GBenign
Select item 3053478	NM_001229.5(CASP9):c.721-5T>C	CASP9	Single nucleotide variant (intron variant)	CASP9-related disorder	GBenign
Select item 777920	NM_001229.5(CASP9):c.720+9C>T	CASP9	Single nucleotide variant (intron variant)	CASP9-related disorder +1 more	GBenign/Likely benign
Select item 2638292	NM_001229.5(CASP9):c.711C>T (p.His237=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder +1 more	GLikely benign
Select item 3059116	NM_001229.5(CASP9):c.662A>G (p.Gln221Arg)	CASP9 (Q138R +1 more)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GBenign
Select item 3048458	NM_001229.5(CASP9):c.660G>A (p.Ala220=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder	GLikely benign
Select item 727713	NM_001229.5(CASP9):c.525C>T (p.Ser175=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3041435	NM_001229.5(CASP9):c.518G>A (p.Arg173His)	CASP9 (R173H +1 more)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GBenign
Select item 3034388	NM_001229.5(CASP9):c.469A>G (p.Met157Val)	CASP9 (M157V +1 more)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GLikely benign
Select item 3060608	NM_001229.5(CASP9):c.453+8T>C	CASP9	Single nucleotide variant (intron variant)	CASP9-related disorder	GBenign
Select item 3058888	NM_001229.5(CASP9):c.408T>C (p.Phe136=)	CASP9	Single nucleotide variant (synonymous variant +1 more)	CASP9-related disorder	GBenign
Select item 3057686	NM_001229.5(CASP9):c.327G>A (p.Val109=)	CASP9	Single nucleotide variant (synonymous variant +1 more)	CASP9-related disorder	GLikely benign
Select item 3042052	NM_001229.5(CASP9):c.305C>T (p.Thr102Ile)	CASP9 (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	CASP9-related disorder	GBenign
Select item 3050328	NM_001229.5(CASP9):c.130C>G (p.Gln44Glu)	CASP9 (Q44E)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder	GBenign
Select item 3059411	NM_001229.5(CASP9):c.93C>T (p.Ser31=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder	GBenign
Select item 1275295	NM_001229.5(CASP9):c.83C>T (p.Ala28Val)	CASP9 (A28V)	Single nucleotide variant (missense variant +2 more)	CASP9-related disorder +1 more	GBenign
Select item 3052276	NM_001229.5(CASP9):c.24C>T (p.Leu8=)	CASP9	Single nucleotide variant (synonymous variant +2 more)	CASP9-related disorder	GBenign