Related gene-specific medical variations for Gene (Select 5393) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2796861	NM_005033.3(EXOSC9):c.1235+16T>A	CCNA2, EXOSC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2783841	NM_005033.3(EXOSC9):c.1236-13G>A	CCNA2, EXOSC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2269299	NM_005033.3(EXOSC9):c.1282C>T (p.Pro428Ser)	CCNA2, EXOSC9 (P428S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2112128	NM_005033.3(EXOSC9):c.1301del (p.Lys434fs)	CCNA2, EXOSC9 (K434fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2106948	NM_005033.3(EXOSC9):c.1310C>A (p.Ala437Asp)	CCNA2, EXOSC9 (A437D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026046	NM_005033.3(EXOSC9):c.1307G>C (p.Arg436Thr)	CCNA2, EXOSC9 (R453T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943888	NM_005033.3(EXOSC9):c.1283_1303del (p.Pro428_Lys435delinsGln)	CCNA2, EXOSC9	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1522722	NM_001237.5(CCNA2):c.*784A>C	CCNA2, EXOSC9	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1520919	NM_005033.3(EXOSC9):c.1301AGA[1] (p.Lys435del)	CCNA2, EXOSC9 (K452del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1431474	NM_005033.3(EXOSC9):c.1313C>T (p.Ala438Val)	CCNA2, EXOSC9 (A455V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1249603	NM_005033.3(EXOSC9):c.1274G>C (p.Ser425Thr)	CCNA2, EXOSC9 (S425T +1 more)	Single nucleotide variant (missense variant +1 more)	EXOSC9-related condition +1 more	GBenign
Select item 1229339	NM_005033.3(EXOSC9):c.1236-54A>G	CCNA2, EXOSC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign