"Ambry Genetics"[submitter] AND "BOLL"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2353231	NM_033030.6(BOLL):c.800C>T (p.Ala267Val)	BOLL (A267V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290520	NM_033030.6(BOLL):c.763C>T (p.His255Tyr)	BOLL (H146Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266426	NM_033030.6(BOLL):c.595C>T (p.Pro199Ser)	BOLL (P205S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338225	NM_033030.6(BOLL):c.514G>C (p.Ala172Pro)	BOLL (A184P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273312	NM_033030.6(BOLL):c.493T>G (p.Cys165Gly)	BOLL (C165G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227320	NM_033030.6(BOLL):c.467C>T (p.Pro156Leu)	BOLL (P156L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603696	NM_033030.6(BOLL):c.359G>C (p.Ser120Thr)	BOLL (S132T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550788	NM_033030.6(BOLL):c.242A>G (p.Glu81Gly)	BOLL (E81G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277842	NM_033030.6(BOLL):c.46G>A (p.Val16Met)	BOLL (V16M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance