"PreventionGenetics, part of Exact Sciences"[submitter] AND "BCAP31"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029036	NM_001256447.2(BCAP31):c.703G>A (p.Ala235Thr)	BCAP31 (A235T +1 more)	Single nucleotide variant (missense variant)	BCAP31-related disorder	GUncertain significance
Select item 705775	NM_001256447.2(BCAP31):c.601+9C>T	BCAP31	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 702727	NM_001256447.2(BCAP31):c.384G>A (p.Thr128=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 235341	NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)	BCAP31 (T128M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1590324	NM_001256447.2(BCAP31):c.81T>C (p.Ile27=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3049953	NM_001256447.2(BCAP31):c.-12_-10del	BCAP31 (S65del)	Deletion (5 prime UTR variant +1 more)	BCAP31-related disorder	GLikely benign
Select item 2350910	NM_001256447.2(BCAP31):c.-44-238C>T	BCAP31 (H47Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2635594	NM_001256447.2(BCAP31):c.-44-256G>T	BCAP31 (A41S)	Single nucleotide variant (missense variant +1 more)	BCAP31-related disorder	GUncertain significance
Select item 3030873	NM_001256447.2(BCAP31):c.-44-322C>T	BCAP31 (R19C)	Single nucleotide variant (missense variant +1 more)	BCAP31-related disorder	GLikely benign