"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BBIP1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1044270	NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln)	BBIP1 (R63Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1364265	NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs)	BBIP1 (E62fs +2 more)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1054810	NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)	BBIP1 (R53H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 949986	NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn)	BBIP1 (K37N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1359437	NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln)	BBIP1 (K37Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1149900	NM_001195305.3(BBIP1):c.168A>G (p.Leu56=)	BBIP1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GLikely benign
Select item 933603	NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup)	BBIP1	Duplication (inframe_insertion)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1158943	NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)	BBIP1 (V103M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GLikely benign
Select item 1501977	NM_001195305.3(BBIP1):c.142A>G (p.Met48Val)	BBIP1 (M26V +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 18 +3 more	GUncertain significance
Select item 935918	NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr)	BBIP1 (M24T +2 more)	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GConflicting classifications of pathogenicity
Select item 965990	NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu)	BBIP1 (P14L +2 more)	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 1513559	NM_001195305.3(BBIP1):c.85A>G (p.Met29Val)	BBIP1 (M7V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance
Select item 968181	NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys)	BBIP1 (I17K +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GUncertain significance
Select item 939645	NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser)	BBIP1 (T16S +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 18 +2 more	GUncertain significance
Select item 951609	NM_001195305.3(BBIP1):c.37+3A>T	BBIP1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 18 +1 more	GUncertain significance