"Blueprint Genetics"[submitter] AND "BBS12"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555505	NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	BBS12 (P159L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 555983	NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	BBS12 (E254*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 867113	NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)	BBS12 (Y263*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 551644	NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)	BBS12 (E288del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12 +2 more	GUncertain significance
Select item 1150	NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	BBS12 (A289P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GConflicting classifications of pathogenicity
Select item 347497	NM_152618.3(BBS12):c.1092del (p.Glu365fs)	BBS12 (E365fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1151	NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 444641	NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	BBS12 (L413V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GConflicting classifications of pathogenicity
Select item 866376	NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	BBS12 (V465A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 585190	NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	BBS12 (T501M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 434492	NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	BBS12	Deletion (inframe_deletion)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 865926	NM_152618.3(BBS12):c.1763T>G (p.Leu588Arg)	BBS12 (L588R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866623	NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	BBS12 (P632fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 281596	NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	BBS12 (R674C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity