"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "BBS9"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 462942	NC_000007.13:g.(?_33185845)_(33185996_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 216143	NM_198428.2(BBS9):c.(?_-1)_328+?del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 2976679	NM_198428.3(BBS9):c.9A>G (p.Leu3=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1060829	NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr)	BBS9 (F4Y)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1002840	NM_198428.3(BBS9):c.11T>G (p.Phe4Cys)	BBS9 (F4C)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2094725	NM_198428.3(BBS9):c.18C>T (p.Ala6=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1963991	NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)	BBS9 (R7S)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 844363	NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)	BBS9 (R7C)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1501963	NM_198428.3(BBS9):c.20G>A (p.Arg7His)	BBS9 (R7H)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1047102	NM_198428.3(BBS9):c.20G>C (p.Arg7Pro)	BBS9 (R7P)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 858504	NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)	BBS9 (R7L)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 2919928	NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)	BBS9 (W9*)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1995074	NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)	BBS9 (W9C)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 263130	NM_198428.3(BBS9):c.34A>G (p.Thr12Ala)	BBS9 (T12A)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GBenign
Select item 2957262	NM_198428.3(BBS9):c.36T>C (p.Thr12=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1506899	NM_198428.3(BBS9):c.49_51del (p.Lys17del)	BBS9 (K17del)	Deletion (inframe_deletion +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1021482	NM_198428.3(BBS9):c.49A>G (p.Lys17Glu)	BBS9 (K17E)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 649884	NM_198428.3(BBS9):c.58T>G (p.Phe20Val)	BBS9 (F20V)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2188437	NM_198428.3(BBS9):c.60T>A (p.Phe20Leu)	BBS9 (F20L)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1960921	NM_198428.3(BBS9):c.61G>C (p.Asp21His)	BBS9 (D21H)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1041804	NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr)	BBS9 (C24Y)	Single nucleotide variant (non-coding transcript variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 938892	NM_198428.3(BBS9):c.83C>T (p.Ala28Val)	BBS9 (A28V)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2142981	NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)	BBS9 (G34E)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2824405	NM_198428.3(BBS9):c.102A>G (p.Gly34=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1024588	NM_198428.3(BBS9):c.102A>T (p.Gly34=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1101003	NM_198428.3(BBS9):c.105T>C (p.Asn35=)	BBS9	Single nucleotide variant (intron variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1642454	NM_198428.3(BBS9):c.112+11T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1608499	NM_198428.3(BBS9):c.112+13C>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015678	NM_198428.3(BBS9):c.112+18A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2117231	NM_198428.3(BBS9):c.112+19T>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2053612	NM_198428.3(BBS9):c.112+21_112+22del	BBS9	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2744277	NM_198428.3(BBS9):c.113-17_113-16insG	BBS9	Insertion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1111442	NM_198428.3(BBS9):c.113-14T>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1136643	NM_198428.3(BBS9):c.113-13A>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1101436	NM_198428.3(BBS9):c.113-9T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 770737	NM_198428.3(BBS9):c.113-8C>T	BBS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770738	NM_198428.3(BBS9):c.113-6C>T	BBS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992286	NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)	BBS9 (D38E)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1064082	NM_198428.3(BBS9):c.122T>G (p.Ile41Ser)	BBS9 (I41S)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1720376	NM_198428.3(BBS9):c.136A>T (p.Met46Leu)	BBS9 (M1L +1 more)	Single nucleotide variant (missense variant +4 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 640590	NM_198428.3(BBS9):c.138G>A (p.Met46Ile)	BBS9 (M1I +1 more)	Single nucleotide variant (missense variant +4 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 3013492	NM_198428.3(BBS9):c.144C>T (p.Tyr48=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 941074	NM_198428.3(BBS9):c.145C>G (p.Leu49Val)	BBS9 (L4V +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 957322	NM_198428.3(BBS9):c.155T>G (p.Phe52Cys)	BBS9 (F52C +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2106863	NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)	BBS9 (P54T +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2836803	NM_198428.3(BBS9):c.165T>C (p.His55=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 851231	NM_198428.3(BBS9):c.174A>G (p.Lys58=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1427492	NM_198428.3(BBS9):c.176C>A (p.Thr59Lys)	BBS9 (T14K +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3011012	NM_198428.3(BBS9):c.177A>G (p.Thr59=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 983094	NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)	BBS9 (Q19* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 1135979	NM_198428.3(BBS9):c.195C>A (p.Ala65=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 695552	NM_198428.3(BBS9):c.195C>T (p.Ala65=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 1920447	NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)	BBS9 (E21K +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2891307	NM_198428.3(BBS9):c.198A>G (p.Glu66=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2754247	NM_198428.3(BBS9):c.201T>C (p.Asp67=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1041516	NM_198428.3(BBS9):c.205C>A (p.Leu69Ile)	BBS9 (L24I +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1011247	NM_198428.3(BBS9):c.206T>C (p.Leu69Pro)	BBS9 (L24P +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2845074	NM_198428.3(BBS9):c.207T>C (p.Leu69=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2852348	NM_198428.3(BBS9):c.213A>G (p.Glu71=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1384831	NM_198428.3(BBS9):c.214G>A (p.Val72Met)	BBS9 (V72M +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 975060	NM_198428.3(BBS9):c.214del (p.Val72fs)	BBS9 (V27fs +1 more)	Deletion (frameshift variant +3 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2805074	NM_198428.3(BBS9):c.222A>G (p.Leu74=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 266106	NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)	BBS9 (R75* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 2781666	NM_198428.3(BBS9):c.228T>C (p.Asp76=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1116576	NM_198428.3(BBS9):c.231A>G (p.Pro77=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1407455	NM_198428.3(BBS9):c.244del (p.Glu82fs)	BBS9 (E82fs +1 more)	Deletion (frameshift variant +3 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2696989	NM_198428.3(BBS9):c.249A>C (p.Val83=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1109498	NM_198428.3(BBS9):c.249A>T (p.Val83=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1010263	NM_198428.3(BBS9):c.251G>A (p.Gly84Glu)	BBS9 (G39E +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2043882	NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)	BBS9 (K85Q +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1413469	NM_198428.3(BBS9):c.259G>A (p.Val87Ile)	BBS9 (V87I +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1112982	NM_198428.3(BBS9):c.261T>G (p.Val87=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1479571	NM_198428.3(BBS9):c.263C>T (p.Ser88Leu)	BBS9 (S43L +1 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 191219	NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)	BBS9 (S88* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1400532	NM_198428.3(BBS9):c.263+1G>T	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 412264	NM_198428.3(BBS9):c.263+1G>A	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 585195	NM_198428.3(BBS9):c.263+4A>G	BBS9	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2712077	NM_198428.3(BBS9):c.263+13A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1644952	NM_198428.3(BBS9):c.263+13A>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2864512	NM_198428.3(BBS9):c.263+16A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2795483	NM_198428.3(BBS9):c.264-16T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2955554	NM_198428.3(BBS9):c.264-11_264-10del	BBS9	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2764534	NM_198428.3(BBS9):c.264-14T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1100270	NM_198428.3(BBS9):c.264-14T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2780174	NM_198428.3(BBS9):c.264-12T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2767827	NM_198428.3(BBS9):c.264-11C>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2843074	NM_198428.3(BBS9):c.264-10T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2169915	NM_198428.3(BBS9):c.264-4T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 263128	NM_198428.3(BBS9):c.270C>T (p.Thr90=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 2805564	NM_198428.3(BBS9):c.279A>G (p.Leu93=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2859740	NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	BBS9	Indel (splice donor variant +1 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 462970	NM_198428.3(BBS9):c.310del (p.Cys104fs)	BBS9 (C104fs +2 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1083402	NM_198428.3(BBS9):c.312T>C (p.Cys104=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1529009	NM_198428.3(BBS9):c.315C>G (p.Val105=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2842113	NM_198428.3(BBS9):c.319dup (p.Ser107fs)	BBS9 (S16fs +2 more)	Duplication (frameshift variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1622769	NM_198428.3(BBS9):c.318C>T (p.Tyr106=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1655953	NM_198428.3(BBS9):c.321T>G (p.Ser107=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2177659	NM_198428.3(BBS9):c.324C>A (p.Val108=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1166712	NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT	BBS9	Insertion (intron variant)	Bardet-Biedl syndrome	GBenign
Select item 1967197	NM_198428.3(BBS9):c.328+7A>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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