ClinVar for MedGen (Select 422452) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3600132	NM_024649.5(BBS1):c.1672A>C (p.Lys558Gln)	BBS1, ZDHHC24 (K558Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600130	NM_024649.5(BBS1):c.1667G>C (p.Ser556Thr)	BBS1, ZDHHC24 (S556T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600129	NM_024649.5(BBS1):c.1642dup (p.Leu548fs)	BBS1, ZDHHC24 (L548fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600128	NM_024649.5(BBS1):c.1607A>G (p.Lys536Arg)	BBS1, ZDHHC24 (K536R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600127	NM_024649.5(BBS1):c.1548_1551dup (p.Leu518fs)	BBS1, ZDHHC24 (L518fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600126	NM_024649.5(BBS1):c.1531del (p.Thr511fs)	BBS1, ZDHHC24 (T511fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600125	NM_024649.5(BBS1):c.1345C>T (p.His449Tyr)	BBS1, ZDHHC24 (H449Y)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600124	NM_024649.5(BBS1):c.1339+2T>A	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600123	NM_024649.5(BBS1):c.1285C>G (p.Arg429Gly)	BBS1, ZDHHC24 (R429G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600122	NM_024649.5(BBS1):c.1280T>C (p.Val427Ala)	BBS1, ZDHHC24 (V427A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600121	NM_024649.5(BBS1):c.1178_1179delinsATGAGT (p.Arg393fs)	BBS1, ZDHHC24 (R393fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600120	NM_024649.5(BBS1):c.1156A>G (p.Asn386Asp)	BBS1, ZDHHC24 (N386D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600119	NM_024649.5(BBS1):c.1022G>C (p.Arg341Pro)	BBS1, ZDHHC24 (R341P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600118	NM_024649.5(BBS1):c.1020C>T (p.Ser340=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600117	NM_024649.5(BBS1):c.954del	BBS1, ZDHHC24	Deletion (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600115	NM_024649.5(BBS1):c.886A>T (p.Ile296Phe)	BBS1, ZDHHC24 (I296F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600114	NM_024649.5(BBS1):c.882A>T (p.Gly294=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600113	NM_024649.5(BBS1):c.868G>A (p.Ala290Thr)	BBS1, ZDHHC24 (A290T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600112	NM_024649.5(BBS1):c.724-1G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600111	NM_024649.5(BBS1):c.680A>T (p.Glu227Val)	BBS1 (E227V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600110	NM_024649.5(BBS1):c.618GAA[2] (p.Lys208del)	BBS1 (K208del)	Microsatellite	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600109	NM_024649.5(BBS1):c.582C>G (p.Ile194Met)	BBS1 (I194M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600108	NM_024649.5(BBS1):c.545T>C (p.Met182Thr)	BBS1 (M182T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600107	NM_024649.5(BBS1):c.424del (p.Ala142fs)	BBS1 (A142fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3600106	NM_024649.5(BBS1):c.326G>A (p.Gly109Asp)	BBS1 (G109D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600105	NM_024649.5(BBS1):c.313G>A (p.Ala105Thr)	BBS1 (A105T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600103	NM_024649.5(BBS1):c.295C>A (p.Pro99Thr)	BBS1 (P99T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600102	NM_024649.5(BBS1):c.250G>A (p.Ala84Thr)	BBS1 (A84T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600101	NM_024649.5(BBS1):c.221C>T (p.Pro74Leu)	BBS1 (P74L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600099	NM_024649.5(BBS1):c.145G>C (p.Asp49His)	BBS1 (D49H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600098	NM_024649.5(BBS1):c.19T>A (p.Ser7Thr)	BBS1 (S7T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3600097	NM_024649.5(BBS1):c.2T>G (p.Met1Arg)	BBS1 (M1R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GPathogenic
Select item 3589694	NM_001278293.3(ARL6):c.498del (p.Gly167fs)	ARL6 (G167fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 55 +2 more	GLikely pathogenic
Select item 3589693	NM_001278293.3(ARL6):c.480-2A>C	ARL6	Single nucleotide variant (non-coding transcript variant +2 more)	Retinitis pigmentosa 55 +2 more	GLikely pathogenic
Select item 3589691	NM_001278293.3(ARL6):c.306G>C (p.Met102Ile)	ARL6 (M102I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +2 more	GUncertain significance
Select item 3589690	NM_001278293.3(ARL6):c.212C>T (p.Ser71Leu)	ARL6 (S71L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +2 more	GUncertain significance
Select item 3589689	NM_001278293.3(ARL6):c.95C>T (p.Thr32Met)	ARL6 (T32M)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +2 more	GUncertain significance
Select item 3589687	NM_001278293.3(ARL6):c.68T>C (p.Leu23Pro)	ARL6 (L23P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +2 more	GLikely pathogenic
Select item 3589686	NM_001278293.3(ARL6):c.51G>C (p.Glu17Asp)	ARL6 (E17D)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +2 more	GUncertain significance
Select item 3589685	NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter)	ARL6 (L10*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 55 +2 more	GLikely pathogenic
Select item 3589684	NM_001278293.3(ARL6):c.-13_12dup (p.Asp5fs)	ARL6 (D5fs)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 55 +2 more	GUncertain significance
Select item 3583637	NM_024296.5(CCDC28B):c.97C>A (p.His33Asn)	CCDC28B (H33N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3356242	NM_024649.5(BBS1):c.952-9C>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3352418	NM_024649.5(BBS1):c.784C>T (p.Arg262Trp)	BBS1, ZDHHC24 (R262W)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3248609	NM_024649.5(BBS1):c.159+23G>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3248569	NM_024649.5(BBS1):c.1110+30_1110+33del	BBS1, ZDHHC24	Microsatellite (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3240863	NM_024649.5(BBS1):c.795_804dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240862	NM_024649.5(BBS1):c.106_107del (p.Thr36fs)	BBS1 (T36fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240861	NM_024649.5(BBS1):c.69G>A (p.Trp23Ter)	BBS1 (W23*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3133146	NM_024649.5(BBS1):c.192G>T (p.Gln64His)	BBS1 (Q64H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 3042727	NM_024649.5(BBS1):c.172G>C (p.Asp58His)	BBS1 (D58H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 2862708	NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2700814	NM_024649.5(BBS1):c.667del (p.Thr223fs)	BBS1 (T223fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679961	NM_024649.5(BBS1):c.47+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679960	NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)	BBS1, ZDHHC24 (R341fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679959	NM_024649.5(BBS1):c.951+2T>G	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679957	NM_024649.5(BBS1):c.723+2T>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679956	NM_024649.5(BBS1):c.46dup (p.Ser16fs)	BBS1 (S16fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679954	NM_024649.5(BBS1):c.591+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679953	NM_024649.5(BBS1):c.723+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 2679952	NM_024649.5(BBS1):c.1181_1191del	BBS1, ZDHHC24	Deletion (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679951	NM_024649.5(BBS1):c.70_73del (p.Leu24fs)	BBS1 (L24fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679949	NM_024649.5(BBS1):c.855dup (p.Ile286fs)	BBS1, ZDHHC24 (I286fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679948	NM_024649.5(BBS1):c.579dup (p.Ile194fs)	BBS1 (I194fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679947	NM_024649.5(BBS1):c.830+1G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2629363	NM_024649.5(BBS1):c.1022G>A (p.Arg341Gln)	BBS1, ZDHHC24 (R341Q)	Single nucleotide variant (missense variant +1 more)	BBS1-related disorder +1 more	GUncertain significance
Select item 2585615	NM_024649.5(BBS1):c.951+1G>C	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2502907	NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)	BBS2 (V510F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2502906	NM_152618.3(BBS12):c.1685del (p.Asn562fs)	BBS12 (N562fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GPathogenic
Select item 2502905	GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1	BBS1, DPP3	Copy number loss	Bardet-Biedl syndrome 1	GPathogenic
Select item 2502904	NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)	LOC126862183, SCAPER (R1098Q +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 2502903	GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1	BBS4	Copy number loss	Bardet-Biedl syndrome 1	GPathogenic
Select item 2439473	NM_024649.5(BBS1):c.480-28G>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 2421121	NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn)	BBS1, ZDHHC24 (S574N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2311652	NM_024649.5(BBS1):c.369G>C (p.Lys123Asn)	BBS1 (K123N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2310065	NM_024649.5(BBS1):c.667A>G (p.Thr223Ala)	BBS1 (T223A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2188643	NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)	ARL6 (I51T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GUncertain significance
Select item 2185115	NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)	BBS1 (E51A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 2181310	NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)	BBS1, ZDHHC24 (R297W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2175175	NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)	BBS1 (R100W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 2172363	NM_024649.5(BBS1):c.1076G>A (p.Arg359His)	BBS1, ZDHHC24 (R359H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2140380	NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)	ZDHHC24, BBS1 (V415G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 2098720	NM_024649.5(BBS1):c.723+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2082508	NM_024649.5(BBS1):c.290A>G (p.His97Arg)	BBS1 (H97R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2079933	NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)	BBS1 (A142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2057607	NM_024649.5(BBS1):c.3G>A (p.Met1Ile)	BBS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2044326	NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)	BBS1 (R100Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 2042834	NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)	ARL6 (V103A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GUncertain significance
Select item 2040498	NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)	ARL6 (V18I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2030272	NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)	BBS1, ZDHHC24 (Y467*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1983795	NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)	BBS1, ZDHHC24 (A490T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1946482	NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)	BBS1, ZDHHC24 (R262Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GUncertain significance
Select item 1803926	NM_024649.5(BBS1):c.1339+163G>A	BBS1, ZDHHC24 (T258M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 1726456	NM_024649.5(BBS1):c.734_735del (p.Pro245fs)	BBS1, ZDHHC24 (P245fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1726144	NM_024649.5(BBS1):c.434dup (p.Asp145fs)	BBS1 (D145fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1725267	NM_024649.5(BBS1):c.1253del (p.Pro418fs)	BBS1, ZDHHC24 (P418fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724999	NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)	BBS1, ZDHHC24 (K500*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724685	NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)	BBS1, ZDHHC24 (T405fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724447	NM_024649.5(BBS1):c.1009del (p.Glu337fs)	BBS1, ZDHHC24 (E337fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724231	NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)	BBS1, ZDHHC24 (W322*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic

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