ClinVar for Gene (Select 27241) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245920	NC_000007.13:g.(?_33054342)_(33192483_?)dup	BBS9, NT5C3A +1 more	Duplication	not provided	GUncertain significance
Select item 3245740	NC_000007.13:g.(?_33185923)_(33193039_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245739	NC_000007.13:g.(?_33388660)_(33397627_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245738	NC_000007.13:g.(?_33296828)_(33297042_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245737	NC_000007.13:g.(?_33423258)_(33427776_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245736	NC_000007.13:g.(?_33384173)_(33390955_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245735	NC_000007.13:g.(?_33376033)_(33388802_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245733	NC_000007.13:g.(?_33296828)_(33297042_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245732	NC_000007.13:g.(?_33185865)_(33185996_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245731	NC_000007.13:g.(?_33185865)_(33644838_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3242546	NM_198428.3(BBS9):c.677_678dup (p.Leu227fs)	BBS9 (L105fs +3 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3242528	Single allele	BBS9	Deletion	Bardet-Biedl syndrome 9	GPathogenic
Select item 3240911	NM_198428.3(BBS9):c.1790-2A>T	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240910	NM_198428.3(BBS9):c.703-1G>A	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240909	NM_198428.3(BBS9):c.1705C>T (p.Gln569Ter)	BBS9 (Q412* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240908	NM_198428.3(BBS9):c.1720C>T (p.Gln574Ter)	BBS9 (Q417* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240907	NM_198428.3(BBS9):c.544_545insTC (p.Gly182fs)	BBS9 (G137fs +3 more)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240906	NM_198428.3(BBS9):c.1903del (p.Ser635fs)	BBS9 (S478fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240905	NM_198428.3(BBS9):c.302del (p.Arg101fs)	BBS9 (R101fs +2 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3240904	NM_198428.3(BBS9):c.2349C>A (p.Cys783Ter)	BBS9 (C600* +9 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3239138	NM_198428.3(BBS9):c.1017-22175T>A	BBS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3236397	NM_198428.3(BBS9):c.2014C>T (p.Gln672Ter)	BBS9 (Q515* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3133180	NM_198428.3(BBS9):c.88G>A (p.Val30Ile)	BBS9 (V30I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3133178	NM_198428.3(BBS9):c.332C>T (p.Thr111Ile)	BBS9 (T66I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3068839	NC_000007.13:g.(?_33169175)_(33185977_33192312)dup	BBS9	Duplication	not specified	GUncertain significance
Select item 3064084	NM_198428.3(BBS9):c.1553-1G>A	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3063865	NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062965	GRCh37/hg19 7p14.3(chr7:33293316-33347833)x1	BBS9	Copy number loss	not specified	GUncertain significance
Select item 3059757	NM_001348041.4(BBS9):c.*3G>A	BBS9	Single nucleotide variant (3 prime UTR variant)	BBS9-related disorder	GBenign
Select item 3058465	NM_198428.3(BBS9):c.329-6C>A	BBS9	Single nucleotide variant (intron variant)	BBS9-related disorder	GLikely benign
Select item 3053814	NM_198428.3(BBS9):c.443-3T>C	BBS9	Single nucleotide variant (intron variant)	BBS9-related disorder	GLikely benign
Select item 3046115	NM_001348041.4(BBS9):c.2667C>A (p.Thr889=)	BBS9	Single nucleotide variant (synonymous variant)	BBS9-related disorder	GLikely benign
Select item 3045757	NM_198428.3(BBS9):c.2612C>T (p.Thr871Ile)	BBS9 (T688I +9 more)	Single nucleotide variant (missense variant +2 more)	BBS9-related disorder	GUncertain significance
Select item 3043662	NM_198428.3(BBS9):c.328+5G>T	BBS9	Single nucleotide variant (intron variant)	BBS9-related disorder	GLikely benign
Select item 3038013	NM_001348041.4(BBS9):c.2656G>A (p.Glu886Lys)	BBS9 (E849K +1 more)	Single nucleotide variant (missense variant)	BBS9-related disorder	GLikely benign
Select item 3032316	NM_198428.3(BBS9):c.615T>C (p.Tyr205=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3032047	NM_198428.3(BBS9):c.1230C>T (p.Asp410=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3022733	NM_198428.3(BBS9):c.1553-20A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019932	NM_198428.3(BBS9):c.829del (p.Ile277fs)	BBS9 (I232fs +3 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 3019179	NM_198428.3(BBS9):c.1833C>T (p.Leu611=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3018396	NM_198428.3(BBS9):c.2391C>T (p.Ser797=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3018174	NM_198428.3(BBS9):c.1538-13C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3018125	NM_198428.3(BBS9):c.2299-4C>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3017572	NM_198428.3(BBS9):c.1330-18_1330-16del	BBS9	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3016965	NM_198428.3(BBS9):c.381T>C (p.Tyr127=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3016252	NM_198428.3(BBS9):c.1125A>G (p.Glu375=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	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 3014191	NM_198428.3(BBS9):c.705G>A (p.Val235=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3013679	NM_198428.3(BBS9):c.1433-12C>A	BBS9	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3013615	NM_198428.3(BBS9):c.1608A>G (p.Leu536=)	BBS9	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
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 3012768	NM_198428.3(BBS9):c.663G>A (p.Glu221=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3012472	NM_198428.3(BBS9):c.2521+19C>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3011165	NM_198428.3(BBS9):c.1725G>C (p.Val575=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
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 3010504	NM_198428.3(BBS9):c.2031A>G (p.Gln677=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3010339	NM_198428.3(BBS9):c.1552+5G>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3010256	NM_198428.3(BBS9):c.1824T>C (p.Asp608=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3009553	NM_198428.3(BBS9):c.2550C>T (p.Asp850=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3006351	NM_198428.3(BBS9):c.1644T>A (p.Ile548=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3006192	NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG	BBS9	Insertion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3001145	NM_198428.3(BBS9):c.858C>T (p.Ser286=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3000282	NM_198428.3(BBS9):c.1275+19T>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2999120	NM_198428.3(BBS9):c.1963-15A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2997812	NM_198428.3(BBS9):c.342T>C (p.Asn114=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2996146	NM_198428.3(BBS9):c.528T>C (p.Pro176=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2995997	NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)	BBS9 (Q276* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2987265	NM_198428.3(BBS9):c.834A>G (p.Arg278=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2986524	NM_198428.3(BBS9):c.1899A>G (p.Ala633=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2984755	NM_198428.3(BBS9):c.1323G>A (p.Thr441=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2982097	NM_198428.3(BBS9):c.1432+12G>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2980570	NM_198428.3(BBS9):c.1790-8dup	BBS9	Duplication (intron variant)	Bardet-Biedl syndrome	GBenign
Select item 2979012	NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG	BBS9	Insertion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2978566	NM_198428.3(BBS9):c.681T>C (p.Leu227=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2978273	NM_198428.3(BBS9):c.1789+12C>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
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 2976128	NM_198428.3(BBS9):c.618-14T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2975977	NM_198428.3(BBS9):c.2522-15G>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2972093	NM_198428.3(BBS9):c.1359A>G (p.Gln453=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2970592	NM_198428.3(BBS9):c.957A>G (p.Thr319=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2969907	NM_198428.3(BBS9):c.396G>A (p.Gln132=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2966030	NM_198428.3(BBS9):c.579C>T (p.Phe193=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2964431	NM_198428.3(BBS9):c.2628G>A (p.Arg876=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2962865	NM_198428.3(BBS9):c.675A>G (p.Gln225=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2962692	NM_198428.3(BBS9):c.1789+15G>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2960628	NM_198428.3(BBS9):c.1884A>G (p.Gly628=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2958202	NM_198428.3(BBS9):c.2633-11T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
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 2955554	NM_198428.3(BBS9):c.264-11_264-10del	BBS9	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954716	NM_198428.3(BBS9):c.887-16T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
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 2918890	NM_198428.3(BBS9):c.2115+15A>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2914837	NM_198428.3(BBS9):c.2481A>G (p.Leu827=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2911617	NM_198428.3(BBS9):c.861A>C (p.Pro287=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2911482	NM_198428.3(BBS9):c.2463A>G (p.Lys821=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2908664	NM_198428.3(BBS9):c.2299-19A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2908615	NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)	BBS9 (G579R +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2906475	NM_198428.3(BBS9):c.2521+16A>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2905921	NM_198428.3(BBS9):c.886+19T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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