ClinVar for Gene (Select 166379) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133160	NM_152618.3(BBS12):c.580C>G (p.Leu194Val)	BBS12 (L194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133158	NM_152618.3(BBS12):c.1832C>T (p.Ser611Leu)	BBS12 (S611L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133157	NM_152618.3(BBS12):c.1831T>C (p.Ser611Pro)	BBS12 (S611P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133156	NM_152618.3(BBS12):c.1600A>C (p.Lys534Gln)	BBS12 (K534Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133155	NM_152618.3(BBS12):c.1324A>T (p.Met442Leu)	BBS12 (M442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133154	NM_152618.3(BBS12):c.1190C>A (p.Ala397Glu)	BBS12 (A397E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062807	GRCh37/hg19 4q27-28.1(chr4:123302296-124083892)x3	ADAD1, AFG2A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058503	NM_152618.3(BBS12):c.1455C>A (p.Asn485Lys)	BBS12 (N485K)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3053189	NM_152618.3(BBS12):c.1345G>T (p.Ala449Ser)	BBS12 (A449S)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3050169	NM_152618.3(BBS12):c.*1T>C	BBS12	Single nucleotide variant (3 prime UTR variant)	BBS12-related disorder	GLikely benign
Select item 3036063	NM_152618.3(BBS12):c.1688A>G (p.His563Arg)	BBS12 (H563R)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021519	NM_152618.3(BBS12):c.1467A>C (p.Ala489=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019196	NM_152618.3(BBS12):c.1756del (p.Thr586fs)	BBS12 (T586fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3016889	NM_152618.3(BBS12):c.294A>G (p.Ala98=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3007396	NM_152618.3(BBS12):c.2061C>T (p.Asp687=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2996221	NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)	BBS12	Microsatellite (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2987217	NM_152618.3(BBS12):c.1140A>C (p.Thr380=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2983207	NM_152618.3(BBS12):c.1407C>T (p.Val469=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2979961	NM_152618.3(BBS12):c.1779T>C (p.Asn593=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2979437	NM_152618.3(BBS12):c.874C>T (p.Leu292=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2960623	NM_152618.3(BBS12):c.1185G>T (p.Leu395=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2958265	NM_152618.3(BBS12):c.1251T>C (p.Asn417=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954834	NM_152618.3(BBS12):c.351A>G (p.Ser117=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2917060	NM_152618.3(BBS12):c.960A>G (p.Leu320=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2914722	NM_152618.3(BBS12):c.522T>C (p.His174=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2909823	NM_152618.3(BBS12):c.714T>C (p.Asn238=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2905490	NM_152618.3(BBS12):c.201A>T (p.Gly67=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2904224	NM_152618.3(BBS12):c.1563A>G (p.Thr521=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2899879	NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)	BBS12 (Q68*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2898986	NM_152618.3(BBS12):c.240A>G (p.Thr80=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2890934	NM_152618.3(BBS12):c.1851A>G (p.Thr617=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2888656	NM_152618.3(BBS12):c.1887T>C (p.Ser629=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2885498	NM_152618.3(BBS12):c.1950A>G (p.Ser650=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2880240	NM_152618.3(BBS12):c.1461A>G (p.Arg487=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2876986	NM_152618.3(BBS12):c.516A>G (p.Glu172=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2876059	NM_152618.3(BBS12):c.1527T>C (p.Thr509=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2868611	NM_152618.3(BBS12):c.552G>A (p.Leu184=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2867512	NM_152618.3(BBS12):c.1614A>G (p.Gly538=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2866935	NM_152618.3(BBS12):c.427del (p.Ser143fs)	BBS12 (S143fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2865689	NM_152618.3(BBS12):c.720A>G (p.Thr240=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2865197	NM_152618.3(BBS12):c.1764T>A (p.Leu588=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2863118	NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)	BBS12 (W396fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2861657	NM_152618.3(BBS12):c.1626del (p.Glu543fs)	BBS12 (E543fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2858016	NM_152618.3(BBS12):c.2082T>C (p.His694=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2855833	NM_152618.3(BBS12):c.1302C>A (p.Ile434=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2846088	NM_152618.3(BBS12):c.1134T>A (p.Ile378=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2843340	NM_152618.3(BBS12):c.1695C>T (p.Cys565=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2830112	NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)	BBS12 (W520*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2826289	NM_152618.3(BBS12):c.1386A>G (p.Glu462=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2823835	NM_152618.3(BBS12):c.900A>G (p.Gln300=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2823000	NM_152618.3(BBS12):c.655_658del (p.Ser219fs)	BBS12 (S219fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2821668	NM_152618.3(BBS12):c.476del (p.Pro159fs)	BBS12 (P159fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2820216	NM_152618.3(BBS12):c.1149del (p.Asp383fs)	BBS12 (D383fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2819218	NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)	BBS12 (W396*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2817174	NM_152618.3(BBS12):c.2007G>A (p.Lys669=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2816850	NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)	BBS12 (N506fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2810513	NM_152618.3(BBS12):c.108C>A (p.Ser36=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2808750	NM_152618.3(BBS12):c.1428C>T (p.Ser476=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2805543	NM_152618.3(BBS12):c.1605C>A (p.Val535=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2802602	NM_152618.3(BBS12):c.1053T>C (p.Asn351=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2801646	NM_152618.3(BBS12):c.729T>C (p.Thr243=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2800922	NM_152618.3(BBS12):c.1314T>C (p.Asn438=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2795170	NM_152618.3(BBS12):c.1500T>C (p.Val500=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2793733	NM_152618.3(BBS12):c.1224G>A (p.Lys408=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2793257	NM_152618.3(BBS12):c.1482A>T (p.Thr494=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2792589	NM_152618.3(BBS12):c.978T>G (p.Thr326=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2792489	NM_152618.3(BBS12):c.1233T>C (p.Leu411=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2789204	NM_152618.3(BBS12):c.381A>G (p.Val127=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2775691	NM_152618.3(BBS12):c.2010T>A (p.Ile670=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2772025	NM_152618.3(BBS12):c.80del (p.Arg27fs)	BBS12 (R27fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2771947	NM_152618.3(BBS12):c.1446A>G (p.Val482=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2770245	NM_152618.3(BBS12):c.1731T>C (p.Ala577=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2768788	NM_152618.3(BBS12):c.798T>C (p.Asn266=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2767789	NM_152618.3(BBS12):c.1020A>G (p.Val340=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2765231	NM_152618.3(BBS12):c.1020A>T (p.Val340=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2765111	NM_152618.3(BBS12):c.1239G>A (p.Leu413=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2764361	NM_152618.3(BBS12):c.1005C>A (p.Ile335=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2763897	NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)	BBS12 (L681fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2762263	NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)	BBS12 (G416*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2756355	NM_152618.3(BBS12):c.774T>G (p.Ala258=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2755276	NM_152618.3(BBS12):c.1605C>G (p.Val535=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2753746	NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)	BBS12 (T606fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2751293	NM_152618.3(BBS12):c.948C>T (p.Phe316=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2750091	NM_152618.3(BBS12):c.141T>C (p.Ser47=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2742865	NM_152618.3(BBS12):c.2097A>C (p.Ile699=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2740174	NM_152618.3(BBS12):c.1935T>C (p.Ser645=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2736447	NM_152618.3(BBS12):c.168del (p.Glu58fs)	BBS12 (E58fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2735670	NM_152618.3(BBS12):c.756T>C (p.Phe252=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2734653	NM_152618.3(BBS12):c.1616del (p.Gly539fs)	BBS12 (G539fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2731833	NM_152618.3(BBS12):c.1569C>G (p.Ala523=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2731414	NM_152618.3(BBS12):c.16A>C (p.Arg6=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2725960	NM_152618.3(BBS12):c.2044T>C (p.Leu682=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2719732	NM_152618.3(BBS12):c.507G>A (p.Leu169=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2707949	NM_152618.3(BBS12):c.150C>T (p.Ile50=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2705486	NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)	BBS12 (V357fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2704453	NM_152618.3(BBS12):c.1905C>T (p.Tyr635=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2702514	NM_152618.3(BBS12):c.1671T>G (p.Ser557=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

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