ClinVar for Gene (Select 55212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3589813	NM_176824.3(BBS7):c.35A>G (p.Gln12Arg)	BBS7, LOC129993036 (Q12R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589812	NM_176824.3(BBS7):c.61_62del (p.Met21fs)	BBS7 (M21fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589811	NM_176824.3(BBS7):c.165+2T>G	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589810	NM_176824.3(BBS7):c.165+2dup	BBS7	Duplication (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589809	NM_176824.3(BBS7):c.187G>C (p.Gly63Arg)	BBS7 (G63R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589808	NM_176824.3(BBS7):c.199G>C (p.Ala67Pro)	BBS7 (A67P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589806	NM_176824.3(BBS7):c.548C>A (p.Ala183Glu)	BBS7 (A183E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589805	NM_176824.3(BBS7):c.602-10T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589804	NM_176824.3(BBS7):c.638A>G (p.Asp213Gly)	BBS7 (D213G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589803	NM_176824.3(BBS7):c.650C>A (p.Ala217Glu)	BBS7 (A217E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589802	NM_176824.3(BBS7):c.715G>A (p.Gly239Arg)	BBS7 (G239R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589801	NM_176824.3(BBS7):c.906T>A (p.Tyr302Ter)	BBS7 (Y302*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589800	NM_176824.3(BBS7):c.935-2A>C	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589799	NM_176824.3(BBS7):c.970A>G (p.Lys324Glu)	BBS7 (K324E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589798	NM_176824.3(BBS7):c.1102C>T (p.Gln368Ter)	BBS7 (Q368*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589797	NM_176824.3(BBS7):c.1106C>T (p.Ser369Leu)	BBS7 (S369L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589796	NM_176824.3(BBS7):c.1175C>A (p.Ala392Asp)	BBS7 (A392D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589795	NM_176824.3(BBS7):c.1279G>C (p.Val427Leu)	BBS7 (V427L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589794	NM_176824.3(BBS7):c.1328C>G (p.Ala443Gly)	BBS7 (A443G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589793	NM_176824.3(BBS7):c.1489A>G (p.Thr497Ala)	BBS7 (T497A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589792	NM_176824.3(BBS7):c.1538G>C (p.Gly513Ala)	BBS7 (G513A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589791	NM_176824.3(BBS7):c.1786+4A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3589790	NM_176824.3(BBS7):c.1845C>G (p.Tyr615Ter)	BBS7 (Y615*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3589789	NM_176824.3(BBS7):c.2021T>C (p.Ile674Thr)	BBS7 (I674T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3479936	NM_176824.3(BBS7):c.1867G>C (p.Val623Leu)	BBS7 (V623L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3479935	NM_176824.3(BBS7):c.1537G>A (p.Gly513Ser)	BBS7 (G513S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3479934	NM_176824.3(BBS7):c.1349A>G (p.Asp450Gly)	BBS7 (D450G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3479933	NM_176824.3(BBS7):c.611G>A (p.Gly204Glu)	BBS7 (G204E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3479932	NM_176824.3(BBS7):c.380A>G (p.Tyr127Cys)	BBS7 (Y127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358784	NM_176824.3(BBS7):c.1293C>T (p.Ser431=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3358768	NM_176824.3(BBS7):c.916G>A (p.Val306Met)	BBS7 (V306M)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3358589	NM_176824.3(BBS7):c.664A>G (p.Thr222Ala)	BBS7 (T222A)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3358181	NM_176824.3(BBS7):c.940G>A (p.Val314Ile)	BBS7 (V314I)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3358053	NM_176824.3(BBS7):c.44T>G (p.Val15Gly)	BBS7 (V15G)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3357433	NM_176824.3(BBS7):c.2015-5T>C	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder	GLikely benign
Select item 3356787	NM_176824.3(BBS7):c.1038-6del	BBS7	Deletion (intron variant)	BBS7-related disorder	GLikely benign
Select item 3356634	NM_176824.3(BBS7):c.2015-4A>G	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder	GLikely benign
Select item 3356358	NM_176824.3(BBS7):c.1761G>A (p.Arg587=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3356050	NM_176824.3(BBS7):c.580G>A (p.Ala194Thr)	BBS7 (A194T)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3355739	NM_176824.3(BBS7):c.506A>G (p.Asp169Gly)	BBS7 (D169G)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3355000	NM_176824.3(BBS7):c.-9G>A	BBS7, LOC129993036	Single nucleotide variant (5 prime UTR variant)	BBS7-related disorder	GLikely benign
Select item 3353750	NM_176824.3(BBS7):c.1713T>C (p.Ser571=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3353651	NM_176824.3(BBS7):c.1618T>C (p.Cys540Arg)	BBS7 (C540R)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3353571	NM_176824.3(BBS7):c.278T>C (p.Phe93Ser)	BBS7 (F93S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3353419	NM_176824.3(BBS7):c.435T>C (p.Asp145=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3352742	NM_176824.3(BBS7):c.540G>T (p.Val180=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3352142	NM_176824.3(BBS7):c.39G>A (p.Val13=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3351770	NM_176824.3(BBS7):c.631A>G (p.Thr211Ala)	BBS7 (T211A)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3351550	NM_176824.3(BBS7):c.-7A>G	BBS7, LOC129993036	Single nucleotide variant (5 prime UTR variant)	BBS7-related disorder	GLikely benign
Select item 3351118	NM_176824.3(BBS7):c.2086C>G (p.Leu696Val)	BBS7 (L696V)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3349892	NM_176824.3(BBS7):c.103-4A>G	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder	GLikely benign
Select item 3349598	NM_176824.3(BBS7):c.2017A>G (p.Met673Val)	BBS7 (M673V)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3349413	NM_176824.3(BBS7):c.655dup (p.Ile219fs)	BBS7 (I219fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3349284	NM_176824.3(BBS7):c.2010C>G (p.Leu670=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GUncertain significance
Select item 3349098	NM_176824.3(BBS7):c.1672T>G (p.Tyr558Asp)	BBS7 (Y558D)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3348871	NM_176824.3(BBS7):c.1981A>G (p.Lys661Glu)	BBS7 (K661E)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3348415	NM_176824.3(BBS7):c.2104A>G (p.Ser702Gly)	BBS7 (S702G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3347716	NM_176824.3(BBS7):c.950T>A (p.Leu317Gln)	BBS7 (L317Q)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3347326	NM_176824.3(BBS7):c.1676+6T>C	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder	GLikely benign
Select item 3347305	NM_176824.3(BBS7):c.1209A>G (p.Ala403=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3347116	NM_176824.3(BBS7):c.515T>C (p.Leu172Pro)	BBS7 (L172P)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3347107	NM_176824.3(BBS7):c.1516A>C (p.Met506Leu)	BBS7 (M506L)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3346682	NM_176824.3(BBS7):c.986_988del (p.Gly329del)	BBS7 (G329del)	Deletion (inframe_deletion)	BBS7-related disorder	GUncertain significance
Select item 3346200	NM_176824.3(BBS7):c.525A>C (p.Leu175Phe)	BBS7 (L175F)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3345320	NM_176824.3(BBS7):c.1997A>G (p.His666Arg)	BBS7 (H666R)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3344763	NM_176824.3(BBS7):c.1182C>T (p.Tyr394=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GLikely benign
Select item 3344527	NM_176824.3(BBS7):c.851TGT[1] (p.Leu285del)	BBS7 (L285del)	Microsatellite (inframe_deletion)	BBS7-related disorder	GUncertain significance
Select item 3340597	NM_176824.3(BBS7):c.1565C>T (p.Ser522Phe)	BBS7 (S522F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260548	NM_176824.3(BBS7):c.260C>T (p.Ala87Val)	BBS7 (A87V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260547	NM_176824.3(BBS7):c.2056G>A (p.Gly686Ser)	BBS7 (G686S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3249236	NM_176824.3(BBS7):c.1043A>G (p.Glu348Gly)	BBS7 (E348G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3248612	NM_176824.3(BBS7):c.1773del (p.Asn592fs)	BBS7 (N592fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	AFG2A, ANXA5 +17 more	Deletion	not provided	GUncertain significance
Select item 3246654	NC_000004.11:g.(?_122765575)_(122770074_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246653	NC_000004.11:g.(?_122749645)_(122750373_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3246652	NC_000004.11:g.(?_122760766)_(122770103_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246650	NC_000004.11:g.(?_122774091)_(122775995_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246649	NC_000004.11:g.(?_122747015)_(122749903_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246648	NC_000004.11:g.(?_122749281)_(122756458_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246647	NC_000004.11:g.(?_122789116)_(122791468_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246646	NC_000004.11:g.(?_122766639)_(122872835_?)del	BBS7, TRPC3	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246645	NC_000004.11:g.(?_122766639)_(122766871_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3242544	NM_176824.3(BBS7):c.495G>C (p.Leu165Phe)	BBS7 (L165F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3242543	NM_176824.3(BBS7):c.1230+5G>A	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3242541	NM_176824.3(BBS7):c.1583T>G (p.Leu528Arg)	BBS7 (L528R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3242540	NM_176824.3(BBS7):c.455G>T (p.Cys152Phe)	BBS7 (C152F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3242539	NM_176824.3(BBS7):c.718+3A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3240903	NM_176824.3(BBS7):c.807_808dup (p.Ser270fs)	BBS7 (S270fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3240902	NM_176824.3(BBS7):c.602-1G>A	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3240901	NM_176824.3(BBS7):c.601+2T>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3235150	NM_176824.3(BBS7):c.1886T>A (p.Leu629Ter)	BBS7 (L629*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GPathogenic
Select item 3220915	NM_176824.3(BBS7):c.602-2A>T	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 3133173	NM_176824.3(BBS7):c.541A>C (p.Met181Leu)	BBS7 (M181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133171	NM_176824.3(BBS7):c.1648C>G (p.Leu550Val)	BBS7 (L550V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133170	NM_176824.3(BBS7):c.1487G>T (p.Arg496Ile)	BBS7 (R496I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3068538	NM_176824.3(BBS7):c.341+1G>A	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3068537	NM_176824.3(BBS7):c.338C>A (p.Ala113Asp)	BBS7 (A113D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 3068536	NM_176824.3(BBS7):c.1611del (p.Gly538fs)	BBS7 (G538fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 3068535	NM_176824.3(BBS7):c.341+3_341+6del	BBS7	Microsatellite (splice donor variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic

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