ClinVar for Gene (Select 27241) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366832	NC_000007.13:g.(33390936_33392470)_(33397608_33407378)del	BBS9	Deletion	not specified	GUncertain significance
Select item 3366386	NC_000007.13:g.(33390936_33392470)_(33407475_33423277)del	BBS9	Deletion	not specified	GUncertain significance
Select item 3362639	NM_198428.3(BBS9):c.1183_1184del (p.Asp394_Val395insTer)	BBS9	Deletion (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3362638	NM_198428.3(BBS9):c.1189_1190insTCTTT (p.Lys397fs)	BBS9 (K275fs +3 more)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 3362501	NM_198428.3(BBS9):c.1486_1492del (p.Thr496fs)	BBS9 (T374fs +3 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 3358849	NM_198428.3(BBS9):c.22G>A (p.Asp8Asn)	BBS9 (D8N)	Single nucleotide variant (missense variant +3 more)	BBS9-related disorder	GUncertain significance
Select item 3358795	NM_001348041.4(BBS9):c.2712_2715del (p.Glu904fs)	BBS9 (E867fs +1 more)	Deletion (frameshift variant)	BBS9-related disorder	GUncertain significance
Select item 3358631	NM_198428.3(BBS9):c.214G>T (p.Val72Leu)	BBS9 (V27L +1 more)	Single nucleotide variant (missense variant +3 more)	BBS9-related disorder	GUncertain significance
Select item 3358451	NM_198428.3(BBS9):c.1693+4A>G	BBS9	Single nucleotide variant (intron variant)	BBS9-related disorder	GLikely benign
Select item 3358241	NM_198428.3(BBS9):c.1967G>A (p.Arg656Gln)	BBS9 (R499Q +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3358125	NM_001348041.4(BBS9):c.2688G>A (p.Leu896=)	BBS9	Single nucleotide variant (synonymous variant)	BBS9-related disorder	GLikely benign
Select item 3358070	NM_001348041.4(BBS9):c.2690G>A (p.Ser897Asn)	BBS9 (S860N +1 more)	Single nucleotide variant (missense variant)	BBS9-related disorder	GUncertain significance
Select item 3358018	NM_198428.3(BBS9):c.2387A>G (p.Asn796Ser)	BBS9 (N613S +9 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3357498	NM_198428.3(BBS9):c.752T>C (p.Val251Ala)	BBS9 (V129A +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3357155	NM_198428.3(BBS9):c.1015C>T (p.His339Tyr)	BBS9 (H217Y +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3357089	NM_198428.3(BBS9):c.1014G>T (p.Leu338Phe)	BBS9 (L216F +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3357002	NM_198428.3(BBS9):c.76T>C (p.Cys26Arg)	BBS9 (C26R)	Single nucleotide variant (missense variant +3 more)	BBS9-related disorder	GUncertain significance
Select item 3356890	NM_198428.3(BBS9):c.1633A>G (p.Ser545Gly)	BBS9 (S388G +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3356276	NM_198428.3(BBS9):c.481C>T (p.Leu161=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3356254	NM_198428.3(BBS9):c.832C>A (p.Arg278=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3356176	NM_198428.3(BBS9):c.1761A>C (p.Arg587=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3356139	NM_198428.3(BBS9):c.1381G>A (p.Val461Met)	BBS9 (V339M +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3356016	NM_001348041.4(BBS9):c.2724C>T (p.Ser908=)	BBS9	Single nucleotide variant (synonymous variant)	BBS9-related disorder	GLikely benign
Select item 3355018	NC_000007.14:g.33635277G>T	BBS9	Single nucleotide variant (3 prime UTR variant)	BBS9-related disorder	GLikely benign
Select item 3354996	NM_198428.3(BBS9):c.739G>C (p.Asp247His)	BBS9 (D125H +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3354757	NM_198428.3(BBS9):c.*6G>A	BBS9	Single nucleotide variant (3 prime UTR variant +2 more)	BBS9-related disorder	GLikely benign
Select item 3354586	NM_198428.3(BBS9):c.1873G>A (p.Glu625Lys)	BBS9 (E468K +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3354479	NM_001348041.4(BBS9):c.2680_2684delinsGACT (p.His894fs)	BBS9 (H857fs +1 more)	Indel (frameshift variant)	BBS9-related disorder	GUncertain significance
Select item 3354319	NM_198428.3(BBS9):c.784G>A (p.Val262Ile)	BBS9 (V140I +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3353742	NM_198428.3(BBS9):c.1484A>T (p.Tyr495Phe)	BBS9 (Y373F +3 more)	Single nucleotide variant (missense variant +2 more)	BBS9-related disorder	GUncertain significance
Select item 3353246	NM_198428.3(BBS9):c.2642C>A (p.Pro881His)	BBS9 (P698H +11 more)	Single nucleotide variant (missense variant +2 more)	BBS9-related disorder	GUncertain significance
Select item 3352791	NM_198428.3(BBS9):c.1589C>T (p.Pro530Leu)	BBS9 (P373L +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3352010	NM_198428.3(BBS9):c.599A>G (p.Gln200Arg)	BBS9 (Q109R +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3351930	NM_198428.3(BBS9):c.328+4A>G	BBS9	Single nucleotide variant (intron variant)	BBS9-related disorder	GLikely benign
Select item 3351300	NM_198428.3(BBS9):c.271G>A (p.Glu91Lys)	BBS9 (E46K +1 more)	Single nucleotide variant (missense variant +3 more)	BBS9-related disorder	GUncertain significance
Select item 3350488	NM_198428.3(BBS9):c.95A>G (p.Asn32Ser)	BBS9 (N32S)	Single nucleotide variant (missense variant +3 more)	BBS9-related disorder	GUncertain significance
Select item 3350205	NM_198428.3(BBS9):c.329-5dup	BBS9	Duplication (intron variant)	BBS9-related disorder	GLikely benign
Select item 3349951	NM_198428.3(BBS9):c.2435T>G (p.Ile812Ser)	BBS9 (I629S +9 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3349700	NM_198428.3(BBS9):c.1564G>A (p.Val522Ile)	BBS9 (V365I +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3349595	NM_198428.3(BBS9):c.956C>A (p.Thr319Lys)	BBS9 (T197K +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3349464	NM_198428.3(BBS9):c.1220_1221delinsTT (p.Arg407Ile)	BBS9 (R285I +3 more)	Indel (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3349407	NM_198428.3(BBS9):c.617+7_617+8del	BBS9	Deletion (intron variant)	BBS9-related disorder	GLikely benign
Select item 3349364	NM_198428.3(BBS9):c.2568A>G (p.Val856=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	BBS9-related disorder	GLikely benign
Select item 3349326	NM_198428.3(BBS9):c.1227T>A (p.Asp409Glu)	BBS9 (D287E +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3349142	NM_198428.3(BBS9):c.442G>A (p.Gly148Ser)	BBS9 (G103S +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3349030	NM_001348041.4(BBS9):c.2652G>A (p.Arg884=)	BBS9	Single nucleotide variant (synonymous variant)	BBS9-related disorder	GLikely benign
Select item 3348999	NM_001348041.4(BBS9):c.2723G>A (p.Ser908Asn)	BBS9 (S871N +1 more)	Single nucleotide variant (missense variant)	BBS9-related disorder	GUncertain significance
Select item 3348786	NM_198428.3(BBS9):c.1329+1G>A	BBS9	Single nucleotide variant (splice donor variant)	BBS9-related disorder	GUncertain significance
Select item 3348636	NM_198428.3(BBS9):c.2298+1G>A	BBS9	Single nucleotide variant (splice donor variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3348581	NM_198428.3(BBS9):c.2255T>C (p.Leu752Pro)	BBS9 (L595P +8 more)	Single nucleotide variant (missense variant +2 more)	BBS9-related disorder	GUncertain significance
Select item 3348173	NM_198428.3(BBS9):c.112+9C>T	BBS9	Single nucleotide variant (intron variant)	BBS9-related disorder	GUncertain significance
Select item 3347736	NM_198428.3(BBS9):c.466T>C (p.Ser156Pro)	BBS9 (S111P +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3347453	NM_198428.3(BBS9):c.866G>A (p.Cys289Tyr)	BBS9 (C167Y +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3347433	NM_198428.3(BBS9):c.211G>C (p.Glu71Gln)	BBS9 (E26Q +1 more)	Single nucleotide variant (missense variant +3 more)	BBS9-related disorder	GUncertain significance
Select item 3347269	NM_198428.3(BBS9):c.797G>A (p.Arg266Lys)	BBS9 (R144K +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3347253	NM_198428.3(BBS9):c.1227T>C (p.Asp409=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3347030	NM_198428.3(BBS9):c.1233G>A (p.Leu411=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3346607	NM_198428.3(BBS9):c.1249G>A (p.Val417Ile)	BBS9 (V295I +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3346539	NM_198428.3(BBS9):c.682G>T (p.Gly228Cys)	BBS9 (G106C +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3346362	NM_198428.3(BBS9):c.1198+1G>A	BBS9	Single nucleotide variant (splice donor variant)	BBS9-related disorder	GPathogenic
Select item 3346206	NM_198428.3(BBS9):c.1047T>A (p.Ser349Arg)	BBS9 (S227R +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3346199	NM_198428.3(BBS9):c.1231T>C (p.Leu411=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related disorder	GLikely benign
Select item 3346081	NM_198428.3(BBS9):c.1279G>T (p.Ala427Ser)	BBS9 (A305S +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3346043	NM_198428.3(BBS9):c.903A>G (p.Ile301Met)	BBS9 (I179M +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3345943	NM_198428.3(BBS9):c.1260C>A (p.Asn420Lys)	BBS9 (N298K +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3345905	NM_001348041.4(BBS9):c.2641A>G (p.Thr881Ala)	BBS9 (T844A +1 more)	Single nucleotide variant (missense variant)	BBS9-related disorder	GUncertain significance
Select item 3345879	NM_198428.3(BBS9):c.673C>A (p.Gln225Lys)	BBS9 (Q103K +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder	GUncertain significance
Select item 3345364	NM_198428.3(BBS9):c.30G>A (p.Trp10Ter)	BBS9 (W10*)	Single nucleotide variant (nonsense +3 more)	BBS9-related disorder	GUncertain significance
Select item 3344945	NM_001348041.4(BBS9):c.2635C>G (p.Pro879Ala)	BBS9 (P842A +1 more)	Single nucleotide variant (missense variant)	BBS9-related disorder	GUncertain significance
Select item 3344045	NM_198428.3(BBS9):c.2116-1G>A	BBS9	Single nucleotide variant (splice acceptor variant +1 more)	BBS9-related disorder	GLikely pathogenic
Select item 3338773	NM_198428.3(BBS9):c.1285G>A (p.Asp429Asn)	BBS9 (D307N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3260551	NM_198428.3(BBS9):c.1026G>C (p.Lys342Asn)	BBS9 (K251N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260550	NM_198428.3(BBS9):c.2015A>G (p.Gln672Arg)	BBS9 (Q515R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260549	NM_198428.3(BBS9):c.2495C>T (p.Ala832Val)	BBS9 (A649V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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

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