ClinVar for OMIM (Select 613728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381957	NM_018075.5(ANO10):c.1735C>T (p.Gln579Ter)	ANO10 (Q389* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 3251863	NC_000003.11:g.(43474220_43591211)_(43602895_43607144)del	ANO10	Deletion	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 3010606	NM_018075.5(ANO10):c.1162+1G>A	ANO10	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2637529	NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del	ANO10	Deletion	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 2573043	NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)	ANO10 (W34*)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 2439107	NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)	ANO10 (K44E)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 1805383	NM_018075.5(ANO10):c.1A>G (p.Met1Val)	ANO10 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 1705343	NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)	ANO10 (E242* +2 more)	Duplication (intron variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic/Likely pathogenic
Select item 1675913	NM_018075.5(ANO10):c.1219-1G>T	ANO10	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic
Select item 1323907	NM_018075.5(ANO10):c.139+1G>T	ANO10	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GLikely pathogenic
Select item 1192475	NM_018075.5(ANO10):c.1915-5852T>C	ANO10 (S607P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign
Select item 1174509	NM_018075.5(ANO10):c.218G>A (p.Gly73Asp)	ANO10 (G73D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 1064587	NM_018075.5(ANO10):c.1163-9A>G	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10	GPathogenic/Likely pathogenic
Select item 1028084	NM_018075.5(ANO10):c.882C>G (p.Ile294Met)	ANO10 (I228M +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 1027440	NM_018075.5(ANO10):c.206T>A (p.Leu69Ter)	ANO10 (L69*)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GPathogenic
Select item 986820	NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)	ANO10 (F226V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic/Likely pathogenic
Select item 976688	NM_018075.5(ANO10):c.1551dup (p.Ala518fs)	ANO10 (A328fs +3 more)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic
Select item 931539	NM_018075.5(ANO10):c.223T>A (p.Ser75Thr)	ANO10 (S75T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 902718	NM_018075.5(ANO10):c.127A>G (p.Lys43Glu)	ANO10 (K43E)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 902717	NM_018075.5(ANO10):c.236T>G (p.Met79Arg)	ANO10 (M79R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 902716	NM_018075.5(ANO10):c.473-6G>A	ANO10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902651	NM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys)	ANO10 (Y308C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 902650	NM_018075.5(ANO10):c.1643C>A (p.Pro548His)	ANO10 (P482H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 901815	NM_018075.5(ANO10):c.592+3A>G	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 901814	NM_018075.5(ANO10):c.788G>A (p.Arg263His)	ANO10 (R152H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 901813	NM_018075.5(ANO10):c.802A>G (p.Met268Val)	ANO10 (M157V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 901812	NM_018075.5(ANO10):c.837A>T (p.Arg279Ser)	ANO10 (R168S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 901747	NM_018075.5(ANO10):c.1710C>T (p.Asn570=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 901746	NM_018075.5(ANO10):c.1914+3G>A	ANO10	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 901745	NM_018075.5(ANO10):c.1923G>A (p.Lys641=)	ANO10	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 901268	NM_018075.5(ANO10):c.853C>T (p.Arg285Trp)	ANO10 (R174W +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 901267	NM_018075.5(ANO10):c.857C>T (p.Pro286Leu)	ANO10 (P175L +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 901266	NM_018075.5(ANO10):c.1277T>C (p.Met426Thr)	ANO10 (M315T +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GUncertain significance
Select item 901199	NM_018075.5(ANO10):c.*164C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 901198	NM_018075.5(ANO10):c.*165G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 901197	NM_018075.5(ANO10):c.*237G>C	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 900167	NM_018075.5(ANO10):c.-104C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 900102	NM_018075.5(ANO10):c.1288C>T (p.Arg430Cys)	ANO10 (R319C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 900101	NM_018075.5(ANO10):c.1401G>T (p.Val467=)	ANO10	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 900038	NM_018075.5(ANO10):c.*418T>C	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 900037	NM_018075.5(ANO10):c.*569T>C	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 807373	NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)	ANO10 (W231* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic
Select item 741951	NM_018075.5(ANO10):c.1954A>G (p.Met652Val)	ANO10 (M462V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 724877	NM_018075.5(ANO10):c.799A>G (p.Asn267Asp)	ANO10 (N201D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 666355	NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)	ANO10 (C323R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 503974	NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)	ANO10	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 452043	NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)	ANO10 (K42*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 446836	NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)	ANO10 (F171S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434215	NM_018075.5(ANO10):c.96del (p.Glu33fs)	ANO10 (E33fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic
Select item 434213	NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)	ANO10 (Y102*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 10	GPathogenic
Select item 345204	NM_018075.5(ANO10):c.-102C>A	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345202	NM_018075.5(ANO10):c.-90C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GBenign
Select item 345201	NM_018075.5(ANO10):c.-83T>C	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345200	NM_018075.5(ANO10):c.-74C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345199	NM_018075.5(ANO10):c.-67C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345198	NM_018075.5(ANO10):c.-31G>C	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345197	NM_018075.5(ANO10):c.74A>C (p.Gln25Pro)	ANO10 (Q25P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 345196	NM_018075.5(ANO10):c.192A>G (p.Leu64=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345195	NM_018075.5(ANO10):c.338-11T>C	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345194	NM_018075.5(ANO10):c.486C>T (p.Leu162=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GBenign
Select item 345193	NM_018075.5(ANO10):c.616del (p.Glu206fs)	ANO10 (E95fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345192	NM_018075.5(ANO10):c.627T>C (p.Ala209=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GBenign
Select item 345191	NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys)	ANO10 (Y211C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345190	NM_018075.5(ANO10):c.676G>A (p.Ala226Thr)	ANO10 (A226T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 345189	NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)	ANO10 (Y327C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GConflicting classifications of pathogenicity
Select item 345188	NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn)	ANO10 (D338N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345187	NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln)	ANO10 (R378Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 345186	NM_018075.5(ANO10):c.1218+4A>T	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345184	NM_018075.5(ANO10):c.1339A>T (p.Met447Leu)	ANO10 (M447L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345183	NM_018075.5(ANO10):c.1416A>C (p.Ala472=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345182	NM_018075.5(ANO10):c.1477-14G>A	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign/Likely benign
Select item 345181	NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)	ANO10 (A520V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345180	NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu)	ANO10 (S532L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345179	NM_018075.5(ANO10):c.1628G>A (p.Arg543His)	ANO10 (R543H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345178	NM_018075.5(ANO10):c.1669-8T>G	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GBenign/Likely benign
Select item 345177	NM_018075.5(ANO10):c.1683G>C (p.Thr561=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345176	NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg)	ANO10 (K606R +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345175	NM_018075.5(ANO10):c.1864A>G (p.Met622Val)	ANO10 (M622V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 345173	NM_018075.5(ANO10):c.*82G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345172	NM_018075.5(ANO10):c.*91G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345171	NM_018075.5(ANO10):c.*179C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345170	NM_018075.5(ANO10):c.*196C>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign
Select item 345169	NM_018075.5(ANO10):c.*246A>G	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign/Likely benign
Select item 345168	NM_018075.5(ANO10):c.*368C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345167	NM_018075.5(ANO10):c.*372G>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345166	NM_018075.5(ANO10):c.*432G>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GBenign
Select item 345165	NM_018075.5(ANO10):c.*438A>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345164	NM_018075.5(ANO10):c.*444C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GBenign
Select item 345163	NM_018075.5(ANO10):c.*447G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345162	NM_018075.5(ANO10):c.*452A>G	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 260993	NM_018075.5(ANO10):c.1293+9A>G	ANO10	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 210186	NM_018075.5(ANO10):c.337+1G>A	ANO10	Single nucleotide variant (intron variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic/Likely pathogenic
Select item 210185	NM_018075.5(ANO10):c.1669-2A>T	ANO10	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 10	GPathogenic
Select item 162018	NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter)	ANO10 (E382* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 162017	NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)	ANO10 (D615N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 162016	NM_018075.5(ANO10):c.132dup (p.Asp45fs)	ANO10 (D45fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 128388	NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)	ANO10 (T561M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 128387	NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)	ANO10 (R462Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 128386	NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)	ANO10 (S356G +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign
Select item 31060	NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)	ANO10	Deletion (nonsense)	Autosomal recessive spinocerebellar ataxia 10	GPathogenic

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