C1832585[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328979	NM_033064.4(ATCAY):c.-424delC	ATCAY	Deletion	Cayman type cerebellar ataxia	GLikely benign
Select item 328980	NM_033064.4(ATCAY):c.-398C>A	ATCAY	Single nucleotide variant	Cayman type cerebellar ataxia	GLikely benign
Select item 328981	NM_033064.4(ATCAY):c.-390A>G	ATCAY	Single nucleotide variant	Cayman type cerebellar ataxia	GBenign
Select item 328982	NM_033064.4(ATCAY):c.-375G>T	ATCAY	Single nucleotide variant	Cayman type cerebellar ataxia	GUncertain significance
Select item 891421	NM_033064.5(ATCAY):c.-241C>T	ATCAY	Single nucleotide variant (5 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 328983	NM_033064.5(ATCAY):c.-198C>G	ATCAY	Single nucleotide variant (5 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 891674	NM_033064.5(ATCAY):c.-176C>T	ATCAY	Single nucleotide variant (5 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 891675	NM_033064.5(ATCAY):c.-170C>A	ATCAY	Single nucleotide variant (5 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 891676	NM_033064.5(ATCAY):c.-41-13G>A	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 328984	NM_033064.5(ATCAY):c.36C>T (p.Asn12=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 715321	NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu)	ATCAY (G33E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329117	NM_033064.5(ATCAY):c.137-11T>C	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 329118	NM_033064.5(ATCAY):c.162C>T (p.Asn54=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 892696	NM_033064.5(ATCAY):c.283G>A (p.Val95Met)	ATCAY (V95M)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892852	NM_033064.5(ATCAY):c.359-14C>T	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893662	NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr)	ATCAY (A127T)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893663	NM_033064.5(ATCAY):c.402C>T (p.Ser134=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329141	NM_033064.5(ATCAY):c.405G>A (p.Ala135=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 893664	NM_033064.5(ATCAY):c.420C>T (p.Asp140=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 788138	NM_033064.5(ATCAY):c.426G>A (p.Thr142=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +1 more	GBenign/Likely benign
Select item 329143	NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg)	ATCAY (G160R)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329144	NM_033064.5(ATCAY):c.544+6dup	ATCAY	Duplication (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329145	NM_033064.5(ATCAY):c.544+16dup	ATCAY	Duplication (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 782048	NM_033064.5(ATCAY):c.545-8C>T	ATCAY	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 329146	NM_033064.5(ATCAY):c.555C>A (p.Gly185=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329147	NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr)	ATCAY (A190T)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 735386	NM_033064.5(ATCAY):c.615C>A (p.Pro205=)	ATCAY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 329148	NM_033064.5(ATCAY):c.647+10C>T	ATCAY	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 894332	NM_033064.5(ATCAY):c.647+14C>T	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894334	NM_033064.5(ATCAY):c.647+15G>C	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894333	NM_033064.5(ATCAY):c.647+15G>A	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329149	NM_033064.5(ATCAY):c.678G>A (p.Val226=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329150	NM_033064.5(ATCAY):c.717G>A (p.Thr239=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 894335	NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp)	ATCAY (R241W)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329151	NM_033064.5(ATCAY):c.810C>T (p.Ile270=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +2 more	GBenign
Select item 329152	NM_033064.5(ATCAY):c.866+6A>G	ATCAY	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 713616	NM_033064.5(ATCAY):c.866+7C>T	ATCAY	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 892889	NM_033064.5(ATCAY):c.957C>T (p.Cys319=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892890	NM_033064.5(ATCAY):c.1002C>T (p.Ser334=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 789346	NM_033064.5(ATCAY):c.1053G>A (p.Glu351=)	ATCAY	Single nucleotide variant (synonymous variant)	Cayman type cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 892891	NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser)	ATCAY (P354S)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329153	NM_033064.5(ATCAY):c.1074-14T>C	ATCAY	Single nucleotide variant (intron variant)	Cayman type cerebellar ataxia	GBenign
Select item 710642	NM_033064.5(ATCAY):c.1106+10A>T	ATCAY	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892892	NM_033064.5(ATCAY):c.*7G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 892893	NM_033064.5(ATCAY):c.*26T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 329154	NM_033064.5(ATCAY):c.*143G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329156	NM_033064.5(ATCAY):c.192_193del	ATCAY	Deletion (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329155	NM_033064.5(ATCAY):c.*193del	ATCAY	Deletion (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 893706	NM_033064.5(ATCAY):c.*212C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329157	NM_033064.5(ATCAY):c.*266C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893707	NM_033064.5(ATCAY):c.*309C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 329158	NM_033064.5(ATCAY):c.*313G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 893971	NM_033064.5(ATCAY):c.*391C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329159	NM_033064.5(ATCAY):c.*391C>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893972	NM_033064.5(ATCAY):c.*420C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893973	NM_033064.5(ATCAY):c.*430G>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329161	NM_033064.5(ATCAY):c.*441G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 329160	NM_033064.5(ATCAY):c.*441G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329162	NM_033064.5(ATCAY):c.*486A>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329163	NM_033064.5(ATCAY):c.*496C>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893974	NM_033064.5(ATCAY):c.*507G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 894367	NM_033064.5(ATCAY):c.*512G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894368	NM_033064.5(ATCAY):c.*599T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894369	NM_033064.5(ATCAY):c.*608G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894370	NM_033064.5(ATCAY):c.*612C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329164	NM_033064.5(ATCAY):c.*681A>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329165	NM_033064.5(ATCAY):c.*687C>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329166	NM_033064.5(ATCAY):c.*728T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329167	NM_033064.5(ATCAY):c.*740G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892926	NM_033064.5(ATCAY):c.*758C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 329168	NM_033064.5(ATCAY):c.*806A>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329169	NM_033064.5(ATCAY):c.*813G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329170	NM_033064.5(ATCAY):c.*823C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 892927	NM_033064.5(ATCAY):c.*838G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 892928	NM_033064.5(ATCAY):c.*871T>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GLikely benign
Select item 892929	NM_033064.5(ATCAY):c.*929G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329171	NM_033064.5(ATCAY):c.*939G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893160	NM_033064.5(ATCAY):c.*958G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329172	NM_033064.5(ATCAY):c.*976C>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329173	NM_033064.5(ATCAY):c.*1036G>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 893161	NM_033064.5(ATCAY):c.*1051T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 893162	NM_033064.5(ATCAY):c.*1154G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329174	NM_033064.5(ATCAY):c.*1167G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329175	NM_033064.5(ATCAY):c.*1180C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329176	NM_033064.5(ATCAY):c.*1181G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329177	NM_033064.5(ATCAY):c.*1188G>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894005	NM_033064.5(ATCAY):c.*1190G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329178	NM_033064.5(ATCAY):c.*1193T>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894006	NM_033064.5(ATCAY):c.*1217A>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329179	NM_033064.5(ATCAY):c.*1235T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 894007	NM_033064.5(ATCAY):c.*1276G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 894008	NM_033064.5(ATCAY):c.*1322T>G	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329180	NM_033064.5(ATCAY):c.*1409T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329181	NM_033064.5(ATCAY):c.*1423T>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329182	NM_033064.5(ATCAY):c.*1427A>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329183	NM_033064.5(ATCAY):c.*1535G>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance
Select item 329184	NM_033064.5(ATCAY):c.*1540C>A	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329185	NM_033064.5(ATCAY):c.*1542C>T	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329186	NM_033064.5(ATCAY):c.*1586T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GBenign
Select item 329187	NM_033064.5(ATCAY):c.*1632T>C	ATCAY	Single nucleotide variant (3 prime UTR variant)	Cayman type cerebellar ataxia	GUncertain significance

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