"GeneDx"[submitter] AND "CA8"[gene] - ClinVar

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Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220589	NM_004056.6(CA8):c.739-241A>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280224	NM_004056.6(CA8):c.739-305C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234590	NM_004056.6(CA8):c.738+310_738+311del	CA8 (L253fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 1271120	NM_004056.6(CA8):c.738+213C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269883	NM_004056.6(CA8):c.576+282A>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296082	NM_004056.6(CA8):c.576+152G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174236	NM_004056.6(CA8):c.576+113G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266112	NM_004056.6(CA8):c.514-113A>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275161	NM_004056.6(CA8):c.514-153C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228305	NM_004056.6(CA8):c.514-169G>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267451	NM_004056.6(CA8):c.513+53C>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249840	NM_004056.6(CA8):c.418-208T>C	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275439	NM_004056.6(CA8):c.417+822C>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267510	NM_004056.6(CA8):c.417+196C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128540	NM_004056.6(CA8):c.327A>G (p.Glu109=)	CA8	Single nucleotide variant (synonymous variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +2 more	GBenign
Select item 1260156	NM_004056.6(CA8):c.293-69del	CA8	Deletion (intron variant)	not provided	GBenign
Select item 1253906	NM_004056.6(CA8):c.101-95G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291535	NM_004056.6(CA8):c.101-103C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226001	NM_004056.6(CA8):c.100+237C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272342	NM_004056.6(CA8):c.100+160T>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233552	NM_004056.6(CA8):c.100+154T>C	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192673	NM_004056.6(CA8):c.100+85T>C	CA8	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +1 more	GBenign
Select item 1296088	NM_004056.6(CA8):c.100+81C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247146	NM_004056.6(CA8):c.100+37G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228665	NM_004056.6(CA8):c.100+19G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192674	NM_004056.6(CA8):c.-54A>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +1 more	GBenign
Select item 1192675	NM_004056.6(CA8):c.-103T>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +1 more	GBenign
Select item 1229393	NM_004056.6(CA8):c.-122T>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1239705	NM_004056.6(CA8):c.-137G>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1255098	NM_004056.6(CA8):c.-223G>A	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1275390	NC_000008.11:g.60281611T>G	CA8	Single nucleotide variant	not provided	GBenign
Select item 1267844	NC_000008.11:g.60281685C>T	CA8	Single nucleotide variant	not provided	GBenign

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Items: 32