"Ambry Genetics"[submitter] AND "CA8"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210555	NM_004056.6(CA8):c.795C>A (p.Gly265=)	CA8	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 1757896	NM_004056.6(CA8):c.724A>G (p.Ile242Val)	CA8 (I242V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1753224	NM_004056.6(CA8):c.638G>A (p.Arg213Gln)	CA8 (R213Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588261	NM_004056.6(CA8):c.576+5G>A	CA8	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1744046	NM_004056.6(CA8):c.490G>T (p.Ala164Ser)	CA8 (A164S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 128541	NM_004056.6(CA8):c.334C>T (p.Leu112=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 2477229	NM_004056.6(CA8):c.317A>G (p.Gln106Arg)	CA8 (Q106R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1728064	NM_004056.6(CA8):c.313C>T (p.Pro105Ser)	CA8 (P105S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587857	NM_004056.6(CA8):c.309A>G (p.Pro103=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 128539	NM_004056.6(CA8):c.299C>T (p.Ser100Leu)	CA8 (S100L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 2517270	NM_004056.6(CA8):c.271G>A (p.Val91Ile)	CA8 (V91I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136152	NM_004056.6(CA8):c.212C>T (p.Ser71Phe)	CA8 (S71F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589293	NM_004056.6(CA8):c.206G>T (p.Arg69Leu)	CA8 (R69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557088	NM_004056.6(CA8):c.205C>A (p.Arg69Ser)	CA8 (R69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1737316	NM_004056.6(CA8):c.101-3T>C	CA8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 128542	NM_004056.6(CA8):c.66A>G (p.Glu22=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1335712	NM_004056.6(CA8):c.41C>G (p.Pro14Arg)	CA8 (P14R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3136153	NM_004056.6(CA8):c.22G>A (p.Glu8Lys)	CA8 (E8K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136154	NM_004056.6(CA8):c.5C>T (p.Ala2Val)	CA8 (A2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 20