Related gene-specific medical variations for Gene (Select 65260) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047707	NM_023077.3(COA7):c.447T>C (p.Ser149=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	COA7-related disorder	GLikely benign
Select item 3045661	NM_023077.3(COA7):c.-6C>T	COA7, LOC129930554	Single nucleotide variant (5 prime UTR variant)	COA7-related disorder	GLikely benign
Select item 3026114	NM_023077.3(COA7):c.407A>G (p.Asp136Gly)	LOC129388524, COA7 (D136G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178722	NM_023077.3(COA7):c.297G>A (p.Ala99=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010945	NM_023077.3(COA7):c.346C>T (p.Leu116Phe)	COA7, LOC129388524 (L116F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968503	NM_023077.3(COA7):c.339C>T (p.Asn113=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917973	NM_023077.3(COA7):c.340G>A (p.Val114Ile)	COA7, LOC129388524 (V114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334978	NM_023077.3(COA7):c.275C>T (p.Ala92Val)	COA7, LOC129388524 (A92V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806136	NM_023077.3(COA7):c.574C>T (p.Arg192Cys)	COA7 (R192C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739450	NM_023077.3(COA7):c.330A>G (p.Ala110=)	COA7, LOC129388524	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625461	NM_023077.3(COA7):c.431del (p.Gly144fs)	COA7, LOC129388524 (G144fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 625459	NM_023077.3(COA7):c.446G>T (p.Ser149Ile)	COA7, LOC129388524 (S149I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 438350	NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)	COA7, LOC129388524 (Y137C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic