Related gene-specific medical variations for Gene (Select 4694) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033518	NM_004541.4(NDUFA1):c.16C>T (p.Leu6Phe)	LOC130068621, NDUFA1 (L6F)	Single nucleotide variant (missense variant)	NDUFA1-related disorder	GUncertain significance
Select item 2661308	NM_004541.4(NDUFA1):c.84G>A (p.Arg28=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506730	NM_004541.4(NDUFA1):c.77T>C (p.Ile26Thr)	LOC130068621, NDUFA1 (I26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184789	NM_004541.4(NDUFA1):c.102+5G>A	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2182710	NM_004541.4(NDUFA1):c.39C>T (p.Gly13=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078853	NM_004541.4(NDUFA1):c.102+7C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007196	NM_004541.4(NDUFA1):c.35T>C (p.Met12Thr)	LOC130068621, NDUFA1 (M12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988194	NM_004541.4(NDUFA1):c.102+13C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945956	NM_004541.4(NDUFA1):c.102+19G>A	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1741788	NM_004541.4(NDUFA1):c.45C>T (p.Cys15=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1312864	NM_004541.4(NDUFA1):c.70_73del (p.Ala24fs)	LOC130068621, NDUFA1 (A24fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 512111	NM_004541.4(NDUFA1):c.-44C>G	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511289	NM_004541.4(NDUFA1):c.102+17C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 378240	NM_004541.4(NDUFA1):c.-33A>C	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 193286	NM_004541.4(NDUFA1):c.-4A>G	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 36974	NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)	LOC130068621, NDUFA1 (G32R)	Single nucleotide variant (missense variant)	NDUFA1-related disorder +4 more	GBenign/Likely benign
Select item 11648	NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg)	LOC130068621, NDUFA1 (G8R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 12	GPathogenic