Related gene-specific medical variations for Gene (Select 4716) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2881860	NM_004548.3(NDUFB10):c.409+3G>A	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2806970	NM_004548.3(NDUFB10):c.402G>A (p.Gln134=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780741	NM_004548.3(NDUFB10):c.372G>A (p.Glu124=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715025	NM_004548.3(NDUFB10):c.400C>G (p.Gln134Glu)	LOC130058198, NDUFB10 (Q134E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645953	NM_004548.3(NDUFB10):c.409+59C>T	LOC130058199, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2614277	NM_004548.3(NDUFB10):c.339G>T (p.Gln113His)	LOC130058198, NDUFB10 (Q113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2419459	NM_004548.3(NDUFB10):c.401_409+10del	LOC130058198, NDUFB10	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2327737	NM_004548.3(NDUFB10):c.359T>C (p.Ile120Thr)	LOC130058198, NDUFB10 (I120T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142415	NM_004548.3(NDUFB10):c.329G>T (p.Arg110Met)	LOC130058198, NDUFB10 (R110M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2110966	NM_004548.3(NDUFB10):c.341dup (p.Asn114fs)	LOC130058198, NDUFB10 (N114fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2093069	NM_004548.3(NDUFB10):c.276C>G (p.Val92=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081475	NM_004548.3(NDUFB10):c.389C>T (p.Ala130Val)	LOC130058198, NDUFB10 (A130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037885	NM_004548.3(NDUFB10):c.381C>T (p.Thr127=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007471	NM_004548.3(NDUFB10):c.270-7C>T	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973993	NM_004548.3(NDUFB10):c.357dup (p.Ile120fs)	LOC130058198, NDUFB10 (I120fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1965123	NM_004548.3(NDUFB10):c.409+10C>G	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977508	NM_004548.3(NDUFB10):c.319T>C (p.Cys107Arg)	LOC130058198, NDUFB10 (C107R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 35	GPathogenic
Select item 735859	NM_004548.3(NDUFB10):c.409+9C>G	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713530	NM_004548.3(NDUFB10):c.279C>T (p.Asp93=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GBenign