"PreventionGenetics, part of Exact Sciences"[submitter] AND "NDUFV1"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214846	NM_007103.4(NDUFV1):c.-45T>G	LOC130006217, NDUFV1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138504	NM_007103.4(NDUFV1):c.72+15G>T	NDUFV1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 372715	NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	NDUFV1 (S56P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +5 more	GConflicting classifications of pathogenicity
Select item 516388	NM_007103.4(NDUFV1):c.219C>T (p.Pro73=)	NDUFV1	Single nucleotide variant (synonymous variant)	NDUFV1-related disorder +1 more	GBenign/Likely benign
Select item 2634950	NM_007103.4(NDUFV1):c.296G>A (p.Trp99Ter)	NDUFV1 (W90* +1 more)	Single nucleotide variant (nonsense)	NDUFV1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 138500	NM_007103.4(NDUFV1):c.348C>T (p.Asn116=)	NDUFV1	Single nucleotide variant (synonymous variant)	NDUFV1-related disorder +2 more	GBenign/Likely benign
Select item 305744	NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)	NDUFV1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 715643	NM_007103.4(NDUFV1):c.435G>A (p.Gly145=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1576008	NM_007103.4(NDUFV1):c.456C>T (p.Arg152=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 723260	NM_007103.4(NDUFV1):c.582C>T (p.Asp194=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1603205	NM_007103.4(NDUFV1):c.753C>T (p.Ser251=)	NDUFV1	Single nucleotide variant (synonymous variant)	NDUFV1-related disorder +1 more	GLikely benign
Select item 2632561	NM_007103.4(NDUFV1):c.900dup (p.Glu301Ter)	NDUFV1 (E292* +1 more)	Duplication (nonsense)	NDUFV1-related disorder	GLikely pathogenic
Select item 305753	NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)	NDUFV1 (R359C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 496918	NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	NDUFV1, LOC126861242 (R386H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +4 more	GConflicting classifications of pathogenicity
Select item 2116309	NM_007103.4(NDUFV1):c.1265A>G (p.His422Arg)	LOC126861242, NDUFV1 (H422R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1575271	NM_007103.4(NDUFV1):c.1287C>T (p.Asp429=)	NDUFV1, LOC126861242	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2976408	NM_007103.4(NDUFV1):c.1377C>T (p.Ala459=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1219770	NM_007103.4(NDUFV1):c.*7A>G	LOC126861242, NDUFV1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign