Related gene-specific medical variations for Gene (Select 4719) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068192	NM_005006.7(NDUFS1):c.1364T>C (p.Ile455Thr)	NDUFS1 (I344T +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 3050783	NM_005006.7(NDUFS1):c.-5+207G>T	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant +1 more)	NDUFS1-related condition	GLikely benign
Select item 2690651	NM_005006.7(NDUFS1):c.1119dup (p.Thr374fs)	NDUFS1 (T263fs +4 more)	Duplication (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 2689553	NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)	NDUFS1 (D137Y +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2689552	NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)	NDUFS1 (E284K +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2434091	NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)	NDUFS1 (Q220H +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2434090	NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)	NDUFS1 (D136G +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 1324785	NM_005006.7(NDUFS1):c.1810C>T (p.Gln604Ter)	NDUFS1 (Q493* +4 more)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 1296487	NM_005006.7(NDUFS1):c.-5+137G>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 898015	NM_005006.7(NDUFS1):c.-101G>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 898014	NM_005006.7(NDUFS1):c.-76G>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 896387	NM_005006.7(NDUFS1):c.-75A>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 896386	NM_005006.7(NDUFS1):c.-73C>A	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 896385	NM_005006.7(NDUFS1):c.-64T>C	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 896384	NM_005006.7(NDUFS1):c.-61G>C	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 894950	NM_005006.7(NDUFS1):c.-38T>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 894949	NM_005006.7(NDUFS1):c.-31A>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 512564	NM_005006.7(NDUFS1):c.-5+18T>C	LOC129935473, NDUFS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 444548	NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs)	NDUFS1 (G422fs +4 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 333790	NM_005006.7(NDUFS1):c.-47C>G	LOC129935473, NDUFS1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 259606	NM_005006.7(NDUFS1):c.1392+19T>C	NDUFS1	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 21