"Ambry Genetics"[submitter] AND "NDUFS1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2462447	NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)	NDUFS1 (I655V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894804	NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)	NDUFS1 (D546N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1476812	NM_005006.7(NDUFS1):c.1853A>G (p.Glu618Gly)	NDUFS1 (E561G +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1959566	NM_005006.7(NDUFS1):c.1787A>G (p.Tyr596Cys)	NDUFS1 (Y485C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187128	NM_005006.7(NDUFS1):c.1780G>A (p.Ala594Thr)	NDUFS1 (A558T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2371995	NM_005006.7(NDUFS1):c.1759G>C (p.Ala587Pro)	NDUFS1 (A530P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894805	NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)	NDUFS1 (I526T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2519681	NM_005006.7(NDUFS1):c.1670G>A (p.Arg557Gln)	NDUFS1 (R557Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1911018	NM_005006.7(NDUFS1):c.1666A>C (p.Thr556Pro)	NDUFS1 (T556P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2277729	NM_005006.7(NDUFS1):c.1646G>A (p.Gly549Glu)	NDUFS1 (G549E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618983	NM_005006.7(NDUFS1):c.1630G>T (p.Val544Leu)	NDUFS1 (V508L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462027	NM_005006.7(NDUFS1):c.1610T>C (p.Ile537Thr)	NDUFS1 (I426T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214774	NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)	NDUFS1 (V534M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2148874	NM_005006.7(NDUFS1):c.1505T>G (p.Met502Arg)	NDUFS1 (M466R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2397919	NM_005006.7(NDUFS1):c.1502G>A (p.Arg501Gln)	NDUFS1 (R444Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409949	NM_005006.7(NDUFS1):c.1417A>G (p.Met473Val)	NDUFS1 (M362V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059396	NM_005006.7(NDUFS1):c.1370C>T (p.Ser457Leu)	NDUFS1 (S471L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433667	NM_005006.7(NDUFS1):c.1349A>G (p.Lys450Arg)	NDUFS1 (K339R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327931	NM_005006.7(NDUFS1):c.1336G>A (p.Gly446Arg)	NDUFS1 (G446R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2161999	NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)	NDUFS1 (H408Y +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +2 more	GUncertain significance
Select item 2485777	NM_005006.7(NDUFS1):c.1275T>A (p.Asn425Lys)	NDUFS1 (N439K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604114	NM_005006.7(NDUFS1):c.1194T>G (p.Asp398Glu)	NDUFS1 (D287E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322802	NM_005006.7(NDUFS1):c.1154A>G (p.Tyr385Cys)	NDUFS1 (Y328C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064601	NM_005006.7(NDUFS1):c.1145G>A (p.Arg382His)	NDUFS1 (R382H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1421957	NM_005006.7(NDUFS1):c.1071G>C (p.Leu357Phe)	NDUFS1 (L246F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2351266	NM_005006.7(NDUFS1):c.926A>G (p.Asn309Ser)	NDUFS1 (N309S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979126	NM_005006.7(NDUFS1):c.876T>G (p.Phe292Leu)	NDUFS1 (F292L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1944055	NM_005006.7(NDUFS1):c.827G>A (p.Arg276His)	NDUFS1 (R219H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032963	NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)	NDUFS1 (R219C +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2308108	NM_005006.7(NDUFS1):c.503del (p.Leu168fs)	NDUFS1 (L168fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2243036	NM_005006.7(NDUFS1):c.350T>G (p.Met117Arg)	NDUFS1 (M131R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1416216	NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr)	NDUFS1 (S109T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 214767	NM_005006.7(NDUFS1):c.253G>A (p.Ala85Thr)	NDUFS1 (A85T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2300592	NM_005006.7(NDUFS1):c.209C>T (p.Ser70Phe)	NDUFS1 (S13F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214781	NM_005006.7(NDUFS1):c.185G>A (p.Arg62Gln)	NDUFS1 (R62Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2231806	NM_005006.7(NDUFS1):c.169G>A (p.Gly57Ser)	NDUFS1 (G57S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1450898	NM_005006.7(NDUFS1):c.153+6C>G	NDUFS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2512053	NM_005006.7(NDUFS1):c.145G>A (p.Val49Ile)	NDUFS1 (V63I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399065	NM_005006.7(NDUFS1):c.134C>T (p.Pro45Leu)	NDUFS1 (P59L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220350	NM_005006.7(NDUFS1):c.127G>A (p.Val43Met)	NDUFS1 (V57M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521793	NM_005006.7(NDUFS1):c.109G>C (p.Asp37His)	NDUFS1 (D37H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 41