ClinVar for OMIM (Select 618226) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254828	NM_005006.7(NDUFS1):c.1298_1325del (p.Gly433fs)	NDUFS1 (G322fs +4 more)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 3254827	NM_005006.7(NDUFS1):c.1880_1881del (p.Leu626_Ser627insTer)	NDUFS1	Microsatellite (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 3254569	NM_005006.7(NDUFS1):c.548T>G (p.Ile183Ser)	NDUFS1 (I126S +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 3238827	NM_005006.7(NDUFS1):c.1717G>A (p.Gly573Ser)	NDUFS1 (G462S +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
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 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 2671708	NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)	NDUFS1 (Y553D +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2671664	NM_005006.7(NDUFS1):c.1651G>T (p.Asp551Tyr)	NDUFS1 (D440Y +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2627982	NM_005006.7(NDUFS1):c.389T>A (p.Ile130Asn)	NDUFS1 (I130N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2506502	NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)	NDUFS1 (S590N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2161999	NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)	NDUFS1 (H408Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1878621	NM_005006.7(NDUFS1):c.1546C>T (p.Leu516Phe)	NDUFS1 (L405F +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 1806240	NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)	NDUFS1 (P45Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 1804014	NM_005006.7(NDUFS1):c.988-2A>C	NDUFS1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 1705539	NM_005006.7(NDUFS1):c.1776G>T (p.Lys592Asn)	NDUFS1 (K481N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	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 1339030	NM_005006.7(NDUFS1):c.586G>A (p.Gly196Arg)	NDUFS1 (G139R +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 1299429	NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile)	NDUFS1 (V603I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299425	NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter)	NDUFS1 (R5* +2 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 1291403	NM_005006.7(NDUFS1):c.1134-32G>T	NDUFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1284469	NM_005006.7(NDUFS1):c.154-13_154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely benign
Select item 1201222	NM_005006.7(NDUFS1):c.154-33dup	NDUFS1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1030868	NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala)	NDUFS1 (T330A +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GUncertain significance
Select item 930983	NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln)	NDUFS1 (R22Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 916684	NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr)	NDUFS1 (R198T +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 872972	NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met)	NDUFS1 (V318M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 800992	NM_005006.7(NDUFS1):c.-5+236T>C	NDUFS1 (L10P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 800917	NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)	NDUFS1 (M721I +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 691613	NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile)	NDUFS1 (V354I +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 632336	NM_005006.7(NDUFS1):c.737+1G>A	NDUFS1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 631541	NM_005006.7(NDUFS1):c.1554-1G>A	NDUFS1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 626277	NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)	NDUFS1 (R22* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 559163	NM_005006.7(NDUFS1):c.154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GLikely benign
Select item 432383	NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His)	NDUFS1 (R408H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 429933	NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala)	NDUFS1 (V228A +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GPathogenic/Likely pathogenic
Select item 417877	NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)	NDUFS1 (T303S +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GUncertain significance
Select item 333781	NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	NDUFS1 (V506I +4 more)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 333780	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	NDUFS1 (N669S +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 333779	NM_005006.7(NDUFS1):c.*27C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 281629	NM_005006.7(NDUFS1):c.154-11_154-9del	NDUFS1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 214772	NM_005006.7(NDUFS1):c.1393-2A>C	NDUFS1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +2 more	GPathogenic/Likely pathogenic
Select item 214770	NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)	NDUFS1 (I177V +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 138481	NM_005006.7(NDUFS1):c.2019+18A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 138480	NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	NDUFS1	Single nucleotide variant (synonymous variant)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 138479	NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)	NDUFS1 (L431V +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +5 more	GConflicting classifications of pathogenicity
Select item 129696	NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)	NDUFS1	Single nucleotide variant (synonymous variant)	Leigh syndrome +4 more	GBenign
Select item 129695	NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)	NDUFS1	Single nucleotide variant (synonymous variant)	Leigh syndrome +4 more	GBenign
Select item 50924	NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)	NDUFS1 (R408C +4 more)	Single nucleotide variant (missense variant)	NDUFS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 50923	NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter)	NDUFS1 (R557* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 50922	NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn)	NDUFS1 (D619N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 31914	NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala)	NDUFS1 (T595A +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 14233	NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)	NDUFS1 (L231V +4 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 14232	NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)	NDUFS1 (R241W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 14231	NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)	NDUFS1 (D252G +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14230	NM_005006.7(NDUFS1):c.666_668del (p.Ile223del)	NDUFS1 (I223del +4 more)	Deletion (inframe_deletion)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic

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Links from OMIM

Items: 60