"GeneDx"[submitter] AND "NDUFS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 895906	NM_005006.7(NDUFS1):c.*574T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 333771	NM_005006.7(NDUFS1):c.*457T>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 896190	NM_005006.7(NDUFS1):c.*426T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333773	NM_005006.7(NDUFS1):c.*399G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 897792	NM_005006.7(NDUFS1):c.*341A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 333774	NM_005006.7(NDUFS1):c.*336G>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 333775	NM_005006.7(NDUFS1):c.*256C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 898934	NM_005006.7(NDUFS1):c.*53T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 561063	NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)	NDUFS1 (C710Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214785	NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)	NDUFS1 (A703T +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1213664	NM_005006.7(NDUFS1):c.2093-54T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683068	NM_005006.7(NDUFS1):c.2093-170G>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683049	NM_005006.7(NDUFS1):c.2092+279T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242204	NM_005006.7(NDUFS1):c.2092+149A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303013	NM_005006.7(NDUFS1):c.2084A>G (p.Tyr695Cys)	NDUFS1 (Y584C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2462447	NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)	NDUFS1 (I655V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 138481	NM_005006.7(NDUFS1):c.2019+18A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 333780	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	NDUFS1 (N669S +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 817012	NM_005006.7(NDUFS1):c.1950_1951del (p.Ser650_Pro651insTer)	NDUFS1	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1197145	NM_005006.7(NDUFS1):c.1884+247A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198675	NM_005006.7(NDUFS1):c.1884+164T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230684	NM_005006.7(NDUFS1):c.1884+150C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214777	NM_005006.7(NDUFS1):c.1800G>C (p.Glu600Asp)	NDUFS1 (E600D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 214784	NM_005006.7(NDUFS1):c.1727G>A (p.Gly576Glu)	NDUFS1 (G576E +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1223874	NM_005006.7(NDUFS1):c.1709-288C>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669517	NM_005006.7(NDUFS1):c.1709-291A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509770	NM_005006.7(NDUFS1):c.1708+19A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 214768	NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val)	NDUFS1 (I567V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214775	NM_005006.7(NDUFS1):c.1696A>T (p.Ile566Phe)	NDUFS1 (I566F +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 384208	NM_005006.7(NDUFS1):c.1668A>G (p.Thr556=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1030869	NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)	NDUFS1 (P506S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 896255	NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)	NDUFS1 (R481W +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 214774	NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)	NDUFS1 (V534M +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1291404	NM_005006.7(NDUFS1):c.1554-44T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265950	NM_005006.7(NDUFS1):c.1554-123AAAAT[5]	NDUFS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1183532	NM_005006.7(NDUFS1):c.1554-116_1554-115del	NDUFS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1258916	NM_005006.7(NDUFS1):c.1554-152C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673223	NM_005006.7(NDUFS1):c.1554-181_1554-157del	NDUFS1	Deletion (intron variant)	not provided	GLikely benign
Select item 683048	NM_005006.7(NDUFS1):c.1554-173G>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683046	NM_005006.7(NDUFS1):c.1554-274C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683045	NM_005006.7(NDUFS1):c.1553+250C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188494	NM_005006.7(NDUFS1):c.1553+132A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261555	NM_005006.7(NDUFS1):c.1553+24T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2045627	NM_005006.7(NDUFS1):c.1522G>A (p.Gly508Ser)	NDUFS1 (G472S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214773	NM_005006.7(NDUFS1):c.1423G>T (p.Val475Phe)	NDUFS1 (V475F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801107	NM_005006.7(NDUFS1):c.1405G>A (p.Ala469Thr)	NDUFS1 (A358T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214772	NM_005006.7(NDUFS1):c.1393-2A>C	NDUFS1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 897860	NM_005006.7(NDUFS1):c.1393-7T>A	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 1215597	NM_005006.7(NDUFS1):c.1393-129G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683042	NM_005006.7(NDUFS1):c.1393-221T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200217	NM_005006.7(NDUFS1):c.1393-298A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233168	NM_005006.7(NDUFS1):c.1392+249C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138480	NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +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 1 deficiency, nuclear type 5 +5 more	GConflicting classifications of pathogenicity
Select item 1273392	NM_005006.7(NDUFS1):c.1263-101del	NDUFS1	Deletion (intron variant)	not provided	GBenign
Select item 669516	NM_005006.7(NDUFS1):c.1263-333A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208265	NM_005006.7(NDUFS1):c.1262+325C>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683041	NM_005006.7(NDUFS1):c.1262+199C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683826	NM_005006.7(NDUFS1):c.1262+143G>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262284	NM_005006.7(NDUFS1):c.1262+126_1262+127dup	NDUFS1	Duplication (intron variant)	not provided	GBenign
Select item 1233769	NM_005006.7(NDUFS1):c.1262+126dup	NDUFS1	Duplication (intron variant)	not provided	GBenign
Select item 378253	NM_005006.7(NDUFS1):c.1262+17A>G	NDUFS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 129695	NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GBenign
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 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 1430530	NM_005006.7(NDUFS1):c.1171A>G (p.Ile391Val)	NDUFS1 (I280V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 675727	NM_005006.7(NDUFS1):c.1134-15A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291403	NM_005006.7(NDUFS1):c.1134-32G>T	NDUFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1253452	NM_005006.7(NDUFS1):c.1133+284dup	NDUFS1	Duplication (intron variant)	not provided	GBenign
Select item 682758	NM_005006.7(NDUFS1):c.1133+283G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669514	NM_005006.7(NDUFS1):c.1133+233C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673222	NM_005006.7(NDUFS1):c.1133+194C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138478	NM_005006.7(NDUFS1):c.1133+20G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 333784	NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)	NDUFS1 (T374A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 378252	NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138477	NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 513600	NM_005006.7(NDUFS1):c.1014G>A (p.Val338=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1195408	NM_005006.7(NDUFS1):c.988-38G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293239	NM_005006.7(NDUFS1):c.988-91G>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190484	NM_005006.7(NDUFS1):c.987+188C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219512	NM_005006.7(NDUFS1):c.987+181A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280343	NM_005006.7(NDUFS1):c.987+171_987+172insAG	NDUFS1	Insertion (intron variant)	not provided	GBenign
Select item 1277096	NM_005006.7(NDUFS1):c.987+66_987+67insA	NDUFS1	Insertion (intron variant)	not provided	GBenign
Select item 511196	NM_005006.7(NDUFS1):c.987+18dup	NDUFS1	Duplication (intron variant)	not specified	GLikely benign
Select item 138476	NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 1307682	NM_005006.7(NDUFS1):c.974G>A (p.Arg325His)	NDUFS1 (R214H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129696	NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1307131	NM_005006.7(NDUFS1):c.944C>T (p.Thr315Ile)	NDUFS1 (T204I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388247	NM_005006.7(NDUFS1):c.933A>G (p.Lys311=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 389480	NM_005006.7(NDUFS1):c.873-9G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259503	NM_005006.7(NDUFS1):c.872+255T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710700	NM_005006.7(NDUFS1):c.841A>G (p.Ile281Val)	NDUFS1 (I170V +4 more)	Single nucleotide variant (missense variant)	not provided	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 14231	NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)	NDUFS1 (D252G +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 506815	NM_005006.7(NDUFS1):c.738-20A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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