ClinVar for Gene (Select 4720) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 267

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358544	NM_001377299.1(NDUFS2):c.95+9G>A	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related disorder	GLikely benign
Select item 3299067	NM_001377299.1(NDUFS2):c.1033G>T (p.Ala345Ser)	NDUFS2 (A345S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299065	NM_001377299.1(NDUFS2):c.107A>T (p.Gln36Leu)	NDUFS2 (Q36L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267578	NM_005099.6(ADAMTS4):c.76C>A (p.Leu26Ile)	ADAMTS4, NDUFS2 (L26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267568	NM_005099.6(ADAMTS4):c.183C>G (p.Ile61Met)	ADAMTS4, NDUFS2 (I61M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267553	NM_005099.6(ADAMTS4):c.551A>G (p.Lys184Arg)	ADAMTS4, NDUFS2 (K184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267534	NM_005099.6(ADAMTS4):c.344C>T (p.Ala115Val)	ADAMTS4, NDUFS2 (A115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267512	NM_005099.6(ADAMTS4):c.211G>A (p.Val71Ile)	ADAMTS4, NDUFS2 (V71I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3254825	NM_001377299.1(NDUFS2):c.442G>C (p.Glu148Gln)	NDUFS2 (E148Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 3077485	NM_005099.6(ADAMTS4):c.625A>G (p.Arg209Gly)	ADAMTS4, NDUFS2 (R209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077476	NM_005099.6(ADAMTS4):c.43C>T (p.Arg15Cys)	ADAMTS4, NDUFS2 (R15C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3077466	NM_005099.6(ADAMTS4):c.301G>A (p.Gly101Ser)	ADAMTS4, NDUFS2 (G101S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077431	NM_005099.6(ADAMTS4):c.227G>A (p.Gly76Asp)	ADAMTS4, NDUFS2 (G76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077421	NM_005099.6(ADAMTS4):c.221G>A (p.Gly74Asp)	ADAMTS4, NDUFS2 (G74D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053802	NM_001377299.1(NDUFS2):c.472T>C (p.Leu158=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related disorder	GLikely benign
Select item 3051643	NM_001377299.1(NDUFS2):c.202+3G>A	NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related disorder	GLikely benign
Select item 3024829	NM_005099.6(ADAMTS4):c.298T>C (p.Ser100Pro)	ADAMTS4, NDUFS2 (S100P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2956476	NM_001377299.1(NDUFS2):c.703-13G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901771	NM_001377299.1(NDUFS2):c.16G>A (p.Ala6Thr)	LOC129931761, NDUFS2 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888421	NM_001377299.1(NDUFS2):c.75A>G (p.Arg25=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860951	NM_001377299.1(NDUFS2):c.186G>A (p.Lys62=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2858837	NM_001377299.1(NDUFS2):c.514+12del	NDUFS2	Deletion (intron variant)	not provided	GBenign
Select item 2770685	NM_001377299.1(NDUFS2):c.150T>A (p.Ala50=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2627943	NM_001377299.1(NDUFS2):c.923A>G (p.Tyr308Cys)	NDUFS2 (Y282C)	Single nucleotide variant (missense variant +1 more)	Leber-like hereditary optic neuropathy, autosomal recessive 2	GPathogenic
Select item 2615426	NM_001377299.1(NDUFS2):c.829G>C (p.Val277Leu)	NDUFS2 (V251L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610824	NM_001377299.1(NDUFS2):c.53T>G (p.Leu18Arg)	LOC129931761, NDUFS2 (L18R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605864	NM_005099.6(ADAMTS4):c.41G>A (p.Gly14Glu)	ADAMTS4, NDUFS2 (G14E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598261	NM_005099.6(ADAMTS4):c.527C>G (p.Pro176Arg)	ADAMTS4, NDUFS2 (P176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550887	NM_001377299.1(NDUFS2):c.1269G>C (p.Lys423Asn)	NDUFS2 (K423N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548127	NM_001377299.1(NDUFS2):c.175G>T (p.Ala59Ser)	NDUFS2 (A59S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537579	NM_005099.6(ADAMTS4):c.545G>A (p.Arg182His)	ADAMTS4, NDUFS2 (R182H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523435	NM_005099.6(ADAMTS4):c.205G>A (p.Gly69Ser)	ADAMTS4, NDUFS2 (G69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512660	NM_005099.6(ADAMTS4):c.272C>T (p.Thr91Met)	ADAMTS4, NDUFS2 (T91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486660	NM_001377299.1(NDUFS2):c.287G>A (p.Arg96Gln)	NDUFS2 (R96Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434092	NM_001377299.1(NDUFS2):c.1004A>T (p.Glu335Val)	NDUFS2 (E309V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425149	NC_000001.10:g.(?_161178963)_(161193683_?)dup	APOA2, FCER1G +1 more	Duplication	not provided	GUncertain significance
Select item 2419208	NM_001377299.1(NDUFS2):c.536G>A (p.Arg179His)	NDUFS2 (R179H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416437	NM_001377299.1(NDUFS2):c.1213-6G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413148	NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)	NDUFS2 (L82Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 2374200	NM_005099.6(ADAMTS4):c.25G>A (p.Gly9Arg)	ADAMTS4, NDUFS2 (G9R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353295	NM_005099.6(ADAMTS4):c.251G>A (p.Arg84His)	ADAMTS4, NDUFS2 (R84H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323889	NM_001377299.1(NDUFS2):c.1373T>A (p.Phe458Tyr)	NDUFS2 (F432Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2309917	NM_001377299.1(NDUFS2):c.410A>G (p.Asp137Gly)	NDUFS2 (D137G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307086	NM_005099.6(ADAMTS4):c.376A>G (p.Thr126Ala)	ADAMTS4, NDUFS2 (T126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302327	NM_001377299.1(NDUFS2):c.682C>T (p.Arg228Trp)	NDUFS2 (R228W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299180	NM_005099.6(ADAMTS4):c.20A>G (p.His7Arg)	ADAMTS4, NDUFS2 (H7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279296	NM_005099.6(ADAMTS4):c.548G>A (p.Arg183Gln)	ADAMTS4, NDUFS2 (R183Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257408	NM_005099.6(ADAMTS4):c.184G>A (p.Val62Met)	ADAMTS4, NDUFS2 (V62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255821	NM_001377299.1(NDUFS2):c.80C>G (p.Pro27Arg)	LOC129931761, NDUFS2 (P27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231819	NM_001377299.1(NDUFS2):c.595C>T (p.Pro199Ser)	NDUFS2 (P199S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202876	NM_001377299.1(NDUFS2):c.413G>A (p.Arg138Gln)	NDUFS2 (R138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202875	NM_001377299.1(NDUFS2):c.329A>T (p.Asp110Val)	NDUFS2 (D110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192777	NM_001377299.1(NDUFS2):c.25G>A (p.Gly9Ser)	LOC129931761, NDUFS2 (G9S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185433	NM_001377299.1(NDUFS2):c.780+6C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2170214	NM_001377299.1(NDUFS2):c.146G>A (p.Gly49Glu)	NDUFS2 (G49E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167412	NM_001377299.1(NDUFS2):c.168A>C (p.Lys56Asn)	NDUFS2 (K56N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2148391	NM_001377299.1(NDUFS2):c.629T>C (p.Met210Thr)	NDUFS2 (M210T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136289	NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)	LOC129931761, NDUFS2 (P20L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 2134809	NM_001377299.1(NDUFS2):c.627+4A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2128530	NM_001377299.1(NDUFS2):c.203-8C>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121529	NM_001377299.1(NDUFS2):c.567A>G (p.Thr189=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2113916	NM_001377299.1(NDUFS2):c.646C>A (p.Arg216=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2110058	NM_001377299.1(NDUFS2):c.628-8C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107998	NM_001377299.1(NDUFS2):c.969A>G (p.Arg323=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2105492	NM_001377299.1(NDUFS2):c.672T>C (p.Ala224=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099596	NM_001377299.1(NDUFS2):c.595C>A (p.Pro199Thr)	NDUFS2 (P199T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097872	NM_001377299.1(NDUFS2):c.867-3C>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2080182	NM_001377299.1(NDUFS2):c.730A>T (p.Ile244Phe)	NDUFS2 (I244F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080147	NM_001377299.1(NDUFS2):c.1047_1049del (p.Asn349del)	NDUFS2 (N349del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2064327	NM_001377299.1(NDUFS2):c.122T>G (p.Val41Gly)	NDUFS2 (V41G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051920	NM_001377299.1(NDUFS2):c.660C>T (p.Ala220=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2029469	NM_001377299.1(NDUFS2):c.515-20T>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013087	NM_001377299.1(NDUFS2):c.1089G>T (p.Val363=)	NDUFS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010294	NM_001377299.1(NDUFS2):c.867-1G>A	NDUFS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1991136	NM_001377299.1(NDUFS2):c.95+11G>A	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987432	NM_001377299.1(NDUFS2):c.1321G>A (p.Gly441Arg)	NDUFS2 (G441R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975520	NM_001377299.1(NDUFS2):c.96-17T>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973021	NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)	NDUFS2 (V448I +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GUncertain significance
Select item 1967017	NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)	NDUFS2 (E256A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1960484	NM_001377299.1(NDUFS2):c.813G>T (p.Arg271=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948439	NM_001377299.1(NDUFS2):c.63G>T (p.Gly21=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941308	NM_001377299.1(NDUFS2):c.1354+18T>C	NDUFS2	Single nucleotide variant (stop lost +2 more)	not provided	GLikely benign
Select item 1930306	NM_001377299.1(NDUFS2):c.1322G>A (p.Gly441Glu)	NDUFS2 (G441E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921670	NM_001377299.1(NDUFS2):c.1116+6C>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1914891	NM_001377299.1(NDUFS2):c.986+13T>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914060	NM_001377299.1(NDUFS2):c.781-16T>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912413	NM_001377299.1(NDUFS2):c.780+16A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912335	NM_001377299.1(NDUFS2):c.267A>G (p.Pro89=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910056	NM_001377299.1(NDUFS2):c.393+5G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908880	NM_001377299.1(NDUFS2):c.702+20C>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896745	NM_001377299.1(NDUFS2):c.492T>G (p.Pro164=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1810179	NM_001377299.1(NDUFS2):c.1387C>G (p.Arg463Gly)	NDUFS2 (R437G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1801727	NM_001377299.1(NDUFS2):c.1116G>A (p.Lys372=)	NDUFS2	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1713829	NM_001377299.1(NDUFS2):c.1387C>T (p.Arg463Trp)	NDUFS2 (R437W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1709667	NM_001377299.1(NDUFS2):c.860G>A (p.Gly287Asp)	NDUFS2 (G261D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 1691709	NM_001377299.1(NDUFS2):c.96-2A>G	NDUFS2	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1671173	NM_001377299.1(NDUFS2):c.114G>A (p.Gln38=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1662852	NM_001377299.1(NDUFS2):c.515-10G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3