ClinVar for MedGen (Select 940569) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239850	NM_002495.4(NDUFS4):c.114del (p.Thr39fs)	NDUFS4 (T39fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 3239849	NM_002495.4(NDUFS4):c.295del (p.Met99fs)	NDUFS4 (M99fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 3239848	NM_002495.4(NDUFS4):c.20C>G (p.Ser7Ter)	LOC129993885, NDUFS4 (S7*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676999	NM_002495.4(NDUFS4):c.136dup (p.Gln46fs)	NDUFS4 (Q46fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676998	NM_002495.4(NDUFS4):c.351-2A>C	NDUFS4	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676997	NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter)	NDUFS4 (Y160*)	Duplication (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676996	NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)	NDUFS4 (W114*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676994	NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)	NDUFS4 (G142*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676993	NM_002495.4(NDUFS4):c.235del (p.Ile79fs)	NDUFS4 (I79fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676992	NM_002495.4(NDUFS4):c.424+2T>A	NDUFS4	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2676991	NM_002495.4(NDUFS4):c.26del (p.Val9fs)	LOC129993885, NDUFS4 (V9fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2676990	NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter)	NDUFS4 (E139*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2671778	NM_002495.4(NDUFS4):c.351-2A>G	NDUFS4	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2502291	NM_002495.4(NDUFS4):c.351-1G>C	NDUFS4	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2498078	NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)	TIMMDC1 (K64fs)	Deletion (frameshift variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2445773	NM_002495.4(NDUFS4):c.221del (p.Thr74fs)	NDUFS4 (T74fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2442174	NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)	LOC129993885, NDUFS4 (M1I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2231090	NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)	NDUFS4 (W107fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2203649	NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)	NDUFS4 (E132fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1693584	NM_002495.4(NDUFS4):c.350+1G>A	NDUFS4	Single nucleotide variant (splice donor variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1332824	NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly)	NDUFV1 (D118G +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 1034349	NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met)	LOC126861242, NDUFV1 (V400M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033831	NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu)	TIMMDC1 (K249E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1033830	NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln)	TIMMDC1 (R225Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033829	NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)	TIMMDC1 (R59W)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1033617	NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu)	LOC130065433, NDUFAF5 (A59E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1033487	NM_018480.7(TMEM126B):c.589A>G (p.Met197Val)	TMEM126B (M151V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 1032962	NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del)	NDUFS1 (V343del +4 more)	Microsatellite (inframe_deletion)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1032908	NM_001377299.1(NDUFS2):c.628-17del	NDUFS2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032805	NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)	TMEM126B (Y107fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1031803	NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser)	NDUFAF4 (P90S)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1031701	NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys)	NDUFV1 (E291K +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1031700	NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala)	NDUFV1 (S167A +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1031699	NM_007103.4(NDUFV1):c.343G>A (p.Val115Met)	NDUFV1 (V106M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1031698	NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp)	LOC126861242, NDUFV1 (R443W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1030872	NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val)	NDUFS1 (A173V +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1030871	NM_005006.7(NDUFS1):c.280A>G (p.Met94Val)	NDUFS1 (M37V +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1030870	NM_005006.7(NDUFS1):c.2092+9T>C	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
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 1030569	NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr)	TIMMDC1 (I193T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030191	NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr)	NDUFV1 (S47T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029291	NM_175614.5(NDUFA11):c.205G>A (p.Val69Met)	NDUFA11 (V69M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1028713	NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu)	LOC130062145, NDUFV2 (R10L)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1028294	NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys)	LOC130065433, NDUFAF5 (N45K)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1028023	NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr)	NDUFS4 (R169T)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 996909	NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)	LOC126861242, NDUFV1 (R396W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 981058	NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs)	NDUFS4 (Y160fs)	Duplication (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 930177	NM_002495.4(NDUFS4):c.350+5G>A	NDUFS4	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic
Select item 928737	NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)	NDUFS4 (Y160fs)	Duplication (3 prime UTR variant +2 more)	Leigh syndrome +1 more	GLikely pathogenic
Select item 911911	NM_014165.4(NDUFAF4):c.-11G>T	LOC129996857, NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 911910	NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 911909	NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 911847	NM_014165.4(NDUFAF4):c.*1213C>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 911846	NM_014165.4(NDUFAF4):c.*1214G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely benign
Select item 910678	NM_014165.4(NDUFAF4):c.*14A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910677	NM_014165.4(NDUFAF4):c.*119T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910628	NM_014165.4(NDUFAF4):c.*1247A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910627	NM_014165.4(NDUFAF4):c.*1299G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely benign
Select item 910626	NM_014165.4(NDUFAF4):c.*1334G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910625	NM_014165.4(NDUFAF4):c.*1368A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 909770	NM_014165.4(NDUFAF4):c.*289C>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 909769	NM_014165.4(NDUFAF4):c.*305C>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 909701	NM_014165.4(NDUFAF4):c.*1728G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908970	NM_014165.4(NDUFAF4):c.-65C>G	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908969	NM_014165.4(NDUFAF4):c.-20G>T	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908902	NM_014165.4(NDUFAF4):c.*482A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908901	NM_014165.4(NDUFAF4):c.*639A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 908900	NM_014165.4(NDUFAF4):c.*782T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 907813	NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)	NDUFAF2 (I46V)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 907333	NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)	NDUFS4 (R36K)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 907246	NM_002488.4(NDUFA2):c.-114T>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 906819	NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)	NDUFAF2 (Y34H)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 906500	NM_004553.6(NDUFS6):c.*99G>C	NDUFS6	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 906499	NM_004553.6(NDUFS6):c.*46C>T	NDUFS6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906327	NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)	LOC129993885, NDUFS4 (S26F)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 906252	NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)	NDUFA2, TMCO6 (G9V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 905876	NM_002495.4(NDUFS4):c.*88T>A	NDUFS4	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 905819	NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 905818	NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)	LOC129993885, NDUFS4 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 904500	NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)	NDUFAF2	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 904123	NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)	NDUFS6, MRPL36 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 903998	NM_002495.4(NDUFS4):c.350+6T>C	NDUFS4	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 902657	NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr)	NDUFAF3 (N64T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902656	NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile)	LOC129936729, NDUFAF3 (S9I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 902655	NM_199069.1(NDUFAF3):c.-143A>T	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901752	NM_199069.1(NDUFAF3):c.-503G>C	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901751	NM_199069.1(NDUFAF3):c.-503G>A	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901274	NM_199069.2(NDUFAF3):c.*243G>A	NDUFAF3	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 901273	NM_199069.2(NDUFAF3):c.*98A>G	NDUFAF3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 901272	NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser)	NDUFAF3 (L122S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 900110	NM_199069.2(NDUFAF3):c.258G>A (p.Val86=)	NDUFAF3	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 900109	NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)	LOC129936731, NDUFAF3 (L19F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900108	NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)	LOC129936731, NDUFAF3 (M12L +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 899081	NM_005006.7(NDUFS1):c.63T>C (p.Val21=)	NDUFS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899080	NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)	NDUFS1 (T24A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 899079	NM_005006.7(NDUFS1):c.261+6T>C	NDUFS1	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GUncertain significance
Select item 898934	NM_005006.7(NDUFS1):c.*53T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 898933	NM_005006.7(NDUFS1):c.*130A>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 898873	NM_005006.7(NDUFS1):c.*864G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance

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