ClinVar for MedGen (Select 374101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577092	NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)	ACAD9, CFAP92 (S479F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 2137167	NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)	NDUFV1 (V236M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1810299	NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val)	NDUFAF7 (A308V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Mitochondrial complex I deficiency	Gnot provided
Select item 1722425	NM_014049.5(ACAD9):c.634-1G>A	ACAD9	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 1479693	NM_014049.5(ACAD9):c.1674_1692+34del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +2 more	GLikely pathogenic
Select item 1414680	NM_014049.5(ACAD9):c.1029+1dup	ACAD9	Duplication (splice donor variant)	Mitochondrial complex I deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1107936	NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=)	NDUFAF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 990383	NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg)	NDUFS6 (Q118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990382	NM_004553.6(NDUFS6):c.306C>T (p.Asn102=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 972920	NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)	NDUFV1	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 873018	NM_004548.3(NDUFB10):c.131-442G>C	NDUFB10	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 870074	NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr)	ELAC2 (S511Y +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +2 more	GUncertain significance
Select item 870073	NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter)	ELAC2 (Q483* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17 +2 more	GConflicting classifications of pathogenicity
Select item 848539	NM_014049.5(ACAD9):c.151-1_151del	ACAD9	Deletion (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GLikely pathogenic
Select item 794542	NM_004553.6(NDUFS6):c.336C>T (p.Cys112=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770668	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5]	NDUFAF5	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 766696	NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile)	NDUFAF5 (V138I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 765370	NM_004553.6(NDUFS6):c.165G>T (p.Arg55=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764098	NM_024120.5(NDUFAF5):c.263+8G>A	NDUFAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756231	NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=)	NDUFAF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755427	NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=)	NDUFAF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755426	NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 753670	NM_004553.6(NDUFS6):c.102G>A (p.Pro34=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749590	NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 733899	NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=)	NDUFAF5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 728741	NM_004553.6(NDUFS6):c.67C>T (p.Leu23=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728556	NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=)	LOC130065433, NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 727213	NM_004553.6(NDUFS6):c.9G>A (p.Ala3=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726873	NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)	NDUFS6 (L11V)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 722513	NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr)	NDUFAF5 (M251T +3 more)	Single nucleotide variant (missense variant +1 more)	NDUFAF5-related disorder +2 more	GLikely benign
Select item 718435	NM_004553.6(NDUFS6):c.117C>G (p.Val39=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692023	NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln)	NDUFV1 (R119Q +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 634501	NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe)	NDUFAF1 (I301F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 632085	NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs)	NDUFS2 (R166fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 618242	NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)	NDUFAF5, LOC130065433 (R9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 587577	NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)	NDUFS4 (D119H)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 585028	NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)	NDUFV1 (N164S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency	Gnot provided
Select item 562204	NM_025152.3(NUBPL):c.349A>G (p.Met117Val)	NUBPL (M117V +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
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 561062	NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)	NDUFS1 (R417G +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
Select item 559166	NM_024120.5(NDUFAF5):c.222+8C>G	NDUFAF5	Single nucleotide variant (intron variant)	NDUFAF5-related disorder +2 more	GBenign/Likely benign
Select item 557691	NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly)	NDUFS4	Duplication (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 548593	NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)	FOXRED1 (P190S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 548567	NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile)	NDUFV1 (N244I +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 523006	NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)	NDUFS3 (R199Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522718	NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala)	FOXRED1 (G211A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522638	NM_014049.5(ACAD9):c.959-3C>G	ACAD9	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 496918	NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	LOC126861242, NDUFV1 (R386H +1 more)	Single nucleotide variant (missense variant)	NDUFV1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 446176	NM_001270888.1(SLC25A10):c.[684C>T;790-37G>A]	SLC25A10 (P192S)	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 446175	NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)	SLC25A10 (K102*)	Single nucleotide variant (nonsense)	Mitochondrial complex I deficiency +1 more	GLikely pathogenic
Select item 431452	NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser)	LOC126861242, NDUFV1 (F373S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GLikely pathogenic
Select item 424761	NM_014049.4(ACAD9):c.[1846C>T];[359delT]			Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 424751	NM_014049.4(ACAD9):c.[1A>G];[796C>T]			Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 424750	NM_014049.4(ACAD9):c.[1552C>T];[1564-6_1569del]			Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 424749	NM_014049.4(ACAD9):c.[1237G>A];[1552C>T]			Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 424746	NM_014049.4(ACAD9):c.[1594C>T];[359delT]			Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 424744	NM_014049.4(ACAD9):c.[1030-1G>T];[1249C>T]			Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 418381	NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)	NDUFS3 (R125H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 383186	NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His)	NDUFAF5 (R82H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382789	NM_004553.6(NDUFS6):c.96C>A (p.Val32=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 377597	NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser)	NDUFAF5 (N150S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 372745	NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)	FOXRED1 (R136W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 372715	NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	NDUFV1 (S56P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +5 more	GConflicting classifications of pathogenicity
Select item 372253	NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	NDUFAF5 (G250V +3 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GPathogenic/Likely pathogenic
Select item 369253	NM_021074.4(NDUFV2):c.*77C>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GBenign/Likely benign
Select item 358276	NM_014165.4(NDUFAF4):c.-32del	NDUFAF4	Deletion (5 prime UTR variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 358272	NM_014165.4(NDUFAF4):c.241-18dup	NDUFAF4	Duplication (intron variant)	Mitochondrial complex I deficiency +2 more	GBenign/Likely benign
Select item 358257	NM_014165.4(NDUFAF4):c.*1053A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 354032	NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)	ERCC8, NDUFAF2 (D6E)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 354031	NM_174889.5(NDUFAF2):c.-23GC[3]	NDUFAF2	Microsatellite (5 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 354030	NM_174889.4(NDUFAF2):c.-63G>T	NDUFAF2	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 354029	NM_174889.4(NDUFAF2):c.-66G>C	NDUFAF2	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 354028	NM_174889.4(NDUFAF2):c.-91C>T	ERCC8, NDUFAF2	Single nucleotide variant	Cockayne syndrome +3 more	GBenign/Likely benign
Select item 354027	NM_174889.4(NDUFAF2):c.-97A>G	NDUFAF2, ERCC8	Single nucleotide variant	Mitochondrial complex I deficiency +3 more	GBenign
Select item 354026	NM_174889.4(NDUFAF2):c.-110A>C	NDUFAF2	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 353891	NM_002495.4(NDUFS4):c.424+19dup	NDUFS4	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 353890	NM_002495.4(NDUFS4):c.351-11_351-8del	NDUFS4	Deletion (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 353192	NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)	NDUFS6	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 345961	NM_199069.1(NDUFAF3):c.-118G>A	NDUFAF3	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 335207	NM_004544.3(NDUFA10):c.-93G>T	NDUFA10	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335206	NM_004544.3(NDUFA10):c.-92C>T	NDUFA10	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 335205	NM_004544.3(NDUFA10):c.-87A>C	NDUFA10	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 335201	NM_004544.4(NDUFA10):c.749+11C>T	NDUFA10	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 335196	NM_004544.4(NDUFA10):c.*389C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 335177	NM_004544.4(NDUFA10):c.1894_1914delinsGGG	NDUFA10	Indel (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335175	NM_004544.4(NDUFA10):c.1923_1924insA	NDUFA10	Insertion (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 335167	NM_004544.4(NDUFA10):c.*2397A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 333789	NM_005006.7(NDUFS1):c.154-10_154-9del	NDUFS1	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 333788	NM_005006.7(NDUFS1):c.262-15del	NDUFS1	Deletion (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 333787	NM_005006.7(NDUFS1):c.262-15dup	NDUFS1	Duplication (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 333782	NM_005006.7(NDUFS1):c.1393-7del	NDUFS1	Deletion (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333778	NM_005006.7(NDUFS1):c.*93dup	NDUFS1	Duplication (3 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 333765	NM_005006.7(NDUFS1):c.*846del	NDUFS1	Deletion (3 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GLikely benign
Select item 333764	NM_005006.7(NDUFS1):c.*846dup	NDUFS1	Duplication (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 330242	NM_175614.4(NDUFA11):c.-205_-204CT[2]	LOC112552175, NDUFA11	Microsatellite	Mitochondrial complex I deficiency	GUncertain significance
Select item 330233	NM_001193375.3(NDUFA11):c.314-1391GT[4]	NDUFA11	Microsatellite (intron variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 328346	NM_000156.6(GAMT):c.*146A>C	GAMT, NDUFS7	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase +3 more	GBenign/Likely benign
Select item 328345	NM_000156.6(GAMT):c.*151T>C	NDUFS7, GAMT	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign

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