C2931891[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333781	NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	NDUFS1 (V506I +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 801857	NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)	NDUFS1 (P376L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 138473	NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 333789	NM_005006.7(NDUFS1):c.154-10_154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 334354	NM_001079866.2(BCS1L):c.-50+458T>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GUncertain significance
Select item 136502	NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	BCS1L (D210N +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GBenign/Likely benign
Select item 136503	NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GBenign
Select item 136505	NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GBenign
Select item 214702	NM_004544.4(NDUFA10):c.1000-5del	NDUFA10	Deletion (intron variant)	Mitochondrial complex I deficiency +3 more	GBenign/Likely benign
Select item 129686	NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 138436	NM_004544.4(NDUFA10):c.548-9A>G	NDUFA10	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 129685	NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 290734	NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly)	NDUFA10 (A2G)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 486359	NM_004168.4(SDHA):c.-2A>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GConflicting classifications of pathogenicity
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +9 more	GPathogenic/Likely pathogenic
Select item 224947	NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	SDHA (A45T)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 855207	NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)	SDHA (R195W +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +6 more	GUncertain significance
Select item 472424	NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)	SDHA (P332S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 239660	NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)	SDHA (A660G +2 more)	Single nucleotide variant (missense variant)	Leigh syndrome +5 more	GConflicting classifications of pathogenicity
Select item 129699	NM_002495.4(NDUFS4):c.12G>C (p.Val4=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 214817	NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)	NDUFS4, LOC129993885 (S5P)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 129700	NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 129701	NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)	NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +2 more	GBenign
Select item 129691	NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)	ERCC8, NDUFAF2	Single nucleotide variant (synonymous variant)	Leigh syndrome +4 more	GBenign
Select item 496555	NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)	NDUFAF2 (W74*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 138457	NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)	NDUFAF2	Single nucleotide variant (synonymous variant)	Mitochondrial complex 1 deficiency, nuclear type 10 +4 more	GBenign/Likely benign
Select item 137103	NM_000108.5(DLD):c.34G>A (p.Ala12Thr)	DLD (A12T)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign/Likely benign
Select item 203672	NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	DLD (T34A)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 137092	NM_000108.5(DLD):c.249T>C (p.Val83=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign
Select item 137094	NM_000108.5(DLD):c.439-7T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign/Likely benign
Select item 137095	NM_000108.5(DLD):c.543A>T (p.Ile181=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase complex deficiency +4 more	GConflicting classifications of pathogenicity
Select item 137096	NM_000108.5(DLD):c.684+7G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign
Select item 137098	NM_000108.5(DLD):c.777A>G (p.Lys259=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign
Select item 203681	NM_000108.5(DLD):c.788G>A (p.Arg263His)	DLD (R263H +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 137100	NM_000108.5(DLD):c.1351C>T (p.Leu451=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign
Select item 137101	NM_000108.5(DLD):c.1422A>C (p.Gly474=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency +4 more	GBenign/Likely benign
Select item 559316	NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu)	LOC113788297, NDUFAF6 (P39L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2067649	NM_003172.4(SURF1):c.884G>A (p.Arg295His)	SURF1 (R186H +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1047269	NM_003172.4(SURF1):c.884G>T (p.Arg295Leu)	SURF1 (R186L +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 559280	NM_003172.4(SURF1):c.834-5C>T	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely benign
Select item 526789	NM_003172.4(SURF1):c.808G>A (p.Glu270Lys)	SURF1 (E270K +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 419973	NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)	SURF1 (R192fs +1 more)	Insertion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 139374	NM_003172.4(SURF1):c.573C>G (p.Thr191=)	SURF1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 215225	NM_003172.4(SURF1):c.543C>T (p.Phe181=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 215233	NM_003172.4(SURF1):c.409C>T (p.Arg137Trp)	SURF1 (R137W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4K +3 more	GUncertain significance
Select item 235744	NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser)	SURF1 (Y117S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215231	NM_003172.4(SURF1):c.322G>A (p.Asp108Asn)	SURF1 (D108N)	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +4 more	GUncertain significance
Select item 215237	NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)	SURF1	Indel (5 prime UTR variant +1 more)	SURF1-related disorder +4 more	GPathogenic
Select item 139373	NM_003172.4(SURF1):c.280T>C (p.Leu94=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1509236	NM_003172.4(SURF1):c.251G>A (p.Arg84Gln)	SURF1 (R84Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1359503	NM_003172.4(SURF1):c.240+5A>T	SURF1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 365530	NM_003172.4(SURF1):c.211G>C (p.Val71Leu)	SURF1 (V71L)	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 139379	NM_003172.4(SURF1):c.54+10G>A	LOC130002899, SURF1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128836	NM_078470.6(COX15):c.*1126T>C	COX15 (F374L)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +2 more	GBenign
Select item 298412	NM_078470.6(COX15):c.*1122C>G	COX15 (F372L)	Single nucleotide variant (3 prime UTR variant +3 more)	Leigh syndrome +1 more	GUncertain significance
Select item 214842	NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)	NDUFV1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 138501	NM_007103.4(NDUFV1):c.549C>G (p.Gly183=)	NDUFV1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign
Select item 632170	NM_007103.4(NDUFV1):c.753_756del (p.Pro252fs)	NDUFV1 (P252fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138502	NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=)	NDUFV1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign
Select item 305753	NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)	NDUFV1 (R359C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305755	NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile)	NDUFV1, LOC126861242 (M396I +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 214836	NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)	NDUFS8 (R2C)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 378258	NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	NDUFS8	Single nucleotide variant (synonymous variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic
Select item 321791	NM_004589.4(SCO1):c.868A>G (p.Ile290Val)	SCO1 (I290V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139078	NM_004589.4(SCO1):c.16C>G (p.Leu6Val)	LOC112529895, SCO1 (L6V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 137005	NM_001303.4(COX10):c.33C>T (p.Arg11=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 137004	NM_001303.4(COX10):c.83C>T (p.Thr28Ile)	COX10 (T28I)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 137006	NM_001303.4(COX10):c.184A>T (p.Thr62Ser)	COX10 (T62S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 137007	NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)	COX10 (Y97C)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 137009	NM_001303.4(COX10):c.476G>A (p.Arg159Gln)	COX10 (R159Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 137003	NM_001303.4(COX10):c.504G>A (p.Leu168=)	COX10	Single nucleotide variant (synonymous variant)	Leigh syndrome +3 more	GBenign
Select item 137010	NM_001303.4(COX10):c.682C>T (p.Arg228Cys)	COX10 (R228C)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136999	NM_001303.4(COX10):c.929-7C>T	COX10	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137000	NM_001303.4(COX10):c.981C>T (p.Asn327=)	COX10	Single nucleotide variant (synonymous variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 377357	NM_001303.4(COX10):c.1027T>C (p.Cys343Arg)	COX10 (C343R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 129702	NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)	NDUFS7 (P23L)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GBenign
Select item 138498	NM_024407.5(NDUFS7):c.408+10G>T	NDUFS7	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign
Select item 21068	NM_000156.6(GAMT):c.626C>T (p.Thr209Met)	GAMT, NDUFS7 (T209M)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 129130	NM_000156.6(GAMT):c.571-6G>A	GAMT, NDUFS7	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome +5 more	GBenign/Likely benign
Select item 214198	NM_024120.5(NDUFAF5):c.222+8_222+15del	NDUFAF5	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 16 +1 more	GBenign
Select item 136597	NM_024120.5(NDUFAF5):c.486T>C (p.His162=)	NDUFAF5	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 129694	NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=)	NDUFAF5	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 87