C1838979[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 214702	NM_004544.4(NDUFA10):c.1000-5del	NDUFA10	Deletion (intron variant)	Mitochondrial complex I deficiency +3 more	GBenign/Likely benign
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 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 358272	NM_014165.4(NDUFAF4):c.241-18dup	NDUFAF4	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
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 209179	NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)	NUBPL (L104P +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +3 more	GPathogenic/Likely pathogenic
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 214874	NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)	NUBPL (V182A +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 50317	NM_025152.3(NUBPL):c.815-27T>C	NUBPL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 559166	NM_024120.5(NDUFAF5):c.222+8C>G	NDUFAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 36974	NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)	LOC130068621, NDUFA1 (G32R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign