ClinVar for MedGen (Select 1648493) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362737	NM_015965.7(NDUFA13):c.310T>C (p.Trp104Arg)	NDUFA13 (W104R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 28	GUncertain significance
Select item 2672263	NM_015965.7(NDUFA13):c.433T>C (p.Ter145Gln)	NDUFA13	Single nucleotide variant (stop lost)	Mitochondrial complex 1 deficiency, nuclear type 28	GUncertain significance
Select item 2671946	NM_015965.7(NDUFA13):c.94+1G>A	LOC130064074, NDUFA13	Single nucleotide variant (splice donor variant)	Hurthle cell carcinoma of thyroid +1 more	GLikely pathogenic
Select item 2441769	NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)	LOC130064074, NDUFA13 (Y16fs)	Duplication (frameshift variant)	Hurthle cell carcinoma of thyroid +1 more	GLikely pathogenic
Select item 2434082	NM_015965.7(NDUFA13):c.2T>C (p.Met1Thr)	LOC130064074, NDUFA13 (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 28	GUncertain significance
Select item 2069279	NM_015965.7(NDUFA13):c.187G>A (p.Glu63Lys)	NDUFA13 (E63K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 983478	NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)	LOC125371495, NDUFA13 (L36P)	Single nucleotide variant (missense variant)	Lactic acidosis +5 more	GPathogenic
Select item 983476	NM_015965.7(NDUFA13):c.194del (p.Phe65fs)	NDUFA13 (F65fs)	Deletion (frameshift variant)	Lactic acidosis +5 more	GPathogenic
Select item 132643	NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)	LOC125371495, NDUFA13 (R57H)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 28	GLikely pathogenic