"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "FASTKD2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137293	NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)	FASTKD2 (S10T)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 333800	NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn)	FASTKD2 (S15N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3379415	NM_001136193.2(FASTKD2):c.53A>G (p.Asn18Ser)	FASTKD2 (N18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376842	NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)	FASTKD2 (K50R)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3380961	NM_001136193.2(FASTKD2):c.503del (p.Asp168fs)	FASTKD2 (D168fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 333802	NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val)	FASTKD2 (A176V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3379416	NM_001136193.2(FASTKD2):c.583C>G (p.Leu195Val)	FASTKD2 (L195V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390897	NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 333806	NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)	FASTKD2 (S593L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GConflicting classifications of pathogenicity
Select item 333808	NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)	FASTKD2 (N673S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity