ClinVar for MedGen (Select 1745691) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1895460	NM_001171155.2(PET100):c.115-3C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 1695740	NM_001171155.2(PET100):c.200G>A (p.Arg67His)	PET100, STXBP2 (R67H)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GUncertain significance
Select item 1686017	NM_001171155.2(PET100):c.1A>G (p.Met1Val)	STXBP2, PET100 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 1436166	NM_001171155.2(PET100):c.138+3A>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1368798	NM_001171155.2(PET100):c.184GAG[1] (p.Glu63del)	PET100, STXBP2 (E63del)	Microsatellite (inframe_deletion +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GUncertain significance
Select item 1218913	NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)	PET100, STXBP2 (N25S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GConflicting classifications of pathogenicity
Select item 517815	NM_001171155.2(PET100):c.139-11_139-9del	PET100, STXBP2	Deletion (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 12 +2 more	GLikely benign
Select item 128250	NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)	PET100, STXBP2 (Q48*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 125441	NM_001171155.2(PET100):c.3G>C (p.Met1Ile)	PET100, STXBP2 (M1I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GPathogenic