ClinVar for MedGen (Select 116012) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549845	NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	EXOSC9 (L14P)	Single nucleotide variant (missense variant)	Cerebral atrophy +2 more	GPathogenic/Likely pathogenic
Select item 523554	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	DGUOK, LOC129934096 (P22L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +8 more	GUncertain significance
Select item 523553	NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)	DGUOK (G93E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +7 more	GUncertain significance
Select item 523513	NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)	SETBP1 (G872R)	Single nucleotide variant (missense variant)	Atrial septal defect +7 more	GLikely pathogenic
Select item 373927	NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)	DNMT1 (F906L +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +6 more	GUncertain significance
Select item 242890	NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)	MLLT1 (R473Q)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GLikely pathogenic
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	PMM2-related condition +2 more	GPathogenic
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	PMM2-related condition +4 more	GPathogenic/Likely pathogenic