ClinVar for MedGen (Select 68579) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 523308	GRCh37/hg19 16q24.3(chr16:89616901-89620368)	SPG7	Copy number loss	Memory impairment +3 more	GLikely pathogenic
Select item 411680	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	SPG7	Deletion (splice acceptor variant)	Inborn genetic diseases +10 more	GPathogenic
Select item 374122	NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)	TYROBP (D32N)	Single nucleotide variant (missense variant +1 more)	Parkinsonian disorder +9 more	GUncertain significance
Select item 98222	NM_001377265.1(MAPT):c.2091+16C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +5 more	GPathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +8 more	GPathogenic/Likely pathogenic

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