ClinVar for MedGen (Select 52431) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802489	NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)	SPTLC1 (L39del)	Microsatellite (inframe_deletion +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A +7 more	GPathogenic/Likely pathogenic
Select item 523439	NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala)	DYNC1H1 (D4433A)	Single nucleotide variant (missense variant)	Impaired vibration sensation in the lower limbs +6 more	GUncertain significance
Select item 523306	NC_012920.1:m.14477A>G	MT-ND6	Single nucleotide variant	Cognitive impairment +6 more	GUncertain significance
Select item 374191	NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)	DMD (W546* +3 more)	Single nucleotide variant (nonsense)	Calf muscle hypertrophy +7 more	GPathogenic
Select item 29679	NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)	CYP24A1 (R396W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	Memory impairment +8 more	GPathogenic/Likely pathogenic

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