ClinVar for OMIM (Select 193060) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16835	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES (R350P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 16176	NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)	GFAP, LOC130060994 (E362D)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	See cases +6 more	GPathogenic/Likely pathogenic

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