ClinVar (all) for Orgtrack (Select 505594) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424752	NM_000543.4(SMPD1):c.[1343A>G];[1426C>T]			Niemann-Pick disease, type B	GPathogenic
Select item 370130	NM_000152.5(GAA):c.1799G>A (p.Arg600His)	GAA (R600H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +6 more	GPathogenic/Likely pathogenic

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