ClinVar (all) for Orgtrack (Select 507124) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638266	NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro)	CHD7 (L1748P)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 453938	NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)	PTCH2 (P1116L)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance