ClinVar (all) for Orgtrack (Select 508616) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687837	NM_000396.4(CTSK):c.150G>A (p.Trp50Ter)	CTSK (W50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1704248	NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)	PPM1D (S421*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1692997	NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG	GNAS	Indel (intron variant)	Pseudohypoparathyroidism type I A	GPathogenic

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