ClinVar for MedGen (Select 1801903) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686809	NM_001127178.3(PIGG):c.640C>T (p.His214Tyr)	PIGG (H125Y +1 more)	Single nucleotide variant (missense variant +3 more)	Emm-null phenotype +1 more	GPathogenic
Select item 1686808	NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter)	PIGG (W547* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 1686807	NM_001127178.3(PIGG):c.361-51_383delinsGACTT	PIGG	Indel (splice acceptor variant +2 more)	Emm-null phenotype	GPathogenic
Select item 1686806	NM_001127178.3(PIGG):c.1114+2230_2069+847del	PIGG	Deletion (splice acceptor variant +2 more)	Emm-null phenotype	GPathogenic
Select item 1686805	NM_001127178.3(PIGG):c.155-215_570+216del	PIGG	Deletion (splice acceptor variant +2 more)	Emm-null phenotype	GPathogenic
Select item 646604	NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)	PIGG	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic

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