C4310794[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326847	NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs)	SPTBN1 (W746fs +1 more)	Deletion (frameshift variant)	Pervasive developmental disorder +1 more	GPathogenic
Select item 620287	NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter)	PIGG (W388* +5 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic
Select item 654965	NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter)	PIGG (Q724* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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ClinVar