C1855305[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325065	NM_001017995.3(SH3PXD2B):c.567G>A (p.Trp189Ter)	SH3PXD2B (W189*)	Single nucleotide variant (nonsense)	Frank-Ter Haar syndrome	GLikely pathogenic
Select item 190	NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)	SH3PXD2B (R43W)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome	GLikely pathogenic