"Genome-Nilou Lab"[submitter] AND "SH3PXD2B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1244919	NM_001017995.3(SH3PXD2B):c.1013-27A>G	SH3PXD2B	Single nucleotide variant (intron variant)	Frank-Ter Haar syndrome +1 more	GBenign
Select item 903986	NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu)	SH3PXD2B (P329L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 352820	NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln)	SH3PXD2B (P295Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 257058	NM_001017995.3(SH3PXD2B):c.563-11T>C	SH3PXD2B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 352822	NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 257056	NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

ClinVar