"OMIM"[submitter] AND "SH3BP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7551	NM_001122681.2(SH3BP2):c.1244G>A (p.Arg415Gln)	SH3BP2 (R415Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7550	NM_001122681.2(SH3BP2):c.1244G>C (p.Arg415Pro)	SH3BP2 (R415P +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GPathogenic
Select item 7549	NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His)	SH3BP2 (P418H +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GPathogenic
Select item 7548	NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg)	SH3BP2 (P418R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7547	NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu)	SH3BP2 (P418L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GPathogenic/Likely pathogenic
Select item 7552	NM_001122681.2(SH3BP2):c.1258G>C (p.Gly420Arg)	SH3BP2 (G420R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GPathogenic
Select item 7553	NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu)	SH3BP2 (G420E +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance

ClinVar