"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SH3BP2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1158871	NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 999698	NM_001122681.2(SH3BP2):c.428+1G>C	SH3BP2	Single nucleotide variant (splice donor variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 574029	NM_001122681.2(SH3BP2):c.724del (p.His242fs)	SH3BP2 (H270fs +2 more)	Deletion (frameshift variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 933744	NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro)	SH3BP2 (S282P +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 525203	NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GBenign/Likely benign
Select item 1433159	NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer)	SH3BP2	Microsatellite (nonsense)	Fibrous dysplasia of jaw	GUncertain significance
Select item 863669	NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr)	SH3BP2 (P418T +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GPathogenic/Likely pathogenic
Select item 348594	NM_001122681.2(SH3BP2):c.1549-12C>A	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GBenign/Likely benign
Select item 639593	NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp)	SH3BP2 (R609W +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 525208	NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp)	SH3BP2	Single nucleotide variant (stop lost)	Fibrous dysplasia of jaw	GBenign/Likely benign