"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SH3BP2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1491643	NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys)	SH3BP2 (R126C +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 663593	NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys)	SH3BP2 (G230C +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 651398	NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu)	SH3BP2 (P238L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163834	NM_001122681.2(SH3BP2):c.866C>A (p.Pro289His)	SH3BP2 (P289H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357762	NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg)	SH3BP2 (P350R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1493854	NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val)	SH3BP2 (A411V +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 657137	NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu)	SH3BP2 (P439L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 660346	NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter)	SH3BP2 (R415* +2 more)	Single nucleotide variant (nonsense)	Fibrous dysplasia of jaw +1 more	GConflicting classifications of pathogenicity
Select item 1057025	NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu)	SH3BP2 (S444L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +2 more	GUncertain significance
Select item 1920159	NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His)	SH3BP2 (Y448H +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 348590	NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)	SH3BP2 (S456L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +2 more	GConflicting classifications of pathogenicity
Select item 571796	NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp)	SH3BP2 (R488W +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GConflicting classifications of pathogenicity