Related gene-specific medical variations for Gene (Select 6452) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246581	NC_000004.11:g.(?_2822345)_(2826943_?)dup	SH3BP2	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 3161253	NM_001122681.2(SH3BP2):c.-4-8138A>G	LOC106804089, SH3BP2 (S27G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058905	NM_001122681.2(SH3BP2):c.-4-8148C>T	LOC106804089, SH3BP2	Single nucleotide variant (synonymous variant +1 more)	SH3BP2-related disorder	GLikely benign
Select item 2550353	NM_001122681.2(SH3BP2):c.-4-2378G>C	LOC129992069, SH3BP2 (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387323	NM_001122681.2(SH3BP2):c.-4-8168C>T	LOC106804089, SH3BP2 (R17W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236050	NM_001122681.2(SH3BP2):c.-4-2381T>G	LOC129992069, SH3BP2 (S4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1264442	NM_001122681.2(SH3BP2):c.-4-2080G>A	LOC129992070, SH3BP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239506	NM_001122681.2(SH3BP2):c.-4-8193A>G	LOC106804089, SH3BP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 348673	NM_001122681.2(SH3BP2):c.4329_4330del	LOC129992074, SH3BP2	Deletion (3 prime UTR variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 348620	NM_001122681.2(SH3BP2):c.*1679C>T	LOC129992073, SH3BP2	Single nucleotide variant (3 prime UTR variant)	Fibrous dysplasia of jaw	GBenign
Select item 348619	NM_001122681.2(SH3BP2):c.*1656T>C	LOC129992073, SH3BP2	Single nucleotide variant (3 prime UTR variant)	Fibrous dysplasia of jaw +1 more	GBenign
Select item 348618	NM_001122681.2(SH3BP2):c.*1655C>T	SH3BP2, LOC129992073	Single nucleotide variant (3 prime UTR variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 348613	NM_001122681.2(SH3BP2):c.*1361C>G	LOC129992072, SH3BP2	Single nucleotide variant (3 prime UTR variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 348612	NM_001122681.2(SH3BP2):c.*1318T>C	LOC129992072, SH3BP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign