Related gene-specific medical variations for Gene (Select 1903) - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2245938	NM_005226.4(S1PR3):c.-148+196C>T	S1PR3, C9orf47 (T152I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2235353	NM_005226.4(S1PR3):c.-226G>A	S1PR3, C9orf47 (A113T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234577	NM_005226.4(S1PR3):c.-148+289A>G	S1PR3, C9orf47 (N183S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance

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