Related gene-specific medical variations for Gene (Select 548593) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646382	NM_001014999.3(SLX1A):c.756G>A (p.Gln252=)	SLX1A, SLX1A-SULT1A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2646381	NM_001014999.3(SLX1A):c.738C>T (p.Asp246=)	SLX1A, SLX1A-SULT1A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2411110	NM_001014999.3(SLX1A):c.670G>A (p.Glu224Lys)	SLX1A-SULT1A3, SLX1A (E110K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380212	NM_001014999.3(SLX1A):c.199C>G (p.Leu67Val)	SLX1A, SLX1A-SULT1A3 (L67V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363815	NM_001014999.3(SLX1A):c.358G>A (p.Ala120Thr)	SLX1A-SULT1A3, SLX1A (A120T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357024	NM_001014999.3(SLX1A):c.278G>T (p.Arg93Leu)	SLX1A, SLX1A-SULT1A3 (R93L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355080	NM_001014999.3(SLX1A):c.413G>A (p.Arg138His)	SLX1A, SLX1A-SULT1A3 (R138H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347701	NM_001014999.3(SLX1A):c.305G>A (p.Arg102Gln)	SLX1A, SLX1A-SULT1A3 (R102Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance