Related gene-specific medical variations for Gene (Select 6462) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539133	NM_133491.5(SAT2):c.10G>A (p.Val4Met)	SAT2, SHBG (R77H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496414	NM_004860.4(FXR2):c.14C>T (p.Ala5Val)	FXR2, LOC130060165 +1 more (A5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404543	NM_133491.5(SAT2):c.62T>G (p.Ile21Ser)	SAT2, SHBG (D94E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403154	NM_133491.5(SAT2):c.26C>A (p.Ala9Asp)	SAT2, SHBG (A9D)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2392877	NM_133491.5(SAT2):c.472T>G (p.Cys158Gly)	SAT2, SHBG (C124G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307197	NM_133491.5(SAT2):c.411G>A (p.Met137Ile)	SAT2, SHBG (M137I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2279454	NM_133491.5(SAT2):c.334A>C (p.Lys112Gln)	SAT2, SHBG (K112Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257014	NM_133491.5(SAT2):c.147T>A (p.Asn49Lys)	SAT2, SHBG (N128K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222142	NM_004860.4(FXR2):c.10C>G (p.Leu4Val)	FXR2, LOC130060165 +1 more (L4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance