Related gene-specific medical variations for Gene (Select 127540) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106268	NM_001379301.1(HMGB4):c.463G>A (p.Glu155Lys)	CSMD2, HMGB4 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106267	NM_001379301.1(HMGB4):c.428A>T (p.Glu143Val)	CSMD2, HMGB4 (E69V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106266	NM_001379301.1(HMGB4):c.347C>T (p.Pro116Leu)	CSMD2, HMGB4 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106265	NM_001379301.1(HMGB4):c.179A>G (p.Tyr60Cys)	CSMD2, HMGB4 (Y60C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2590644	NM_001379301.1(HMGB4):c.530G>C (p.Arg177Pro)	CSMD2, HMGB4 (R103P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388433	NM_001379301.1(HMGB4):c.140A>T (p.Glu47Val)	CSMD2, HMGB4 (E47V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312891	NM_001379301.1(HMGB4):c.354G>T (p.Trp118Cys)	CSMD2, HMGB4 (W44C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271975	NM_001379301.1(HMGB4):c.125C>T (p.Ser42Phe)	CSMD2, HMGB4 (S42F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229065	NM_001379301.1(HMGB4):c.188T>C (p.Leu63Pro)	CSMD2, HMGB4 (L63P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance