Related gene-specific medical variations for Gene (Select 57109) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313838	NM_020385.4(REXO4):c.49G>A (p.Val17Met)	ADAMTS13, LOC130002905 +1 more (V17M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313837	NM_020385.4(REXO4):c.273C>G (p.Ile91Met)	ADAMTS13, REXO4 (I91M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3313836	NM_020385.4(REXO4):c.164C>T (p.Ala55Val)	ADAMTS13, REXO4 (A55V)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3153316	NM_020385.4(REXO4):c.464A>G (p.Asn155Ser)	ADAMTS13, REXO4 (N62S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153314	NM_020385.4(REXO4):c.352G>A (p.Glu118Lys)	ADAMTS13, REXO4 (E118K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153313	NM_020385.4(REXO4):c.265C>T (p.Leu89Phe)	ADAMTS13, REXO4 (L89F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2553446	NM_020385.4(REXO4):c.137G>T (p.Ser46Ile)	ADAMTS13, REXO4 (S46I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2553052	NM_020385.4(REXO4):c.523G>A (p.Glu175Lys)	ADAMTS13, REXO4 (E175K +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2461759	NM_020385.4(REXO4):c.257A>G (p.Glu86Gly)	ADAMTS13, REXO4 (E86G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2458012	NM_020385.4(REXO4):c.571G>A (p.Glu191Lys)	ADAMTS13, REXO4 (E54K +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2388988	NM_020385.4(REXO4):c.359C>T (p.Pro120Leu)	ADAMTS13, REXO4 (P120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345945	NM_020385.4(REXO4):c.437G>A (p.Arg146His)	ADAMTS13, REXO4 (A87T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273007	NM_020385.4(REXO4):c.93C>G (p.Asn31Lys)	ADAMTS13, REXO4 (N31K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2232632	NM_020385.4(REXO4):c.207C>G (p.Asn69Lys)	ADAMTS13, REXO4 (N69K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2207458	NM_020385.4(REXO4):c.213G>T (p.Lys71Asn)	ADAMTS13, REXO4 (K71N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance