Related gene-specific medical variations for Gene (Select 51155) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287257	NM_016185.4(JPT1):c.263C>T (p.Ser88Phe)	JPT1, LOC126862639 (S42F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112517	NM_016185.4(JPT1):c.292C>A (p.Leu98Met)	JPT1, LOC126862639 (L52M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112516	NM_016185.4(JPT1):c.277G>A (p.Gly93Arg)	JPT1, LOC126862639 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112515	NM_016185.4(JPT1):c.269C>G (p.Ala90Gly)	JPT1, LOC126862639 (A44G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112513	NM_016185.4(JPT1):c.211A>G (p.Ser71Gly)	JPT1, LOC126862639 (S25G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537616	NM_016185.4(JPT1):c.140T>C (p.Met47Thr)	JPT1, LOC126862639 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525617	NM_016185.4(JPT1):c.65G>A (p.Arg22Gln)	JPT1, LOC126862639 (R22Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458595	NM_016185.4(JPT1):c.188C>T (p.Ala63Val)	JPT1, LOC126862639 (A63V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance