Related gene-specific medical variations for Gene (Select 135293) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308025	NM_001010853.3(PM20D2):c.7C>T (p.Pro3Ser)	LOC129996818, PM20D2 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308023	NM_001010853.3(PM20D2):c.346G>T (p.Ala116Ser)	LOC129996818, PM20D2 (A116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308020	NM_001010853.3(PM20D2):c.53C>T (p.Ser18Phe)	LOC129996818, PM20D2 (S18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308019	NM_001010853.3(PM20D2):c.331C>G (p.Leu111Val)	LOC129996818, PM20D2 (L111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215785	NM_001010853.3(PM20D2):c.76C>T (p.Arg26Cys)	LOC129996818, PM20D2 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215782	NM_001010853.3(PM20D2):c.431T>C (p.Leu144Ser)	LOC129996818, PM20D2 (L144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215781	NM_001010853.3(PM20D2):c.400G>T (p.Ala134Ser)	LOC129996818, PM20D2 (A134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215780	NM_001010853.3(PM20D2):c.388G>T (p.Ala130Ser)	LOC129996818, PM20D2 (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215779	NM_001010853.3(PM20D2):c.257C>G (p.Ala86Gly)	LOC129996818, PM20D2 (A86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215778	NM_001010853.3(PM20D2):c.151C>G (p.Leu51Val)	LOC129996818, PM20D2 (L51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170257	NM_080743.5(SRSF12):c.746A>T (p.His249Leu)	PM20D2, SRSF12 (H249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170255	NM_080743.5(SRSF12):c.458G>A (p.Arg153His)	PM20D2, SRSF12 (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612908	NM_001010853.3(PM20D2):c.457C>A (p.Pro153Thr)	LOC129996818, PM20D2 (P153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559334	NM_080743.5(SRSF12):c.739C>T (p.Arg247Trp)	PM20D2, SRSF12 (R247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559320	NM_001010853.3(PM20D2):c.29A>C (p.Glu10Ala)	LOC129996818, PM20D2 (E10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540841	NM_080743.5(SRSF12):c.638A>G (p.His213Arg)	PM20D2, SRSF12 (H118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464625	NM_080743.5(SRSF12):c.79C>T (p.Arg27Cys)	PM20D2, SRSF12 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409761	NM_001010853.3(PM20D2):c.26T>C (p.Val9Ala)	LOC129996818, PM20D2 (V9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406528	NM_001010853.3(PM20D2):c.457C>T (p.Pro153Ser)	LOC129996818, PM20D2 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404702	NM_001010853.3(PM20D2):c.289C>G (p.Arg97Gly)	LOC129996818, PM20D2 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402915	NM_001010853.3(PM20D2):c.296C>G (p.Pro99Arg)	LOC129996818, PM20D2 (P99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390048	NM_001010853.3(PM20D2):c.460G>T (p.Val154Leu)	LOC129996818, PM20D2 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388281	NM_001010853.3(PM20D2):c.152T>A (p.Leu51Gln)	LOC129996818, PM20D2 (L51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380822	NM_080743.5(SRSF12):c.425A>C (p.His142Pro)	PM20D2, SRSF12 (H47P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357018	NM_001010853.3(PM20D2):c.361G>C (p.Gly121Arg)	LOC129996818, PM20D2 (G121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323399	NM_080743.5(SRSF12):c.479G>A (p.Arg160Gln)	PM20D2, SRSF12 (R160Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314128	NM_001010853.3(PM20D2):c.56A>T (p.Glu19Val)	LOC129996818, PM20D2 (E19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313772	NM_001010853.3(PM20D2):c.214G>A (p.Ala72Thr)	LOC129996818, PM20D2 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301000	NM_080743.5(SRSF12):c.602A>G (p.Gln201Arg)	PM20D2, SRSF12 (Q106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294427	NM_001010853.3(PM20D2):c.331C>T (p.Leu111Phe)	LOC129996818, PM20D2 (L111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292117	NM_080743.5(SRSF12):c.348C>A (p.Ser116Arg)	PM20D2, SRSF12 (S116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208412	NM_080743.5(SRSF12):c.767G>A (p.Arg256His)	PM20D2, SRSF12 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 32