Full data view for gene INPPL1

Information The variants shown are described using the NM_001567.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3401G>C r.(?) p.(=) Unknown - likely benign g.71932628G>C g.72221584G>C FOLR2(NM_000803.4):c.590G>C (p.(Ser197Thr)) - FOLR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3332C>T r.(?) p.(=) Unknown - VUS g.71932697C>T g.72221653C>T FOLR2(NM_000803.4):c.659C>T (p.(Ala220Val)) - FOLR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.94_121del r.(?) p.(Glu32Metfs*77) Both (homozygous) - pathogenic (recessive) g.71936122_71936149del g.72225078_72225105del - - INPPL1_000028 ACMG PP4, PVS1, PM2, PP5 PubMed: Silveira 2021, Journal: Silveira 2021 - - Germline - - - - - DNA SEQ-NG-I - - OPSMD Pat42 PubMed: Silveira 2021, Journal: Silveira 2021 - M yes Brazil - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
-/. - c.182+18_182+45del r.(=) p.(=) Unknown - benign g.71936228_71936255del g.72225184_72225211del INPPL1(NM_001567.4):c.182+18_182+45delTCCTTGCGGGCTGGCGTGGACCGGGAGC - FOLR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252G>A r.(?) p.(Ser84=) Unknown - likely benign g.71939397G>A g.72228353G>A INPPL1(NM_001567.3):c.252G>A (p.S84=) - INPPL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268C>T r.(?) p.(Arg90Cys) Unknown - VUS g.71939413C>T - INPPL1(NM_001567.3):c.268C>T (p.(Arg90Cys)) - INPPL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385C>T r.(?) p.(Arg129Trp) Unknown - VUS g.71939530C>T g.72228486C>T INPPL1(NM_001567.3):c.385C>T (p.(Arg129Trp)) - INPPL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.518+14C>G r.(=) p.(=) Unknown - benign g.71939905C>G g.72228861C>G INPPL1(NM_001567.4):c.518+14C>G - INPPL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.626G>A r.(?) p.(Arg209His) Unknown - VUS g.71940241G>A - INPPL1(NM_001567.4):c.626G>A (p.(Arg209His)) - INPPL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637A>G r.(?) p.(Thr213Ala) Unknown - likely benign g.71940252A>G - INPPL1(NM_001567.3):c.637A>G (p.(Thr213Ala)) - INPPL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.753G>A r.(?) p.(=) Unknown - VUS g.71940602G>A - INPPL1(NM_001567.4):c.753G>A (p.(Gln251=)) - INPPL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754-4C>G r.spl? p.? Unknown - likely benign g.71940703C>G - INPPL1(NM_001567.3):c.754-4C>G (p.?) - INPPL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843+7T>C r.(=) p.(=) Unknown - likely benign g.71940803T>C g.72229759T>C INPPL1(NM_001567.3):c.843+7T>C (p.(=)) - INPPL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909G>C r.(?) p.(Lys303Asn) Unknown - likely benign g.71941033G>C g.72229989G>C INPPL1(NM_001567.3):c.909G>C (p.(Lys303Asn)) - INPPL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.987A>G r.(?) p.(Ser329=) Unknown - benign g.71941212A>G g.72230168A>G INPPL1(NM_001567.4):c.987A>G (p.S329=) - INPPL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1029G>A r.(?) p.(Leu343=) Unknown - likely benign g.71941254G>A - INPPL1(NM_001567.4):c.1029G>A (p.L343=) - INPPL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072A>G r.(?) p.(Thr358Ala) Unknown - likely benign g.71941297A>G g.72230253A>G INPPL1(NM_001567.3):c.1072A>G (p.T358A, p.(Thr358Ala)) - INPPL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072A>G r.(?) p.(Thr358Ala) Unknown - VUS g.71941297A>G - INPPL1(NM_001567.3):c.1072A>G (p.T358A, p.(Thr358Ala)) - INPPL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087C>T r.(?) p.(Arg363Cys) Unknown - VUS g.71941312C>T - INPPL1(NM_001567.4):c.1087C>T (p.(Arg363Cys)) - INPPL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1196G>A r.(?) p.(Arg399Gln) Unknown - VUS g.71941511G>A - INPPL1(NM_001567.4):c.1196G>A (p.(Arg399Gln)) - INPPL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198-7C>T r.(=) p.(=) Unknown - likely benign g.71941833C>T - INPPL1(NM_001567.3):c.1198-7C>T (p.(=)) - INPPL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1301-9C>T r.(=) p.(=) Unknown - likely benign g.71942028C>T - INPPL1(NM_001567.4):c.1301-9C>T - INPPL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1368C>T r.(?) p.(Asp456=) Unknown - benign g.71942104C>T g.72231060C>T INPPL1(NM_001567.4):c.1368C>T (p.D456=) - INPPL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1437C>T r.(?) p.(=) Unknown - likely benign g.71942173C>T - INPPL1(NM_001567.4):c.1437C>T (p.(Arg479=)) - INPPL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1497+6G>A r.(=) p.(=) Unknown - likely benign g.71942239G>A - INPPL1(NM_001567.4):c.1497+6G>A - INPPL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1615+3A>G r.spl? p.? Unknown - likely benign g.71942662A>G - INPPL1(NM_001567.4):c.1615+3A>G - INPPL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1636G>A r.(?) p.(Val546Ile) Both (homozygous) - pathogenic (recessive) g.71943304G>A g.72232260G>A - - INPPL1_000026 - PubMed: White 2018 - - Germline - - - - - DNA SEQ - - FTHS, RRS BAB8759/BH9282_1 PubMed: White 2018 patient F yes - - - - - - 1 Johan den Dunnen
-?/. - c.1706C>T r.(?) p.(Thr569Met) Unknown - likely benign g.71943374C>T - INPPL1(NM_001567.3):c.1706C>T (p.(Thr569Met)) - INPPL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1713-16G>A r.(=) p.(=) Unknown - likely benign g.71943654G>A g.72232610G>A INPPL1(NM_001567.4):c.1713-16G>A - INPPL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1713-5C>T r.spl? p.? Unknown - likely benign g.71943665C>T - INPPL1(NM_001567.3):c.1713-5C>T (p.?) - INPPL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1741C>T r.(?) p.(Arg581Trp) Unknown - VUS g.71943698C>T - INPPL1(NM_001567.3):c.1741C>T (p.(Arg581Trp)) - INPPL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1802A>G r.(?) p.(His601Arg) Unknown - VUS g.71943759A>G - INPPL1(NM_001567.4):c.1802A>G (p.(His601Arg)) - INPPL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1893C>A r.(?) p.(Leu631=) Unknown - benign g.71943960C>A g.72232916C>A INPPL1(NM_001567.4):c.1893C>A (p.L631=) - INPPL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1894C>A r.(?) p.(Leu632Ile) Unknown - benign g.71943961C>A g.72232917C>A INPPL1(NM_001567.3):c.1894C>A (p.(Leu632Ile)), INPPL1(NM_001567.4):c.1894C>A (p.L632I) - INPPL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1894C>A r.(?) p.(Leu632Ile) Unknown - likely benign g.71943961C>A g.72232917C>A INPPL1(NM_001567.3):c.1894C>A (p.(Leu632Ile)), INPPL1(NM_001567.4):c.1894C>A (p.L632I) - INPPL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2158C>T r.(?) p.(Pro720Ser) Unknown - VUS g.71944734C>T - INPPL1(NM_001567.3):c.2158C>T (p.P720S) - INPPL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2220A>G r.(?) p.(Ser740=) Unknown - benign g.71945332A>G g.72234288A>G INPPL1(NM_001567.4):c.2220A>G (p.S740=) - INPPL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2327-7A>C r.(=) p.(=) Unknown - likely benign g.71945564A>C g.72234520A>C INPPL1(NM_001567.3):c.2327-7A>C (p.(=)) - INPPL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2414C>T r.(?) p.(Thr805Met) Unknown - VUS g.71945658C>T - INPPL1(NM_001567.3):c.2414C>T (p.(Thr805Met)) - INPPL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2438T>G r.(?) p.(Ile813Ser) Unknown - likely benign g.71946182T>G - INPPL1(NM_001567.4):c.2438T>G (p.(Ile813Ser)) - INPPL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2504-7T>C r.(=) p.(=) Unknown - benign g.71946333T>C g.72235289T>C INPPL1(NM_001567.4):c.2504-7T>C - INPPL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2633G>A r.(?) p.(Arg878His) Unknown - VUS g.71946469G>A - INPPL1(NM_001567.3):c.2633G>A (p.(Arg878His)) - INPPL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2845C>T r.(?) p.(Arg949*) Unknown - pathogenic g.71946996C>T - INPPL1(NM_001567.4):c.2845C>T (p.R949*) - INPPL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2918C>T r.(?) p.(Ala973Val) Unknown - likely benign g.71948206C>T - INPPL1(NM_001567.3):c.2918C>T (p.(Ala973Val)) - INPPL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3238C>T r.(?) p.(Arg1080Cys) Unknown - VUS g.71948526C>T - INPPL1(NM_001567.4):c.3238C>T (p.(Arg1080Cys)) - INPPL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3248C>G r.(?) p.(Ala1083Gly) Unknown - benign g.71948536C>G g.72237492C>G INPPL1(NM_001567.4):c.3248C>G (p.A1083G) - INPPL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3317C>A r.(?) p.(Ala1106Asp) Unknown - likely benign g.71948605C>A g.72237561C>A INPPL1(NM_001567.3):c.3317C>A (p.(Ala1106Asp)) - INPPL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3491G>A r.(?) p.(Arg1164Gln) Unknown - likely benign g.71948779G>A - INPPL1(NM_001567.3):c.3491G>A (p.(Arg1164Gln)) - INPPL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3514C>T r.(?) p.(Arg1172Cys) Unknown - likely benign g.71948802C>T - INPPL1(NM_001567.3):c.3514C>T (p.(Arg1172Cys)) - INPPL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3551_3552+1del r.spl? p.? Unknown - VUS g.71948839_71948841del - INPPL1(NM_001567.3):c.3547_3549del (p.(Glu1183del)) - INPPL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3585G>T r.(?) p.(Gly1195=) Unknown - likely benign g.71949118G>T - INPPL1(NM_001567.3):c.3585G>T (p.G1195=) - INPPL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3651G>C r.(?) p.(Leu1217=) Unknown - likely benign g.71949184G>C g.72238140G>C INPPL1(NM_001567.3):c.3651G>C (p.L1217=) - INPPL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1781_*1796del r.(=) p.(=) Unknown - VUS g.71951178_71951193del - PHOX2A(NM_005169.3):c.455_470del (p.(Ala152GlyfsTer49)) - INPPL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2908G>A r.(=) p.(=) Unknown - likely benign g.71952305G>A - PHOX2A(NM_005169.3):c.246C>T (p.S82=) - INPPL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2935C>T r.(=) p.(=) Unknown - likely benign g.71952332C>T - PHOX2A(NM_005169.3):c.219G>A (p.V73=) - INPPL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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