Full data view for gene NCAPH2

Information The variants shown are described using the NM_152299.3 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
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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.-3763823_*704982del r.0? p.0? Unknown - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-3666A>G r.(?) p.(=) Unknown - VUS g.50943101A>G g.50504672A>G LMF2(NM_033200.2):c.1493T>C (p.(Val498Ala)) - LMF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1366C>A r.(?) p.(=) Unknown - likely benign g.50945401C>A g.50506972C>A LMF2(NM_033200.3):c.158G>T (p.R53L) - LMF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18G>A r.(?) p.(Ala6=) Unknown - likely benign g.50946784G>A - NCAPH2(NM_001185011.1):c.18G>A (p.A6=) - LMF2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268C>T r.(?) p.(Arg90Trp) Unknown - likely benign g.50956007C>T - NCAPH2(NM_152299.3):c.268C>T (p.(Arg90Trp)) - NCAPH2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.269G>A r.(?) p.(Arg90Gln) Unknown - likely benign g.50956008G>A - NCAPH2(NM_001185011.1):c.269G>A (p.R90Q) - NCAPH2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.272C>T r.(?) p.(Ala91Val) Unknown - likely benign g.50956011C>T - NCAPH2(NM_001185011.1):c.272C>T (p.A91V) - NCAPH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1022C>G r.(?) p.(Pro341Arg) Unknown - likely benign g.50960191C>G - NCAPH2(NM_152299.3):c.1022C>G (p.(Pro341Arg)) - NCAPH2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*261G>A r.(=) p.(=) Unknown - benign g.50962065G>A - SCO2(NM_005138.2):c.776C>T (p.(Ala259Val)) - NCAPH2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*271G>A r.(=) p.(=) Unknown - VUS g.50962075G>A g.50523646G>A SCO2(NM_001169109.1):c.766C>T (p.R256W) - NCAPH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*273C>T r.(=) p.(=) Unknown - VUS g.50962077C>T - SCO2(NM_001169109.1):c.764G>A (p.(Arg255Gln)) - NCAPH2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*274G>T r.(=) p.(=) Unknown - likely benign g.50962078G>T g.50523649G>T NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=) - NCAPH2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*274G>T r.(=) p.(=) Unknown - likely benign g.50962078G>T g.50523649G>T NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=) - NCAPH2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*274G>T r.(=) p.(=) Unknown - likely benign g.50962078G>T g.50523649G>T NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=) - NCAPH2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*299C>G r.(=) p.(=) Unknown - likely benign g.50962103C>G g.50523674C>G SCO2(NM_001169109.2):c.738G>C (p.S246=) - NCAPH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*313C>T r.(=) p.(=) Unknown - VUS g.50962117C>T - SCO2(NM_005138.3):c.724G>A (p.(Gly242Ser)) - NCAPH2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*351T>C r.(=) p.(=) Unknown - VUS g.50962155T>C - SCO2(NM_005138.2):c.686A>G (p.(Tyr229Cys)) - NCAPH2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*404T>G r.(=) p.(=) Unknown - benign g.50962208T>G g.50523779T>G NCAPH2(NM_001185011.2):c.*404T>G, SCO2(NM_001169109.2):c.633A>C (p.A211=) - NCAPH2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*404T>G r.(=) p.(=) Unknown - benign g.50962208T>G g.50523779T>G NCAPH2(NM_001185011.2):c.*404T>G, SCO2(NM_001169109.2):c.633A>C (p.A211=) - NCAPH2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*455G>A r.(=) p.(=) Unknown - benign g.50962259G>A g.50523830G>A NCAPH2(NM_001185011.2):c.*455G>A, SCO2(NM_001169109.2):c.582C>T (p.S194=) - NCAPH2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*460C>T r.(=) p.(=) Unknown - pathogenic g.50962264C>T - - - NCAPH2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*461G>A r.(=) p.(=) Unknown - likely benign g.50962265G>A - SCO2(NM_001169109.1):c.576C>T (p.T192=) - NCAPH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*497G>A r.(=) p.(=) Unknown - likely benign g.50962301G>A - SCO2(NM_001169109.1):c.540C>T (p.(Tyr180=)) - NCAPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*501C>T r.(=) p.(=) Unknown - VUS g.50962305C>T g.50523876C>T SCO2(NM_001169109.1):c.536G>A (p.(Arg179His)) - NCAPH2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*525C>T r.(=) p.(=) Unknown - VUS g.50962329C>T - SCO2(NM_001169109.1):c.512G>A (p.(Arg171Gln)) - NCAPH2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*526G>A r.(=) p.(=) Unknown - VUS g.50962330G>A - SCO2(NM_001169109.1):c.511C>T (p.R171W) - NCAPH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*526G>A r.(=) p.(=) Unknown - likely pathogenic g.50962330G>A - SCO2(NM_001169109.1):c.511C>T (p.R171W) - NCAPH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*527C>G r.(=) p.(=) Unknown - likely benign g.50962331C>G g.50523902C>G SCO2(NM_001169109.1):c.510G>C (p.E170D) - NCAPH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*527C>G r.(=) p.(=) Unknown - VUS g.50962331C>G - SCO2(NM_001169109.1):c.510G>C (p.E170D) - NCAPH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*537A>C r.(=) p.(=) Unknown - VUS g.50962341A>C - SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G) - NCAPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*537A>C r.(=) p.(=) Unknown - VUS g.50962341A>C - SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G) - NCAPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*537A>C r.(=) p.(=) Unknown - VUS g.50962341A>C - SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G) - NCAPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*619C>T r.(=) p.(=) Unknown - pathogenic g.50962423C>T g.50523994C>T SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K) - NCAPH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*619C>T r.(=) p.(=) Unknown - pathogenic g.50962423C>T g.50523994C>T SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K) - NCAPH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*619C>T r.(=) p.(=) Unknown - pathogenic g.50962423C>T g.50523994C>T SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K) - NCAPH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*619C>T r.(=) p.(=) Both (homozygous) - pathogenic g.50962423C>T g.50523994C>T - - NCAPH2_000009 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat54 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.*619C>T r.(=) p.(=) Parent #1 - pathogenic g.50962423C>T g.50523994C>T - - NCAPH2_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315511 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.*630_*641dup r.(=) p.(=) Unknown - VUS g.50962434_50962445dup - SCO2(NM_001169109.1):c.402_413dupTGACATCTGCCC (p.I136_D139dup) - NCAPH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*631_*642del r.(=) p.(=) Unknown - VUS g.50962435_50962446del - - - NCAPH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*658A>G r.(=) p.(=) Unknown - VUS g.50962462A>G - SCO2(NM_005138.3):c.379T>C (p.Y127H) - NCAPH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*710G>A r.(=) p.(=) Unknown - likely benign g.50962514G>A - SCO2(NM_001169109.1):c.327C>T (p.(His109=)) - NCAPH2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*793T>C r.(=) p.(=) Unknown - VUS g.50962597T>C - SCO2(NM_001169109.1):c.244A>G (p.(Lys82Glu)) - NCAPH2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*801C>G r.(=) p.(=) Unknown - likely benign g.50962605C>G g.50524176C>G SCO2(NM_001169109.2):c.236G>C (p.R79T) - NCAPH2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*804_*823dup r.(=) p.(=) Unknown - VUS g.50962608_50962627dup - SCO2(NM_005138.3):c.215_234dup (p.(Arg79Valfs*7)) - NCAPH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*836G>A r.(=) p.(=) Unknown - likely benign g.50962640G>A g.50524211G>A SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=) - NCAPH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*836G>A r.(=) p.(=) Unknown - likely benign g.50962640G>A g.50524211G>A SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=) - NCAPH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*836G>A r.(=) p.(=) Unknown - likely benign g.50962640G>A g.50524211G>A SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=) - NCAPH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*836G>A r.(=) p.(=) Unknown - likely benign g.50962640G>A - SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=) - NCAPH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*842G>C r.(=) p.(=) Unknown - likely benign g.50962646G>C g.50524217G>C SCO2(NM_001169109.1):c.195C>G (p.G65=) - NCAPH2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*858C>T r.(=) p.(=) Unknown - VUS g.50962662C>T - SCO2(NM_005138.3):c.179G>A (p.(Arg60Gln)) - NCAPH2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*859G>A r.(=) p.(=) Unknown - VUS g.50962663G>A g.50524234G>A SCO2(NM_001169109.1):c.178C>T (p.R60W) - NCAPH2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*895C>T r.(=) p.(=) Unknown - VUS g.50962699C>T - SCO2(NM_001169109.1):c.142G>A (p.G48R) - NCAPH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*978C>G r.(=) p.(=) Unknown - benign g.50962782C>G g.50524353C>G NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P) - NCAPH2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*978C>G r.(=) p.(=) Unknown - benign g.50962782C>G g.50524353C>G NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P) - NCAPH2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1033G>C r.(=) p.(=) Unknown - VUS g.50962837G>C g.50524408G>C SCO2(NM_001169109.1):c.4C>G (p.(Leu2Val)) - NCAPH2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1050C>T r.(=) p.(=) Unknown - VUS g.50962854C>T - SCO2(NM_005138.2):c.-13-1G>A (p.?) - NCAPH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2418G>C r.(=) p.(=) Unknown - VUS g.50964222G>C - TYMP(NM_001113755.2):c.1426C>G (p.(Leu476Val)) - NCAPH2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2432G>A r.(=) p.(=) Unknown - benign g.50964236G>A g.50525807G>A SCO2(NM_001169109.1):c.-14+439C>T, SCO2(NM_001169109.2):c.-14+439C>T, TYMP(NM_001953.5):c.1412C>T (p.S471L) - SCO2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2432G>A r.(=) p.(=) Unknown - likely benign g.50964236G>A - SCO2(NM_001169109.1):c.-14+439C>T, SCO2(NM_001169109.2):c.-14+439C>T, TYMP(NM_001953.5):c.1412C>T (p.S471L) - SCO2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2451C>T r.(=) p.(=) Unknown - benign g.50964255C>T g.50525826C>T SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr)) - SCO2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2451C>T r.(=) p.(=) Unknown - benign g.50964255C>T g.50525826C>T SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr)) - SCO2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2451C>T r.(=) p.(=) Unknown - likely benign g.50964255C>T - SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr)) - SCO2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2631C>T r.(=) p.(=) Unknown - VUS g.50964435C>T g.50526006C>T TYMP(NM_001257988.1):c.1295G>A (p.(Arg432His)) - SCO2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2636C>T r.(=) p.(=) Unknown - likely benign g.50964440C>T - TYMP(NM_001113756.2):c.1290G>A (p.R430=) - NCAPH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2642A>T r.(=) p.(=) Unknown - benign g.50964446A>T g.50526017A>T - - TYMP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2750G>A r.(=) p.(=) Unknown - likely benign g.50964554G>A - TYMP(NM_001113755.2):c.1176C>T (p.(Val392=)) - NCAPH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2792C>T r.(=) p.(=) Unknown - likely benign g.50964596C>T - TYMP(NM_001257988.1):c.1160-26G>A (p.(=)) - NCAPH2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2795G>C r.(=) p.(=) Unknown - likely benign g.50964599G>C g.50526170G>C TYMP(NM_001113755.2):c.1160-29C>G (p.(=)) - SCO2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2871C>T r.(=) p.(=) Unknown - pathogenic g.50964675C>T - TYMP(NM_001953.5):c.1159G>A (p.G387S) - NCAPH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2895_*2897del r.(=) p.(=) Unknown - VUS g.50964699_50964701del - TYMP(NM_001113755.2):c.1138_1140del (p.(Glu380del)) - NCAPH2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2921T>C r.(=) p.(=) Unknown - VUS g.50964725T>C - TYMP(NM_001113755.2):c.1109A>G (p.(Gln370Arg)) - NCAPH2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2956T>C r.(=) p.(=) Unknown - likely benign g.50964760T>C - TYMP(NM_001113755.2):c.1074A>G (p.(Arg358=)) - NCAPH2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3055C>T r.(=) p.(=) Unknown - likely benign g.50964859C>T - TYMP(NM_001257988.1):c.975G>A (p.(=)) - NCAPH2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3058G>A r.(=) p.(=) Unknown - benign g.50964862G>A g.50526433G>A SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=) - SCO2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3058G>A r.(=) p.(=) Unknown - benign g.50964862G>A g.50526433G>A SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=) - SCO2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3109_*3112del r.(=) p.(=) Unknown - likely benign g.50964913_50964916del g.50526484_50526487del TYMP(NM_001113755.2):c.929-6_929-3del (p.?) - TYMP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3191dup r.(?) p.(=) Unknown - likely benign g.50964995dup - TYMP(NM_001113755.2):c.928+10dup (p.(=)) - NCAPH2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3263T>G r.(=) p.(=) Unknown - pathogenic g.50965067T>G - TYMP(NM_001113755.2):c.866A>C (p.(Glu289Ala)) - TYMP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3298C>T r.(=) p.(=) Unknown - likely benign g.50965102C>T - TYMP(NM_001113755.2):c.831G>A (p.(Leu277=)) - NCAPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3793C>T r.(=) p.(=) Unknown - likely benign g.50965597C>T - TYMP(NM_001113755.2):c.762G>A (p.(Thr254=)) - NCAPH2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3819C>T r.(=) p.(=) Unknown - VUS g.50965623C>T - TYMP(NM_001113755.2):c.736G>A (p.(Glu246Lys)) - NCAPH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3820C>T r.(=) p.(=) Unknown - likely benign g.50965624C>T - TYMP(NM_001113756.2):c.735G>A (p.Q245=) - NCAPH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3879C>T r.(=) p.(=) Unknown - likely benign g.50965683C>T g.50527254C>T TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R) - NCAPH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3879C>T r.(=) p.(=) Unknown - likely benign g.50965683C>T - TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R) - NCAPH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4237C>T r.(=) p.(=) Unknown - pathogenic g.50966041C>T - TYMP(NM_001113755.2):c.622G>A (p.(Val208Met)) - NCAPH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4317C>T r.(=) p.(=) Unknown - VUS g.50966121C>T - TYMP(NM_001113755.2):c.542G>A (p.(Gly181Asp)) - NCAPH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4340C>T r.(=) p.(=) Unknown - likely benign g.50966144C>T g.50527715C>T TYMP(NM_001113756.2):c.519G>A (p.M173I) - NCAPH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5121C>T r.(=) p.(=) Unknown - likely benign g.50966925C>T - TYMP(NM_001257988.1):c.516+16G>A (p.(=)) - NCAPH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5158A>G r.(=) p.(=) Unknown - likely benign g.50966962A>G - TYMP(NM_001953.5):c.495T>C (p.(Asn165=)) - NCAPH2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5159T>C r.(=) p.(=) Unknown - likely benign g.50966963T>C - TYMP(NM_001113756.2):c.494A>G (p.N165S) - NCAPH2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5884C>T r.(=) p.(=) Unknown - likely benign g.50967688C>T - TYMP(NM_001113756.2):c.294G>A (p.S98=) - NCAPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5936C>T r.(=) p.(=) Unknown - likely benign g.50967740C>T g.50529311C>T TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q) - NCAPH2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5936C>T r.(=) p.(=) Unknown - likely benign g.50967740C>T g.50529311C>T TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q) - NCAPH2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6104C>T r.(=) p.(=) Unknown - VUS g.50967908C>T - TYMP(NM_001113755.2):c.214+17G>A (p.(=)) - NCAPH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6108C>T r.(=) p.(=) Unknown - likely benign g.50967912C>T g.50529483C>T TYMP(NM_001113755.2):c.214+13G>A (p.(=)) - TYMP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6131G>A r.(=) p.(=) Unknown - benign g.50967935G>A - TYMP(NM_001113755.2):c.204C>T (p.(Gly68=)) - NCAPH2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6141C>T r.(=) p.(=) Unknown - likely benign g.50967945C>T g.50529516C>T TYMP(NM_001113755.2):c.194G>A (p.(Ser65Asn)) - NCAPH2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6274C>G r.(=) p.(=) Unknown - likely benign g.50968078C>G - TYMP(NM_001113756.2):c.61G>C (p.E21Q) - NCAPH2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6305C>T r.(=) p.(=) Unknown - likely benign g.50968109C>T g.50529680C>T TYMP(NM_001113755.2):c.30G>A (p.(Gly10=)) - NCAPH2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6380C>A r.(=) p.(=) Unknown - likely benign g.50968184C>A - TYMP(NM_001113755.2):c.-22-24G>T (p.(=)) - NCAPH2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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