Full data view for gene TPRN

Information The variants shown are described using the NM_001128228.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. - c.-4439dup r.(?) p.(=) Unknown - VUS g.140099602dup - TMEM203(NM_053045.1):c.265dupA (p.(Thr89fs)) - NDOR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1_4_ c.(?_1)_(*1_?)dup r.(=) p.(=) Both (homozygous) - likely benign g.140086563_140095163dup - - - TPRN_000007 association variant with phenotype not analysed Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA MAQ - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
-?/. - c.46C>T r.(?) p.(Pro16Ser) Unknown - likely benign g.140095118G>A - TPRN(NM_001128228.2):c.46C>T (p.(Pro16Ser)) - TMEM203_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.85A>T r.(?) p.(Lys29*) Unknown - likely pathogenic g.140095079T>A - TPRN(NM_001128228.3):c.85A>T (p.(Lys29*)) - TMEM203_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - likely benign g.140095048G>A g.137200596G>A TPRN(NM_001128228.3):c.116C>T (p.P39L) - TMEM203_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176A>G r.(?) p.(Asn59Ser) Unknown ACMG VUS g.140094988T>C g.137200536T>C - - TPRN_000030 ACMG PM2, PM3_P PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB428-830 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+/. 1 c.225_235del r.(?) p.(Gly76Alafs*150) Both (homozygous) - pathogenic (recessive) g.140094948_140094958del g.137200496_137200506del 42_52del11 - TPRN_000004 not in 888 control chromosomes PubMed: Rehman 2010, Journal: Rehman 2010, PubMed: Naz 2017 - - Germline yes - - - - DNA SEQ - - DFNB79 PKDF1129/HLRB6 PubMed: Rehman 2010, Journal: Rehman 2010, PubMed: Naz 2017 5-generation family, 6 affecteds (F, 5M), unaffected heterozygous carriers parents/sibs - yes Pakistan Pakistani - - - - 6 Jacopo Celli
+/. 1 c.225_235del r.(?) p.(Gly76Alafs*150) Both (homozygous) - pathogenic g.140094948_140094958del g.137200496_137200506del c.42_52del (Gly15AlafsX150) - TPRN_000004 not in 280 control chromosomes PubMed: Li 2010, Journal: Li 2010 - - Germline yes - - - - DNA SEQ - - DFNB79 - PubMed: Li 2010, Journal: Li 2010 5-generation family, 7 affecteds (6F, M), unaffected heterozygous carriers parents/sibs - yes Morocco Moroccan - - - - 7 Jacopo Celli
+/+ 1 c.225_235del r.(?) p.(Gly76Alafs*150) Parent #1 - pathogenic g.140094948_140094958del g.137200496_137200506del - - TPRN_000028 - MORL Deafness Variation Database, PubMed: Rehman 2010, PubMed: Li 2010, PubMed: Bashir 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Rehman 2010, PubMed: Li 2010, PubMed: Bashir 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.225_235del r.(?) p.(Gly76AlafsTer150) Unknown - pathogenic g.140094948_140094958del - TPRN(NM_001128228.3):c.225_235del (p.(Gly76Alafs*150)), TPRN(NM_001128228.3):c.225_235delGGGGGCGCGGC (p.G76Afs*150) - TPRN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.225_235del r.(?) p.(Gly76AlafsTer150) Unknown - pathogenic g.140094948_140094958del - TPRN(NM_001128228.3):c.225_235del (p.(Gly76Alafs*150)), TPRN(NM_001128228.3):c.225_235delGGGGGCGCGGC (p.G76Afs*150) - TPRN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.227_237dup r.(?) p.(Leu80Glyfs*374) Both (homozygous) - pathogenic g.140094928_140094938dup g.137200476_137200486dup c.44_54dup - TPRN_000001 not in 888 control chromosomes PubMed: Rehman 2010, Journal: Rehman 2010 - - Germline yes - - - - DNA SEQ - - DFNB79 - PubMed: Khan 2010 7-generation family, 17 affecteds (5F, 12M), unaffected heterozygous carriers parents/sibs - yes Pakistan Pakistani - - - - 17 Jacopo Celli
+/+ 1 c.227_237dup r.(?) p.(Leu80Glyfs*374) Parent #1 - pathogenic g.140094928_140094938dup g.137200476_137200486dup - - TPRN_000027 - MORL Deafness Variation Database, PubMed: Rehman 2010, PubMed: Li 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Rehman 2010, PubMed: Li 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. 1 c.229G>A r.(?) p.(Ala77Thr) Unknown - benign g.140094935C>T g.137200483C>T - - TPRN_000006 - - - - Germline no - - - - DNA SEQ-NG-I Blood - DFNA1 - - DFNA9 M - Korea, South (Republic) Asian - - 52 - 1 Han Sang Kim
-/. 1 c.229G>A r.(?) p.(Ala77Thr) Unknown - benign g.140094935C>T g.137200483C>T - - TPRN_000006 - - - - Germline no - - - - DNA SEQ-NG-I Blood - DFNA1 - - DFNA9 M - Korea, South (Republic) Asian - - 48 - 1 Han Sang Kim
-?/. - c.229G>A r.(?) p.(Ala77Thr) Unknown - likely benign g.140094935C>T g.137200483C>T TPRN(NM_001128228.3):c.229G>A (p.A77T) - TPRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229G>A r.(?) p.(Ala77Thr) Unknown - VUS g.140094935C>T g.137200483C>T - - TPRN_000006 ACMG PM2_P, PM3_P, BP4 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB428-830 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.274C>T r.(?) p.(Leu92Phe) Unknown - VUS g.140094890G>A g.137200438G>A TPRN(NM_001128228.3):c.274C>T (p.L92F) - TPRN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.559G>T r.(?) p.(Ala187Ser) Unknown - benign g.140094605C>A g.137200153C>A - - TPRN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655C>A r.(?) p.(Arg219Ser) Unknown - VUS g.140094509G>T g.137200057G>T TPRN(NM_001128228.3):c.655C>A (p.R219S) - TMEM203_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655C>A r.(?) p.(Arg219Ser) Unknown - VUS g.140094509G>T - TPRN(NM_001128228.3):c.655C>A (p.R219S) - TMEM203_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663C>A r.(?) p.(Leu221=) Unknown - likely benign g.140094501G>T g.137200049G>T TPRN(NM_001128228.3):c.663C>A (p.L221=) - TPRN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669C>T r.(?) p.(Asn223=) Unknown - likely benign g.140094495G>A g.137200043G>A TPRN(NM_001128228.3):c.669C>T (p.N223=) - TPRN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674A>C r.(?) p.(His225Pro) Unknown - likely benign g.140094490T>G - TPRN(NM_001128228.3):c.674A>C (p.(His225Pro)) - TMEM203_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.744G>A r.(?) p.(Trp248Ter) Unknown - pathogenic g.140094420C>T g.137199968C>T - - TPRN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787C>G r.(?) p.(Pro263Ala) Unknown - VUS g.140094377G>C - TPRN(NM_001128228.3):c.787C>G (p.P263A) - TMEM203_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.823C>A r.(?) p.(Pro275Thr) Unknown - likely benign g.140094341G>T - TPRN(NM_001128228.3):c.823C>A (p.P275T) - TMEM203_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891C>G r.(?) p.(Phe297Leu) Parent #1 - likely benign g.140094273G>C g.137199821G>C - - TPRN_000029 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147404722 Germline - 4/2757 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.905C>A r.(?) p.(Ala302Asp) Unknown - VUS g.140094259G>T g.137199807G>T TPRN(NM_001128228.3):c.905C>A (p.A302D) - TMEM203_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.943dup r.(?) p.(Leu315Profs*32) Parent #1 - pathogenic g.140094222dup g.137199770dup - - TPRN_000026 - MORL Deafness Variation Database, PubMed: Sloan-Heggen 2016 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Sloan-Heggen 2016 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1056G>A p.(Trp352*) p.(Glu352=) Both (homozygous) - pathogenic (recessive) g.140094108C>T g.137199656C>T - - TPRN_000032 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1756 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1056G>A p.(Trp352*) p.(Glu352=) Both (homozygous) - pathogenic (recessive) g.140094108C>T g.137199656C>T - - TPRN_000032 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1757 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1056G>A p.(Trp352*) p.(Glu352=) Both (homozygous) - pathogenic (recessive) g.140094108C>T g.137199656C>T - - TPRN_000032 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1758 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1056G>A p.(Trp352*) p.(Glu352=) Both (homozygous) - pathogenic (recessive) g.140094108C>T g.137199656C>T - - TPRN_000032 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HL007 PubMed: Richard 2019 individual (F) seggregating CDH23 associated hearing loss - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1056G>A p.(Trp352*) p.(Glu352=) Both (homozygous) - pathogenic (recessive) g.140094108C>T g.137199656C>T - - TPRN_000032 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HL007PatVII3 PubMed: Richard 2019 7-generation family, 11 affected (3F, 8M), seggregating two different genetic hearing loss condistions; 1 double affected individual M yes Pakistan - - - - - 11 Johan den Dunnen
+/. 1 c.1239G>A r.(?) p.(Trp413*) Both (homozygous) - pathogenic g.140093925C>T g.137199473C>T c.1056G>A (W352X) - TPRN_000003 not in 900 control chromosomes PubMed: Rehman 2010, Journal: Rehman 2010 - - Germline yes - - - - DNA SEQ - - DFNB79 - PubMed: Khan 2010 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carriers parents/sibs M yes Pakistan Pakistani - - - - 4 Jacopo Celli
+/+ 1 c.1239G>A r.(?) p.(Trp413*) Parent #1 - pathogenic g.140093925C>T g.137199473C>T - - TPRN_000003 - MORL Deafness Variation Database, PubMed: Rehman 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Rehman 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1261C>T r.(?) p.(Pro421Ser) Unknown - likely benign g.140093903G>A g.137199451G>A TPRN(NM_001128228.3):c.1261C>T (p.P421S) - TPRN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1400C>G r.(?) p.(Pro467Arg) Unknown - likely benign g.140093764G>C - TPRN(NM_001128228.3):c.1400C>G (p.P467R) - TMEM203_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1402dup r.(?) p.(Gln468ProfsTer68) Unknown - likely pathogenic g.140093767dup g.137199315dup TPRN(NM_001128228.3):c.1402dupC (p.Q468Pfs*68) - TPRN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1402dup r.(?) p.(Gln468ProfsTer68) Unknown - pathogenic g.140093767dup g.137199315dup TPRN(NM_001128228.3):c.1402dupC (p.Q468Pfs*68) - TPRN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1427del r.(?) p.(Pro476Argfs*67) Both (homozygous) - pathogenic g.140093739del g.137199287del c.1244delC - TPRN_000002 not in 900 control chromosomes PubMed: Rehman 2010, Journal: Rehman 2010 - - Germline yes - - - - DNA SEQ - - DFNB79 - PubMed: Khan 2010 5-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carriers parents/sibs - yes Pakistan Pakistani - - - - 5 Jacopo Celli
+/+ 1 c.1427del r.(?) p.(Pro476Argfs*67) Parent #1 - pathogenic g.140093739del g.137199287del - - TPRN_000025 - MORL Deafness Variation Database, PubMed: Rehman 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Rehman 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.1530del r.(?) p.(Thr511Leufs*32) Both (homozygous) - pathogenic g.140093636del g.137199184del c.1347delG (Thr450LeufsX32) - TPRN_000005 not in 320 control chromosomes PubMed: Li 2010, Journal: Li 2010 - - Germline yes - - - - DNA SEQ - - DFNB79 - PubMed: Li 2010, Journal: Li 2010 2-generation family, 2 affecteds (F, M), unaffected heterozygous carriers parents - - Netherlands Dutch - - - - 2 Jacopo Celli
+/+ 1 c.1530del r.(?) p.(Thr511Leufs*32) Parent #1 - pathogenic g.140093636del g.137199184del - - TPRN_000024 - MORL Deafness Variation Database, PubMed: Li 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Li 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1573C>T r.(?) p.(Arg525Trp) Unknown - VUS g.140093591G>A g.137199139G>A TPRN(NM_001128228.3):c.1573C>T (p.R525W) - TMEM203_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1579C>T r.(?) p.(Arg527Trp) Unknown - VUS g.140093585G>A g.137199133G>A TPRN(NM_001128228.3):c.1579C>T (p.R527W) - TMEM203_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1668C>T r.(?) p.(Gly556=) Unknown - likely benign g.140093496G>A - TPRN(NM_001128228.3):c.1668C>T (p.G556=) - TPRN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.1725+5G>A r.spl? p.? Parent #1 - pathogenic g.140093434C>T g.137198982C>T - - TPRN_000023 - MORL Deafness Variation Database, PubMed: Sloan-Heggen 2016 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Sloan-Heggen 2016 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1726-7C>T r.(=) p.(=) Unknown - likely benign g.140087150G>A g.137192698G>A TPRN(NM_001128228.3):c.1726-7C>T - TPRN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.1743C>T r.(=) p.(=) Parent #1 - likely benign g.140087126G>A g.137192674G>A - - TPRN_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1748A>G r.(?) p.(Lys583Arg) Unknown - likely benign g.140087121T>C g.137192669T>C TPRN(NM_001128228.3):c.1748A>G (p.K583R) - TPRN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1748A>G r.(?) p.(Lys583Arg) Parent #1 - likely benign g.140087121T>C g.137192669T>C - - TPRN_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139459217 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1842_1844del r.(?) p.(Glu621del) Unknown - benign g.140087050_140087052del g.137192598_137192600del TPRN(NM_001128228.3):c.1842_1844del (p.(Glu621del)), TPRN(NM_001128228.3):c.1842_1844delGGA (p.E621del) - ANAPC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1842_1844del r.(?) p.(Glu621del) Unknown - benign g.140087050_140087052del - TPRN(NM_001128228.3):c.1842_1844del (p.(Glu621del)), TPRN(NM_001128228.3):c.1842_1844delGGA (p.E621del) - ANAPC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1842_1844dup r.(?) p.(Glu621dup) Unknown - benign g.140087050_140087052dup g.137192598_137192600dup TPRN(NM_001128228.3):c.1842_1844dupGGA (p.E621dup) - ANAPC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.1845_1847del r.(?) p.(Glu621del) Parent #1 - benign g.140087024_140087026del g.137192572_137192574del - - TPRN_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2023G>A r.(?) p.(Ala675Thr) Unknown - VUS g.140086761C>T - TPRN(NM_001128228.3):c.2023G>A (p.A675T) - ANAPC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.2057C>T r.(?) p.(Pro686Leu) Parent #1 - likely benign g.140086727G>A g.137192275G>A - - TPRN_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.*4084C>T r.(=) p.(=) Unknown - likely benign g.140082480G>A - ANAPC2(NM_013366.3):c.193C>T (p.(His65Tyr)) - ANAPC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4148A>G r.(=) p.(=) Unknown - likely benign g.140082416T>C - ANAPC2(NM_013366.3):c.257A>G (p.(Asn86Ser)) - ANAPC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4208A>G r.(=) p.(=) Unknown - likely benign g.140082356T>C - ANAPC2(NM_013366.3):c.317A>G (p.(Gln106Arg)) - ANAPC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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