Full data view for gene CHRNG

Information The variants shown are described using the NM_005199.4 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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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.-4590G>A r.(?) p.(=) Unknown - likely benign g.233399868G>A g.232535158G>A CHRND(NM_000751.2):c.1400G>A (p.(Arg467His)) - CHRND_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4548T>C r.(?) p.(=) Unknown - VUS g.233399910T>C g.232535200T>C CHRND(NM_000751.2):c.1442T>C (p.M481T) - CHRND_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.13C>T r.(?) p.(Gln4*) Unknown - pathogenic g.233404470C>T g.232539760C>T - - CHRNG_000042 Homozygote; Previously reported:c.DNA 13C>T, Mature protein after signal peptide cleavage Q-18X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 - - - Oman - - 0 - - 1 Johan den Dunnen
?/? 1 c.55G>A r.(?) p.(Gly19Arg) Unknown - VUS g.233404512G>A g.232539802G>A - - CHRNG_000053 compound heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 2 c.56-1G>A r.spl p.? Unknown - pathogenic g.233404701G>A g.232539991G>A - - CHRNG_000056 homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - Ireland Irish - 0 - - 1 Johan den Dunnen
+?/. - c.56-1G>A r.spl p.? Parent #1 ACMG likely pathogenic (recessive) g.233404701G>A g.232539991G>A - - CHRNG_000056 - Ravenscroft 2020, submitted - - Germline - - - 0 - DNA SEQ - - FADS - Ravenscroft 2020, submitted - - - Australia - - 0 - - 1 Gianina Ravenscroft
?/? 2 c.82C>T r.(?) p.(Arg28Cys) Unknown - VUS g.233404728C>T g.232540018C>T - - CHRNG_000052 Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Brazil - - 0 - - 1 Johan den Dunnen
?/. - c.86T>A r.(?) p.(Leu29Gln) Unknown - VUS g.233404732T>A g.232540022T>A - - CHRNG_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.125G>A r.(?) p.(Arg42Gln) Unknown - likely benign g.233404771G>A g.232540061G>A CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln), p.R42Q) - CHRNG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.125G>A r.(?) p.(Arg42Gln) Unknown - likely benign g.233404771G>A g.232540061G>A CHRNG(NM_005199.4):c.125G>A (p.(Arg42Gln), p.R42Q) - CHRNG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.136C>T r.(?) p.(Arg46*) Unknown - pathogenic g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 Affected relative infant death - diaphragmatic eventration - - Pakistan Pakistani - 0 - - 1 Johan den Dunnen
+/. 2 c.136C>T r.(?) p.(Arg46*) Both (homozygous) - pathogenic (recessive) g.233404782C>T g.232540072C>T - - CHRNG_000002 - PubMed: Sher 2018 - - Germline yes - - 0 - DNA SEQ - - EVMPS 30461311-Fam PubMed: Sher 2018 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 3 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46*) Both (homozygous) ACMG pathogenic (recessive) g.233404782C>T g.232540072C>T - - CHRNG_000002 - Ravenscroft 2020, submitted - - Germline - - - 0 - DNA SEQ - - DA - Ravenscroft 2020, submitted - - - Australia - - 0 - - 1 Gianina Ravenscroft
-/. - c.195+14C>T r.(=) p.(=) Unknown - benign g.233404855C>T g.232540145C>T - - CHRNG_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.202C>T r.(?) p.(Arg68*) Unknown - pathogenic g.233405097C>T g.232540387C>T - - CHRNG_000035 compound heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.256C>T r.(?) p.(Arg86Cys) Unknown - pathogenic g.233405327C>T g.232540617C>T - - CHRNG_000047 Compound heterozygote; Previously reported:cDNA 256C->T, Mature protein after signal peptide cleavage R64C. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Hoffmann 2006 - - - Switzerland - - 0 - - 1 Johan den Dunnen
?/? 4 c.299T>G r.(?) p.(Leu100Arg) Unknown - VUS g.233405370T>G g.232540660T>G - - CHRNG_000032 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - (Spanish / Portuguese ancestry) - 0 - - 1 Johan den Dunnen
+/+ 4 c.301_309dup r.(?) p.(Arg101_Pro103dup) Unknown - pathogenic g.233405372_233405380dup g.232540662_232540670dup - - CHRNG_000037 compound heterozygote. ; Previously reported:CDNA 300dup(9), mature protein after signal peptide cleavage 79dup(3). - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - 1 Johan den Dunnen
+/+ 4 c.320T>G r.(?) p.(Val107Gly) Unknown - pathogenic g.233405391T>G g.232540681T>G - - CHRNG_000001 Homozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Morgan 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - - Arab - 0 - - 1 Johan den Dunnen
?/? 4i c.351-9T>C r.spl? p.(=) Unknown - VUS g.233406075T>C g.232541365T>C - - CHRNG_000044 Homozygote; Previously reported as IVS4-9T->C, possible splicesite mutation. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 - - - Pakistan Pakistani - 0 - - 1 Johan den Dunnen
?/. - c.366C>A r.(?) p.(Phe122Leu) Unknown - VUS g.233406099C>A - CHRNG(NM_005199.5):c.366C>A (p.F122L) - CHRND_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.367G>A r.(?) p.(Glu123Lys) Unknown - VUS g.233406100G>A g.232541390G>A - - CHRNG_000051 Heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - Turkey Turkish - 0 - - 1 Johan den Dunnen
+/+ 5 c.388del r.(?) p.(Val130Cysfs*53) Unknown - pathogenic g.233406121del g.232541411del 388delG - CHRNG_000049 Compoound heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - - White - 0 - - 1 Johan den Dunnen
+/+ 5 c.397del r.(?) p.(Ser133Profs*50) Unknown - pathogenic g.233406130del g.232541420del 397delT - CHRNG_000031 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - White Mixed (South American ancestry) - 0 - - 1 Johan den Dunnen
+/+ 5 c.401_402del r.(?) p.(Pro134Argfs*43) Unknown - pathogenic g.233406134_233406135del g.232541424_232541425del 401_402delCT - CHRNG_000048 Homozygote; Previously reported: c.401_402delCT, p.Pro134ArgfsX34. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - 1 Johan den Dunnen
+?/. - c.420G>A r.(?) p.(Trp140*) Both (homozygous) ACMG likely pathogenic g.233406153G>A g.232541443G>A - - CHRNG_000084 ACMG grading: PVS1,PM2 - - rs201762781 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
-?/. - c.445G>A r.(?) p.(Ala149Thr) Unknown - likely benign g.233406178G>A g.232541468G>A CHRNG(NM_005199.4):c.445G>A (p.A149T) - CHRNG_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.445G>A r.(?) p.(Ala149Thr) Parent #1 - likely benign g.233406178G>A g.232541468G>A - - CHRNG_000060 185 heterozygous; Clinindb (India) Faruq 2020, submtted - rs2289080 Germline - 185/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 185 Mohammed Faruq
-?/. - c.445G>A r.(?) p.(Ala149Thr) Both (homozygous) - likely benign g.233406178G>A g.232541468G>A - - CHRNG_000060 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs2289080 Germline - 8/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
+/. - c.459dup r.(?) p.(Val154Serfs*24) Parent #1 - pathogenic g.233406192dup g.232541482dup - - CHRNG_000033 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) Unknown - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) Unknown - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - United Kingdom (Great Britain) White UK - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) Unknown - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote; Previously reported: c.469dupA, p.Val154SerfsX24. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) Unknown - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Compound heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - - White - 0 - - 1 Johan den Dunnen
+/? 5 c.459dup r.(?) p.(Val154Serfs*24) Unknown - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Homozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - - White - 0 - - 1 Johan den Dunnen
+/+ 5 c.459dup r.(?) p.(Val154Serfs*24) Maternal (confirmed) - pathogenic g.233406192dup g.232541482dup 459dupA - CHRNG_000033 Compound Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.459dup r.(?) p.(Val154Serfs*24) Both (homozygous) - pathogenic (recessive) g.233406192dup g.232541482dup 459dupA - CHRNG_000033 - PubMed: Todd 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES NMD Fam15 PubMed: Todd 2015 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.459dup r.(?) p.(Val154SerfsTer24) Unknown - pathogenic g.233406192dup g.232541482dup - - CHRNG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.459dup r.(?) p.(Val154Serfs*24) Both (homozygous) ACMG pathogenic (recessive) g.233406192dup g.232541482dup c.459dupA - CHRNG_000033 - Ravenscroft 2020, submitted - - Germline - - - 0 - DNA SEQ - - FADS - Ravenscroft 2020, submitted - - - Australia - - 0 - - 1 Gianina Ravenscroft
+/. - c.459dup r.(?) p.(Val154Serfs*24) Both (homozygous) ACMG pathogenic (recessive) g.233406192dup g.232541482dup c.459dupA - CHRNG_000033 - Ravenscroft 2020, submitted - - Germline - - - 0 - DNA SEQ - - DA - Ravenscroft 2020, submitted - - - Australia - - 0 - - 1 Gianina Ravenscroft
+/. - c.459dup r.(?) p.(Val154Serfs*24) Parent #2 ACMG pathogenic (recessive) g.233406192dup g.232541482dup c.459dupA - CHRNG_000033 - Ravenscroft 2020, submitted - - Germline - - - 0 - DNA SEQ - - FADS - Ravenscroft 2020, submitted - - - Australia - - 0 - - 1 Gianina Ravenscroft
-?/. - c.471C>T r.(?) p.(Phe157=) Unknown - likely benign g.233406204C>T - CHRNG(NM_005199.4):c.471C>T (p.F157=) - CHRND_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.507-13C>T r.(=) p.(=) Unknown - benign g.233407120C>T g.232542410C>T CHRNG(NM_005199.5):c.507-13C>T - CHRNG_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.507-13C>T r.(=) p.(=) Unknown - benign g.233407120C>T g.232542410C>T CHRNG(NM_005199.5):c.507-13C>T - CHRNG_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Hoffmann 2006 Multiple Pterygium Syndrome: nonlethal and lethal - - Lebanon - - 0 - - 1 Johan den Dunnen
+/+ 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Hoffmann 2006 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.753_754del r.(?) p.(Val253Alafs*44) Parent #1 - pathogenic g.233407740_233407741del g.232543030_232543031del - - CHRNG_000008 literatue: p.(Pro251Profs*46) - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) Unknown - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote.; Previously reported p.Pro251ProfsX46 - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Morgan 2006 - - - Turkey Turkish - 0 - - 1 Johan den Dunnen
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) Unknown - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) Unknown - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Homozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.753_754del r.(?) p.(Val253Alafs*44) Paternal (inferred) - pathogenic g.233407740_233407741del g.232543030_232543031del 753_754delCT - CHRNG_000008 Compound Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.754T>C r.(?) p.(Cys252Arg) Unknown - VUS g.233407741T>C g.232543031T>C CHRNG(NM_005199.5):c.754T>C (p.C252R) - CHRNG_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8_81 c.806-17_806del r.spl p.? Both (homozygous) - likely pathogenic g.233407968_233407985del g.232543258_232543275del - - CHRNG_000057 g.8532_8549del - - - Germline - - - 0 - DNA SEQ - - EVMPS - - - M yes Turkey Turkish - 0 - - 1 Selma Demir Ulusal
+/+ 8 c.807dup r.(?) p.(Gly270Trpfs*28) Unknown - pathogenic g.233407986dup g.232543276dup 807dupT - CHRNG_000045 Homozygote; Previously reported:cDNA 807insT, Mature protein after signal peptide cleavage248-274, 275X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 - - - Lebanon - - 0 - - 1 Johan den Dunnen
?/. - c.807dup r.(?) p.(Gly270TrpfsTer28) Unknown - VUS g.233407986dup g.232543276dup CHRNG(NM_005199.4):c.806_807insT (p.(Gly270TrpfsTer28)) - CHRNG_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.921-12C>T r.(=) p.(=) Unknown - benign g.233408283C>T g.232543573C>T - - CHRNG_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.951C>A r.(?) p.(Ile317=) Unknown - likely benign g.233408325C>A g.232543615C>A CHRNG(NM_005199.4):c.951C>A (p.(=)) - CHRNG_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1132_1136dup r.(?) p.(Gly380Profs*39) Unknown - pathogenic g.233409173_233409177dup g.232544463_232544467dup - - CHRNG_000054 compound heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Vogt 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.1210C>T r.(?) p.(Gln404*) Maternal (confirmed) - pathogenic g.233409251C>T g.232544541C>T - - CHRNG_000068 - - ClinVar-487641 - Uniparental disomy, maternal allele - 0 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
+/+ 10 c.1249G>C r.(?) p.(Glu417Gln) Unknown - pathogenic g.233409290G>C g.232544580G>C - - CHRNG_000046 Homozygote; Previously reported:cDNA 1249G->C, Mature protein after signal peptide cleavage395-418, 419X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 One affected deceased, cause unspecified. - - Lebanon - - 0 - - 1 Johan den Dunnen
?/? 10 c.1259C>T r.(?) p.(Pro420Leu) Unknown - VUS g.233409491C>T g.232544781C>T - - CHRNG_000055 Heterozygote - - - Germline - - - 0 - DNA SEQ - - EVMPS - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Somalia Somalian - 0 - - 1 Johan den Dunnen
+/+ 11 c.1292_1311del r.(?) p.(Leu431Hisfs*22) Unknown - pathogenic g.233409524_233409543del g.232544814_232544833del 1292_1311del20 - CHRNG_000041 Homozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - PubMed: Vogt 2011 - - - Algeria Algerian - 0 - - 1 Johan den Dunnen
?/. - c.1381G>A r.(?) p.(Gly461Arg) Unknown - VUS g.233410253G>A g.232545543G>A - - CHRNG_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1408C>T r.(?) p.(Arg470*) Unknown - pathogenic g.233410280C>T g.232545570C>T - - CHRNG_000038 compound heterozygote. ; Previously reported:CDNA 1408C->T, mature protein after signal peptide cleavage R448X. - - - Germline - - - 0 - DNA SEQ - - EVMPS - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - 1 Johan den Dunnen
-/. - c.1422C>T r.(?) p.(Arg474=) Unknown - benign g.233410294C>T g.232545584C>T CHRNG(NM_005199.5):c.1422C>T (p.R474=) - CHRNG_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 12 c.1422C>T r.(?) p.(=) Unknown - benign g.233410294C>T g.232545584C>T - - CHRNG_000064 - - - - Uniparental disomy, maternal allele - 0.2 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
?/? 12 c.1516C>T r.(?) p.(Pro506Ser) Unknown - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 Heterozygote - - - Germline - - - 0 - DNA SEQ - - LMPS - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1516C>T r.(?) p.(Pro506Ser) Parent #1 - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 conflicting interpretations of pathogenicity; 58 heterozygous; Clinindb (India) Faruq 2020, submtted - rs71421651 Germline - 58/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 58 Mohammed Faruq
?/. - c.1516C>T r.(?) p.(Pro506Ser) Both (homozygous) - VUS g.233410388C>T g.232545678C>T - - CHRNG_000050 conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs71421651 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.*2971_*2976del r.(=) p.(=) Unknown - likely benign g.233413397_233413402del g.232548687_232548692del TIGD1(NM_145702.1):c.1195_1200del (p.(Leu399_Thr400del)) - TIGD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3718G>A r.(=) p.(=) Unknown - likely benign g.233414144G>A g.232549434G>A TIGD1(NM_145702.1):c.449C>T (p.(Ala150Val)) - CHRNG_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3725T>C r.(=) p.(=) Unknown - likely benign g.233414151T>C g.232549441T>C TIGD1(NM_145702.1):c.442A>G (p.(Ile148Val)) - CHRNG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3734A>G r.(=) p.(=) Unknown - likely benign g.233414160A>G g.232549450A>G TIGD1(NM_145702.1):c.433T>C (p.(Phe145Leu)) - CHRNG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3753C>G r.(=) p.(=) Unknown - likely benign g.233414179C>G g.232549469C>G TIGD1(NM_145702.1):c.414G>C (p.(Arg138Ser)) - CHRNG_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3943C>T r.(=) p.(=) Unknown - likely benign g.233414369C>T g.232549659C>T TIGD1(NM_145702.1):c.224G>A (p.(Arg75Gln)) - TIGD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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