Full data view for gene MED23

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

45 entries on 1 page. Showing entries 1 - 45.
Legend   How to query  

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.40-7_40-5del r.spl? p.? Unknown - VUS g.131948828_131948830del g.131627688_131627690del MED23(NM_001270521.1):c.40-7_40-5del (p.?) - ARG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40-7_40-5dup r.spl? p.? Unknown - likely benign g.131948828_131948830dup g.131627688_131627690dup MED23(NM_001270521.1):c.40-5_40-4insTTT (p.?) - ARG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40-6_40-5dup r.spl? p.? Unknown - likely benign g.131948829_131948830dup g.131627689_131627690dup MED23(NM_001270521.1):c.40-6_40-5insTT (p.?) - ARG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40-5dup r.spl? p.? Unknown - benign g.131948830dup g.131627690dup MED23(NM_004830.4):c.40-5dupT - ARG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>T r.(?) p.(Leu79Phe) Unknown - VUS g.131946054G>A g.131624914G>A MED23(NM_004830.4):c.235C>T (p.L79F, p.(Leu79Phe)) - MED23_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>T r.(?) p.(Leu79Phe) Unknown - VUS g.131946054G>A - MED23(NM_004830.4):c.235C>T (p.L79F, p.(Leu79Phe)) - MED23_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383G>T r.(?) p.(Gly128Val) Unknown - VUS g.131944504C>A g.131623364C>A - - MED23_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.479T>C r.(?) p.(Leu160Pro) Both (homozygous) ACMG likely pathogenic g.131943037A>G g.131621897A>G - - MED23_000016 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 11DG2434 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.506A>G r.(?) p.(Tyr169Cys) Both (homozygous) - likely pathogenic (recessive) g.131941859T>C g.131620719T>C - - MED23_000015 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR85 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.781-8C>A r.(=) p.(=) Unknown - VUS g.131937150G>T - MED23(NM_004830.4):c.781-8C>A - ARG1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.877-4C>G r.spl? p.? Unknown - likely benign g.131936485G>C - MED23(NM_001376517.1):c.877-4C>G - ARG1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907T>C r.(?) p.(Cys303Arg) Unknown - VUS g.131931374A>G - MED23(NM_004830.4):c.889T>C (p.(Cys297Arg)) - ARG1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>T r.(?) p.(Glu325Ter) Unknown - VUS g.131931308C>A g.131610168C>A MED23(NM_004830.4):c.955G>T (p.E319*) - ARG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051C>T r.(?) p.(Gln351Ter) Parent #1 - VUS g.131931230G>A g.131610090G>A NM_004830.4:c.1033C>T - MED23_000017 non-concordant phenotype; only five homozygous or compound heterozygous non-truncating variants are reported in OMIM614249 phenotype (4 missense and 1 N-terminal nonsense without non-non-sense mediated decay(NMD)); compound hererozygous status of pathogenic missense and nonsense with NMD could lead to a more severe phenotype PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
?/. - c.1761C>G r.(?) p.(Ile587Met) Unknown - VUS g.131925331G>C g.131604191G>C MED23(NM_004830.4):c.1743C>G (p.I581M) - ARG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1850G>A r.(?) p.(Arg617Gln) Unknown - pathogenic g.131924269C>T g.131603129C>T MED23(NM_004830.4):c.1832G>A (p.R611Q) - MED23_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1850G>A r.(?) p.(Arg617Gln) Both (homozygous) - pathogenic (recessive) g.131924269C>T g.131603129C>T - - MED23_000007 - PubMed: Hashimoto 2011 - - Germline yes - - - - DNA SEQ - - MR;ID 21868677-Fam PubMed: Hashimoto 2011 2-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents F yes Algeria - - - - - 5 Johan den Dunnen
+/. - c.1850G>A r.(?) p.(Arg617Gln) Both (homozygous) - pathogenic (recessive) g.131924269C>T g.131603129C>T - - MED23_000007 - PubMed: Hashimoto 2011 - - Germline yes - - - - DNA SEQ - - MR;ID 21868677-FamPat2 PubMed: Hashimoto 2011 sister F yes Algeria - - - - - 1 Johan den Dunnen
?/. - c.1850G>A r.(?) p.(Arg617Gln) Parent #2 - VUS g.131924269C>T g.131603129C>T NM_004830.4:c.1832G>A - MED23_000007 non-concordant phenotype; only five homozygous or compound heterozygous non-truncating variants are reported in OMIM614249 phenotype (4 missense and 1 N-terminal nonsense without non-non-sense mediated decay(NMD)); compound hererozygous status of pathogenic missense and nonsense with NMD could lead to a more severe phenotype PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
+/. - c.1937A>G r.(?) p.(Gln646Arg) Both (homozygous) - pathogenic (recessive) g.131924182T>C g.131603042T>C - - MED23_000012 - PubMed: Lionel 2016, PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ - WGS ? 28771251-Pat32 PubMed: Lionel 2016, PubMed: Lionel 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Canada Palestinian - - - - 1 Johan den Dunnen
-?/. - c.1960A>G r.(?) p.(Thr654Ala) Unknown - likely benign g.131923511T>C g.131602371T>C MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala)) - ARG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2071C>T r.(?) p.(Arg691Ter) Unknown - VUS g.131923400G>A g.131602260G>A MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter)) - MED23_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218T>C r.(?) p.(Cys740Arg) Unknown - VUS g.131921198A>G - MED23(NM_004830.4):c.2200T>C (p.(Cys734Arg)) - ARG1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2238+8G>C r.(=) p.(=) Unknown - VUS g.131921170C>G - MED23(NM_004830.4):c.2220+8G>C - ARG1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2521T>C r.(?) p.(Ser841Pro) Unknown - VUS g.131919531A>G g.131598391A>G MED23(NM_004830.4):c.2503T>C (p.S835P) - ARG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2713C>T r.(?) p.(Arg905Ter) Unknown - VUS g.131917741G>A g.131596601G>A MED23(NM_004830.4):c.2695C>T (p.R899*) - MED23_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2732A>C r.(?) p.(Lys911Thr) Unknown - VUS g.131917722T>G - MED23(NM_004830.4):c.2714A>C (p.(Lys905Thr)) - ARG1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2990dup r.(?) p.(Gly998Argfs*5) Unknown - VUS g.131917110dup - MED23(NM_004830.4):c.2972dup (p.(Gly992Argfs*5)) - ARG1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3014-7T>G r.(=) p.(=) Unknown - VUS g.131915482A>C g.131594342A>C MED23(NM_001270521.1):c.2996-7T>G (p.(=)) - MED23_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3014-6T>C r.(=) p.(=) Unknown - likely benign g.131915481A>G g.131594341A>G MED23(NM_001270521.1):c.2996-6T>C (p.(=)) - ARG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3218A>G r.(?) p.(Tyr1073Cys) Unknown - VUS g.131915271T>C g.131594131T>C - - MED23_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3250+9T>C r.(=) p.(=) Unknown - VUS g.131915230A>G - MED23(NM_004830.4):c.3232+9T>C - ARG1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3330T>C r.(?) p.(Ala1110=) Unknown - benign g.131914232A>G g.131593092A>G MED23(NM_004830.4):c.3312T>C (p.A1104=) - MED23_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3330T>C r.(=) p.(=) Parent #1 - benign g.131914232A>G g.131593092A>G - - MED23_000002 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77187818 Germline - 24/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
+/. - c.3656A>G r.(?) p.(His1219Arg) Maternal (confirmed) - pathogenic (recessive) g.131912501T>C g.131591361T>C - - MED23_000013 - PubMed: Trehan 2015 - - Germline yes - - - - DNA SEQ - - MR;ID 25845469-FamPat1 PubMed: Trehan 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents M no United States - - - - - 2 Johan den Dunnen
+/. - c.3656A>G r.(?) p.(His1219Arg) Maternal (confirmed) - pathogenic (recessive) g.131912501T>C g.131591361T>C - - MED23_000013 - PubMed: Trehan 2015 - - Germline yes - - - - DNA SEQ - WES MR;ID 25845469-FamPat2 PubMed: Trehan 2015 brother M no United States - - - - - 1 Johan den Dunnen
-?/. - c.3957+5G>A r.3957_3958= p.Gln1319_Val1320= Both (homozygous) ACMG VUS g.131910600C>T g.131589460C>T - - MED23_000018 - PubMed: Gostain 2020, PubMed: Deshwar 2023 ClinVar-SCV000681305.2 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? CMC01 PubMed: Gostain 2020, PubMed: Deshwar 2023 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.4006C>T r.(?) p.(Arg1336*) Paternal (confirmed) - pathogenic (recessive) g.131908938G>A g.131587798G>A - - MED23_000014 - PubMed: Trehan 2015 - - Germline yes - - - - DNA SEQ - - MR;ID 25845469-FamPat1 PubMed: Trehan 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents M no United States - - - - - 2 Johan den Dunnen
+/. - c.4006C>T r.(?) p.(Arg1336*) Paternal (confirmed) - pathogenic (recessive) g.131908938G>A g.131587798G>A - - MED23_000014 - PubMed: Trehan 2015 - - Germline yes - - - - DNA SEQ - WES MR;ID 25845469-FamPat2 PubMed: Trehan 2015 brother M no United States - - - - - 1 Johan den Dunnen
?/. - c.4095+4222T>G r.(=) p.(=) Unknown - VUS g.131904627A>C g.131583487A>C ARG1(NM_001244438.2):c.822A>C (p.K274N), MED23(NM_015979.4):c.4095+4222T>G - ARG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4095+5068G>T r.(=) p.(=) Unknown - likely benign g.131903781C>A - ARG1(NM_001244438.1):c.510C>A (p.F170L) - ARG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4095+6330C>G r.(=) p.(=) Unknown - pathogenic g.131902519G>C - ARG1(NM_000045.4):c.465+1G>C - ARG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4096-4955G>A r.(=) p.(=) Unknown - benign g.131900390C>T g.131579250C>T ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.4):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4096-4955G>A r.(=) p.(=) Unknown - benign g.131900390C>T g.131579250C>T ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.4):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4096-4916G>A r.(=) p.(=) Unknown - likely benign g.131900351C>T g.131579211C>T ARG1(NM_001244438.1):c.255C>T (p.S85=) - ARG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.