Full data view for gene MED12

Information The variants shown are described using the NM_005120.2 transcript reference sequence.

260 entries on 3 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     
?/? 1 c.76_91delinsG r.(?) p.(Pro26_Gln31delInsGlu) Unknown - VUS g.70338680_70338695delinsG g.71118830_71118845delinsG - - MED12_000015 - - - - Somatic ? - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - UL - - - F - ? (unknown) Caucasian - 0 - - 1 Kati Kämpjärvi
?/? 1 c.77C>T r.(?) p.(Pro26Leu) Unknown - VUS g.70338681C>T g.71118831C>T - - MED12_000019 - - - - Somatic ? - - 0 - DNA PCR, SEQ - - UL - - - F - South Africa mixed - 0 - - 1 Kati Kämpjärvi
?/? 1 c.79_99del r.(?) p.(Gln27_Glu33del) Unknown - VUS g.70338683_70338703del g.71118833_71118853del - - MED12_000020 - - - - Somatic ? - - 0 - DNA PCR, SEQ - - UL - - - F - South Africa mixed - 0 - - 1 Kati Kämpjärvi
?/? 1 c.80A>T r.(?) p.(Gln27Leu) Unknown - VUS g.70338688_70338702del - c.84_98del15 - MED12_000017 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Somatic ? - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - UL - - - F - ? (unknown) Caucasian - 0 - - 1 Kati Kämpjärvi
?/? 1 c.83_99+1del r.spl? p.(Asp28_Glu33del) Unknown - VUS g.70338687_70338704del g.71118837_71118854del c.82_99del18 - MED12_000016 - - - - Somatic ? - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - UL - - - F - ? (unknown) Caucasian - 0 - - 1 Kati Kämpjärvi
?/? 1 c.83_99+1del r.spl? p.(Asp28_Glu33del) Unknown - VUS g.70338687_70338704del g.71118837_71118854del c.82_99del18 - MED12_000016 - - - - Somatic ? - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - UL - - - F - ? (unknown) Caucasian - 0 - - 1 Kati Kämpjärvi
?/? 1 c.84_98del r.(?) p.(Asp28_Lys32del) Unknown - VUS g.70338684A>T - - - MED12_000018 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Somatic ? - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - UL - - - F - ? (unknown) Caucasian - 0 - - 1 Kati Kämpjärvi
?/? 1i c.100-8T>A r.(?) p.(=) Unknown - VUS g.70339215T>A g.71119365T>A g.5810T>A - MED12_000013 - - - - Somatic ? - - 0 - DNA SEQ, SSCA - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
+/? 2 c.114_128del r.(?) p.(Leu39_Gln43del) Unknown - pathogenic g.70339237_70339251del g.71119387_71119401del g.5832_5846del - MED12_000008 - - - - Somatic ? - - 0 - DNA SEQ - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
+/? 2 c.123_134del r.(?) p.(Val41Phe45del) Unknown - pathogenic g.70339246_70339257del g.71119396_71119407del g.5841_5852del - MED12_000012 - - - - Somatic ? - - 0 - DNA SEQ, SSCA - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
+/? 2 c.129_143del r.(?) p.(Gly44_Gln48del) Unknown - pathogenic g.70339252_70339266del g.71119402_71119416del g.5845_5859del (c.127_141del) - MED12_000009 - - - - Somatic ? - - 0 - DNA SEQ, SSCA - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
+?/? 2 c.130G>A r.(?) p.(Gly44Ser) Unknown - likely pathogenic g.70339253G>A g.71119403G>A g.5848G>A - MED12_000011 - - - - Somatic ? - - 0 - DNA SEQ, SSCA - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
?/? 2 c.131G>A r.(?) p.(Gly44Asp) Unknown - VUS g.70339254G>A g.71119404G>A g.5849G>A - MED12_000007 - - - - Somatic ? - - 0 - DNA SEQ - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
+/? 2 c.144_161del r.(?) p.(Gln48_Asp54del) Unknown - pathogenic g.70339267_70339284del g.71119417_71119434del g.5862_5879del - MED12_000010 - - - - Somatic ? - - 0 - DNA SEQ, SSCA - - UL - - - F - Iran ? - 0 - - 1 Samaneh Sadeghi
-?/. - c.204+12_204+13del r.(=) p.(=) Unknown - likely benign g.70339339_70339340del g.71119489_71119490del MED12(NM_005120.3):c.204+12_204+13delCT - MED12_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.204+58G>C r.(=) p.(=) Unknown - benign g.70339385G>C g.71119535G>C MED12(NM_005120.3):c.204+58G>C - MED12_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.205-38C>T r.(?) p.(=) Maternal (inferred) - VUS g.70339498C>T g.71119648C>T - - MED12_000023 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 2i c.205-38C>T r.(?) p.(=) Maternal (inferred) - VUS g.70339498C>T g.71119648C>T - - MED12_000023 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.205-9_205-7del r.(=) p.(=) Unknown - VUS g.70339527_70339529del g.71119677_71119679del MED12(NM_005120.2):c.205-9_205-7delTTC - MED12_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232G>A r.(?) p.(Ala78Thr) Unknown - likely benign g.70339563G>A g.71119713G>A - - MED12_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.381G>A r.(?) p.(Thr127=) Unknown - likely benign g.70339712G>A g.71119862G>A MED12(NM_005120.2):c.381G>A (p.T127=) - MED12_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384A>G r.(?) p.(Gln128=) Unknown - likely benign g.70339715A>G g.71119865A>G MED12(NM_005120.3):c.384A>G (p.Q128=) - MED12_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.397-39G>A r.(=) p.(=) Unknown - benign g.70339825G>A g.71119975G>A MED12(NM_005120.3):c.397-39G>A - MED12_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.397-12A>T r.(=) p.(=) Unknown - likely benign g.70339852A>T g.71120002A>T MED12(NM_005120.3):c.397-12A>T - MED12_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.463C>T r.(?) p.(Arg155Trp) Parent #1 - VUS g.70339930C>T g.71120080C>T 4C>T (R2W) - MED12_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377150-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.482A>G r.(?) p.(Lys161Arg) Unknown - VUS g.70339949A>G g.71120099A>G MED12(NM_005120.3):c.482A>G (p.K161R) - MED12_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i c.553+302C>G r.(?) p.(=) Maternal (inferred) - VUS g.70340322C>G g.71120472C>G - - MED12_000026 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.553+302C>G r.(?) p.(=) Maternal (inferred) - VUS g.70340322C>G g.71120472C>G - - MED12_000026 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.554-83A>G r.(?) p.(=) Maternal (inferred) - VUS g.70340738A>G g.71120888A>G - - MED12_000027 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.554-83A>G r.(?) p.(=) Maternal (inferred) - VUS g.70340738A>G g.71120888A>G - - MED12_000027 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.653C>T r.(?) p.(Thr218Met) Unknown - VUS g.70340920C>T g.71121070C>T MED12(NM_005120.2):c.653C>T (p.T218M) - MED12_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Thr236=) Unknown - likely benign g.70340975C>T - MED12(NM_005120.3):c.708C>T (p.T236=) - MED12_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734A>G r.(?) p.(Gln245Arg) Unknown - VUS g.70341001A>G g.71121151A>G MED12(NM_005120.2):c.734A>G (p.(Gln245Arg)) - MED12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.735+15A>G r.(=) p.(=) Unknown - likely benign g.70341017A>G g.71121167A>G MED12(NM_005120.3):c.735+15A>G - MED12_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.736-14C>G r.(=) p.(=) Unknown - likely benign g.70341163C>G g.71121313C>G MED12(NM_005120.3):c.736-14C>G - MED12_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5i c.736-8A>C r.(?) p.(=) Both (homozygous) - VUS g.70341169A>C g.71121319A>C - - MED12_000024 - PubMed: Almomani 2011 - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 5i c.736-8A>C r.(?) p.(=) Maternal (inferred) - VUS g.70341169A>C g.71121319A>C - - MED12_000024 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 5i c.736-8A>C r.(?) p.(=) Maternal (inferred) - VUS g.70341169A>C g.71121319A>C - - MED12_000024 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.736-8A>C r.(=) p.(=) Unknown - benign g.70341169A>C g.71121319A>C MED12(NM_005120.3):c.736-8A>C - MED12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.736-8A>C r.(=) p.(=) Unknown - benign g.70341169A>C g.71121319A>C MED12(NM_005120.3):c.736-8A>C - MED12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814T>G r.(?) p.(Leu272Val) Unknown - VUS g.70341255T>G g.71121405T>G - - MED12_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.887G>A r.(?) p.(Arg296Gln) Unknown - pathogenic (dominant) g.70341452G>A g.71121602G>A - - MED12_000144 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat01 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.934G>C r.(?) p.(Val312Leu) Unknown - likely benign g.70341499G>C g.71121649G>C MED12(NM_005120.2):c.934G>C (p.V312L) - MED12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1039A>G r.(?) p.(Ser347Gly) Unknown - likely benign g.70341604A>G g.71121754A>G MED12(NM_005120.3):c.1039A>G (p.S347G) - MED12_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1101+1G>A r.spl? p.? Unknown - likely pathogenic g.70341667G>A - MED12(NM_005120.3):c.1101+1G>A - MED12_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140C>T r.(?) p.(His380=) Unknown - likely benign g.70342088C>T g.71122238C>T MED12(NM_005120.2):c.1140C>T (p.H380=) - MED12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1167G>A r.(?) p.(Lys389=) Unknown - likely benign g.70342115G>A g.71122265G>A MED12(NM_005120.3):c.1167G>A (p.K389=) - MED12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1248+15T>C r.(=) p.(=) Unknown - likely benign g.70342211T>C g.71122361T>C MED12(NM_005120.3):c.1248+15T>C - MED12_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1248+15T>C r.(=) p.(=) Unknown - benign g.70342211T>C g.71122361T>C MED12(NM_005120.3):c.1248+15T>C - MED12_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1249-2A>C r.spl? p.? Unknown - likely pathogenic g.70342356A>C - MED12(NM_005120.2):c.1249-2A>C - MED12_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1249-1G>C r.spl? p.? Unknown - pathogenic g.70342357G>C g.71122507G>C - - MED12_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1253G>A r.(?) p.(Arg418His) Unknown - likely benign g.70342362G>A g.71122512G>A MED12(NM_005120.3):c.1253G>A (p.R418H) - MED12_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1312C>T r.(?) p.(Arg438Cys) Unknown - VUS g.70342421C>T g.71122571C>T MED12(NM_005120.2):c.1312C>T (p.R438C) - MED12_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386G>T r.(?) p.(Val462=) Unknown - likely benign g.70342625G>T g.71122775G>T MED12(NM_005120.3):c.1386G>T (p.V462=) - MED12_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 10i c.1485+96A>G r.(?) p.(=) Maternal (inferred) - VUS g.70342820A>G g.71122970A>G - - MED12_000028 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 10i c.1485+96A>G r.(?) p.(=) Maternal (inferred) - VUS g.70342820A>G g.71122970A>G - - MED12_000028 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. - c.1510G>A r.(?) p.(Val504Met) Unknown - likely pathogenic g.70342969G>A g.71123119G>A MED12(NM_005120.3):c.1510G>A (p.V504M) - MED12_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1546C>T r.(?) p.(Arg516Cys) Unknown - likely pathogenic g.70343005C>T g.71123155C>T - - MED12_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1547G>A r.(?) p.(Arg516His) Unknown ACMG likely pathogenic g.70343006G>A - - - MED12_000213 PP3, PM5, PM6_sup, PM2, PP4 Riccardi et al. 2021 in print - - De novo - - - - - DNA SEQ-NG-I - - ID - - - F - France - - - - - 1 Svetlana Gorokhova
+?/. - c.1562G>A r.(?) p.(Arg521His) Unknown - likely pathogenic g.70343021G>A g.71123171G>A - - MED12_000192 RNA expression only reference allele PubMed: Fieremans 2016 - - De novo - - - 0 skewed X-inactivation 0:1, skewed X-inactivation (2:98 pat:mat) DNA SEQ, SEQ-NG - WES ID Pat7 PubMed: Fieremans 2016 - F - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1659C>T r.(?) p.(Ile553=) Unknown - likely benign g.70343485C>T g.71123635C>T MED12(NM_005120.2):c.1659C>T (p.I553=) - MED12_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1660G>A r.(?) p.(Ala554Thr) Unknown - VUS g.70343486G>A g.71123636G>A MED12(NM_005120.3):c.1660G>A (p.A554T) - MED12_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12i c.1744+51A>G r.(?) p.(=) Maternal (inferred) - VUS g.70343621A>G g.71123771A>G - - MED12_000029 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 12i c.1744+51A>G r.(?) p.(=) Maternal (inferred) - VUS g.70343621A>G g.71123771A>G - - MED12_000029 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1974+93G>C r.(=) p.(=) Maternal (inferred) - VUS g.70344331G>C g.71124481G>C - - MED12_000062 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1974+93G>C r.(=) p.(=) Maternal (inferred) - VUS g.70344331G>C g.71124481G>C - - MED12_000062 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2012G>A r.(?) p.(Ser671Asn) Unknown - likely benign g.70344651G>A - MED12(NM_005120.2):c.2012G>A (p.S671N) - MED12_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2056-63G>T r.(=) p.(=) Maternal (inferred) - VUS g.70344763G>T g.71124913G>T - - MED12_000050 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2056-63G>T r.(=) p.(=) Maternal (inferred) - VUS g.70344763G>T g.71124913G>T - - MED12_000050 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2109G>C r.(?) p.(Lys703Asn) Maternal (confirmed) - VUS g.70344879G>C g.71125029G>C - - MED12_000072 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - ID P16 - - M no China - >05y06m - - - 1 Wenjuan Qiu
./. - c.2216C>T r.(?) p.(Pro739Leu) Maternal (confirmed) - pathogenic g.70344986C>T g.71125136C>T MED12 P739L - MED12_000141 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamT17 PubMed: Hu 2016 family, 5 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 5 Johan den Dunnen
?/. - c.2252A>G r.(?) p.(Asn751Ser) Unknown - VUS g.70345226A>G g.71125376A>G MED12(NM_005120.2):c.2252A>G (p.N751S) - MED12_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17i c.2422+120T>G r.(?) p.(=) Maternal (inferred) - VUS g.70345683T>G g.71125833T>G - - MED12_000030 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 17i c.2422+120T>G r.(?) p.(=) Maternal (inferred) - VUS g.70345683T>G g.71125833T>G - - MED12_000030 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/? 18 c.2444G>A r.(?) p.(Arg815Gln) Unknown - likely pathogenic g.70345907G>A g.71126057G>A - - MED12_000014 - - - - Germline ? - - 0 - DNA PCR - - MRX;IDX - - - M - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+/. - c.2444G>A r.(?) p.(Arg815Gln) Maternal (confirmed) - pathogenic (recessive) g.70345907G>A g.71126057G>A - - MED12_000014 - PubMed: Tzschach 2015, PubMed: Charzewska 2018 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX Fam../Fam2 PubMed: Tzschach 2015, PubMed: Charzewska 2018 2-generation family, 3 affected brothers (3M), unaffected heterozygous carrier mother M no - - - 0 - - 3 Johan den Dunnen
?/. - c.2447G>A r.(?) p.(Arg816Gln) Unknown - VUS g.70345910G>A g.71126060G>A MED12(NM_005120.2):c.2447G>A (p.R816Q) - MED12_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2545T>C r.(?) p.(Ser849Pro) Unknown ACMG VUS g.70346194T>C g.71126344T>C - - MED12_000073 - - - - De novo yes - - 0 - DNA SEQ-NG - - ID S_067 PubMed: Popp 2017, Journal: Popp 2017 - F no ? (unknown) - - 0 - - 1 Bernt Popp
-?/. - c.2613G>A r.(?) p.(Gln871=) Unknown - likely benign g.70346262G>A g.71126412G>A MED12(NM_005120.3):c.2613G>A (p.Q871=) - MED12_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2669T>A r.(?) p.(Ile890Asn) Unknown ACMG likely pathogenic g.70346318T>A - - - MED12_000214 PP3, PM6, PM2, PP4 Riccardi et al. 2021 in print - - De novo - - - - - DNA SEQ-NG-I - - ID - - - F - France - - - - - 1 Svetlana Gorokhova
+?/. - c.2735C>T r.(?) p.(Ser912Leu) Unknown - likely pathogenic g.70346868C>T g.71127018C>T - - MED12_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2791C>T r.(?) p.(Arg931Trp) Unknown - likely benign g.70346924C>T g.71127074C>T MED12(NM_005120.3):c.2791C>T (p.R931W) - MED12_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2823G>A r.(?) p.(Gln941=) Unknown - likely benign g.70346956G>A g.71127106G>A MED12(NM_005120.2):c.2823G>A (p.Q941=) - MED12_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2861T>G r.(?) p.(Val954Gly) Maternal (confirmed) - pathogenic (recessive) g.70347197T>G g.71127347T>G - - MED12_000174 - PubMed: Charzewska 2018 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX Fam3 PubMed: Charzewska 2018 2-generation family, 4 affected brothers (4M), unaffected heterozygous carrier mother M no - - - 0 - - 4 Johan den Dunnen
./. - c.2867A>T r.(?) p.(Lys956Met) Maternal (confirmed) - pathogenic g.70347203A>T g.71127353A>T MED12 K956M - MED12_000142 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP158 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. - c.2873G>A r.(?) p.(Gly958Glu) Unknown - pathogenic g.70347209G>A g.71127359G>A MED12(NM_005120.3):c.2873G>A (p.G958E) - MED12_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) ACMG pathogenic g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - OKS - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - 1 Daniel Trujillano
+/. - c.2881C>T r.(?) p.(Arg961Trp) Unknown - pathogenic g.70347217C>T g.71127367C>T MED12(NM_005120.3):c.2881C>T (p.R961W) - MED12_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2881C>T r.(?) p.(Arg961Trp) Unknown - pathogenic g.70347217C>T g.71127367C>T MED12(NM_005120.3):c.2881C>T (p.R961W) - MED12_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Risheg 2007 - - Germline - - - 0 - DNA SEQ - - OKS FamK8610 PubMed: Risheg 2007 4-generation family, 2 affected (M), 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Risheg 2007 - - Germline - - - 0 - DNA SEQ - - OKS FamK8675 PubMed: Risheg 2007 2-generation family, 2 affected (M), 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Risheg 2007 - - Germline - - - 0 - DNA SEQ - - OKS FamK9073 PubMed: Risheg 2007 3-generation family, 4 affected (M), 2 unaffected heterozygous carrier females M - - - - 0 - - 4 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Risheg 2007 - - Germline - - - 0 - DNA SEQ - - OKS FamK9346 PubMed: Risheg 2007, PubMed: Opitz and Kaveggia 1974 4-generation family, 6 affected (M), 4 unaffected heterozygous carrier females M - - - - 0 - - 6 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Risheg 2007 - - Germline - - - 0 - DNA SEQ - - OKS FamK9049 PubMed: Risheg 2007 2-generation family, 1 affected (M), unaffected heterozygous carrier mother M - - - - 0 - - 1 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (confirmed) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Risheg 2007 - - Germline - - - 0 - DNA SEQ - - OKS FamK9055 PubMed: Risheg 2007 2-generation family, 1 affected (M), unaffected heterozygous carrier mother M - - - - 0 - - 1 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Maternal (inferred) - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Graham 2008 - - Germline - - - 0 - DNA SEQ - - OKS Pat1 PubMed: Graham 2008 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.2881C>T r.(?) p.(Arg961Trp) Unknown - pathogenic (recessive) g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Graham 2008 - - Germline - - - 0 - DNA SEQ - - OKS Pat2 PubMed: Graham 2008 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.2881C>T r.(?) p.(Arg961Trp) Unknown - likely pathogenic g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs80338758 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411442 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.2881C>T r.(?) p.(Arg961Trp) Unknown - likely pathogenic g.70347217C>T g.71127367C>T - - MED12_000071 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs80338758 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411178 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.2906G>A r.(?) p.(Arg969His) Unknown - likely benign g.70347242G>A g.71127392G>A - - MED12_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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