Full data view for gene MID1

Information The variants shown are described using the NM_000381.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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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_10_ c.(?_-1)_(*1_?)dup r.? p.? Unknown - VUS g.(10435000_10417407)_(10535588_10917000)dup - - - MID1_000000 496 kb duplication MID1 PubMed: Baskin 2014 - - Germline/De novo (untested) - - - 0 - DNA arrayCGH, SEQ - - - 25614876-Pat3 PubMed: Baskin 2014 2-generation family, 1 affected, heterozygous carrier mother F - Canada - - 0 - - 2 Johan den Dunnen
-?/. - c.75C>T r.(?) p.(Cys25=) Unknown - likely benign g.10535513G>A g.10567473G>A MID1(NM_001347733.1):c.75C>T (p.C25=) - MID1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76G>A r.(?) p.(Ala26Thr) Unknown - likely benign g.10535512C>T g.10567472C>T - - MID1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Cys33=) Unknown - likely benign g.10535489G>A g.10567449G>A MID1(NM_000381.3):c.99C>T (p.C33=) - MID1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106C>T r.(?) p.(Arg36Cys) Unknown - VUS g.10535482G>A - MID1(NM_001347733.1):c.106C>T (p.R36C) - MID1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.229G>A r.(?) p.(Val77Ile) Unknown - likely benign g.10535359C>T g.10567319C>T MID1(NM_001347733.1):c.229G>A (p.V77I) - MID1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263A>G r.(?) p.(Lys88Arg) Unknown - VUS g.10535325T>C g.10567285T>C MID1(NM_000381.3):c.263A>G (p.(Lys88Arg)) - MID1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.401G>A r.(?) p.(Cys134Tyr) Parent #1 - likely pathogenic g.10535187C>T g.10567147C>T - - MID1_000004 unclassified variant - - - Germline - - - 0 - DNA SEQ - - ? - - positive family anamnesis, unaffected sister - - - - - 0 - - 1 Birgit Neitzel
+?/. 1 c.401G>A r.(?) p.(Cys134Tyr) Parent #1 - likely pathogenic g.10535187C>T g.10567147C>T - - MID1_000004 unclassified variant - - - Germline - - - 0 - DNA SEQ - - ? - - sister of 43788, positive family anamnesis - - - - - 0 - - 1 Birgit Neitzel
?/. - c.430G>A r.(?) p.(Glu144Lys) Unknown - VUS g.10535158C>T g.10567118C>T - - MID1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.433T>A r.(?) p.(Cys145Ser) Unknown - likely pathogenic g.10535155A>T - - - MID1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.452C>T r.(?) p.(Pro151Leu) Unknown - pathogenic g.10535136G>A - - - MID1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Trp) Unknown - VUS g.10535077G>A g.10567037G>A MID1(NM_000381.4):c.511C>T (p.R171W) - MID1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.537_550del r.(?) p.(Asp180Tyrfs*7) Parent #1 - pathogenic g.10535041_10535054del g.10567001_10567014del - - MID1_000021 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.588C>G r.(?) p.(Ala196=) Unknown - VUS g.10535000G>C g.10566960G>C MID1(NM_000381.3):c.588C>G (p.A196=, p.(=)) - MID1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.588C>G r.(?) p.(Ala196=) Unknown - benign g.10535000G>C g.10566960G>C MID1(NM_000381.3):c.588C>G (p.A196=, p.(=)) - MID1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.588C>G r.(?) p.(Ala196=) Unknown - likely benign g.10535000G>C g.10566960G>C MID1(NM_000381.3):c.588C>G (p.A196=, p.(=)) - MID1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660+1885_660+1886del r.(=) p.(=) Unknown - VUS g.10533042_10533043del g.10565002_10565003del - - MID1_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.660+1885_660+1886del r.(=) p.(=) Unknown - VUS g.10533042_10533043del g.10565002_10565003del - - MID1_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.660+1886del r.(=) p.(=) Unknown - VUS g.10533042del g.10565002del - - MID1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.660+1886del r.(=) p.(=) Unknown - VUS g.10533042del g.10565002del - - MID1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.661-110_756+146dup r.? p.? Maternal (confirmed) - pathogenic g.10490988_10491339dup g.10522948_10523299dup - - MID1_000026 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 family, affected mother/child M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
?/. - c.661-8_661-7dup r.(=) p.(=) Unknown - VUS g.10491248_10491249dup g.10523208_10523209dup - - MID1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.661-7del r.(=) p.(=) Unknown - benign g.10491249del g.10523209del MID1(NM_000381.3):c.661-7del (p.(=)), MID1(NM_000381.3):c.661-7delT - MID1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.661-7del r.(=) p.(=) Unknown - benign g.10491249del g.10523209del MID1(NM_000381.3):c.661-7del (p.(=)), MID1(NM_000381.3):c.661-7delT - MID1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.661-7del r.(=) p.(=) Unknown - likely benign g.10491249del g.10523209del MID1(NM_000381.3):c.661-7del (p.(=)), MID1(NM_000381.3):c.661-7delT - MID1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.661-7dup r.(=) p.(=) Unknown - VUS g.10491249dup g.10523209dup - - MID1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.661-7dup r.(=) p.(=) Unknown - benign g.10491249dup g.10523209dup MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.3):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT - MID1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.661-7dup r.(=) p.(=) Unknown - likely benign g.10491249dup g.10523209dup MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.3):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT - MID1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-7dup r.(=) p.(=) Unknown - benign g.10491249dup - MID1(NM_000381.3):c.661-7dup (p.(=)), MID1(NM_000381.3):c.661-7dupT, MID1(NM_001347733.1):c.661-7dupT - MID1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661-6del r.(=) p.(=) Unknown - likely benign g.10491233del g.10523193del MID1(NM_000381.3):c.661-6delG (p.(=)) - MID1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-6G>T r.(=) p.(=) Unknown - benign g.10491233C>A g.10523193C>A MID1(NM_000381.3):c.661-6G>T, MID1(NM_000381.3):c.661-6delinsT (p.(=)) - MID1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.661-6G>T r.(=) p.(=) Unknown - benign g.10491233C>A g.10523193C>A MID1(NM_000381.3):c.661-6G>T, MID1(NM_000381.3):c.661-6delinsT (p.(=)) - MID1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.661-6G>T r.(=) p.(=) Unknown - likely benign g.10491233C>A g.10523193C>A MID1(NM_000381.3):c.661-6G>T, MID1(NM_000381.3):c.661-6delinsT (p.(=)) - MID1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661-5A>T r.spl? p.? Unknown - likely benign g.10491232T>A g.10523192T>A MID1(NM_000381.3):c.661-5A>T (p.?) - MID1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.661-1G>T r.spl? p.? Unknown - pathogenic g.10491228C>A g.10523188C>A MID1(NM_000381.3):c.661-1G>T - MID1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674G>A r.(?) p.(Ser225Asn) Unknown - likely benign g.10491214C>T g.10523174C>T MID1(NM_000381.3):c.674G>A (p.S225N) - MID1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712G>T r.(?) p.(Glu238*) Parent #1 - pathogenic g.10491176C>A g.10523136C>A - - MID1_000020 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.757-10782G>A r.(=) p.(=) Unknown - likely benign g.10474513C>T g.10506473C>T MID1(NM_001193281.1):c.655G>A (p.(Val219Ile)) - MID1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757-5825A>G r.(=) p.(=) Unknown - VUS g.10469556T>C g.10501516T>C MID1(NM_001193278.1):c.800A>G (p.(Tyr267Cys)) - MID1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757-5748C>T r.(=) p.(=) Unknown - likely benign g.10469479G>A g.10501439G>A MID1(NM_001193278.1):c.877C>T (p.(Arg293Cys)) - MID1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757-5746C>T r.(=) p.(=) Unknown - likely benign g.10469477G>A g.10501437G>A MID1(NM_001193278.1):c.879C>T (p.R293=) - MID1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757-5745G>A r.(=) p.(=) Maternal (inferred) - VUS g.10469476C>T g.10501436C>T - - MID1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.757-5745G>A r.(=) p.(=) Maternal (inferred) - VUS g.10469476C>T g.10501436C>T - - MID1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.757-5745G>A r.(=) p.(=) Unknown - likely benign g.10469476C>T g.10501436C>T MID1(NM_001193278.1):c.880G>A (p.(Glu294Lys)) - MID1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.757-4969A>C r.(=) p.(=) Unknown - VUS g.10468700T>G g.10500660T>G - - MID1_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.757-142A>C r.(=) p.(=) Parent #1 - VUS g.10463873T>G g.10495833T>G - - MID1_000019 - - - rs41303177 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.829C>T r.(?) p.(Arg277*) Parent #1 - pathogenic g.10463659G>A g.10495619G>A - - MID1_000018 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. 4 c.861G>A r.(?) p.(=) Parent #1 - likely benign g.10463627C>T g.10495587C>T G287G - MID1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377467-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.1102C>T r.(?) p.(Arg368*) Unknown - pathogenic g.10442702G>A - - - MID1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141G>T r.(?) p.(Ala381Ser) Parent #1 - VUS g.10442663C>A g.10474623C>A - - MID1_000023 PolyPhen-2: poss.damag. (PSIC: 0,7888) - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1230C>T r.(=) p.(=) Parent #1 - benign g.10437792G>A g.10469752G>A - - MID1_000001 - - - rs16986145 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. 7 c.1230C>T r.(?) p.(=) Parent #1 - likely benign g.10437792G>A g.10469752G>A S410S - MID1_000001 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377468-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.1231G>A r.(?) p.(Val411Met) Unknown - VUS g.10437791C>T g.10469751C>T MID1(NM_000381.3):c.1231G>A (p.V411M) - MID1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1285+3G>A r.spl? p.? Unknown - VUS g.10437734C>T - MID1(NM_001193278.1):c.1441G>A (p.E481K) - MID1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1285+13T>C r.(=) p.(=) Unknown - VUS g.10437724A>G g.10469684A>G MID1(NM_001193278.1):c.1451T>C (p.(Met484Thr)) - MID1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1285+147G>C r.(=) p.(=) Unknown - likely benign g.10437590C>G g.10469550C>G MID1(NM_001193278.1):c.1585G>C (p.(Ala529Pro)) - MID1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1347G>A r.(?) p.(Thr449=) Unknown - likely benign g.10427786C>T - MID1(NM_001347733.1):c.1347G>A (p.T449=) - MID1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1354G>A r.(?) p.(Gly452Ser) Unknown - pathogenic g.10427779C>T g.10459739C>T - - MID1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1365C>T r.(?) p.(Ser455=) Unknown - likely benign g.10427768G>A - MID1(NM_001347733.1):c.1365C>T (p.S455=) - MID1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1414C>T r.(?) p.(Arg472Cys) Unknown - VUS g.10427719G>A g.10459679G>A MID1(NM_000381.3):c.1414C>T (p.R472C) - MID1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1414C>T r.(?) p.(Arg472Cys) Unknown - VUS g.10427719G>A g.10459679G>A MID1(NM_000381.3):c.1414C>T (p.R472C) - MID1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1414C>T r.(?) p.(Arg472Cys) Unknown - VUS g.10427719G>A g.10459679G>A MID1(NM_000381.3):c.1414C>T (p.R472C) - MID1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1440_1443dup r.(?) p.(Asn482AspfsTer7) Unknown - likely pathogenic g.10427691_10427694dup - MID1(NM_000381.3):c.1443_1444insGACA (p.(Asn482Aspfs*7)) - MID1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1483C>T r.(?) p.(Arg495*) Parent #1 - pathogenic g.10423082G>A g.10455042G>A - - MID1_000025 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.1489C>T r.(?) p.(Leu497=) Unknown - likely benign g.10423076G>A g.10455036G>A MID1(NM_000381.3):c.1489C>T (p.L497=) - MID1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1530_1533dup r.(?) p.(Ser512Valfs*10) Parent #1 - pathogenic g.10423033_10423036dup g.10454993_10454996dup - - MID1_000024 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.1561C>T r.(?) p.(Arg521Cys) Parent #1 - likely benign g.10423004G>A g.10454964G>A - - MID1_000069 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149482288 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1561C>T r.(?) p.(Arg521Cys) Unknown - likely benign g.10423004G>A - MID1(NM_000381.3):c.1561C>T (p.R521C) - MID1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688C>T r.(?) p.(Pro563Leu) Unknown - VUS g.10417724G>A g.10449684G>A MID1(NM_000381.3):c.1688C>T (p.P563L) - MID1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1752G>A r.(?) p.(Trp584Ter) Unknown - pathogenic g.10417660C>T g.10449620C>T - - MID1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 10 c.1917C>T r.(?) p.(=) Parent #1 - likely benign g.10417495G>A g.10449455G>A P639P - MID1_000002 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377469-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1988C>T r.(?) p.(Thr663Ile) Unknown - VUS g.10417424G>A g.10449384G>A MID1(NM_000381.3):c.1988C>T (p.T663I, p.(Thr663Ile)) - MID1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1988C>T r.(?) p.(Thr663Ile) Unknown - likely benign g.10417424G>A g.10449384G>A MID1(NM_000381.3):c.1988C>T (p.T663I, p.(Thr663Ile)) - MID1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2000C>T r.(?) p.(Pro667Leu) Unknown - benign g.10417412G>A g.10449372G>A MID1(NM_000381.3):c.2000C>T (p.P667L) - MID1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2000C>T r.(?) p.(Pro667Leu) Parent #1 - VUS g.10417412G>A g.10449372G>A - - MID1_000051 conflicting interpretations of pathogenicity; 6 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147106995 Germline - 6/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
?/. - c.2000C>T r.(?) p.(Pro667Leu) Unknown - VUS g.10417412G>A g.10449372G>A - - MID1_000051 conflicting interpretations of pathogenicity; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147106995 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
?/. - c.*1262del r.(=) p.(=) Unknown - VUS g.10416147del g.10448107del - - MID1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1262del r.(=) p.(=) Unknown - VUS g.10416147del g.10448107del - - MID1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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