Unique variants in the MID1 gene

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

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 _1_10_ c.(?_-1)_(*1_?)dup r.? p.? - VUS g.(10435000_10417407)_(10535588_10917000)dup - - - MID1_000000 496 kb duplication MID1 PubMed: Baskin 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.75C>T r.(?) p.(Cys25=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.76G>A r.(?) p.(Ala26Thr) - likely benign g.10535512C>T g.10567472C>T - - MID1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.99C>T r.(?) p.(Cys33=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.106C>T r.(?) p.(Arg36Cys) - VUS g.10535482G>A - MID1(NM_001347733.1):c.106C>T (p.R36C) - MID1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.229G>A r.(?) p.(Val77Ile) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.263A>G r.(?) p.(Lys88Arg) - 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 - - - - - VKGL-NL_Leiden
+?/. 2 1 c.401G>A r.(?) p.(Cys134Tyr) - likely pathogenic g.10535187C>T g.10567147C>T - - MID1_000004 unclassified variant - - - Germline - - - - - Birgit Neitzel
?/. 1 - c.430G>A r.(?) p.(Glu144Lys) - VUS g.10535158C>T g.10567118C>T - - MID1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.433T>A r.(?) p.(Cys145Ser) - likely pathogenic g.10535155A>T - - - MID1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.452C>T r.(?) p.(Pro151Leu) - pathogenic g.10535136G>A - - - MID1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.511C>T r.(?) p.(Arg171Trp) - 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 - - - - - VKGL-NL_VUmc
+/. 1 - c.537_550del r.(?) p.(Asp180Tyrfs*7) - pathogenic g.10535041_10535054del g.10567001_10567014del - - MID1_000021 - - - - Germline - - - - - Andreas Laner
-/., -?/., ?/. 3 - c.588C>G r.(?) p.(Ala196=) - benign, likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 - c.660+1885_660+1886del r.(=) p.(=) - VUS g.10533042_10533043del g.10565002_10565003del - - MID1_000017 - - - - Germline - - - - - Yu Sun
?/. 2 - c.660+1886del r.(=) p.(=) - VUS g.10533042del g.10565002del - - MID1_000015 - - - - Germline - - - - - Yu Sun
./. 1 - c.661-110_756+146dup r.? p.? - pathogenic g.10490988_10491339dup g.10522948_10523299dup - - MID1_000026 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.661-8_661-7dup r.(=) p.(=) - VUS g.10491248_10491249dup g.10523208_10523209dup - - MID1_000006 - - - - Germline - - - - - Yu Sun
-/., -?/. 3 - c.661-7del r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/., ?/. 4 - c.661-7dup r.(=) p.(=) - benign, likely benign, VUS g.10491249dup g.10523209dup 1 more item - MID1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.661-6del r.(=) p.(=) - likely benign g.10491233del g.10523193del MID1(NM_000381.3):c.661-6delG (p.(=)) - MID1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.661-6G>T r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.661-5A>T r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
+/. 1 - c.661-1G>T r.spl? p.? - pathogenic g.10491228C>A g.10523188C>A MID1(NM_000381.3):c.661-1G>T - MID1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.674G>A r.(?) p.(Ser225Asn) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.712G>T r.(?) p.(Glu238*) - pathogenic g.10491176C>A g.10523136C>A - - MID1_000020 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.757-10782G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.757-5825A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.757-5748C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.757-5746C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.757-5745G>A r.(=) p.(=) - likely benign, VUS g.10469476C>T g.10501436C>T MID1(NM_001193278.1):c.880G>A (p.(Glu294Lys)) - MID1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Leiden
?/. 1 - c.757-4969A>C r.(=) p.(=) - VUS g.10468700T>G g.10500660T>G - - MID1_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.757-142A>C r.(=) p.(=) - VUS g.10463873T>G g.10495833T>G - - MID1_000019 - - - rs41303177 Germline - - - - - Andreas Laner
+/. 1 - c.829C>T r.(?) p.(Arg277*) - pathogenic g.10463659G>A g.10495619G>A - - MID1_000018 - - - - Germline - - - - - Andreas Laner
-?/. 1 4 c.861G>A r.(?) p.(=) - likely benign g.10463627C>T g.10495587C>T G287G - MID1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/. 1 - c.1102C>T r.(?) p.(Arg368*) - pathogenic g.10442702G>A - - - MID1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1141G>T r.(?) p.(Ala381Ser) - VUS g.10442663C>A g.10474623C>A - - MID1_000023 PolyPhen-2: poss.damag. (PSIC: 0,7888) - - - Germline - - - - - Andreas Laner
-/., -?/. 2 7 c.1230C>T r.(=), r.(?) p.(=) - benign, likely benign g.10437792G>A g.10469752G>A S410S - MID1_000001 recurrent, found 3 times PubMed: Tarpey 2009 - rs16986145 Germline - 3/208 cases - - - Lucy Raymond, Andreas Laner
?/. 1 - c.1231G>A r.(?) p.(Val411Met) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1285+3G>A r.spl? p.? - VUS g.10437734C>T - MID1(NM_001193278.1):c.1441G>A (p.E481K) - MID1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1285+13T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.1285+147G>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.1347G>A r.(?) p.(Thr449=) - likely benign g.10427786C>T - MID1(NM_001347733.1):c.1347G>A (p.T449=) - MID1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1354G>A r.(?) p.(Gly452Ser) - pathogenic g.10427779C>T g.10459739C>T - - MID1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1365C>T r.(?) p.(Ser455=) - likely benign g.10427768G>A - MID1(NM_001347733.1):c.1365C>T (p.S455=) - MID1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.1414C>T r.(?) p.(Arg472Cys) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.1440_1443dup r.(?) p.(Asn482AspfsTer7) - likely pathogenic g.10427691_10427694dup - MID1(NM_000381.3):c.1443_1444insGACA (p.(Asn482Aspfs*7)) - MID1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1483C>T r.(?) p.(Arg495*) - pathogenic g.10423082G>A g.10455042G>A - - MID1_000025 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.1489C>T r.(?) p.(Leu497=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1530_1533dup r.(?) p.(Ser512Valfs*10) - pathogenic g.10423033_10423036dup g.10454993_10454996dup - - MID1_000024 - - - - Germline - - - - - Andreas Laner
-?/. 2 - c.1561C>T r.(?) p.(Arg521Cys) - likely benign g.10423004G>A g.10454964G>A MID1(NM_000381.3):c.1561C>T (p.R521C) - MID1_000069 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs149482288 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Groningen, Mohammed Faruq
?/. 1 - c.1688C>T r.(?) p.(Pro563Leu) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1752G>A r.(?) p.(Trp584Ter) - pathogenic g.10417660C>T g.10449620C>T - - MID1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 10 c.1917C>T r.(?) p.(=) - likely benign g.10417495G>A g.10449455G>A P639P - MID1_000002 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/., ?/. 2 - c.1988C>T r.(?) p.(Thr663Ile) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., ?/. 3 - c.2000C>T r.(?) p.(Pro667Leu) - benign, VUS g.10417412G>A g.10449372G>A MID1(NM_000381.3):c.2000C>T (p.P667L) - MID1_000051 conflicting interpretations of pathogenicity; 4 homozygous; Clinindb (India), 2 more items PubMed: Narang 2020, Journal: Narang 2020 - rs147106995 CLASSIFICATION record, Germline - 4/2795 individuals, 6/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 2 - c.*1262del r.(=) p.(=) - VUS g.10416147del g.10448107del - - MID1_000013 - - - - Germline - - - - - Yu Sun
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