Full data view for gene MID2

Information The variants shown are described using the NM_012216.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.131C>A r.(?) p.(Pro44His) Unknown - VUS g.107084026C>A - - - MID2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.180A>C r.(?) p.(=) Maternal (inferred) - VUS g.107084075A>C g.107840845A>C 120A>C (S40S) - MID2_000002 recurrent, found 7 times; variant description modified by curator PubMed: Tarpey 2009 - - Unknown ? 7/208 cases - 0 - DNA SEQ - - MRX101 19377242-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
?/. 2 c.180A>C r.(?) p.(S60S) Unknown - VUS g.107084075A>C g.107840845A>C 120A>C (S40S) - MID2_000002 recurrent, found 42 times; the variant has also been reported in normal population (dbSNP:rs2236083) Thenral submitted - - Unknown ? 42/480 male cases - 0 - DNA SEQ - - MRX101 - - - M - India - - 0 - - 1 Thelma BK
?/. - c.362G>T r.(?) p.(Arg121Leu) Unknown - VUS g.107084257G>T - MID2(NM_012216.4):c.362G>T (p.R121L) - MID2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.407G>A r.(?) p.(Arg136Gln) Unknown - VUS g.107084302G>A g.107841072G>A MID2(NM_012216.3):c.407G>A (p.R136Q) - MID2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500G>A r.(?) p.(Arg167Gln) Unknown - VUS g.107084395G>A - MID2(NM_012216.3):c.500G>A (p.R167Q) - MID2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539G>T r.(?) p.(Arg180Leu) Unknown - VUS g.107084434G>T g.107841204G>T MID2(NM_012216.3):c.539G>T (p.R180L) - MID2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>T r.(?) p.(Asp197=) Unknown - likely benign g.107084486C>T - MID2(NM_012216.3):c.591C>T (p.D197=) - MID2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668G>A r.(?) p.(Arg223His) Unknown - VUS g.107084563G>A g.107841333G>A MID2(NM_012216.3):c.668G>A (p.R223H) - MID2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.747C>T r.(?) p.(Asn249=) Unknown - likely benign g.107097865C>T - MID2(NM_012216.3):c.747C>T (p.N249=) - MID2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.848T>C r.(?) p.(Met283Thr) Unknown - likely benign g.107147219T>C - MID2(NM_012216.3):c.848T>C (p.M283T) - MID2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.1028A>G r.(?) p.(Asn343Ser) Maternal (inferred) - VUS g.107148811A>G g.107905581A>G - - MID2_000005 - Thenral submitted - - Unknown ? 1/480 cases - 0 - DNA SEQ - - MRX101 - - - M no India - - 0 - - 1 Thelma BK
?/. - c.1028A>G r.(?) p.(Asn343Ser) Unknown - VUS g.107148811A>G g.107905581A>G MID2(NM_012216.3):c.1028A>G (p.(Asn343Ser)) - MID2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1040G>A r.(?) p.(Arg347Gln) Maternal (confirmed) - likely pathogenic g.107148823G>A g.107905593G>A - - MID2_000004 variant not observed in population controls (n=200) nor in unrelated individuals with idiopathic intellectual disability screened (n=480) Thenral et al Submitted - - Germline - - - 0 - DNA SEQ - - MRX;IDX - Thenral et al Submitted large multi-generation family; variant was observed in all affecteds (n=7) and obligate carriers (n=8) but not in any unaffected males (n=5) M - India - - 0 - - 15 Thelma BK
-?/. - c.1065T>C r.(?) p.(Ile355=) Unknown - likely benign g.107148848T>C g.107905618T>C MID2(NM_012216.3):c.1065T>C (p.I355=) - MID2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074-4del r.spl? p.? Unknown - likely benign g.107159228del - MID2(NM_012216.3):c.1074-4delT - MID2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1133C>A r.(?) p.(Asn378Asp) Maternal (inferred) - VUS g.107159291C>A g.107916061C>A 1073C>A (A358D) - MID2_000001 recurrent, found 9 times; variant description modified by curator PubMed: Tarpey 2009 - - Unknown ? 9/208 cases - 0 - DNA SEQ - - MRX101 19377241-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
?/. 6 c.1133C>A r.(?) p.(Asn378Asp) Unknown - VUS g.107159291C>A g.107916061C>A - - MID2_000001 recurrent, found 14 times. Has also been observed in the normal population (dbSNP:rs12849510) Thenral submitted - - Unknown ? 14/480 male cases - 0 - DNA SEQ - - MRX101 - - - M - India - - 0 - - 1 Thelma BK
+?/. - c.1283del r.(?) p.(Glu428GlyfsTer34) Unknown - likely pathogenic g.107160817del g.107917587del - - MID2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1461G>C r.(?) p.(Trp487Cys) Unknown - VUS g.107167598G>C g.107924368G>C - - MID2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1558G>A r.(?) p.(Gly520Ser) Unknown - VUS g.107167695G>A g.107924465G>A - - MID2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1637A>G r.(?) p.(Lys546Arg) Unknown - likely benign g.107169363A>G g.107926133A>G MID2(NM_012216.3):c.1637A>G (p.K546R) - MID2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1662G>A r.(?) p.(Leu554=) Unknown - likely benign g.107169388G>A g.107926158G>A MID2(NM_012216.3):c.1662G>A (p.L554=), MID2(NM_012216.4):c.1662G>A (p.L554=) - MID2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1662G>A r.(?) p.(Leu554=) Unknown - likely benign g.107169388G>A - MID2(NM_012216.3):c.1662G>A (p.L554=), MID2(NM_012216.4):c.1662G>A (p.L554=) - MID2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1756A>G r.(?) p.(Ile586Val) Unknown - likely benign g.107169482A>G - MID2(NM_012216.4):c.1756A>G (p.I586V) - MID2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1757T>C r.(?) p.(Ile586Thr) Unknown - likely benign g.107169483T>C g.107926253T>C MID2(NM_012216.3):c.1757T>C (p.I586T, p.(Ile586Thr)) - MID2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1757T>C r.(?) p.(Ile586Thr) Unknown - VUS g.107169483T>C g.107926253T>C MID2(NM_012216.3):c.1757T>C (p.I586T, p.(Ile586Thr)) - MID2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1829A>C r.(?) p.(Lys610Thr) Maternal (inferred) - VUS g.107169924A>C g.107926694A>C 1769A>C (K590T) - MID2_000003 found once; variant description modified by curator PubMed: Tarpey 2009 - - Unknown ? 1/208 cases - 0 - DNA SEQ - - MRX101 19377243-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1998T>C r.(?) p.(Ser666=) Unknown - likely benign g.107170093T>C - MID2(NM_012216.3):c.1998T>C (p.S666=) - MID2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2137C>T r.(?) p.(Pro713Ser) Unknown - likely benign g.107170232C>T - MID2(NM_012216.3):c.2137C>T (p.P713S) - MID2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2144G>A r.(?) p.(Arg715Gln) Unknown - VUS g.107170239G>A g.107927009G>A MID2(NM_012216.3):c.2144G>A (p.R715Q, p.(Arg715Gln)) - MID2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2144G>A r.(?) p.(Arg715Gln) Unknown - likely benign g.107170239G>A - MID2(NM_012216.3):c.2144G>A (p.R715Q, p.(Arg715Gln)) - MID2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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