Unique variants in gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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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 c.1A>G r.(?) p.M1V - pathogenic g.8891740A>G - - - PMM2_000029 - - - - Unknown - - BmgBI+;FatI- - - Gert Matthijs
+/+ 2 1 c.24del r.(?) p.(Cys9Alafs*27) - pathogenic g.8891763del - - - PMM2_000008 - - - - Unknown - - Cac8I+ - - Gert Matthijs
+/+ 1 1 c.26G>A r.(?) p.(Cys9Tyr) - pathogenic g.8891765G>A - - - PMM2_000022 - - - - Unknown - - - - - Gert Matthijs
+/+ 2 1 c.44G>A r.(?) p.(Gly15Glu) - pathogenic g.8891783G>A - - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- - - Gert Matthijs
+/+ 1 1 c.53C>G r.(?) p.(Thr18Ser) - pathogenic g.8891792C>G - - - PMM2_000038 - - - - Unknown - - DdeI+;HphI- - - Gert Matthijs
+/. 2 - c.61C>G r.(?) p.(Arg21Gly) - pathogenic g.8891800C>G - PMM2(NM_000303.2):c.61C>G (p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/+ 1 1 c.64C>T r.(?) p.(Gln22*) - pathogenic g.8891803C>T - - - PMM2_000030 - - - - Unknown - - - - - Gert Matthijs
?/. 1 - c.67-6A>G r.(=) p.(=) - VUS g.8895650A>G - - - PMM2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.90C>G r.(?) p.(Asp30Glu) - likely benign g.8895679C>G - PMM2(NM_000303.2):c.90C>G (p.D30E) - PMM2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.95T>G r.(?) p.(Leu32Arg) - - g.8895684T>G g.8801827T>G - - PMM2_000095 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123312 Germline - 2/2793 individuals - - - Mohammed Faruq
+/+ 5 2 c.95_96delinsGC r.(?) p.(Leu32Arg) - pathogenic g.8895684_8895685delinsGC - - - PMM2_000020 - - - - Unknown - - AciI+, MmeI+ - - Gert Matthijs
+/+, ?/. 3 2 c.124G>A r.(?) p.(Gly42Arg) - pathogenic, VUS g.8895713G>A - - - PMM2_000021 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - - - - Gert Matthijs, VKGL-NL_Nijmegen
?/. 1 - c.128T>C r.(?) p.(Val43Ala) - VUS g.8895717T>C - PMM2(NM_000303.2):c.128T>C (p.V43A) - PMM2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.160dup r.(?) p.(Glu54Glyfs*6) - pathogenic g.8895749dup - PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6) - PMM2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.178G>T r.(?) p.(Val60Leu) - pathogenic g.8895767G>T - - - PMM2_000041 - - - - Unknown - - - - - Gert Matthijs
-/. 1 - c.179-15dup r.(=) p.(=) - benign g.8898609dup - PMM2(NM_000303.2):c.179-15dupT - PMM2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.191A>C r.(?) p.(Tyr64Ser) - pathogenic g.8898636A>C - PMM2(NM_000303.2):c.191A>C (p.Y64S) - PMM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/. 3 3 c.193G>T r.(?) p.(Asp65Tyr) - pathogenic g.8898638G>T - PMM2(NM_000303.2):c.193G>T (p.D65Y) - PMM2_000019, PMM2_000055 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - - - - Gert Matthijs, VKGL-NL_Groningen
+/+, +/. 4 3 c.205C>T r.(?) p.(Pro69Ser) - pathogenic g.8898650C>T - - - PMM2_000026 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - Hpy188I+;BslI- - - Gert Matthijs, VKGL-NL_Nijmegen
?/. 1 - c.248G>A r.(?) p.(Cys83Tyr) - VUS g.8898693G>A - PMM2(NM_000303.2):c.248G>A (p.C83Y) - PMM2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +/+ 2 3i c.255+2T>C r.spl?, r.(=) p.?, p.(=) - pathogenic g.8898702T>C - IVS3+2T>C - PMM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - BfuAI+ - - VKGL-NL_Nijmegen, Gert Matthijs
+/+ 1 4 c.278A>C r.(?) p.(Glu93Ala) - pathogenic g.8900195A>C - - - PMM2_000003 - - - - Unknown - - AciI+;MnlI- - - Gert Matthijs
+/+ 1 4 c.310C>G r.(?) p.(Leu104Val) - pathogenic g.8900227C>G - - - PMM2_000034 - - - - Unknown - - - - - Gert Matthijs
+/+ 2 4 c.323C>T r.(?) p.(Ala108Val) - pathogenic g.8900240C>T - - - PMM2_000033 - - - - Unknown - - - - - Gert Matthijs
-/., ?/. 4 - c.324G>A r.(?), r.(=) p.(=) - benign, VUS g.8900241G>A g.8806384G>A PMM2(NM_000303.2):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland, 2 more items Faruq 2020, submtted - rs62031146 CLASSIFICATION record, Germline - 8/2795 individuals, 168/2795 individuals - - - VKGL-NL_AMC, VKGL-NL_Groningen, Mohammed Faruq
+/., +/+ 11 4 c.338C>T r.(?) p.(Pro113Leu) - pathogenic g.8900255C>T - PMM2(NM_000303.2):c.338C>T (p.P113L) - PMM2_000057, PMM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - AcuI+ - - VKGL-NL_AMC, Gert Matthijs, VKGL-NL_Nijmegen
+/., +/+, ?/+ 27 5 c.357C>A r.(?) p.(Phe119Leu) - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Rotterdam, Gert Matthijs, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_VUmc, Anke Rietveld, VKGL-NL_Utrecht
+?/. 1 - c.359T>C r.(?) p.(Ile120Thr) - likely pathogenic g.8904947T>C - - - PMM2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 5 c.367C>T r.(?) p.(Arg123*) - pathogenic g.8904955C>T - - - PMM2_000011 - - - - Unknown - - - - - Gert Matthijs
+/., +/+ 9 5 c.368G>A r.(?) p.(Arg123Gln) - pathogenic g.8904956G>A - PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058, PMM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - Hpy188I- - - VKGL-NL_Nijmegen, Gert Matthijs, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+ 8 5 c.385G>A r.(?) p.(Val129Met) - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- - - Gert Matthijs
+/+ 1 5 c.391C>G r.(?) p.(Pro131Ala) - pathogenic g.8904979C>G - - - PMM2_000018 - - - - Unknown - - AciI+;BsmFI- - - Gert Matthijs
+/+ 1 5 c.395T>A r.(?) p.(Ile132Asn) - pathogenic g.8904983T>A - - - PMM2_000023 - - - - Unknown - - - - - Gert Matthijs
+/+, +/. 3 5 c.395T>C r.(?) p.(Ile132Thr) - pathogenic g.8904983T>C - PMM2(NM_000303.2):c.395T>C (p.I132T) - PMM2_000039, PMM2_000059 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - BsrI+ - - Gert Matthijs, VKGL-NL_Groningen
+/., +/+, ?/+, +/? 91 5 c.422G>A r.(?), r.= p.(Arg141His), p.R141H - pathogenic g.8905010G>A g.8811153G>A PMM2(NM_000303.2):c.422G>A (p.R141H, p.(Arg141His)) - PMM2_000001 VKGL data sharing initiative Nederland, 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs28936415 CLASSIFICATION record, Unknown, Germline ? 3/2794 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Gert Matthijs, VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_VUmc, Anke Rietveld, Erik-Jan Kamsteeg, Mohammed Faruq, VKGL-NL_Utrecht
?/+, +/+ 2 5 c.430T>C r.(?) p.(Phe144Leu) - pathogenic g.8905018T>C g.8811161T>C - - PMM2_000044 - PubMed: Bell 2011 - - Germline, Unknown - - SacI+ - - Gerard C.P. Schaafsma, Gert Matthijs
-?/. 1 - c.441C>T r.(?) p.(=) - likely benign g.8905029C>T - PMM2(NM_000303.2):c.441C>T (p.L147=) - PMM2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 5 c.442G>A r.(?) p.(Arg141His) - pathogenic g.8905030G>A - - - PMM2_000048 - - - - Unknown - - - - - Gert Matthijs
+/+ 1 5i c.447+5G>A r.= p.= - pathogenic g.8905040G>A - IVS5+5G>A - PMM2_000035 - - - - Unknown - - HpyCH4IV- - - Gert Matthijs
-/. 4 - c.447+19T>C r.(=) p.(=) - benign g.8905054T>C - PMM2(NM_000303.2):c.447+19T>C - PMM2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.448-18T>A r.(=) p.(=) - VUS g.8905477T>A - PMM2(NM_000303.2):c.448-18T>A - PMM2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 6 c.452A>G r.(?) p.(Glu151Gly) - pathogenic g.8905499A>G - - - PMM2_000042 - - - - Unknown - - - - - Gert Matthijs
+?/. 1 - c.458_462del r.(?) p.(Ile153Thrfs*27) - likely pathogenic g.8905505_8905509del - PMM2(NM_000303.2):c.458_462delTAAGA (p.I153Tfs*27) - PMM2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+ 7 6 c.470T>C r.(?) p.(Phe157Ser) - pathogenic g.8905517T>C - - - PMM2_000071, PMM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - SfcI+ - - VKGL-NL_Nijmegen, Gert Matthijs
+/., +/+ 3 6 c.484C>T r.(?) p.(Arg162Trp) - pathogenic g.8905531C>T - - - PMM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, Gert Matthijs
+/+ 1 6 c.523G>C r.(?) p.(Gly175Arg) - pathogenic g.8905570G>C - - - PMM2_000037 - - - - Unknown - - BsaAI+ - - Gert Matthijs
-?/. 1 - c.524-16C>T r.(=) p.(=) - likely benign g.8906832C>T - - - PMM2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.527G>T r.(?) p.(Gly176Val) - likely pathogenic g.8906851G>T - PMM2(NM_000303.2):c.527G>T (p.G176V) - PMM2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.548T>C r.(?) p.(Phe183Ser) - pathogenic g.8906872T>C - PMM2(NM_000303.2):c.548T>C (p.F183S) - PMM2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., +/+ 2 7 c.556G>A r.(?) p.(Gly186Arg) - VUS, pathogenic g.8906880G>A - - - PMM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - FokI- - - VKGL-NL_Nijmegen, Gert Matthijs
+/. 1 - c.559T>C r.(?) p.(Trp187Arg) - pathogenic g.8906883T>C - PMM2(NM_000303.2):c.559T>C (p.W187R) - PMM2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 7 c.561G>C r.(?) p.(Trp187Cys) - pathogenic g.8906885G>C - - - PMM2_000040 - - - - Unknown - - SfaNI+;BsmFI- - - Gert Matthijs
+/., +/+ 5 7 c.563A>G r.(?) p.(Asp188Gly) - pathogenic g.8906887A>G - PMM2(NM_000303.2):c.563A>G (p.D188G) - PMM2_000075, PMM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen, Gert Matthijs
+?/. 1 - c.580C>T r.(?) p.(Arg194*) - likely pathogenic g.8906904C>T - PMM2(NM_000303.2):c.580C>T (p.R194*) - PMM2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 7 c.584A>G r.(?) p.(His195Arg) - pathogenic g.8906908A>G - - - PMM2_000027 - - - - Unknown - - - - - Gert Matthijs
?/. 1 - c.586G>A r.(?) p.(Val196Met) - VUS g.8906910G>A - PMM2(NM_000303.2):c.586G>A (p.V196M) - PMM2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/., ?/. 9 7 c.590A>C r.(?) p.(Glu197Ala) - likely benign, benign g.8906914A>C g.8813057A>C PMM2(NM_000303.2):c.590A>C (p.E197A) - PMM2_000049 VKGL data sharing initiative Nederland PubMed: Bell 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, Gerard C.P. Schaafsma, VKGL-NL_Groningen
?/. 1 - c.602A>G r.(?) p.(Tyr201Cys) - VUS g.8906926A>G - PMM2(NM_000303.2):c.602A>G (p.Y201C) - PMM2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.623G>C r.(?) p.(Gly208Ala) - pathogenic g.8906947G>C - - - PMM2_000036 - - - - Unknown - - HpyCH4V+;BsmAI- - - Gert Matthijs
-?/. 1 - c.639+19G>C r.(=) p.(=) - likely benign g.8906982G>C - PMM2(NM_000303.2):c.639+19G>C - PMM2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.640-13C>T r.(=) p.(=) - likely benign g.8941568C>T - PMM2(NM_000303.2):c.640-13C>T - PMM2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., +/+ 5 8 c.640G>A r.(?) p.(Gly214Ser) - VUS, pathogenic g.8941581G>A - - - PMM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - Hpy188III+;BsaJI- - - VKGL-NL_Nijmegen, Gert Matthijs
+/., +/+ 5 8 c.647A>T r.(?) p.(Asn216Ile) - pathogenic g.8941588A>T - PMM2(NM_000303.2):c.647A>T (p.N216I) - PMM2_000066, PMM2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - BsrDI- - - VKGL-NL_Groningen, Gert Matthijs
?/. 1 - c.657G>C r.(?) p.(Glu219Asp) - VUS g.8941598G>C - - - PMM2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.663C>A r.(?) p.(Phe221Leu) - VUS g.8941604C>A - PMM2(NM_000303.2):c.663C>A (p.(Phe221Leu)) - PMM2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 8 c.667G>A r.(?) p.(Asp223Asn) - pathogenic g.8941608G>A - - - PMM2_000031 - - - - Unknown - - - - - Gert Matthijs
?/. 1 - c.671C>G r.(?) p.(Pro224Arg) - VUS g.8941612C>G - - - PMM2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 8 c.677C>G r.(?) p.(Thr226Ser) - pathogenic g.8941618C>G - - - PMM2_000016 - - - - Unknown - - NcoI- - - Gert Matthijs
+/+ 1 8 c.686A>C r.(?) p.(Tyr229Ser) - pathogenic g.8941627A>C - - - PMM2_000025 - - - - Unknown - - BanII+ - - Gert Matthijs
+/+, +/. 24 8 c.691G>A r.(?), r.= p.(Val231Met), p.V231M - pathogenic g.8941632G>A - PMM2(NM_000303.2):c.691G>A (p.V231M) - PMM2_000005, PMM2_000068 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - Tsp45I- - - Gert Matthijs, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+?/., +/+, +/. 4 8 c.710C>G r.(?) p.(Thr237Arg) - likely pathogenic, pathogenic g.8941651C>G - PMM2(NM_000303.2):c.710C>G (p.T237R) - PMM2_000069, PMM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - BstUI- - - VKGL-NL_Utrecht, Gert Matthijs, VKGL-NL_AMC
+/+ 4 8 c.710C>T r.(?) p.(Thr237Met) - pathogenic g.8941651C>T - - - PMM2_000014 - - - - Unknown - - FatI+;BstUI- - - Gert Matthijs
-?/. 1 - c.711G>A r.(?) p.(=) - likely benign g.8941652G>A - PMM2(NM_000303.2):c.711G>A (p.T237=) - PMM2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.713G>A r.(?) p.(Arg238His) - VUS g.8941654G>A - PMM2(NM_000303.2):c.713G>A (p.R238H) - PMM2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
+/., +/+, +/? 12 8 c.722G>C r.(?) p.(Cys241Ser) - pathogenic g.8941663G>C - PMM2(NM_000303.2):c.722G>C (p.C241S) - PMM2_000073, PMM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - Hpy188I+;AlwNI- - - VKGL-NL_Nijmegen, Gert Matthijs, Erik-Jan Kamsteeg, VKGL-NL_Rotterdam
-/. 1 - c.*96G>C r.(=) p.(=) - benign g.8941778G>C - PMM2(NM_000303.2):c.*96G>C - PMM2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 8 c.*136A>C r.(=) p.(=) - - g.8941818A>C g.8847961A>C - - PMM2_000050 - PubMed: Almomani 2011 - rs2075827 Germline - - - - - Gerard C.P. Schaafsma
-/. 1 - c.*252C>A r.(=) p.(=) - benign g.8941934C>A - - - PMM2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*1360C>T r.(=) p.(=) - - g.8943042C>T g.8849185C>T - - PMM2_000096 47 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs72766381 Germline - 47/2795 individuals - - - Mohammed Faruq
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