Full data view for gene PMM2

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

316 entries on 4 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.1A>G r.(?) p.M1V Parent #2 - pathogenic g.8891740A>G - - - PMM2_000029 - - - - Unknown - - BmgBI+;FatI- 0 - DNA SEQ - - CDG-1A - - - ? - Spain - - 0 - - 1 Gert Matthijs
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27) Parent #1 - pathogenic g.8891763del - - - PMM2_000008 - - - - Unknown - - Cac8I+ 0 - DNA SEQ - - CDG-1A - - - ? - Poland - - 0 - - 1 Gert Matthijs
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27) Parent #1 - pathogenic g.8891763del - - - PMM2_000008 - - - - Unknown - - Cac8I+ 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
+/+ 1 c.26G>A r.(?) p.(Cys9Tyr) Parent #1 - pathogenic g.8891765G>A - - - PMM2_000022 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
+/+ 1 c.44G>A r.(?) p.(Gly15Glu) Parent #1 - pathogenic g.8891783G>A - - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- 0 - DNA SEQ - - CDG-1A - - - ? - Israel - - 0 - - 1 Gert Matthijs
+/+ 1 c.44G>A r.(?) p.(Gly15Glu) Parent #1 - pathogenic g.8891783G>A - - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 1 c.53C>G r.(?) p.(Thr18Ser) Parent #1 - pathogenic g.8891792C>G - - - PMM2_000038 - - - - Unknown - - DdeI+;HphI- 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/. - c.61C>G r.(?) p.(Arg21Gly) Unknown - pathogenic g.8891800C>G - PMM2(NM_000303.2):c.61C>G (p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.61C>G r.(?) p.(Arg21Gly) Unknown - pathogenic g.8891800C>G - PMM2(NM_000303.2):c.61C>G (p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.64C>T r.(?) p.(Gln22*) Parent #2 - pathogenic g.8891803C>T - - - PMM2_000030 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Turkey - - 0 - - 1 Gert Matthijs
?/. - c.67-6A>G r.(=) p.(=) Unknown - VUS g.8895650A>G - - - PMM2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90C>G r.(?) p.(Asp30Glu) Unknown - likely benign g.8895679C>G - PMM2(NM_000303.2):c.90C>G (p.D30E) - PMM2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.95T>G r.(?) p.(Leu32Arg) Parent #1 - - g.8895684T>G g.8801827T>G - - PMM2_000095 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123312 Germline - 2/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Parent #2 - pathogenic g.8895684_8895685delinsGC - - - PMM2_000020 - - - - Unknown - - AciI+ 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Parent #2 - pathogenic g.8895684_8895685delinsGC - - - PMM2_000020 - - - - Unknown - - AciI+ 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Unknown - pathogenic g.8895684_8895685delinsGC - - - PMM2_000020 - - - - Unknown - - MmeI+ 0 - DNA SEQ - - CDG-1A - - - ? - Australia - - 0 - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Unknown - pathogenic g.8895684_8895685delinsGC - - - PMM2_000020 - - - - Unknown - - MmeI+ 0 - DNA SEQ - - CDG-1A - - - ? - Australia - - 0 - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Parent #1 - pathogenic g.8895684_8895685delinsGC - - - PMM2_000020 - - - - Unknown - - AciI+ 0 - DNA SEQ - - CDG-1A - - - ? - Canada - - 0 - - 1 Gert Matthijs
+/+ 2 c.124G>A r.(?) p.(Gly42Arg) Parent #1 - pathogenic g.8895713G>A - - - PMM2_000021 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
+/+ 2 c.124G>A r.(?) p.(Gly42Arg) Parent #1 - pathogenic g.8895713G>A - - - PMM2_000021 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
?/. - c.124G>A r.(?) p.(Gly42Arg) Unknown - VUS g.8895713G>A - - - PMM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128T>C r.(?) p.(Val43Ala) Unknown - VUS g.8895717T>C - PMM2(NM_000303.2):c.128T>C (p.V43A) - PMM2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160dup r.(?) p.(Glu54Glyfs*6) Unknown - pathogenic g.8895749dup - PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6) - PMM2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.178G>T r.(?) p.(Val60Leu) Parent #1 - pathogenic g.8895767G>T - - - PMM2_000041 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
-/. - c.179-15dup r.(=) p.(=) Unknown - benign g.8898609dup - PMM2(NM_000303.2):c.179-15dupT - PMM2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.191A>C r.(?) p.(Tyr64Ser) Unknown - pathogenic g.8898636A>C - PMM2(NM_000303.2):c.191A>C (p.Y64S) - PMM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.193G>T r.(?) p.(Asp65Tyr) Unknown - pathogenic g.8898638G>T - PMM2(NM_000303.2):c.193G>T (p.D65Y) - PMM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr) Parent #1 - pathogenic g.8898638G>T - - - PMM2_000019 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Portugal - - 0 - - 1 Gert Matthijs
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr) Parent #1 - pathogenic g.8898638G>T - - - PMM2_000019 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - France - - 0 - - 1 Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) Parent #1 - pathogenic g.8898650C>T - - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) Parent #1 - pathogenic g.8898650C>T - - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) Parent #1 - pathogenic g.8898650C>T - - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
+/. - c.205C>T r.(?) p.(Pro69Ser) Unknown - pathogenic g.8898650C>T - - - PMM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248G>A r.(?) p.(Cys83Tyr) Unknown - VUS g.8898693G>A - PMM2(NM_000303.2):c.248G>A (p.C83Y) - PMM2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.255+2T>C r.(=) p.(=) Parent #2 - pathogenic g.8898702T>C - IVS3+2T>C - PMM2_000043 - - - - Unknown - - BfuAI+ 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
+/. - c.255+2T>C r.spl? p.? Unknown - pathogenic g.8898702T>C - - - PMM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.278A>C r.(?) p.(Glu93Ala) Parent #1 - pathogenic g.8900195A>C - - - PMM2_000003 - - - - Unknown - - AciI+;MnlI- 0 - DNA SEQ - - CDG-1A - - - ? - Spain - - 0 - - 1 Gert Matthijs
+/+ 4 c.310C>G r.(?) p.(Leu104Val) Parent #1 - pathogenic g.8900227C>G - - - PMM2_000034 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
+/+ 4 c.323C>T r.(?) p.(Ala108Val) Parent #1 - pathogenic g.8900240C>T - - - PMM2_000033 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Canada - - 0 - - 1 Gert Matthijs
+/+ 4 c.323C>T r.(?) p.(Ala108Val) Parent #1 - pathogenic g.8900240C>T - - - PMM2_000033 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
-/. - c.324G>A r.(?) p.(=) Unknown - benign g.8900241G>A - PMM2(NM_000303.2):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.324G>A r.(?) p.(=) Unknown - benign g.8900241G>A - PMM2(NM_000303.2):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.324G>A r.(=) p.(=) Parent #1 - - g.8900241G>A g.8806384G>A - - PMM2_000056 conflicting interpretations of pathogenicity; 168 heterozygous; Clinindb (India) Faruq 2020, submtted - rs62031146 Germline - 168/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 168 Mohammed Faruq
?/. - c.324G>A r.(=) p.(=) Both (homozygous) - VUS g.8900241G>A g.8806384G>A - - PMM2_000056 conflicting interpretations of pathogenicity; 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs62031146 Germline - 8/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
+/. - c.338C>T r.(?) p.(Pro113Leu) Unknown - pathogenic g.8900255C>T - PMM2(NM_000303.2):c.338C>T (p.P113L) - PMM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Austria - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Portugal - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Czech Republic - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Poland - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Spain - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - Belgium - - 0 - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T - - - PMM2_000013 - - - - Unknown - - AcuI+ 0 - DNA SEQ - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
+/. - c.338C>T r.(?) p.(Pro113Leu) Unknown - pathogenic g.8900255C>T - PMM2(NM_000303.2):c.338C>T (p.P113L) - PMM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ 5 c.357C>A r.(?) p.(Phe119Leu) Unknown - - g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown ? - - 0 - DNA ? Blood - - - - - F no Netherlands Caucasian - 0 - none 1 Anke Rietveld
?/+ 5 c.357C>A r.(?) p.(Phe119Leu) Unknown - - g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown ? - - 0 - DNA ? Blood - - - - - F - Netherlands Caucasian - 0 - - 1 Anke Rietveld
+/. - c.357C>A r.(?) p.(Phe119Leu) Unknown - pathogenic g.8904945C>A - PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.357C>A r.(?) p.(Phe119Leu) Unknown - pathogenic g.8904945C>A - PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.357C>A r.(?) p.(Phe119Leu) Unknown - pathogenic g.8904945C>A - PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Austria - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - France - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Switzerland - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - United Kingdom (Great Britain) - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA ? - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Germany - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #2 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A - - - PMM2_000007 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/. - c.357C>A r.(?) p.(Phe119Leu) Unknown - pathogenic g.8904945C>A - PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.357C>A r.(?) p.(Phe119Leu) Unknown - pathogenic g.8904945C>A - PMM2(NM_000303.2):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.359T>C r.(?) p.(Ile120Thr) Unknown - likely pathogenic g.8904947T>C - - - PMM2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.367C>T r.(?) p.(Arg123*) Parent #1 - pathogenic g.8904955C>T - - - PMM2_000011 - - - - Unknown - - - 0 - DNA SEQ - - CDG-1A - - - ? - Portugal - - 0 - - 1 Gert Matthijs
+/. - c.368G>A r.(?) p.(Arg123Gln) Unknown - pathogenic g.8904956G>A - PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.368G>A r.(?) p.(Arg123Gln) Unknown - pathogenic g.8904956G>A - PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.368G>A r.(?) p.(Arg123Gln) Unknown - pathogenic g.8904956G>A - PMM2(NM_000303.2):c.368G>A (p.R123Q) - PMM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) Parent #1 - pathogenic g.8904956G>A - - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - DNA SEQ - - CDG-1A - - - ? - Spain - - 0 - - 1 Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) Parent #2 - pathogenic g.8904956G>A - - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - DNA SEQ - - CDG-1A - - - ? - France - - 0 - - 1 Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) Parent #1 - pathogenic g.8904956G>A - - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) Parent #2 - pathogenic g.8904956G>A - - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - DNA SEQ - - CDG-1A - - - ? - Spain - - 0 - - 1 Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) Parent #1 - pathogenic g.8904956G>A - - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - DNA SEQ - - CDG-1A - - - ? - Japan - - 0 - - 1 Gert Matthijs
+/+ 5 c.368G>A r.(?) p.(Arg123Gln) Parent #1 - pathogenic g.8904956G>A - - - PMM2_000015 - - - - Unknown - - Hpy188I- 0 - DNA SEQ - - CDG-1A - - - ? - Netherlands - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - ? (unknown) - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - Italy - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - United States - - 0 - - 1 Gert Matthijs
+/+ 5 c.385G>A r.(?) p.(Val129Met) Parent #1 - pathogenic g.8904973G>A - - - PMM2_000006 - - - - Unknown - - PciI+;HpyCH4IV- 0 - DNA SEQ - - CDG-1A - - - ? - Spain - - 0 - - 1 Gert Matthijs
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