Full data view for gene PMM2

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

378 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 g.8797883A>G - - PMM2_000029 - - - - Unknown - - BmgBI+;FatI- - - DNA SEQ - - CDG1A - - - ? - Spain - - - - - 1 Gert Matthijs
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27) Parent #1 - pathogenic g.8891763del g.8797906del - - PMM2_000008 - - - - Unknown - - Cac8I+ - - DNA SEQ - - CDG1A - - - ? - Poland - - - - - 1 Gert Matthijs
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27) Parent #1 - pathogenic g.8891763del g.8797906del - - PMM2_000008 - - - - Unknown - - Cac8I+ - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+/+ 1 c.26G>A r.(?) p.(Cys9Tyr) Parent #1 - pathogenic g.8891765G>A g.8797908G>A - - PMM2_000022 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - United States - - - - - 1 Gert Matthijs
+/+ 1 c.44G>A r.(?) p.(Gly15Glu) Parent #1 - pathogenic g.8891783G>A g.8797926G>A - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- - - DNA SEQ - - CDG1A - - - ? - Israel - - - - - 1 Gert Matthijs
+/+ 1 c.44G>A r.(?) p.(Gly15Glu) Parent #1 - pathogenic g.8891783G>A g.8797926G>A - - PMM2_000017 - - - - Unknown - - BsaI+;BccI- - - DNA SEQ - - CDG1A - - - ? - Italy - - - - - 1 Gert Matthijs
+/+ 1 c.53C>G r.(?) p.(Thr18Ser) Parent #1 - pathogenic g.8891792C>G g.8797935C>G - - PMM2_000038 - - - - Unknown - - DdeI+;HphI- - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
+?/. - c.53C>G r.(?) p.(Thr18Ser) Unknown - likely pathogenic g.8891792C>G - - - PMM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61C>G r.(?) p.(Arg21Gly) Unknown - pathogenic g.8891800C>G g.8797943C>G PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61C>G r.(?) p.(Arg21Gly) Unknown - pathogenic g.8891800C>G g.8797943C>G PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.61C>G r.(?) p.(Arg21Gly) Unknown - likely pathogenic g.8891800C>G - PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.61C>G r.(?) p.(Arg21Gly) Unknown - likely pathogenic g.8891800C>G - PMM2(NM_000303.2):c.61C>G (p.R21G), PMM2(NM_000303.3):c.61C>G (p.(Arg21Gly), p.R21G) - PMM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.64C>T r.(?) p.(Gln22*) Parent #2 - pathogenic g.8891803C>T g.8797946C>T - - PMM2_000030 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Turkey - - - - - 1 Gert Matthijs
-?/. - c.66+5G>A r.spl? p.? Unknown - likely benign g.8891810G>A - PMM2(NM_000303.3):c.66+5G>A - PMM2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67-6A>G r.(=) p.(=) Unknown - VUS g.8895650A>G g.8801793A>G - - PMM2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90C>G r.(?) p.(Asp30Glu) Unknown - likely benign g.8895679C>G g.8801822C>G PMM2(NM_000303.2):c.90C>G (p.D30E), PMM2(NM_000303.3):c.90C>G (p.D30E) - PMM2_000079 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(NM_000303.3):c.90C>G (p.D30E) - PMM2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93C>T r.(?) p.(Phe31=) Unknown - likely benign g.8895682C>T - PMM2(NM_000303.3):c.93C>T (p.F31=) - PMM2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.95T>G r.(?) p.(Leu32Arg) Parent #1 - pathogenic g.8895684T>G g.8801827T>G - - PMM2_000095 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123312 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Parent #2 - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - AciI+ - - DNA SEQ - - CDG1A - - - ? - Italy - - - - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Parent #2 - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - AciI+ - - DNA SEQ - - CDG1A - - - ? - Italy - - - - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Unknown - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - MmeI+ - - DNA SEQ - - CDG1A - - - ? - Australia - - - - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Unknown - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - MmeI+ - - DNA SEQ - - CDG1A - - - ? - Australia - - - - - 1 Gert Matthijs
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg) Parent #1 - pathogenic g.8895684_8895685delinsGC g.8801827_8801828delinsGC - - PMM2_000020 - - - - Unknown - - AciI+ - - DNA SEQ - - CDG1A - - - ? - Canada - - - - - 1 Gert Matthijs
-?/. - c.110A>T r.(?) p.(Gln37Leu) Unknown - likely benign g.8895699A>T - PMM2(NM_000303.3):c.110A>T (p.Q37L) - PMM2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.124G>A r.(?) p.(Gly42Arg) Parent #1 - pathogenic g.8895713G>A g.8801856G>A - - PMM2_000021 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
+/+ 2 c.124G>A r.(?) p.(Gly42Arg) Parent #1 - pathogenic g.8895713G>A g.8801856G>A - - PMM2_000021 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
?/. - c.124G>A r.(?) p.(Gly42Arg) Unknown - VUS g.8895713G>A g.8801856G>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.140C>A r.(?) p.(Ser47*) Unknown - pathogenic g.8895729C>A - PMM2(NM_000303.2):c.140C>A (p.S47*), PMM2(NM_000303.3):c.140C>A (p.(Ser47*)) - PMM2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140C>A r.(?) p.(Ser47*) Unknown - pathogenic g.8895729C>A - PMM2(NM_000303.2):c.140C>A (p.S47*), PMM2(NM_000303.3):c.140C>A (p.(Ser47*)) - PMM2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152A>G r.(?) p.(Lys51Arg) Unknown - pathogenic g.8895741A>G - PMM2(NM_000303.2):c.152A>G (p.(Lys51Arg)) - PMM2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160dup r.(?) p.(Glu54GlyfsTer6) Unknown - pathogenic g.8895749dup g.8801892dup PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6), PMM2(NM_000303.3):c.160dup (p.(Glu54Glyfs*6)) - PMM2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160dup r.(?) p.(Glu54GlyfsTer6) Unknown - pathogenic g.8895749dup - PMM2(NM_000303.2):c.160dupG (p.E54Gfs*6), PMM2(NM_000303.3):c.160dup (p.(Glu54Glyfs*6)) - PMM2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.169G>C r.(?) p.(Gly57Arg) Unknown - likely pathogenic g.8895758G>C - - - PMM2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.178G>T r.(?) p.(Val60Leu) Parent #1 - pathogenic g.8895767G>T g.8801910G>T - - PMM2_000041 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - United States - - - - - 1 Gert Matthijs
+/. - c.178G>T r.(?) p.(Val60Leu) Unknown - pathogenic g.8895767G>T g.8801910G>T - - PMM2_000041 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.178+7G>A r.(=) p.(=) Unknown - likely benign g.8895774G>A - PMM2(NM_000303.2):c.178+7G>A - PMM2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.179-15dup r.(=) p.(=) Unknown - benign g.8898609dup g.8804752dup PMM2(NM_000303.3):c.179-15dupT - PMM2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.190del r.(?) p.(Tyr64Thrfs*11) Unknown - pathogenic (recessive) g.8898635del g.8804778del - - PMM2_000108 - - - - Germline - - - - - DNA SEQ - - CDG1A - - - F - - - - - - - 1 Belen Perez
+/. - c.191A>C r.(?) p.(Tyr64Ser) Unknown - pathogenic g.8898636A>C g.8804779A>C PMM2(NM_000303.3):c.191A>C (p.Y64S) - PMM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.193G>T r.(?) p.(Asp65Tyr) Unknown - pathogenic g.8898638G>T g.8804781G>T PMM2(NM_000303.3):c.193G>T (p.D65Y) - PMM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr) Parent #1 - pathogenic g.8898638G>T g.8804781G>T - - PMM2_000019 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Portugal - - - - - 1 Gert Matthijs
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr) Parent #1 - pathogenic g.8898638G>T g.8804781G>T - - PMM2_000019 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - France - - - - - 1 Gert Matthijs
+/. - c.193G>T r.(?) p.(Asp65Tyr) Unknown - pathogenic g.8898638G>T - PMM2(NM_000303.3):c.193G>T (p.D65Y) - PMM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.194A>G r.(?) p.(Asp65Gly) Paternal (confirmed) - pathogenic (recessive) g.8898639A>G g.8804782A>G - - PMM2_000107 - - - - Germline - - - - - DNA SEQ - - CDG1A - - - M - - - - - - - 1 Belen Perez
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) Parent #1 - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) Parent #1 - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+/+ 3 c.205C>T r.(?) p.(Pro69Ser) Parent #1 - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 - - - - Unknown - - Hpy188I+;BslI- - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+/. - c.205C>T r.(?) p.(Pro69Ser) Unknown - pathogenic g.8898650C>T g.8804793C>T - - PMM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248G>A r.(?) p.(Cys83Tyr) Unknown - VUS g.8898693G>A g.8804836G>A PMM2(NM_000303.3):c.248G>A (p.C83Y) - PMM2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.249T>C r.(?) p.(Cys83=) Unknown - VUS g.8898694T>C - - - PMM2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.255+2T>C r.(=) p.(=) Parent #2 - pathogenic g.8898702T>C g.8804845T>C IVS3+2T>C - PMM2_000043 - - - - Unknown - - BfuAI+ - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+/. - c.255+2T>C r.spl? p.? Unknown - pathogenic g.8898702T>C g.8804845T>C PMM2(NM_000303.2):c.255+2T>C - PMM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.255+2T>C r.spl? p.? Unknown - pathogenic g.8898702T>C - PMM2(NM_000303.2):c.255+2T>C - PMM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256-1G>C r.spl? p.? Unknown - VUS g.8900172G>C - PMM2(NM_000303.2):c.256-1G>C, PMM2(NM_000303.3):c.256-1G>C - PMM2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.256-1G>C r.spl? p.? Unknown - pathogenic g.8900172G>C - PMM2(NM_000303.2):c.256-1G>C, PMM2(NM_000303.3):c.256-1G>C - PMM2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.278A>C r.(?) p.(Glu93Ala) Parent #1 - pathogenic g.8900195A>C g.8806338A>C - - PMM2_000003 - - - - Unknown - - AciI+;MnlI- - - DNA SEQ - - CDG1A - - - ? - Spain - - - - - 1 Gert Matthijs
+/+ 4 c.310C>G r.(?) p.(Leu104Val) Parent #1 - pathogenic g.8900227C>G g.8806370C>G - - PMM2_000034 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - United States - - - - - 1 Gert Matthijs
+/+ 4 c.323C>T r.(?) p.(Ala108Val) Parent #1 - pathogenic g.8900240C>T g.8806383C>T - - PMM2_000033 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Canada - - - - - 1 Gert Matthijs
+/+ 4 c.323C>T r.(?) p.(Ala108Val) Parent #1 - pathogenic g.8900240C>T g.8806383C>T - - PMM2_000033 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+?/. - c.323C>T r.(?) p.(Ala108Val) Unknown - likely pathogenic g.8900240C>T - - - PMM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324G>A r.(?) p.(Ala108=) Unknown - benign g.8900241G>A g.8806384G>A PMM2(NM_000303.3):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324G>A r.(?) p.(Ala108=) Unknown - benign g.8900241G>A g.8806384G>A PMM2(NM_000303.3):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.324G>A r.(=) p.(=) Parent #1 - VUS g.8900241G>A g.8806384G>A - - PMM2_000056 conflicting interpretations of pathogenicity; 168 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62031146 Germline - 168/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 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) PubMed: Narang 2020, Journal: Narang 2020 - rs62031146 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-/. - c.324G>A r.(?) p.(Ala108=) Unknown - benign g.8900241G>A - PMM2(NM_000303.3):c.324G>A (p.A108=) - PMM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338C>T r.(?) p.(Pro113Leu) Unknown - pathogenic g.8900255C>T g.8806398C>T PMM2(NM_000303.2):c.338C>T (p.P113L), PMM2(NM_000303.3):c.338C>T (p.P113L) - PMM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Austria - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Portugal - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Czech Republic - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Poland - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Spain - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - Belgium - - - - - 1 Gert Matthijs
+/+ 4 c.338C>T r.(?) p.(Pro113Leu) Parent #1 - pathogenic g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Unknown - - AcuI+ - - DNA SEQ - - CDG1A - - - ? - United States - - - - - 1 Gert Matthijs
+/. - c.338C>T r.(?) p.(Pro113Leu) Unknown - pathogenic g.8900255C>T g.8806398C>T PMM2(NM_000303.2):c.338C>T (p.P113L), PMM2(NM_000303.3):c.338C>T (p.P113L) - PMM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338C>T r.(?) p.(Pro113Leu) Unknown - VUS g.8900255C>T - PMM2(NM_000303.2):c.338C>T (p.P113L), PMM2(NM_000303.3):c.338C>T (p.P113L) - PMM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.338C>T r.(?) p.(Pro113Leu) Paternal (confirmed) - pathogenic (recessive) g.8900255C>T g.8806398C>T - - PMM2_000013 - - - - Germline - - - - - DNA SEQ - - CDG1A - - - M - - - - - - - 1 Belen Perez
?/+ 5 c.357C>A r.(?) p.(Phe119Leu) Unknown - VUS g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown ? - - - - DNA ? Blood - - - - - F no Netherlands white - - - none 1 Anke Rietveld
?/+ 5 c.357C>A r.(?) p.(Phe119Leu) Unknown - VUS g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown ? - - - - DNA ? Blood - - - - - F - Netherlands white - - - - 1 Anke Rietveld
+/. - c.357C>A r.(?) p.(Phe119Leu) Unknown - pathogenic g.8904945C>A g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):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 g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):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 g.8811088C>A PMM2(NM_000303.2):c.357C>A (p.F119L, p.(Phe119Leu)), PMM2(NM_000303.3):c.357C>A (p.F119L) - PMM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Austria - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - France - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Switzerland - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - United Kingdom (Great Britain) - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA ? - - CDG1A - - - ? - United States - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - United States - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Germany - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #1 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
+/+ 5 c.357C>A r.(?) p.(Phe119Leu) Parent #2 - pathogenic g.8904945C>A g.8811088C>A - - PMM2_000007 - - - - Unknown - - - - - DNA SEQ - - CDG1A - - - ? - Netherlands - - - - - 1 Gert Matthijs
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