Full data view for gene MYPN

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_032578.3 transcript reference sequence.

673 entries on 7 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     
-/. - c.17T>C r.(?) p.(Ile6Thr) Unknown - benign g.69881212T>C g.68121455T>C MYPN(NM_032578.3):c.17T>C (p.I6T) - MYPN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42G>A r.(?) p.(Gln14=) Unknown - benign g.69881237G>A g.68121480G>A MYPN(NM_032578.4):c.42G>A (p.Q14=) - MYPN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.59A>G r.(?) p.(Tyr20Cys) Parent #1 - pathogenic g.69881254A>G g.68121497A>G - - MYPN_000023 de novo, in patient PubMed: Purevjav 2012 - - De novo - - - - - DNA DHPLC, SEQ - - CMH 22286171-PatVIII PubMed: Purevjav 2012 - M - (United States) white >59y - - - 1 Julia Lopez
+/. 2 c.59A>G r.(?) p.(Tyr20Cys) Parent #1 - pathogenic g.69881254A>G g.68121497A>G - - MYPN_000023 - PubMed: Purevjav 2012 - - Germline - - - - - DNA DHPLC, SEQ - - CMD 22286171-PatH558307 PubMed: Purevjav 2012 - M - - white >58y - - - 1 Julia Lopez
+?/. 2 c.59A>G r.(?) p.Tyr20Cys Unknown - NA g.69881254A>G g.68121497A>G - - MYPN_000023 expression cloning neonatal rat cardiomyocytes, normal Z-disc assembly, impaired nuclear localisation PubMed: Purevjav 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.59A>G r.(?) p.Tyr20Cys Unknown - pathogenic g.69881254A>G g.68121497A>G - - MYPN_000023 transgenic mouse (overexpression) PubMed: Purevjav 2012 - - animal model - - - - - DNA DHPLC, SEQ - - ? - PubMed: Purevjav 2012 - - - - - - - - - 1 Johan den Dunnen
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.69881254A>G g.68121497A>G MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C) - MYPN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.69881254A>G g.68121497A>G MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C) - MYPN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.69881254A>G g.68121497A>G MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C) - MYPN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - likely benign g.69881254A>G g.68121497A>G MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C) - MYPN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.69881254A>G g.68121497A>G MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C) - MYPN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.69881254A>G - MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C) - MYPN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61T>C r.(?) p.(Leu21=) Unknown - likely benign g.69881256T>C - MYPN(NM_032578.3):c.61T>C (p.L21=) - MYPN_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65C>G r.(?) p.(Ala22Gly) Unknown - likely benign g.69881260C>G g.68121503C>G MYPN(NM_032578.3):c.65C>G (p.A22G), MYPN(NM_032578.4):c.65C>G (p.A22G) - MYPN_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65C>G r.(?) p.(Ala22Gly) Unknown - VUS g.69881260C>G g.68121503C>G MYPN(NM_032578.3):c.65C>G (p.A22G), MYPN(NM_032578.4):c.65C>G (p.A22G) - MYPN_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.70del r.(?) p.(Thr24ProfsTer44) Unknown - likely pathogenic g.69881265del g.68121508del MYPN(NM_032578.4):c.70delA (p.T24Pfs*44) - MYPN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70del r.(?) p.(Thr24ProfsTer44) Unknown - VUS g.69881265del g.68121508del MYPN(NM_032578.4):c.70delA (p.T24Pfs*44) - MYPN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80G>C r.(?) p.(Arg27Pro) Unknown - likely benign g.69881275G>C g.68121518G>C MYPN(NM_032578.4):c.80G>C (p.R27P) - MYPN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.80G>C r.(?) p.(Arg27Pro) Unknown - VUS g.69881275G>C g.68121518G>C MYPN(NM_032578.4):c.80G>C (p.R27P) - MYPN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83G>C r.(?) p.(Gly28Ala) Unknown - VUS g.69881278G>C g.68121521G>C MYPN(NM_032578.4):c.83G>C (p.G28A) - MYPN_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94_95del r.(?) p.(Arg32GlufsTer20) Unknown - pathogenic g.69881289_69881290del g.68121532_68121533del MYPN(NM_032578.3):c.94_95delAG (p.R32Efs*20) - MYPN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103G>T r.(?) p.(Ala35Ser) Unknown - VUS g.69881298G>T g.68121541G>T MYPN(NM_032578.3):c.103G>T (p.A35S), MYPN(NM_032578.4):c.103G>T (p.A35S) - MYPN_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103G>T r.(?) p.(Ala35Ser) Unknown - likely benign g.69881298G>T g.68121541G>T MYPN(NM_032578.3):c.103G>T (p.A35S), MYPN(NM_032578.4):c.103G>T (p.A35S) - MYPN_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103G>T r.(?) p.(Ala35Ser) Unknown - likely benign g.69881298G>T g.68121541G>T MYPN(NM_032578.3):c.103G>T (p.A35S), MYPN(NM_032578.4):c.103G>T (p.A35S) - MYPN_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Ala35Val) Unknown - VUS g.69881299C>T g.68121542C>T MYPN(NM_032578.3):c.104C>T (p.A35V) - MYPN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105G>A r.(?) p.(Ala35=) Unknown - likely benign g.69881300G>A g.68121543G>A MYPN(NM_032578.3):c.105G>A (p.A35=) - MYPN_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123T>C r.(?) p.(Pro41=) Unknown - likely benign g.69881318T>C g.68121561T>C MYPN(NM_032578.4):c.123T>C (p.P41=) - MYPN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138T>C r.(?) p.(Ser46=) Unknown - likely benign g.69881333T>C g.68121576T>C - - MYPN_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Pro47Leu) Unknown - VUS g.69881335C>T g.68121578C>T MYPN(NM_001256267.1):c.140C>T (p.(Pro47Leu)), MYPN(NM_032578.4):c.140C>T (p.P47L) - MYPN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Pro47Leu) Unknown - likely benign g.69881335C>T g.68121578C>T MYPN(NM_001256267.1):c.140C>T (p.(Pro47Leu)), MYPN(NM_032578.4):c.140C>T (p.P47L) - MYPN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Gly56Ser) Unknown - likely benign g.69881361G>A g.68121604G>A MYPN(NM_032578.3):c.166G>A (p.G56S) - MYPN_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>C r.(?) p.(Asp58His) Unknown - VUS g.69881367G>C - MYPN(NM_032578.4):c.172G>C (p.D58H) - MYPN_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203G>C r.(?) p.(Ser68Thr) Unknown - VUS g.69881398G>C g.68121641G>C MYPN(NM_032578.3):c.203G>C (p.S68T) - MYPN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.204C>A r.(?) p.(Ser68Arg) Unknown - VUS g.69881399C>A g.68121642C>A - - MYPN_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211_213del r.(?) p.(Glu71del) Unknown - VUS g.69881406_69881408del g.68121649_68121651del MYPN(NM_032578.4):c.211_213delGAA (p.E71del) - MYPN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223A>G r.(?) p.(Ser75Gly) Unknown - VUS g.69881418A>G - MYPN(NM_032578.4):c.223A>G (p.S75G) - MYPN_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233T>A r.(?) p.(Leu78*) Unknown - VUS g.69881428T>A - - - MYPN_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.248del r.248del p.Ile83Thrfs*23 Parent #1 - likely pathogenic g.69881443del g.68121686del 248delT - MYPN_000001 not in 800 control chromosomes; mRNA nonsense-mediated decay (85% reduced) PubMed: Duboscq-Bidot 2008 - - Germline - - BccI- - - DNA, RNA RT-PCR, SEQ - - CMD 18006477-FamAII1 PubMed: Duboscq-Bidot 2008 3-generation family, 2 affecteds, 2 unaffected carriers F - France European >65y - - - 1 Johan den Dunnen
+?/. 2 c.248del r.(?) p.(Ile83Thrfs*23) Parent #1 - likely pathogenic g.69881443del g.68121686del I83fsX105 - MYPN_000001 not in 800 control chromosomes PubMed: Duboscq-Bidot 2008 - - Germline - - BccI- - - DNA SEQ - - CMD 18006477-FamAII4 PubMed: Duboscq-Bidot 2008 3-generation family, 2 affecteds, 2 unaffected carriers M - France European 47y - - - 1 Johan den Dunnen
+?/. 2 c.248del r.(?) p.(Ile83Thrfs*23) Maternal (confirmed) - likely pathogenic g.69881443del g.68121686del 248delT - MYPN_000001 not in 800 control chromosomes PubMed: Duboscq-Bidot 2008 - - Germline - - BccI- - - DNA SEQ - - ? 18006477-FamAIII1 PubMed: Duboscq-Bidot 2008 3-generation family, 2 affecteds, 2 unaffected carriers F - France European >38y - - - 1 Johan den Dunnen
+?/. 2 c.248del r.(?) p.(Ile83Thrfs*23) Maternal (confirmed) - likely pathogenic g.69881443del g.68121686del 248delT - MYPN_000001 not in 800 control chromosomes PubMed: Duboscq-Bidot 2008 - - Germline - - BccI- - - DNA SEQ - - CMD 18006477-FamAIII2 PubMed: Duboscq-Bidot 2008 3-generation family, 2 affecteds, 2 unaffected carriers M - France European 20y - - - 1 Johan den Dunnen
+?/. 2 c.248del r.(?) p.(Ile83Thrfs*23) Paternal (confirmed) - likely pathogenic g.69881443del g.68121686del 248delT - MYPN_000001 not in 800 control chromosomes PubMed: Duboscq-Bidot 2008 - - Germline - - BccI- - - DNA SEQ - - ? 18006477-FamAIII4 PubMed: Duboscq-Bidot 2008 3-generation family, 2 affecteds, 2 unaffected carriers M - France European >37y - - - 1 Johan den Dunnen
?/. - c.251A>G r.(?) p.(Asn84Ser) Unknown - VUS g.69881446A>G g.68121689A>G MYPN(NM_032578.3):c.251A>G (p.N84S), MYPN(NM_032578.4):c.251A>G (p.N84S) - MYPN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251A>G r.(?) p.(Asn84Ser) Unknown - VUS g.69881446A>G g.68121689A>G MYPN(NM_032578.3):c.251A>G (p.N84S), MYPN(NM_032578.4):c.251A>G (p.N84S) - MYPN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251A>G r.(?) p.(Asn84Ser) Unknown - VUS g.69881446A>G g.68121689A>G MYPN(NM_032578.3):c.251A>G (p.N84S), MYPN(NM_032578.4):c.251A>G (p.N84S) - MYPN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259C>G r.(?) p.(Pro87Ala) Unknown - likely benign g.69881454C>G g.68121697C>G MYPN(NM_032578.3):c.259C>G (p.P87A), MYPN(NM_032578.4):c.259C>G (p.P87A) - MYPN_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259C>G r.(?) p.(Pro87Ala) Unknown - likely benign g.69881454C>G g.68121697C>G MYPN(NM_032578.3):c.259C>G (p.P87A), MYPN(NM_032578.4):c.259C>G (p.P87A) - MYPN_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285A>T r.(?) p.(Gln95His) Unknown - likely benign g.69881480A>T g.68121723A>T MYPN(NM_032578.3):c.285A>T (p.Q95H) - MYPN_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312G>A r.(?) p.(Gln104=) Unknown - likely benign g.69881507G>A g.68121750G>A MYPN(NM_032578.3):c.312G>A (p.Q104=) - MYPN_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326C>T r.(?) p.(Pro109Leu) Unknown - likely benign g.69881521C>T g.68121764C>T - - MYPN_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>G r.(?) p.(Ser112Gly) Unknown - VUS g.69881529A>G g.68121772A>G MYPN(NM_032578.3):c.334A>G (p.S112G) - MYPN_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342G>C r.(?) p.(Glu114Asp) Unknown - VUS g.69881537G>C g.68121780G>C MYPN(NM_032578.4):c.342G>C (p.E114D) - MYPN_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395C>T r.(?) p.(Pro132Leu) Unknown - likely benign g.69881590C>T g.68121833C>T MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L) - MYPN_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395C>T r.(?) p.(Pro132Leu) Unknown - likely benign g.69881590C>T g.68121833C>T MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L) - MYPN_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395C>T r.(?) p.(Pro132Leu) Unknown - VUS g.69881590C>T g.68121833C>T MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L) - MYPN_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395C>T r.(?) p.(Pro132Leu) Unknown - likely benign g.69881590C>T g.68121833C>T MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L) - MYPN_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395C>T r.(?) p.(Pro132Leu) Unknown - likely benign g.69881590C>T g.68121833C>T MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L) - MYPN_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420T>C r.(?) p.(Tyr140=) Unknown - benign g.69881615T>C g.68121858T>C MYPN(NM_032578.4):c.420T>C (p.Y140=) - MYPN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.420T>C r.(?) p.(=) Unknown - benign g.69881615T>C g.68121858T>C T907C (Y40Y) - MYPN_000013 - PubMed: Duboscq-Bidot 2008 - - Germline - <0.01 - - - DNA SEQ - - ? 18006477-c PubMed: Duboscq-Bidot 2008 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.444dup r.(?) p.(Val149SerfsTer5) Unknown - likely pathogenic g.69881639dup g.68121882dup MYPN(NM_001256267.1):c.444dupA (p.(Val149fs)), MYPN(NM_032578.4):c.444dupA (p.V149Sfs*5) - MYPN_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.444dup r.(?) p.(Val149SerfsTer5) Unknown - VUS g.69881639dup g.68121882dup MYPN(NM_001256267.1):c.444dupA (p.(Val149fs)), MYPN(NM_032578.4):c.444dupA (p.V149Sfs*5) - MYPN_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.444dup r.(?) p.(Val149SerfsTer5) Unknown - VUS g.69881639dup - MYPN(NM_001256267.1):c.444dupA (p.(Val149fs)), MYPN(NM_032578.4):c.444dupA (p.V149Sfs*5) - MYPN_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.458A>G r.(?) p.(Lys153Arg) Parent #1 - likely pathogenic g.69881653A>G g.68121896A>G - - MYPN_000024 - PubMed: Purevjav 2012 - - Germline - - - - - DNA DHPLC, SEQ - - CMH 22286171-PatII PubMed: Purevjav 2012 - F - Japan Asian >53y - - - 1 Julia Lopez
?/. - c.459G>T r.(?) p.(Lys153Asn) Unknown - VUS g.69881654G>T g.68121897G>T MYPN(NM_032578.4):c.459G>T (p.K153N) - MYPN_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.465C>A r.(?) p.(Ala155=) Unknown - benign g.69881660C>A g.68121903C>A MYPN(NM_032578.3):c.465C>A (p.A155=), MYPN(NM_032578.4):c.465C>A (p.A155=) - MYPN_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>A r.(?) p.(Ala155=) Unknown - likely benign g.69881660C>A g.68121903C>A MYPN(NM_032578.3):c.465C>A (p.A155=), MYPN(NM_032578.4):c.465C>A (p.A155=) - MYPN_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.465C>G r.(?) p.(=) Parent #1 - likely benign g.69881660C>G g.68121903C>G C>G (A155A) - MYPN_000037 - PubMed: Purevjav 2012 - rs142867001 Germline - - - - - DNA DHPLC - - ? 22286171-cons PubMed: Purevjav 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.465C>G r.(?) p.(Ala155=) Unknown - benign g.69881660C>G g.68121903C>G MYPN(NM_032578.4):c.465C>G (p.A155=) - MYPN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>T r.(?) p.(Ala155=) Unknown - likely benign g.69881660C>T g.68121903C>T MYPN(NM_032578.3):c.465C>T (p.A155=) - MYPN_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595_598del r.(?) p.(Phe199GlnfsTer25) Unknown - likely benign g.69881790_69881793del g.68122033_68122036del MYPN(NM_032578.4):c.595_598delTTCT (p.F199Qfs*25) - MYPN_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>T r.(?) p.(Phe199=) Unknown - likely benign g.69881792C>T g.68122035C>T MYPN(NM_032578.3):c.597C>T (p.F199=) - MYPN_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602A>C r.(?) p.(Asp201Ala) Unknown - likely benign g.69881797A>C g.68122040A>C - - MYPN_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625T>G r.(?) p.(Ser209Ala) Unknown - VUS g.69881820T>G - MYPN(NM_032578.4):c.625T>G (p.S209A) - MYPN_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.637A>G r.(?) p.(Ile213Val) Parent #1 - VUS g.69881832A>G g.68122075A>G - - MYPN_000032 - PubMed: Purevjav 2012 - - Germline - - - - - DNA DHPLC, SEQ - - CMD 22286171-PatMC31379 PubMed: Purevjav 2012 sibling of JC31380 F - - white >35y - - - 1 Julia Lopez
?/. - c.649G>A r.(?) p.(Ala217Thr) Unknown - VUS g.69881844G>A g.68122087G>A MYPN(NM_032578.4):c.649G>A (p.A217T) - MYPN_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.650C>A r.(?) p.(Ala217Glu) Parent #1 - likely benign g.69881845C>A g.68122088C>A - - MYPN_000025 - PubMed: Purevjav 2012 - - Germline - - - - - DNA DHPLC, SEQ - - CMH 22286171-PatIII PubMed: Purevjav 2012 - F - Japan Asian >44y - - - 1 Julia Lopez
-/. - c.660G>A r.(?) p.(Arg220=) Unknown - benign g.69881855G>A g.68122098G>A MYPN(NM_032578.3):c.660G>A (p.R220=), MYPN(NM_032578.4):c.660G>A (p.R220=) - MYPN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660G>A r.(?) p.(Arg220=) Unknown - likely benign g.69881855G>A g.68122098G>A MYPN(NM_032578.3):c.660G>A (p.R220=), MYPN(NM_032578.4):c.660G>A (p.R220=) - MYPN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660G>A r.(?) p.(Arg220=) Unknown - likely benign g.69881855G>A g.68122098G>A MYPN(NM_032578.3):c.660G>A (p.R220=), MYPN(NM_032578.4):c.660G>A (p.R220=) - MYPN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.662A>T r.(?) p.(Asp221Val) Unknown - likely pathogenic g.69881857A>T g.68122100A>T - - MYPN_000061 - PubMed: Hertz 2015, Journal: Hertz 2015 - - Germline - - - - - DNA SEQ-NG-I Blood - SIDS - PubMed: Hertz 2015, Journal: Hertz 2015 - F ? Denmark Denmark 00y01m - - - 1 Christin Hertz
?/. - c.662A>T r.(?) p.(Asp221Val) Unknown - VUS g.69881857A>T g.68122100A>T MYPN(NM_032578.3):c.662A>T (p.D221V), MYPN(NM_032578.4):c.662A>T (p.D221V) - MYPN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662A>T r.(?) p.(Asp221Val) Unknown - likely benign g.69881857A>T g.68122100A>T MYPN(NM_032578.3):c.662A>T (p.D221V), MYPN(NM_032578.4):c.662A>T (p.D221V) - MYPN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700A>G r.(?) p.(Lys234Glu) Unknown - likely benign g.69881895A>G g.68122138A>G - - MYPN_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.725C>T r.(?) p.(Ala242Val) Unknown - likely benign g.69881920C>T g.68122163C>T MYPN(NM_032578.3):c.725C>T (p.A242V) - MYPN_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.734C>G r.(?) p.(Ala245Gly) Unknown - likely benign g.69881929C>G g.68122172C>G MYPN(NM_032578.3):c.734C>G (p.A245G), MYPN(NM_032578.4):c.734C>G (p.A245G) - MYPN_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.734C>G r.(?) p.(Ala245Gly) Unknown - likely benign g.69881929C>G g.68122172C>G MYPN(NM_032578.3):c.734C>G (p.A245G), MYPN(NM_032578.4):c.734C>G (p.A245G) - MYPN_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.734C>G r.(?) p.(Ala245Gly) Unknown - likely benign g.69881929C>G g.68122172C>G MYPN(NM_032578.3):c.734C>G (p.A245G), MYPN(NM_032578.4):c.734C>G (p.A245G) - MYPN_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742G>A r.(?) p.(Gly248Arg) Unknown - VUS g.69881937G>A g.68122180G>A MYPN(NM_032578.4):c.742G>A (p.G248R) - MYPN_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757G>C r.(?) p.(Gly253Arg) Unknown - VUS g.69881952G>C g.68122195G>C MYPN(NM_032578.3):c.757G>C (p.G253R), MYPN(NM_032578.4):c.757G>C (p.G253R) - MYPN_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757G>C r.(?) p.(Gly253Arg) Unknown - likely benign g.69881952G>C g.68122195G>C MYPN(NM_032578.3):c.757G>C (p.G253R), MYPN(NM_032578.4):c.757G>C (p.G253R) - MYPN_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757G>C r.(?) p.(Gly253Arg) Unknown - VUS g.69881952G>C g.68122195G>C MYPN(NM_032578.3):c.757G>C (p.G253R), MYPN(NM_032578.4):c.757G>C (p.G253R) - MYPN_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.802C>T r.(?) p.(Pro268Ser) Unknown - benign g.69881997C>T - MYPN(NM_032578.3):c.802C>T (p.P268S), MYPN(NM_032578.4):c.802C>T (p.P268S) - MYPN_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802C>T r.(?) p.(Pro268Ser) Unknown - likely benign g.69881997C>T - MYPN(NM_032578.3):c.802C>T (p.P268S), MYPN(NM_032578.4):c.802C>T (p.P268S) - MYPN_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.806C>T r.(?) p.(Pro269Leu) Unknown - likely pathogenic g.69882001C>T g.68122244C>T - - MYPN_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808C>T r.(?) p.(Arg270Trp) Unknown - VUS g.69882003C>T g.68122246C>T - - MYPN_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809G>C r.(?) p.(Arg270Pro) Unknown - likely benign g.69882004G>C - MYPN(NM_032578.3):c.809G>C (p.(Arg270Pro)) - MYPN_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.843A>G r.(?) p.(Pro281=) Unknown - benign g.69882038A>G g.68122281A>G MYPN(NM_032578.3):c.843A>G (p.P281=), MYPN(NM_032578.4):c.843A>G (p.P281=) - MYPN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.843A>G r.(?) p.(Pro281=) Unknown - benign g.69882038A>G g.68122281A>G MYPN(NM_032578.3):c.843A>G (p.P281=), MYPN(NM_032578.4):c.843A>G (p.P281=) - MYPN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.843A>G r.(?) p.(=) Parent #1 - likely benign g.69882038A>G g.68122281A>G A>G (P281P) - MYPN_000038 - PubMed: Purevjav 2012 - rs74143022 Germline - - - - - DNA DHPLC - - ? 22286171-cons PubMed: Purevjav 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.843A>G r.(?) p.(Pro281=) Unknown - benign g.69882038A>G g.68122281A>G MYPN(NM_032578.3):c.843A>G (p.P281=), MYPN(NM_032578.4):c.843A>G (p.P281=) - MYPN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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