All variants in the ISPD gene

This database is one from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001101426.3 transcript reference sequence.

236 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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 c.1A>T r.(?) p.0? - pathogenic g.16460947T>A g.16421322T>A M1? - ISPD_000097 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. - c.5A>T r.(?) p.(Glu2Val) - likely pathogenic (recessive) g.16460943T>A g.16421318T>A - - ISPD_000109 - - - - Germline - - - - - Danyu Song
+/. - c.5A>T r.(?) p.(Glu2Val) - pathogenic (recessive) g.16460943T>A g.16421318T>A - - ISPD_000109 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 c.28A>T r.(?) p.(Arg10Trp) - VUS g.16460920T>A g.16421295T>A - - ISPD_000096 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.44G>T r.(?) p.(Gly15Val) - VUS g.16460904C>A g.16421279C>A - - ISPD_000095 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.44G>T r.(?) p.(Gly15Val) - VUS g.16460904C>A g.16421279C>A - - ISPD_000095 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. - c.44G>T r.(?) p.(Gly15Val) - likely benign g.16460904C>A g.16421279C>A ISPD(NM_001101426.3):c.44G>T (p.G15V) - ISPD_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.53dup r.(?) p.(Ser19fs) - pathogenic g.16460895dup g.16421270dup - - ISPD_000007 not in 3712 control chromosomes PubMed: Roscioli 2012 - - Germline - 1/94 WWS families - - - Johan den Dunnen
-/. - c.55A>C r.(?) p.(Ser19Arg) - benign g.16460893T>G g.16421268T>G CRPPA(NM_001101426.4):c.55A>C (p.S19R), ISPD(NM_001101426.3):c.55A>C (p.S19R) - ISPD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.55A>C r.(?) p.(Ser19Arg) - benign g.16460893T>G g.16421268T>G CRPPA(NM_001101426.4):c.55A>C (p.S19R), ISPD(NM_001101426.3):c.55A>C (p.S19R) - ISPD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.55A>C r.(?) p.(Ser19Arg) - benign g.16460893T>G g.16421268T>G CRPPA(NM_001101426.4):c.55A>C (p.S19R), ISPD(NM_001101426.3):c.55A>C (p.S19R) - ISPD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.55A>C r.(?) p.(Ser19Arg) - benign g.16460893T>G g.16421268T>G CRPPA(NM_001101426.4):c.55A>C (p.S19R), ISPD(NM_001101426.3):c.55A>C (p.S19R) - ISPD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.67G>T r.(?) p.(Gly23Cys) - VUS g.16460881C>A g.16421256C>A - - ISPD_000094 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.67G>T r.(?) p.(Gly23Cys) - VUS g.16460881C>A g.16421256C>A - - ISPD_000094 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.77A>C r.(?) p.(His26Pro) - VUS g.16460871T>G g.16421246T>G - - ISPD_000093 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.79A>C r.(?) p.(Thr27Pro) - VUS g.16460869T>G g.16421244T>G - - ISPD_000092 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.79A>C r.(?) p.(Thr27Pro) - VUS g.16460869T>G g.16421244T>G - - ISPD_000092 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.79A>C r.(?) p.(Thr27Pro) - VUS g.16460869T>G g.16421244T>G - - ISPD_000092 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. - c.108C>T r.(?) p.(Ala36=) - likely benign g.16460840G>A g.16421215G>A ISPD(NM_001101426.3):c.108C>T (p.A36=) - ISPD_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.115G>A r.(?) p.(Glu39Lys) - VUS g.16460833C>T g.16421208C>T ISPD(NM_001101426.3):c.115G>A (p.E39K) - ISPD_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.123G>C r.(?) p.(=) - VUS g.16460825C>G g.16421200C>G - - ISPD_000091 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.139G>A r.(?) p.(Val47Met) - VUS g.16460809C>T g.16421184C>T - - ISPD_000090 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 c.153G>T r.(?) p.(Leu51Phe) ACMG likely pathogenic (recessive) g.16460795C>A g.16421170C>A - - ISPD_000118 ACMG PM2, PM3, PP3, PP4 - - - Germline - - - - - Svetlana Gorokhova
?/. 1 c.161G>T r.(?) p.(Gly54Val) - VUS g.16460787C>A g.16421162C>A - - ISPD_000089 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. - c.165dup r.(?) p.(Cys56Valfs*60) - likely pathogenic (recessive) g.16460788dup g.16421163dup - - ISPD_000115 - PubMed: Johnson 2018 - - Germline - - - - - Johan den Dunnen
+/? 1 c.184del r.(?) p.(Val62Serfs*29) - pathogenic (recessive) g.16460768del g.16421143del 184delG - ISPD_000029 - - - - Germline - - - - - Tom Winder
+/. 1 c.184del r.(?) p.(Val62Serfs*29) - pathogenic g.16460768del g.16421143del 184delG - ISPD_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.191C>T r.(?) p.(Thr64Ile) - VUS g.16460757G>A g.16421132G>A - - ISPD_000087 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.193C>T r.(?) p.(Pro65Ser) - VUS g.16460755G>A g.16421130G>A - - ISPD_000086 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.200A>C r.(?) p.(Gln67Pro) - VUS g.16460748T>G g.16421123T>G - - ISPD_000085 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.200A>C r.(?) p.(Gln67Pro) - VUS g.16460748T>G g.16421123T>G - - ISPD_000085 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.200A>C r.(?) p.(Gln67Pro) - VUS g.16460748T>G g.16421123T>G - - ISPD_000085 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.200A>C r.(?) p.(Gln67Pro) - VUS g.16460748T>G g.16421123T>G - - ISPD_000085 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.209C>G r.(?) p.(Pro70Arg) - VUS g.16460739G>C g.16421114G>C - - ISPD_000084 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.220A>G r.(?) p.(Arg74Gly) - VUS g.16460728T>C g.16421103T>C - - ISPD_000083 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.221G>C r.(?) p.(Arg74Thr) - VUS g.16460727C>G g.16421102C>G - - ISPD_000082 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.239C>A r.(?) p.(Thr80Asn) - VUS g.16460709G>T g.16421084G>T - - ISPD_000081 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 c.248C>T r.(?) p.(Ala83Val) - VUS g.16460700G>A g.16421075G>A - - ISPD_000080 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/? 1 c.256A>T r.(?) p.(Arg86*) - pathogenic g.16460692T>A g.16421067T>A - - ISPD_000024 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/? 1 c.256A>T r.(?) p.(Arg86*) - pathogenic g.16460692T>A g.16421067T>A - - ISPD_000024 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.257+2T>C r.spl? p.? - pathogenic g.16460689A>G g.16421064A>G - - ISPD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1i c.257+2T>G r.spl p.? - pathogenic g.16460689A>C g.16421064A>C - - ISPD_000025 de novo in patient PubMed: Vuillaumier-Barrot 2012 - - De novo - - - - - Johan den Dunnen
+/. 1i c.258-1G>C r.spl p.? - pathogenic g.16445963C>G g.16406338C>G - - ISPD_000079 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. - c.258-1G>C r.spl p.? - likely pathogenic (recessive) g.16445963C>G g.16406338C>G - - ISPD_000079 variant not associated with phenotype PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen
?/. 2 c.277A>G r.(?) p.(Ile93Val) - VUS g.16445943T>C g.16406318T>C - - ISPD_000078 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. - c.277A>G r.(?) p.(Ile93Val) - VUS g.16445943T>C - CRPPA(NM_001101426.3):c.277A>G (p.I93V) - ISPD_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 c.277_279del r.(?) p.(Ile93del) - pathogenic g.16445941_16445943del g.16406316_16406318del 277_279delATT - ISPD_000013 complementation assay PubMed: Willer 2012, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/? 2 c.277_279del r.(?) p.(Ile93del) - pathogenic g.16445941_16445943del g.16406316_16406318del 277_279delATT - ISPD_000013 complementation assay PubMed: Willer 2012, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
?/. 2 c.277_279del r.(?) p.(Ile93del) - VUS g.16445941_16445943del g.16406316_16406318del 277_279delATT - ISPD_000013 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 c.277_279del r.(?) p.(Ile93del) - VUS g.16445941_16445943del g.16406316_16406318del 277_279delATT - ISPD_000013 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. - c.320G>T r.(?) p.(Ser107Ile) - VUS g.16445900C>A g.16406275C>A CRPPA(NM_001101426.4):c.320G>T (p.S107I) - ISPD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 c.320G>T r.(?) p.(Ser107Ile) - VUS g.16445900C>A g.16406275C>A - - ISPD_000044 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. - c.340C>G r.(?) p.(His114Asp) - likely pathogenic (recessive) g.16445880G>C g.16406255G>C - - ISPD_000108 - - - - Germline - - - - - Danyu Song
+/. - c.340C>G r.(?) p.(His114Asp) - pathogenic (recessive) g.16445880G>C g.16406255G>C - - ISPD_000108 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/? 2 c.364G>C r.(?) p.(Ala122Pro) - pathogenic g.16445856C>G g.16406231C>G - - ISPD_000009 not in 3712 control chromosomes PubMed: Roscioli 2012, OMIM:var0007 - - Germline - 1/94 WWS families - - - Johan den Dunnen
+?/? 2 c.375_381del r.(?) p.(Arg126Glyfs*7) - likely pathogenic g.16445841_16445847del g.16406216_16406222del - - ISPD_000018 - - - - Germline - - - - - Tom Winder
?/. - c.376C>T r.(?) p.(Arg126Cys) - VUS g.16445844G>A g.16406219G>A ISPD(NM_001101417.3):c.376C>T (p.(Arg126Cys)) - ISPD_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 c.377G>A r.(?) p.(Arg126His) - pathogenic g.16445843C>T g.16406218C>T - - ISPD_000008 not in 3712 control chromosomes PubMed: Roscioli 2012 - - Germline - 1/94 WWS families - - - Johan den Dunnen
-?/. - c.407C>T r.(?) p.(Ala136Val) - likely benign g.16445813G>A g.16406188G>A CRPPA(NM_001101426.4):c.407C>T (p.A136V), ISPD(NM_001101417.3):c.407C>T (p.(Ala136Val)), ISPD(NM_001101426.3):c.407C>T (p.A136V) - ISPD_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.407C>T r.(?) p.(Ala136Val) - likely benign g.16445813G>A g.16406188G>A CRPPA(NM_001101426.4):c.407C>T (p.A136V), ISPD(NM_001101417.3):c.407C>T (p.(Ala136Val)), ISPD(NM_001101426.3):c.407C>T (p.A136V) - ISPD_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.407C>T r.(?) p.(Ala136Val) - VUS g.16445813G>A g.16406188G>A CRPPA(NM_001101426.4):c.407C>T (p.A136V), ISPD(NM_001101417.3):c.407C>T (p.(Ala136Val)), ISPD(NM_001101426.3):c.407C>T (p.A136V) - ISPD_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.407C>T r.(?) p.(Ala136Val) - likely benign g.16445813G>A g.16406188G>A CRPPA(NM_001101426.4):c.407C>T (p.A136V), ISPD(NM_001101417.3):c.407C>T (p.(Ala136Val)), ISPD(NM_001101426.3):c.407C>T (p.A136V) - ISPD_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.407C>T r.(?) p.(Ala136Val) - likely benign g.16445813G>A g.16406188G>A - - ISPD_000101 54 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61734789 Germline - 54/2795 individuals - - - Mohammed Faruq
?/. 2 c.425T>A r.(?) p.(Ile142Asn) - VUS g.16445795A>T g.16406170A>T - - ISPD_000077 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. - c.457A>T r.(?) p.(Ile153Phe) - pathogenic (recessive) g.16445763T>A g.16406138T>A - - ISPD_000125 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+?/. - c.464A>G r.(?) p.(His155Arg) - likely pathogenic (recessive) g.16445756T>C g.16406131T>C - - ISPD_000107 - - - - Germline - - - - - Danyu Song
+/. - c.464A>G r.(?) p.(His155Arg) - pathogenic (recessive) g.16445756T>C g.16406131T>C - - ISPD_000107 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/? 2 c.466G>A r.(?) p.(.Asp156Asn) - pathogenic g.16445754C>T g.16406129C>T - - ISPD_000022 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/? 2 c.466G>A r.(?) p.(.Asp156Asn) - pathogenic g.16445754C>T g.16406129C>T - - ISPD_000022 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/? 2 c.466G>A r.(?) p.(.Asp156Asn) - pathogenic g.16445754C>T g.16406129C>T - - ISPD_000022 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+?/. - c.505A>T r.(?) p.(Lys169*) - likely pathogenic (recessive) g.16445715T>A g.16406090T>A - - ISPD_000112 no variant 2nd allele PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen
+/. - c.505A>T r.(?) p.(Lys169Ter) - pathogenic (recessive) g.16445715T>A g.16406090T>A - - ISPD_000112 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 2 c.532G>A r.(?) p.(Gly178Arg) - VUS g.16445688C>T g.16406063C>T - - ISPD_000076 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 c.532G>A r.(?) p.(Gly178Arg) - VUS g.16445688C>T g.16406063C>T - - ISPD_000076 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 c.532G>A r.(?) p.(Gly178Arg) - VUS g.16445688C>T g.16406063C>T - - ISPD_000076 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/? 2i_6i c.(535-?_933+?)del r.del p.? - pathogenic g.(16298638_16317753)_(16415867_16445685)del - del at least ex3-6 - ISPD_000021 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/? 2i_6i c.(535-?_933+?)del r.del p.? - pathogenic g.(16298638_16317753)_(16415867_16445685)del - del at least ex3-6 - ISPD_000021 linkage analysis, exome sequencing PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
-/. - c.534+13T>A r.(=) p.(=) - benign g.16445673A>T g.16406048A>T CRPPA(NM_001101426.4):c.534+13T>A, ISPD(NM_001101426.3):c.534+13T>A - ISPD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.534+13T>A r.(=) p.(=) - benign g.16445673A>T g.16406048A>T CRPPA(NM_001101426.4):c.534+13T>A, ISPD(NM_001101426.3):c.534+13T>A - ISPD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.534+13T>A r.(=) p.(=) - benign g.16445673A>T g.16406048A>T CRPPA(NM_001101426.4):c.534+13T>A, ISPD(NM_001101426.3):c.534+13T>A - ISPD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.534+13T>A r.(=) p.(=) - benign g.16445673A>T g.16406048A>T CRPPA(NM_001101426.4):c.534+13T>A, ISPD(NM_001101426.3):c.534+13T>A - ISPD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2i_5i c.535-?_835+?del r.(del) p.(fs*?) - pathogenic g.16341046_16415866del g.16301421_16376241del - - ISPD_000004 not in 3712 control chromosomes Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Roscioli 2012 - - Germline - 1/94 WWS families - - - Johan den Dunnen
+/? 2i_5i c.535-?_835+?del r.(del) p.(fs*?) - pathogenic g.16341046_16415866del g.16301421_16376241del - - ISPD_000004 not in 3712 control chromosomes Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Roscioli 2012 - - Germline - 1/94 WWS families - - - Johan den Dunnen
+?/. 3 c.535del r.(?) p.(Ala179Glnfs*21) ACMG likely pathogenic (recessive) g.16415867del g.16376242del 535delG - ISPD_000117 ACMG PVS1, PM2, PP4 - - - Germline - - - - - Svetlana Gorokhova
+/? 2i_3i c.535+(14092_?)_684+(9445_14527)del r.(?) p.(del) - pathogenic g.(16401190_16406272)_(16415866_16401774)del - - - ISPD_000016 homozygosity mapping; complementation assay; deletion incl. rs12699786, rs12671637, rs10237809, (excl. rs7789712, rs11972185) PubMed: Willer 2012, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/? 2i_3i c.535+(14092_?)_684+(9445_14527)del r.(?) p.(del) - pathogenic g.(16401190_16406272)_(16415866_16401774)del - - - ISPD_000016 homozygosity mapping; complementation assay; deletion incl. rs12699786, rs12671637, rs10237809 (excl. rs7789712, rs11972185) PubMed: Willer 2012, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/. - c.538G>A r.(?) p.(Ala180Thr) - pathogenic (recessive) g.16415863C>T g.16376238C>T - - ISPD_000124 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+?/. - c.550C>G r.(?) p.(Arg184Gly) - likely pathogenic g.16415851G>C g.16376226G>C - - ISPD_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 3 c.550C>T r.(?) p.(Arg184*) - pathogenic g.16415851G>A g.16376226G>A - - ISPD_000017 homozygosity mapping; complementation assay PubMed: Willer 2012 - - Germline - - - - - Johan den Dunnen
+/? 3 c.550C>T r.(?) p.(Arg184*) - pathogenic g.16415851G>A g.16376226G>A - - ISPD_000017 homozygosity mapping; complementation assay PubMed: Willer 2012 - - Germline - - - - - Johan den Dunnen
?/. 3 c.551G>A r.(?) p.(Arg184Gln) - VUS g.16415850C>T g.16376225C>T - - ISPD_000075 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 3 c.560T>C r.(?) p.(Val187Ala) - VUS g.16415841A>G g.16376216A>G - - ISPD_000074 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 3 c.602A>T r.(?) p.(Tyr201Phe) - VUS g.16415799T>A g.16376174T>A - - ISPD_000073 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. - c.605C>T r.(?) p.(Ser202Leu) - likely pathogenic (recessive) g.16415796G>A g.16376171G>A - - ISPD_000114 - PubMed: Johnson 2018 - - Germline - - - - - Johan den Dunnen
?/? 3 c.614G>A r.(?) p.(Arg205His) - VUS g.16415787C>T g.16376162C>T - - ISPD_000019 - - - - Germline - - - - - Tom Winder
?/. - c.626G>C r.(?) p.(Arg209Thr) - VUS g.16415775C>G g.16376150C>G ISPD(NM_001101426.3):c.626G>C (p.R209T) - ISPD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.636A>C r.(?) p.(Glu212Asp) - VUS g.16415765T>G g.16376140T>G - - ISPD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 c.636A>C r.(?) p.(Glu212Asp) - VUS g.16415765T>G g.16376140T>G - - ISPD_000050 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/? 3 c.638T>G r.(?) p.(Met213Arg) - pathogenic g.16415763A>C g.16376138A>C - - ISPD_000020 linkage analysis, exome sequencing PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/? 3 c.638T>G r.(?) p.(Met213Arg) - pathogenic g.16415763A>C g.16376138A>C - - ISPD_000020 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
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