Unique 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.

123 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 1 c.1A>T r.(?) p.0? - pathogenic g.16460947T>A g.16421322T>A M1? - ISPD_000097 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 2 - c.5A>T r.(?) p.(Glu2Val) - likely pathogenic (recessive), pathogenic (recessive) g.16460943T>A g.16421318T>A - - ISPD_000109 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Danyu Song
?/. 1 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
-?/., ?/. 3 1 c.44G>T r.(?) p.(Gly15Val) - likely benign, VUS g.16460904C>A g.16421279C>A ISPD(NM_001101426.3):c.44G>T (p.G15V) - ISPD_000095 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/? 1 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
-/. 4 - 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, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 1 c.67G>T r.(?) p.(Gly23Cys) - VUS g.16460881C>A g.16421256C>A - - ISPD_000094 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 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
?/. 3 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.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
?/. 1 - 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 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 1 c.139G>A r.(?) p.(Val47Met) - VUS g.16460809C>T g.16421184C>T - - ISPD_000090 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 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 1 c.161G>T r.(?) p.(Gly54Val) - VUS g.16460787C>A g.16421162C>A - - ISPD_000089 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.165dup r.(?) p.(Cys56Valfs*60) - likely pathogenic (recessive) g.16460788dup g.16421163dup - - ISPD_000115 - PubMed: Johnson 2018 - - Germline - - - - - Johan den Dunnen
+/., +/? 2 1 c.184del r.(?) p.(Val62Serfs*29) - pathogenic, pathogenic (recessive) g.16460768del g.16421143del 184delG - ISPD_000029 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
?/. 1 1 c.191C>T r.(?) p.(Thr64Ile) - VUS g.16460757G>A g.16421132G>A - - ISPD_000087 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.193C>T r.(?) p.(Pro65Ser) - VUS g.16460755G>A g.16421130G>A - - ISPD_000086 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 4 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 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 1 c.220A>G r.(?) p.(Arg74Gly) - VUS g.16460728T>C g.16421103T>C - - ISPD_000083 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.221G>C r.(?) p.(Arg74Thr) - VUS g.16460727C>G g.16421102C>G - - ISPD_000082 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 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 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
+/? 2 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.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
+/? 1 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
+/., +?/. 2 1i c.258-1G>C r.spl p.? - likely pathogenic (recessive), pathogenic g.16445963C>G g.16406338C>G - - ISPD_000079 variant not associated with phenotype PubMed: Nallamilli 2018, PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen, Madhuri Hegde
?/. 2 2 c.277A>G r.(?) p.(Ile93Val) - VUS g.16445943T>C g.16406318T>C CRPPA(NM_001101426.3):c.277A>G (p.I93V) - ISPD_000078 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/?, ?/. 4 2 c.277_279del r.(?) p.(Ile93del) - pathogenic, VUS g.16445941_16445943del g.16406316_16406318del 277_279delATT - ISPD_000013 complementation assay PubMed: Nallamilli 2018, PubMed: Willer 2012, OMIM:var0004 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
?/. 2 2 c.320G>T r.(?) p.(Ser107Ile) - VUS g.16445900C>A g.16406275C>A CRPPA(NM_001101426.4):c.320G>T (p.S107I) - ISPD_000044 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_AMC
+/. 2 - c.340C>G r.(?) p.(His114Asp) - likely pathogenic (recessive), pathogenic (recessive) g.16445880G>C g.16406255G>C - - ISPD_000108 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Danyu Song
+/? 1 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
+?/? 1 2 c.375_381del r.(?) p.(Arg126Glyfs*7) - likely pathogenic g.16445841_16445847del g.16406216_16406222del - - ISPD_000018 - - - - Germline - - - - - Tom Winder
?/. 1 - 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
+/? 1 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
-?/., ?/. 5 - c.407C>T r.(?) p.(Ala136Val) - likely benign, VUS g.16445813G>A g.16406188G>A 1 more item - ISPD_000101 54 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61734789 CLASSIFICATION record, Germline - 54/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
?/. 1 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
+/. 1 - c.457A>T r.(?) p.(Ile153Phe) - pathogenic (recessive) g.16445763T>A g.16406138T>A - - ISPD_000125 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - c.464A>G r.(?) p.(His155Arg) - likely pathogenic (recessive), pathogenic (recessive) g.16445756T>C g.16406131T>C - - ISPD_000107 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Danyu Song
+/? 3 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.505A>T r.(?) p.(Lys169*), p.(Lys169Ter) - likely pathogenic (recessive), pathogenic (recessive) g.16445715T>A g.16406090T>A - - ISPD_000112 no variant 2nd allele PubMed: Park 2017, PubMed: Song 2021 - - Germline - 1/209 cases - - - Johan den Dunnen
?/. 3 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 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
-/. 4 - 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, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/? 2 2i_5i c.535-?_835+?del r.(del) p.(fs*?) - pathogenic g.16341046_16415866del g.16301421_16376241del - - ISPD_000004 1 more item PubMed: Roscioli 2012 - - Germline - 1/94 WWS families - - - Johan den Dunnen
+?/. 1 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
+/? 2 2i_3i c.535+(14092_?)_684+(9445_14527)del r.(?) p.(del) - pathogenic g.(16401190_16406272)_(16415866_16401774)del - - - ISPD_000016 2 more items PubMed: Willer 2012, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.538G>A r.(?) p.(Ala180Thr) - pathogenic (recessive) g.16415863C>T g.16376238C>T - - ISPD_000124 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+?/. 1 - 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
+/? 2 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
?/. 1 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
?/. 1 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
?/. 1 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
+?/. 1 - c.605C>T r.(?) p.(Ser202Leu) - likely pathogenic (recessive) g.16415796G>A g.16376171G>A - - ISPD_000114 - PubMed: Johnson 2018 - - Germline - - - - - Johan den Dunnen
?/? 1 3 c.614G>A r.(?) p.(Arg205His) - VUS g.16415787C>T g.16376162C>T - - ISPD_000019 - - - - Germline - - - - - Tom Winder
?/. 1 - 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
?/. 2 3 c.636A>C r.(?) p.(Glu212Asp) - VUS g.16415765T>G g.16376140T>G - - ISPD_000050 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Nijmegen
+/? 2 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
?/. 1 3 c.640C>T r.(?) p.(Pro214Ser) - VUS g.16415761G>A g.16376136G>A - - ISPD_000072 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/? 1 3 c.643C>T r.(?) p.(Gln215*) - pathogenic g.16415758G>A g.16376133G>A - - ISPD_000011 complementation assay PubMed: Willer 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.645A>G r.(?) p.(Gln215=) - likely benign g.16415756T>C g.16376131T>C ISPD(NM_001101426.3):c.645A>G (p.Q215=) - ISPD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/?, +?/. 7 3 c.647C>A r.(?) p.(Ala216Asp) - likely pathogenic, pathogenic g.16415754G>T g.16376129G>T - - ISPD_000001 homozygosity mapping; not in 3712 control chromosomes, VKGL data sharing initiative Nederland PubMed: Roscioli 2012, OMIM:var0005 - - CLASSIFICATION record, Germline - 1/94 WWS families - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 - c.659A>T r.(?) p.(Asp220Val) - pathogenic (recessive) g.16415742T>A g.16376117T>A - - ISPD_000123 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/., +/? 3 3 c.676T>C r.(?) p.(Tyr226His) - pathogenic, pathogenic (recessive) g.16415725A>G g.16376100A>G - - ISPD_000027 - PubMed: Magri 2015, PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.679C>T r.(?) p.(Gln227Ter) - pathogenic g.16415722G>A g.16376097G>A ISPD(NM_001101426.3):c.679C>T (p.Q227*) - ISPD_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 3i c.685-22200G>A r.(?) p.(=) - VUS g.16370452C>T g.16330827C>T - - ISPD_000031 - - - - Germline - - - - - Yu Sun
-/., -?/. 3 - c.685-13_685-11dup r.(=) p.(=) - benign, likely benign g.16348277_16348279dup g.16308652_16308654dup 1 more item - ISPD_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/? 2 3i_6i c.685-?_933+?del r.del p.? - pathogenic g.(16298638_16317753)_(16348253_16415716)del - del ex4-6 - ISPD_000028 - PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 - c.712A>G r.(?) p.(Thr238Ala) - likely pathogenic (recessive), pathogenic (recessive) g.16348225T>C g.16308600T>C - - ISPD_000106 - Journal: Mastorodemos 2015, PubMed: Song 2021 - - Germline yes - - - - Johan den Dunnen, Danyu Song, Helen Latsoudis
+/?, ?/. 3 4 c.713C>T r.(?) p.(Thr238Ile) - pathogenic, VUS g.16348224G>A g.16308599G>A - - ISPD_000023 - PubMed: Nallamilli 2018, PubMed: Vuillaumier-Barrot 2012 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
-/. 2 - c.726A>G r.(?) p.(Gln242=) - benign g.16348211T>C g.16308586T>C CRPPA(NM_001101426.3):c.726A>G (p.Q242=), ISPD(NM_001101417.3):c.576A>G (p.(Gln192=)) - ISPD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., +/? 3 4 c.773C>A r.(?) p.(.Ser258*), p.(Ser258Ter) - pathogenic g.16348164G>T g.16308539G>T - - ISPD_000026 - PubMed: Vuillaumier-Barrot 2012 - rs1466219701 Germline, Unknown - - - - - Johan den Dunnen, MobiDetails
+/., +/? 4 4i c.789+2T>G r.spl p.? - pathogenic, pathogenic (recessive) g.16348146A>C g.16308521A>C - - ISPD_000012 complementation assay PubMed: Song 2021, PubMed: Willer 2012, OMIM:var0003 - - Germline - - - - - Johan den Dunnen, Danyu Song
-/., -?/. 3 - c.790-14T>C r.(=) p.(=) - benign, likely benign g.16341105A>G g.16301480A>G 1 more item - ISPD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/? 1 4i c.790-1G>C r.spl p.? - pathogenic g.16341092C>G g.16301467C>G - - ISPD_000030 - - - - Germline - - - - - Tom Winder
+/?, ?/. 2 5 c.802C>T r.(?) p.(Arg268*) - pathogenic, VUS g.16341079G>A g.16301454G>A - - ISPD_000010 not in 3712 control chromosomes PubMed: Nallamilli 2018, PubMed: Roscioli 2012, OMIM:var0008 - - Germline - 1/94 WWS families - - - Johan den Dunnen, Madhuri Hegde
?/. 3 5 c.808C>T r.(?) p.(Leu270Phe) - VUS g.16341073G>A g.16301448G>A - - ISPD_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/? 4 5 c.832A>T r.(?) p.(Lys278*) - pathogenic g.16341049T>A g.16301424T>A - - ISPD_000005 not in 3712 control chromosomes PubMed: Roscioli 2012, OMIM:var0006 - - Germline - 1/94 WWS families - - - Johan den Dunnen
-/. 1 - c.836-9del r.(=) p.(=) - benign g.16317870del g.16278245del CRPPA(NM_001101426.4):c.836-9delT - ISPD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.836-9dup r.(=) p.(=) - benign g.16317870dup g.16278245dup CRPPA(NM_001101426.3):c.836-9dupT, CRPPA(NM_001101426.4):c.836-9dupT - ISPD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 5i c.836-5T>G r.[836_933del,=] p.[Glu279Alafs*7,=] - pathogenic (recessive) g.16317856A>C g.16278231A>C - - ISPD_000116 - PubMed: Magri 2015 - - Germline - - - - - Johan den Dunnen
+/? 2 5i_8i c.836-?_1119+?del r.(del) p.(fs*?) - pathogenic g.16298015_16317851del g.16258390_16278226del - - ISPD_000003 1 more item PubMed: Roscioli 2012 - - Germline - 1/94 WWS families - - - Johan den Dunnen
+/. 2 5i_9i c.(835+1_836-1)_(1251+1_1252-1)del r.? p.? - pathogenic (recessive) g.(16131425_16255690)_(16317852_16341045)del g.(16091800_16216065)_(16278227_16301420)del del ex6-9 - ISPD_000121 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.839G>T r.(?) p.(Arg280Ile) - VUS g.16317848C>A g.16278223C>A - - ISPD_000070 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 6 c.881A>G r.(?) p.(Asp294Gly) - VUS g.16317806T>C g.16278181T>C - - ISPD_000069 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 6 c.894del r.(?) p.(Gly299Valfs*8) ACMG pathogenic g.16317793del g.16278168del 894delA - ISPD_000119 - - - - Germline yes - - - - Young Jun Ko
?/. 1 6 c.905T>C r.(?) p.(Leu302Pro) - VUS g.16317782A>G g.16278157A>G - - ISPD_000068 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 6 c.914T>G r.(?) p.(Val305Gly) - VUS g.16317773A>C g.16278148A>C - - ISPD_000067 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 - c.947C>A r.(?) p.(Thr316Lys) - likely benign g.16298624G>T g.16258999G>T ISPD(NM_001101417.3):c.797C>A (p.(Thr266Lys)), ISPD(NM_001101426.3):c.947C>A (p.T316K) - ISPD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 7 c.964_966del r.(?) p.(His322del) ACMG likely pathogenic g.16298606_16298608del g.16258981_16258983del - - ISPD_000120 - - - - Germline yes - - - - Young Jun Ko
?/. 1 7 c.978T>A r.(?) p.(His326Gln) - VUS g.16298593A>T g.16258968A>T - - ISPD_000066 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 - c.990del r.(?) p.(Ile331Serfs*2), p.(Ile331SerfsTer2) - pathogenic (recessive) g.16298581del g.16258956del 990delC, c.990delC - ISPD_000105 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Danyu Song
?/. 1 7 c.991A>G r.(?) p.(Ile331Val) - VUS g.16298580T>C g.16258955T>C - - ISPD_000065 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 7i c.1026+1G>A r.spl p.? - pathogenic (recessive) g.16298544C>T g.16216193T>C, g.16258919C>T - - ISPD_000104 1 more item PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Danyu Song
+/. 1 - c.1027-10G>A r.spl? p.? - pathogenic (recessive) g.16298117C>T g.16258492C>T - - ISPD_000122 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1027-3T>G r.spl? p.? - pathogenic g.16298110A>C g.16258485A>C - - ISPD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 8 c.1030dup r.(?) p.(Thr344Asnfs*4) - pathogenic g.16298104dup g.16258479dup 1030dupA - ISPD_000064 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 12 8 c.1054C>A r.(?) p.(Gln352Lys) - likely benign, VUS g.16298080G>T g.16258455G>T CRPPA(NM_001101426.4):c.1054C>A (p.Q352K), ISPD(NM_001101426.3):c.1054C>A (p.Q352K) - ISPD_000035 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
Legend   How to query   « First ‹ Prev     1 2     Next › Last »