All variants in the OFD1 gene

Information The variants shown are described using the NM_003611.2 transcript reference sequence.

217 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     
+/. - c.-20606G>A r.(?) p.(=) - pathogenic g.13732585G>A g.13714466G>A - - OFD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-19015G>A r.(?) p.(=) - pathogenic g.13734176G>A g.13716057G>A - - TRAPPC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-19005A>G r.(?) p.(=) - benign g.13734186A>G - TRAPPC2(NM_001011658.3):c.261T>C (p.H87=) - OFD1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-18543G>A r.(?) p.(=) - VUS g.13734648G>A g.13716529G>A - - OFD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-18534C>T r.(?) p.(=) - likely benign g.13734657C>T - TRAPPC2(NM_001011658.3):c.234G>A (p.A78=) - OFD1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-18504G>A r.(?) p.(=) - likely benign g.13734687G>A - TRAPPC2(NM_001011658.3):c.204C>T (p.N68=) - OFD1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-18411C>T r.(?) p.(=) - likely benign g.13734780C>T g.13716661C>T TRAPPC2(NM_001011658.3):c.111G>A (p.L37=) - OFD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-15206C>T r.(?) p.(=) - pathogenic g.13737985C>T g.13719866C>T - - TRAPPC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-15110A>G r.(?) p.(=) - likely pathogenic g.13738081A>G g.13719962A>G - - TRAPPC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-15109T>C r.(?) p.(=) - VUS g.13738082T>C g.13719963T>C - - OFD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-951C>T r.(?) p.(=) - likely benign g.13752240C>T g.13734121C>T TRAPPC2(NM_001128835.2):c.12G>A (p.W4*) - OFD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-951C>T r.(?) p.(=) - VUS g.13752240C>T - TRAPPC2(NM_001128835.2):c.12G>A (p.W4*) - OFD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-885_-882del r.(?) p.(=) - VUS g.13752306_13752309del g.13734187_13734190del TRAPPC2(NM_001011658.3):c.-161-3_-161del (p.(=)) - OFD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.-951C>T r.(=) p.(=) - likely pathogenic (recessive) g.13752240C>T g.13734121C>T NM_001128835.2:c.12G>A - OFD1_000009 - PubMed: Nambot 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.13-3T>C r.spl? p.? - likely benign g.13753364T>C g.13735245T>C OFD1(NM_001330210.1):c.-533-3T>C - OFD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.54A>G r.(?) p.(Glu18=) - likely benign g.13753408A>G g.13735289A>G OFD1(NM_003611.2):c.54A>G (p.E18=) - OFD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.74A>G r.(?) p.(Gln25Arg) - likely benign g.13753428A>G - OFD1(NM_003611.2):c.74A>G (p.Q25R), OFD1(NM_003611.3):c.74A>G (p.Q25R) - OFD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.74A>G r.(?) p.(Gln25Arg) - VUS g.13753428A>G - OFD1(NM_003611.2):c.74A>G (p.Q25R), OFD1(NM_003611.3):c.74A>G (p.Q25R) - OFD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.112-63C>T r.(=) p.(=) - benign g.13754534C>T g.13736415C>T OFD1(NM_003611.3):c.112-63C>T - OFD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.149A>G r.(?) p.(His50Arg) - pathogenic g.13754634A>G g.13736515A>G NM_003611.2:c.149A>G - OFD1_000123 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+?/. - c.149A>G r.(?) p.(His50Arg) - likely pathogenic g.13754634A>G g.13736515A>G c.149A>G; p.H50R - OFD1_000123 - PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+/. - c.149A>G r.(?) p.(His50Arg) - pathogenic g.13754634A>G - c.149A>G - OFD1_000123 - PubMed: Summers 2017 - - Germline - - - - - LOVD
?/. - c.164G>T r.(?) p.(Gly55Val) - VUS g.13754649G>T g.13736530G>T OFD1(NM_003611.2):c.164G>T (p.(Gly55Val)) - OFD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.172C>T r.(?) p.(Gln58Ter) - pathogenic g.13754657C>T g.13736538C>T - - OFD1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.242A>T r.(?) p.(His81Leu) - likely pathogenic g.13754727A>T g.13736608A>T - - OFD1_000056 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+?/. - c.260A>G r.(?) p.(Tyr87Cys) - likely pathogenic g.13754745A>G g.13736626A>G - - OFD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.270A>C r.(?) p.(Ser90=) - likely benign g.13754755A>C g.13736636A>C OFD1(NM_003611.2):c.270A>C (p.S90=) - OFD1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.277G>T r.(?) p.(Val93Phe) - pathogenic g.13754762G>T g.13736643G>T NM_003611.2:c.277G>T - OFD1_000124 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
+/. - c.277G>T r.(?) p.(Val93Phe) - pathogenic g.13754762G>T g.13736643G>T NM_003611.2:c.277G>T - OFD1_000124 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
-?/. - c.313-7dup r.(=) p.(=) - likely benign g.13756958dup g.13738839dup OFD1(NM_003611.3):c.313-7dupT - OFD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.313G>A r.(?) p.(Val105Ile) - likely benign g.13756965G>A g.13738846G>A OFD1(NM_003611.3):c.313G>A (p.V105I) - OFD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.358A>G r.(?) p.(Thr120Ala) - pathogenic (recessive) g.13757010A>G - - - OFD1_000111 - PubMed: Chen 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.363dup r.(?) p.(Ser122GlnfsTer11) - pathogenic g.13757015dup g.13738896dup - - OFD1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.381+10C>G r.spl p.? - VUS g.13757043C>G g.13738924C>G - - OFD1_000128 - PubMed: Xu 2014 - - Germline - 1/205 case chromosomes - - - LOVD
-?/. - c.382G>A r.(?) p.(Val128Ile) - likely benign g.13757121G>A - OFD1(NM_003611.2):c.382G>A (p.V128I) - OFD1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.400_403del r.(?) p.(Glu134IlefsTer10) ACMG pathogenic g.13757139_13757142del g.13739020_13739023del OFD1 c.397_400delAAAG, E134Ifs*10 - OFD1_000045 c.397_400delAAAG automapped to c.400_403del, hemizygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - LOVD
-?/. - c.412+10G>A r.(=) p.(=) - likely benign g.13757161G>A - OFD1(NM_001330210.1):c.-134+10G>A - OFD1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.413-258_1654+314dup r.spl p.(?) - likely pathogenic g.13762276_13776881dup g.13744157_13758762dup OFD1 chrX:13762276_13776881dup - OFD1_000143 Duplication of exons 6-15 (1242 coding bases, inframe), range 14605-19443 bp in various techniques, heterozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
-/. - c.470G>A r.(?) p.(Cys157Tyr) - benign g.13762591G>A g.13744472G>A OFD1(NM_003611.3):c.470G>A (p.C157Y) - OFD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.491G>A r.(?) p.(Ser164Asn) - VUS g.13762612G>A g.13744493G>A - - OFD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.495G>T r.(?) p.(=) - likely benign g.13762616G>T - OFD1(NM_001330210.2):c.75G>T (p.S25=) - chrX_018847 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.503A>T r.(?) p.(Asn168Ile) - likely benign g.13762624A>T g.13744505A>T OFD1(NM_001330210.1):c.83A>T (p.N28I) - OFD1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.517+8T>C r.(=) p.(=) - VUS g.13762646T>C g.13744527T>C OFD1(NM_003611.2):c.517+8T>C (p.(=)) - OFD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.517+20T>C r.(=) p.(=) - likely benign g.13762658T>C g.13744539T>C OFD1(NM_001330210.1):c.97+20T>C, OFD1(NM_003611.3):c.517+20T>C - OFD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.517+20T>C r.(=) p.(=) - likely benign g.13762658T>C - OFD1(NM_001330210.1):c.97+20T>C, OFD1(NM_003611.3):c.517+20T>C - OFD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 7 c.535A>T r.(?) p.(Ile179Phe) - VUS g.13764455A>T g.13746336A>T - - OFD1_000001 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline ? 2/208 cases - - - Lucy Raymond
+/. - c.541_543del r.(?) p.(Asp181del) - pathogenic g.13764461_13764463del g.13746342_13746344del c.537_539del - OFD1_000120 - PubMed: Suzuki 2016 - - De novo - - - - - LOVD
-?/. - c.567G>A r.(?) p.(Gln189=) - likely benign g.13764487G>A - OFD1(NM_001330210.1):c.147G>A (p.Q49=) - OFD1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.568C>T r.(?) p.(Arg190Cys) - likely benign g.13764488C>T g.13746369C>T - - OFD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.655-2A>T r.(?) p.(?) ACMG pathogenic g.13764897A>T g.13746778A>T - - OFD1_000101 ACMG: PVS1,PS2,PM2; not regarded causative for the phenotype in this individual; presumed lethality to af fected males during gestation (most ma le conceptuses with an OFD1 pathogenic variant miscarry) - - - Germline - - - - - Andreas Laner
+?/. 8 c.710del r.(?) p.(Lys237Serfs*6) - likely pathogenic g.13764954del g.13746835del - - OFD1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.710del r.(?) p.(Lys237SerfsTer6) - pathogenic g.13764954del g.13746835del OFD1(NM_003611.3):c.710delA (p.K237Sfs*6) - OFD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.710del r.(?) p.(Lys237Serfs*6) - VUS g.13764954del g.13746835del 702delA - OFD1_000004 - - - - Somatic - - - - - Michael Hildebrand
+?/. - c.710del r.(?) p.(Lys237Serfs*6) - VUS g.13764954del g.13746835del 702delA - OFD1_000146 - - - - Somatic - - - - - Michael Hildebrand
+/. - c.710dup r.(?) p.(Tyr238ValfsTer2) - pathogenic g.13764954dup - OFD1(NM_003611.2):c.710dup (p.(Tyr238Valfs*2)) - OFD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.710dup r.(?) p.(Tyr238Valfs*2) - VUS g.13764954dup g.13746835dup 702dup - OFD1_000145 - - - - Somatic - - - - - Michael Hildebrand
-?/. 8 c.714T>C r.(=) p.(Tyr238) - likely benign g.13764958T>C g.13746839T>C Y238Y - OFD1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
-/. - c.714T>C r.(?) p.(Tyr238=) - benign g.13764958T>C g.13746839T>C OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=) - OFD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.714T>C r.(?) p.(Tyr238=) - likely benign g.13764958T>C g.13746839T>C OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=) - OFD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.714T>C r.(?) p.(Tyr238=) - likely benign g.13764958T>C - OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=) - OFD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.736C>T r.(?) p.(Gln246*) - pathogenic g.13764980C>T - c.736C>T - OFD1_000144 - PubMed: Colombo-2020 - - Germline - - - - - LOVD
-?/. - c.781G>A r.(?) p.(Val261Ile) - likely benign g.13765025G>A g.13746906G>A OFD1(NM_001330210.1):c.361G>A (p.V121I) - OFD1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.858G>A r.(?) p.(Arg286=) - likely benign g.13767575G>A - OFD1(NM_001330210.1):c.438G>A (p.R146=) - OFD1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 9 c.872_877del r.(?) p.(Lys291_Asp292del) - likely pathogenic g.13767589_13767594del g.13749470_13749475del - - OFD1_000008 - PubMed: Kroes 2016 - - Unknown ? - - - - Sanne Savelberg
+/. - c.920T>A r.(?) p.(Val307Asp) - pathogenic g.13767637T>A g.13749518T>A - - OFD1_000122 - PubMed: Srour 2015 - - Germline - - - - - LOVD
-?/. - c.934T>C r.(?) p.(Leu312=) - likely benign g.13767651T>C - OFD1(NM_001330210.1):c.514T>C (p.L172=) - OFD1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.(935+1_?)_(?_936-1)ins(62) r.spl? p.Asn313fs*330 - likely pathogenic g.? - insertion of a cryptic exon between 9 and 10 (exon X) (p.N313fs.X330) - OFD1_000147 - PubMed: Webb-2012 - - Germline yes 0/220 control chromosomes Spanish population - - - LOVD
-?/. - c.935+4A>G r.spl? p.? - likely benign g.13767656A>G g.13749537A>G OFD1(NM_003611.2):c.935+4A>G (p.?) - OFD1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.935+706A>G r.spl? p.? - likely pathogenic g.13768358A>G - IVS9+706A>G - OFD1_000148 - PubMed: Webb-2012 - - Germline - 0/220 control chromosomes Spanish population - - - LOVD
?/. - c.936-2A>G r.spl? p.? - VUS g.13769366A>G g.13751247A>G NM_003611.2:c.936-2A>G - OFD1_000125 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - LOVD
?/. - c.982C>T r.(?) p.(Leu328Phe) - VUS g.13769414C>T g.13751295C>T OFD1(NM_003611.2):c.982C>T (p.L328F) - OFD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1020G>A r.(?) p.(Glu340=) - likely benign g.13769452G>A - OFD1(NM_001330210.2):c.600G>A (p.E200=), OFD1(NM_003611.3):c.1020G>A (p.E340=) - OFD1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1020G>A r.(?) p.(Glu340=) - likely benign g.13769452G>A - OFD1(NM_001330210.2):c.600G>A (p.E200=), OFD1(NM_003611.3):c.1020G>A (p.E340=) - OFD1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1030C>T r.(?) p.(Arg344Ter) - VUS g.13769462C>T g.13751343C>T OFD1(NM_003611.2):c.1030C>T (p.(Arg344Ter)) - OFD1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1046A>G r.(?) p.(Glu349Gly) - VUS g.13769478A>G g.13751359A>G - - OFD1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1055+108A>G r.(=) p.(=) - benign g.13769595A>G g.13751476A>G OFD1(NM_003611.3):c.1055+108A>G - OFD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 10i c.1056-923T>C r.(=) p.(=) - likely benign g.13770564T>C g.13752445T>C - - OFD1_000005 - - - - Germline - - - - - Yu Sun
-/. - c.1056-643C>T r.(=) p.(=) - benign g.13770844C>T g.13752725C>T OFD1(NM_003611.3):c.1056-643C>T - OFD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1081T>C r.(?) p.(Tyr361His) - likely pathogenic g.13771512T>C g.13753393T>C - - OFD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1099C>T r.(?) p.(Arg367Ter) - pathogenic g.13771530C>T g.13753411C>T - - OFD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1100G>A r.(?) p.(Arg367Gln) - VUS g.13771531G>A g.13753412G>A OFD1(NM_003611.3):c.1100G>A (p.R367Q) - OFD1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1111G>A r.(?) p.(Asp371Asn) - likely benign g.13771542G>A g.13753423G>A OFD1(NM_001330210.1):c.691G>A (p.D231N) - OFD1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1128A>C r.(?) p.(Lys376Asn) - VUS g.13771559A>C g.13753440A>C OFD1(NM_001330210.1):c.708A>C (p.K236N) - OFD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1129+8T>A r.(=) p.(=) - likely benign g.13771568T>A g.13753449T>A OFD1(NM_003611.2):c.1129+8T>A (p.(=)) - OFD1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1129+16A>G r.(=) p.(=) - benign g.13771576A>G g.13753457A>G OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G - OFD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1129+16A>G r.(=) p.(=) - benign g.13771576A>G g.13753457A>G OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G - OFD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1129+16A>G r.(=) p.(=) - benign g.13771576A>G g.13753457A>G OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G - OFD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1182_1184del r.(?) p.(Glu395del) - VUS g.13773322_13773324del - OFD1(NM_003611.3):c.1182_1184delGGA (p.E395del) - OFD1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1182_1184del r.(?) p.(Glu395del) - likely benign g.13773322_13773324del - OFD1(NM_003611.3):c.1182_1184delGGA (p.E395del) - OFD1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1193_1196del r.(?) p.(Gln398Leufs*2) - pathogenic (dominant) g.13773333_13773336del g.13755214_13755217del NM_003611.2:c.1193_1196delAATC:p.(Gln398Leufs*2) - OFD1_000053 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+?/. - c.1193_1196del r.(?) p.(Gln398LeufsTer2) - VUS g.13773333_13773336del g.13755214_13755217del delTCAA - OFD1_000053 - - - - Somatic - - - - - Michael Hildebrand
-/. - c.1264A>G r.(?) p.(Lys422Glu) - benign g.13774739A>G g.13756620A>G OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E) - OFD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1264A>G r.(?) p.(Lys422Glu) - benign g.13774739A>G g.13756620A>G OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E) - OFD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1264A>G r.(?) p.(Lys422Glu) - benign g.13774739A>G - OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E) - OFD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1294A>G r.(?) p.(Lys432Glu) - likely benign g.13774769A>G g.13756650A>G OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E) - OFD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1294A>G r.(?) p.(Lys432Glu) - VUS g.13774769A>G g.13756650A>G OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E) - OFD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1294A>G r.(?) p.(Lys432Glu) - likely benign g.13774769A>G - OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E) - OFD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1349A>G r.(?) p.(Gln450Arg) - VUS g.13774824A>G - OFD1(NM_003611.3):c.1349A>G (p.Q450R) - OFD1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1363A>C r.(?) p.(Lys455Gln) - VUS g.13774838A>C - OFD1(NM_003611.3):c.1363A>C (p.K455Q) - OFD1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 13i c.1412-27del r.(=) p.(=) - likely benign g.13775752del g.13757633del - - OFD1_000007 - - - - Germline - - - - - Yu Sun
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