All variants in the OCRL gene

Information The variants shown are described using the NM_000276.3 transcript reference sequence.

111 entries on 2 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.(2139+1_2140-1)_(2581+1_2582-1) r.(?) p.(?) - likely pathogenic g.? g.? OCRL(NM_000276.3):CDS20-23 deletion - USP9X_000005 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 161 - - - LOVD
?/. - c.16C>G r.(?) p.(Pro6Ala) - VUS g.128674432C>G - OCRL(NM_001318784.1):c.16C>G (p.P6A) - OCRL_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.40-90del r.(=) p.(=) - VUS g.128674631del g.129540654del - - OCRL_000008 - - - - Germline - - - - - Yu Sun
-?/. - c.40-5C>T r.spl? p.? - likely benign g.128674716C>T - OCRL(NM_000276.4):c.40-5C>T - OCRL_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.40-5C>T r.spl? p.? - likely benign g.128674716C>T - OCRL(NM_000276.4):c.40-5C>T - OCRL_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.40A>G r.(?) p.(Thr14Ala) - likely benign g.128674721A>G - OCRL(NM_000276.3):c.40A>G (p.(Thr14Ala)), OCRL(NM_001318784.1):c.43A>G (p.T15A) - OCRL_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.40A>G r.(?) p.(Thr14Ala) - VUS g.128674721A>G - OCRL(NM_000276.3):c.40A>G (p.(Thr14Ala)), OCRL(NM_001318784.1):c.43A>G (p.T15A) - OCRL_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.41C>T r.(?) p.(Thr14Ile) - likely benign g.128674722C>T g.129540745C>T OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I) - OCRL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.41C>T r.(?) p.(Thr14Ile) - benign g.128674722C>T g.129540745C>T OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I) - OCRL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.41C>T r.(?) p.(Thr14Ile) - likely benign g.128674722C>T g.129540745C>T OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I) - OCRL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.41C>T r.(?) p.(Thr14Ile) - likely benign g.128674722C>T - OCRL(NM_000276.3):c.41C>T (p.(Thr14Ile)), OCRL(NM_000276.4):c.41C>T (p.T14I), OCRL(NM_001318784.1):c.44C>T (p.T15I) - OCRL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.112C>T r.(?) p.(Gln38*) - pathogenic g.128674793C>T - OCRL(NM_000276.4):c.112C>T (p.Q38*) - OCRL_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.120-28T>G r.(=) p.(=) - VUS g.128678907T>G g.129544930T>G - - OCRL_000002 - - - - Germline - - - - - Yu Sun
-?/. - c.152A>G r.(?) p.(His51Arg) - likely benign g.128678967A>G g.129544990A>G OCRL(NM_000276.3):c.152A>G (p.H51R), OCRL(NM_000276.4):c.152A>G (p.H51R) - OCRL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.152A>G r.(?) p.(His51Arg) - benign g.128678967A>G g.129544990A>G OCRL(NM_000276.3):c.152A>G (p.H51R), OCRL(NM_000276.4):c.152A>G (p.H51R) - OCRL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.176A>G r.(?) p.(Asn59Ser) - VUS g.128678991A>G g.129545014A>G OCRL(NM_001318784.1):c.179A>G (p.N60S) - OCRL_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.199+16C>G r.(=) p.(=) - benign g.128679030C>G g.129545053C>G OCRL(NM_000276.3):c.199+16C>G - OCRL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.199+16C>G r.(=) p.(=) - benign g.128679030C>G g.129545053C>G OCRL(NM_000276.3):c.199+16C>G - OCRL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.200-7dup r.(=) p.(=) - likely benign g.128682533dup g.129548556dup OCRL(NM_001318784.1):c.203-7dupC - OCRL_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.238+11T>C r.(=) p.(=) - benign g.128682589T>C g.129548612T>C OCRL(NM_000276.3):c.238+11T>C - OCRL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4i c.239-4023A>G r.c.238_239ins[g;239-4022_239-3958] p.Gly81Lysfs*2 - pathogenic (recessive) g.128687279A>G - 238+4701A>G - OCRL_000091 - PubMed: Rendu 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.239-20T>C r.(=) p.(=) - likely benign g.128691282T>C - OCRL(NM_000276.4):c.239-20T>C - OCRL_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.253C>T r.(?) p.(Arg85Trp) - VUS g.128691316C>T - OCRL(NM_001318784.1):c.256C>T (p.R86W) - OCRL_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.260_261del r.(?) p.(Gln87ArgfsTer10) - pathogenic g.128691323_128691324del g.129557346_129557347del - - OCRL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.270G>A r.(?) p.(Trp90Ter) - pathogenic g.128691333G>A g.129557356G>A - - OCRL_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.349+14C>T r.(=) p.(=) - benign g.128691426C>T g.129557449C>T OCRL(NM_000276.3):c.349+14C>T - OCRL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.349+14C>T r.(=) p.(=) - likely benign g.128691426C>T g.129557449C>T OCRL(NM_000276.3):c.349+14C>T - OCRL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.350C>T r.(?) p.(Ala117Val) - VUS g.128691838C>T g.129557861C>T OCRL(NM_001318784.1):c.353C>T (p.A118V) - OCRL_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.351T>G r.(?) p.(Ala117=) - VUS g.128691839T>G - OCRL(NM_001318784.1):c.354T>G (p.A118=) - OCRL_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.375G>T r.(?) p.(Glu125Asp) - benign g.128691863G>T g.129557886G>T OCRL(NM_000276.3):c.375G>T (p.E125D) - OCRL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.439+3A>G r.spl? p.? - benign g.128691930A>G g.129557953A>G OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G - OCRL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.439+3A>G r.spl? p.? - likely benign g.128691930A>G g.129557953A>G OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G - OCRL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.439+3A>G r.spl? p.? - likely benign g.128691930A>G g.129557953A>G OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G - OCRL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.439+3A>G r.spl? p.? - likely benign g.128691930A>G g.129557953A>G OCRL(NM_000276.3):c.439+3A>G (p.?), OCRL(NM_000276.4):c.439+3A>G, OCRL(NM_001318784.1):c.442+3A>G - OCRL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 6i c.439+3A>G r.spl p.? - VUS g.128691930A>G g.129557953A>G - - OCRL_000059 - - ClinVar-RCV000632787.1 rs61752971 Germline - - - - - LOVD
?/. - c.439+3A>G r.spl p.? - VUS g.128691930A>G g.129557953A>G - - OCRL_000059 - PubMed: Ma 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.441G>A r.(?) p.(Gly147=) - likely benign g.128692611G>A g.129558634G>A OCRL(NM_001318784.1):c.444G>A (p.G148=) - OCRL_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.481G>A r.(?) p.(Asp161Asn) - likely benign g.128692651G>A g.129558674G>A OCRL(NM_000276.3):c.481G>A (p.D161N) - OCRL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.599C>G r.(?) p.(Pro200Arg) - VUS g.128692855C>G g.129558878C>G - - OCRL_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.633A>G r.(?) p.(Val211=) - likely benign g.128692889A>G g.129558912A>G OCRL(NM_001318784.1):c.636A>G (p.V212=) - OCRL_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.688C>T r.(?) p.(Arg230Ter) - pathogenic g.128692944C>T g.129558967C>T OCRL(NM_000276.3):c.688C>T (p.R230*) - OCRL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.723-2A>C r.723_824del p.Phe243_Phe276del - pathogenic g.128694525A>C g.129560548A>C g.25274A>G - OCRL_000058 - - - - Uniparental disomy, maternal allele - - - - - Xia Zhang
+?/. - c.808G>A r.(?) p.(Asp270Asn) - likely pathogenic g.128694612G>A g.129560635G>A AGXT (NM_000030.2):c.557C>T (p.A186V)/c.590G>A(p.R197Q); OCRL(NM_000276.3):c.808G>A(p.D270N) - OCRL_000094 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 208 - - - LOVD
+/. - c.821T>C r.(?) p.(Ile274Thr) - pathogenic g.128694625T>C g.129560648T>C OCRL(NM_000276.3):c.821T>C (p.I274T) - OCRL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 10 c.827T>C r.(?) p.(Phe276Ser) - likely pathogenic g.128695158T>C g.129561181T>C - - OCRL_000085 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.891G>A r.(?) p.(Trp297Ter) - pathogenic g.128695222G>A g.129561245G>A OCRL(NM_000276.3):c.891G>A (p.W297*) - OCRL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.940-12C>T r.(=) p.(=) - benign g.128696349C>T g.129562372C>T OCRL(NM_000276.4):c.940-12C>T - OCRL_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.940-11G>A r.(=) p.(=) - pathogenic g.128696350G>A g.129562373G>A OCRL(NM_000276.3):c.940-11G>A - OCRL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.940-11G>A r.spl p.? - pathogenic g.128696350G>A g.129562373G>A - - OCRL_000022 - - - - Germline/De novo (untested) - - - - - Min Peng
?/. - c.956T>C r.(?) p.(Leu319Pro) - VUS g.128696377T>C g.129562400T>C OCRL(NM_000276.3):c.956T>C (p.L319P) - OCRL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.961G>T r.(?) p.(Gly321Trp) - VUS g.128696382G>T g.129562405G>T OCRL(NM_000276.3):c.961G>T (p.G321W) - OCRL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1000C>T r.(?) p.(Arg334Ter) - pathogenic g.128696421C>T g.129562444C>T - - OCRL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1040G>A r.(?) p.(Gly347Glu) - likely pathogenic g.128696461G>A g.129562484G>A OCRL(NM_000276.3):c.1040G>A(p.G347E); SLC7A9(NM_001243036.1):c.829G>A(p.V277M) - OCRL_000095 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 130 - - - LOVD
?/. - c.1063A>G r.(?) p.(Lys355Glu) - VUS g.128696582A>G g.129562605A>G OCRL(NM_000276.3):c.1063A>G (p.K355E) - OCRL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1110C>T r.(?) p.(Cys370=) - likely benign g.128696629C>T g.129562652C>T OCRL(NM_001318784.1):c.1113C>T (p.C371=) - OCRL_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1128G>T r.(?) p.(Leu376=) - likely benign g.128696647G>T - OCRL(NM_001318784.1):c.1131G>T (p.L377=) - OCRL_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1184C>T r.(?) p.(Ala395Val) - VUS g.128696703C>T - OCRL(NM_000276.4):c.1184C>T (p.A395V) - OCRL_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1245-68C>T r.(?) p.(=) - benign g.128699681C>T g.129565704C>T NM_001318784:c.1248-68C>T - OCRL_000103 ACMG PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
./. - c.1254T>G r.(?) p.(Ile418Met) - pathogenic g.128699758T>G g.129565781T>G - - OCRL_000009 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. - c.1275T>C r.(?) p.(Tyr425=) - likely benign g.128699779T>C g.129565802T>C OCRL(NM_001318784.1):c.1278T>C (p.Y426=) - OCRL_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1291G>A r.(?) p.(Asp431Asn) - likely benign g.128699795G>A g.129565818G>A OCRL(NM_001318784.1):c.1294G>A (p.D432N) - OCRL_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1351G>A r.(?) p.(Asp451Asn) - VUS g.128699855G>A g.129565878G>A OCRL(NM_000276.4):c.1351G>A (p.D451N) - OCRL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1416G>A r.(?) p.(Lys472=) - likely benign g.128701290G>A - OCRL(NM_001318784.1):c.1419G>A (p.K473=) - OCRL_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1431T>G r.(?) p.(Tyr477Ter) - pathogenic g.128701305T>G g.129567328T>G OCRL(NM_000276.3):c.1431T>G (p.Y477*) - OCRL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1432_1437del r.(?) p.(Lys478_Tyr479del) - pathogenic g.128701306_128701311del g.129567329_129567334del OCRL(NM_000276.3):c.1432_1437delAAGTAT (p.K478_Y479del) - OCRL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1454G>A r.(?) p.(Arg485Gln) - VUS g.128701328G>A g.129567351G>A OCRL(NM_001318784.1):c.1457G>A (p.R486Q) - OCRL_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1466+1G>A r.spl? p.? - pathogenic g.128701341G>A g.129567364G>A OCRL(NM_000276.3):c.1466+1G>A - OCRL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1467-4dup r.spl? p.? - VUS g.128703237dup g.129569260dup OCRL(NM_000276.3):c.1467-5_1467-4insA (p.?) - OCRL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1498C>T r.(?) p.(Arg500Ter) - pathogenic g.128703272C>T g.129569295C>T OCRL(NM_000276.3):c.1498C>T (p.R500*) - OCRL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1514G>T r.(?) p.(Gly505Val) - VUS g.128703288G>T g.129569311G>T OCRL(NM_000276.3):c.1514G>T (p.G505V) - OCRL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1541G>A r.(?) p.(Arg514Gln) - VUS g.128703315G>A - OCRL(NM_000276.3):c.1541G>A (p.(Arg514Gln)) - OCRL_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1568A>C r.(?) p.(Asp523Ala) - likely pathogenic g.128703342A>C g.129569365A>C - - OCRL_000056 - - - - Unknown - - - - - IMGAG
-?/. - c.1602+7A>G r.(=) p.(=) - likely benign g.128703383A>G g.129569406A>G - - OCRL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1603-207G>T r.(=) p.(=) - VUS g.128708910G>T g.129574933G>T - - OCRL_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1603-207G>T r.(=) p.(=) - VUS g.128708910G>T g.129574933G>T - - OCRL_000003 - - - - Germline - - - - - Yu Sun
+/. - c.1621C>T r.(?) p.(Arg541Ter) - pathogenic g.128709135C>T g.129575158C>T OCRL(NM_000276.3):c.1621C>T (p.R541*) - OCRL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1621C>T r.(?) p.(Arg541Ter) - pathogenic g.128709135C>T - OCRL(NM_000276.3):c.1621C>T (p.R541*) - OCRL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1691_1694dup r.(?) p.(Leu565PhefsTer12) - pathogenic g.128709205_128709208dup g.129575228_129575231dup OCRL(NM_000276.3):c.1691_1694dupCCTT (p.L565Ffs*12) - OCRL_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1737del r.(?) p.(Arg580GlyfsTer64) - pathogenic g.128709897del g.129575920del OCRL(NM_000276.3):c.1737delT (p.R580Gfs*64) - OCRL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1738C>T r.(?) p.(Arg580Trp) - VUS g.128709898C>T - OCRL(NM_001318784.2):c.1741C>T (p.R581W) - OCRL_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1842G>A r.(?) p.(Trp614Ter) - pathogenic g.128710002G>A g.129576025G>A OCRL(NM_000276.3):c.1842G>A (p.W614*) - OCRL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1868A>G r.(?) p.(Tyr623Cys) - VUS g.128710028A>G - - - OCRL_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1880-4T>C r.spl? p.? - likely benign g.128710290T>C - OCRL(NM_001318784.1):c.1883-4T>C - OCRL_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1919_1920del r.(?) p.(Lys640ArgfsTer12) - likely pathogenic (recessive) g.128710333_128710334del g.129576356_129576357del 1919_1920delAA - OCRL_000099 ACMG PSV1, PM2 PubMed: Kessel 2021 - - Germline - - - - - Johan den Dunnen
-?/. - c.1944G>A r.(?) p.(Ser648=) - likely benign g.128710358G>A g.129576381G>A OCRL(NM_000276.3):c.1944G>A (p.S648=), OCRL(NM_000276.4):c.1944G>A (p.S648=) - OCRL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1944G>A r.(?) p.(Ser648=) - likely benign g.128710358G>A - OCRL(NM_000276.3):c.1944G>A (p.S648=), OCRL(NM_000276.4):c.1944G>A (p.S648=) - OCRL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1988G>A r.(?) p.(Arg663Gln) - likely benign g.128710402G>A g.129576425G>A OCRL(NM_001318784.1):c.1991G>A (p.R664Q) - OCRL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2017G>A r.(?) p.(Gly673Arg) - VUS g.128710431G>A g.129576454G>A OCRL(NM_000276.4):c.2017G>A (p.G673R) - OCRL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2098dup r.(?) p.(Thr700AsnfsTer26) - pathogenic g.128710512dup g.129576535dup OCRL(NM_000276.3):c.2098dupA (p.T700Nfs*26) - OCRL_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2116-9C>T r.(=) p.(=) - likely benign g.128718312C>T g.129584335C>T OCRL(NM_001318784.1):c.2119-9C>T - OCRL_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2144A>T r.(?) p.(Lys715Ile) - likely benign g.128720983A>T - OCRL(NM_000276.3):c.2144A>T (p.(Lys715Ile)) - OCRL_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2200del r.(?) p.(Val734PhefsTer8) - pathogenic g.128721039del g.129587062del OCRL(NM_000276.3):c.2200delG (p.V734Ffs*8) - OCRL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2257-2A>G r.spl? p.? - pathogenic g.128722154A>G g.129588177A>G OCRL(NM_000276.3):c.2257-2A>G - OCRL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2313_2316del r.(?) p.(Cys771TrpfsTer53) - pathogenic g.128722212_128722215del g.129588235_129588238del OCRL(NM_000276.3):c.2313_2316delTCTG (p.C771Wfs*53) - OCRL_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2341+1G>A r.spl? p.? - likely benign g.128722241G>A - OCRL(NM_000276.4):c.2341+1G>A - OCRL_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2341+3A>G r.spl? p.? - VUS g.128722243A>G g.129588266A>G OCRL(NM_000276.3):c.2341+3A>G - OCRL_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2368_2370dup r.(?) p.(Ala790dup) - VUS g.128722889_128722891dup g.129588912_129588914dup OCRL(NM_000276.3):c.2368_2370dupGCA (p.A790dup) - OCRL_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2414dup r.(?) p.(Tyr805*) - pathogenic g.128722935dup g.129588958dup - - OCRL_000057 - - - - Unknown - - - - - IMGAG
+/. - c.2464C>T r.(?) p.(Arg822Ter) - pathogenic g.128722985C>T g.129589008C>T OCRL(NM_000276.3):c.2464C>T (p.R822*) - OCRL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2469+2T>G r.spl? p.? - VUS g.128722992T>G g.129589015T>G OCRL(NM_000276.3):c.2469+2T>G (p.?) - OCRL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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