Unique variants in the OPHN1 gene

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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 - c.-5+1G>A r.spl? p.? - VUS g.67653009C>T g.68433167C>T OPHN1(NM_002547.2):c.-5+1G>A - OPHN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2i c.(154+1::155-1) r.0 p.0 - pathogenic g.(67518939_67652708)_qterdelins[NC_000012.11:(67700000_71500000)_qter] - - t(X;12)(q11;q15) OPHN1_000000 t(X;12) balanced translocation PubMed: Bienvenu 1997, PubMed: Billuart 1998, Journal: Billuart 1998 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 - c.4G>C r.(?) p.(Gly2Arg) - likely pathogenic g.67652859C>G g.68433017C>G NM_002547.2:c.4G>C; p.Gly2Arg - OPHN1_000100 - PubMed: Nair 2018 - rs1200813419 Unknown ? - - - - LOVD
-?/. 1 - c.12C>G r.(?) p.(Pro4=) - likely benign g.67652851G>C - OPHN1(NM_002547.2):c.12C>G (p.P4=) - OPHN1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.19G>A r.(?) p.(Glu7Lys) - VUS g.67652844C>T - OPHN1(NM_002547.2):c.19G>A (p.E7K) - OPHN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.37C>G r.(?) p.(Leu13Val) - VUS g.67652826G>C g.68432984G>C - - OPHN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.101A>G r.(?) p.(Lys34Arg) - VUS g.67652762T>C - - - OPHN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/? 3 2 c.115G>A r.(?) p.(Val39Ile) - benign, VUS g.67652748C>T g.68432906C>T - - OPHN1_000001 33 homozygous; Clinindb (India), 49 heterozygous; Clinindb (India), recurrent, found 12 times PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tarpey 2009 - rs41303733 Germline ? 12/208 cases, 33/2794 individuals, 49/2794 individuals - - - Lucy Raymond, Mohammed Faruq
?/. 1 - c.116_127del r.(?) p.(Val39_Asp42del) ACMG VUS g.67652736_67652747del g.68432894_68432905del - - OPHN1_000086 - PubMed: Nuovo 2021 - - Germline yes - - - - Sara Nuovo
-?/. 2 - c.133G>A r.(?) p.(Ala45Thr) - likely benign g.67652730C>T g.68432888C>T OPHN1(NM_002547.2):c.133G>A (p.A45T), OPHN1(NM_002547.3):c.133G>A (p.A45T) - OPHN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.154+69A>C r.(=) p.(=) - benign g.67652640T>G g.68432798T>G OPHN1(NM_002547.3):c.154+69A>C - OPHN1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.154+196T>C r.(=) p.(=) - VUS g.67652513A>G g.68432671A>G - - OPHN1_000015 - - - - Germline - - - - - Yu Sun
?/. 1 - c.155-5T>C r.spl? p.? - VUS g.67518943A>G g.68299101A>G OPHN1(NM_002547.2):c.155-5T>C - OPHN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.184C>T r.(?) p.(Gln62*) - pathogenic g.67518909G>A g.68299067G>A C>T ex3 (Q62X) - OPHN1_000013 - PubMed: Philip 2003, Journal: Philip 2003, OMIM:var0002 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.204G>C r.(?) p.(Gln68His) - VUS g.67518889C>G g.68299047C>G - - OPHN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.204G>T r.(?) p.(Gln68His) - VUS g.67518889C>A g.68299047C>A OPHN1(NM_002547.2):c.204G>T (p.Q68H) - OPHN1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.237T>C r.(?) p.(Asp79=) - likely benign g.67518856A>G g.68299014A>G OPHN1(NM_002547.2):c.237T>C (p.D79=) - OPHN1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.251-2A>G r.spl? p.? - pathogenic g.67502961T>C g.68283119T>C OPHN1 splice acceptor - OPHN1_000065 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.403G>T r.(?) p.(Glu135*) - pathogenic g.67454412C>A g.68234570C>A OPHN1 E135* - OPHN1_000064 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
?/? 1 6 c.434T>C r.(?) p.(Leu145Pro) - VUS g.67454381A>G g.68234539A>G - - OPHN1_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
+?/. 1 - c.525_526insA r.(?) p.(Glu176ArgfsTer5) - likely pathogenic g.67433775_67433776insT g.68213933_68213934insT - - OPHN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 7 c.549dup r.(?) p.(Gln184Serfs*23) - likely pathogenic g.67433752dup g.68213910dup - - OPHN1_000023 - - - - De novo - - - - - Talia Schwartz
-?/. 1 - c.579G>A r.(?) p.(Lys193=) - likely benign g.67433722C>T g.68213880C>T OPHN1(NM_002547.3):c.579G>A (p.K193=) - OPHN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 7 c.590T>A r.(?) p.(Val197Glu) - likely pathogenic g.67433711A>T g.68213869A>T - - OPHN1_000024 - - - - De novo - - - - - Talia Schwartz
?/. 1 - c.598-245G>A r.(=) p.(=) - VUS g.67432299C>T g.68212457C>T - - OPHN1_000014 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.638T>C r.(?) p.(Leu213Pro) ACMG likely pathogenic g.67432014A>G g.68212172A>G - - OPHN1_000098 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.702+2T>C r.spl? p.? - pathogenic g.67431948A>G g.68212106A>G - - OPHN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.702+11A>C r.(=) p.(=) - likely benign g.67431939T>G g.68212097T>G OPHN1(NM_002547.3):c.702+11A>C - OPHN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.702+136T>C r.(=) p.(=) - VUS g.67431814A>G g.68211972A>G - - OPHN1_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.705A>C r.(?) p.(Thr235=) - likely benign g.67430122T>G g.68210280T>G OPHN1(NM_002547.2):c.705A>C (p.T235=) - OPHN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.745_752dup r.745_752dup p.Lys251Asnfs*6 - pathogenic g.67430080_67430087dup g.68210238_68210245dup 1385insAAGAACTT (AAGAATTC) - OPHN1_000012 normal RNA levels; random X-inactivation in carrier females PubMed: Philip 2003, Journal: Philip 2003, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
+?/. 1 9 c.746T>C r.(?) p.(Leu249Pro) ACMG likely pathogenic g.67430081A>G g.68210239A>G - - OPHN1_000059 - PubMed: Tumienė 2018 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.832+16G>A r.(=) p.(=) - likely benign g.67429979C>T g.68210137C>T OPHN1(NM_002547.3):c.832+16G>A - OPHN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.832+112A>G r.(=) p.(=) - benign g.67429883T>C g.68210041T>C OPHN1(NM_002547.3):c.832+112A>G - OPHN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.832+159_832+160del r.(=) p.(=) - benign g.67429846_67429847del g.68210004_68210005del OPHN1(NM_002547.3):c.832+159_832+160delAA - OPHN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.832+160_832+161del r.(=) p.(=) - VUS g.67429834_67429835del g.68209992_68209993del - - OPHN1_000020 - - - - Germline - - - - - Yu Sun
?/. 2 - c.832+162del r.(=) p.(=) - VUS g.67429834del g.68209992del - - OPHN1_000018 - - - - Germline - - - - - Yu Sun
?/. 2 - c.832+538A>G r.(=) p.(=) - VUS g.67429457T>C g.68209615T>C - - OPHN1_000006 - - - - Germline - - - - - Yu Sun
?/. 1 - c.853G>A r.(?) p.(Val285Met) - VUS g.67426495C>T - OPHN1(NM_002547.2):c.853G>A (p.V285M) - OPHN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.855G>A r.(?) p.(Val285=) - VUS g.67426493C>T g.68206651C>T OPHN1(NM_002547.2):c.855G>A (p.V285=) - OPHN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.885C>G r.(?) p.(Thr295=) - likely benign g.67426463G>C g.68206621G>C OPHN1(NM_002547.2):c.885C>G (p.T295=) - OPHN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 - c.902C>T r.(?) p.(Thr301Met) - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.903G>A r.(?) p.(Thr301=) - likely benign g.67426445C>T g.68206603C>T OPHN1(NM_002547.2):c.903G>A (p.T301=) - OPHN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1026-15T>A r.(=) p.(=) - likely benign g.67417121A>T g.68197279A>T OPHN1(NM_002547.3):c.1026-15T>A - OPHN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1026-10T>C r.(=) p.(=) - likely benign g.67417116A>G g.68197274A>G OPHN1(NM_002547.2):c.1026-10T>C - OPHN1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1120A>G r.(?) p.(Ile374Val) - VUS g.67414325T>C g.68194483T>C OPHN1(NM_002547.2):c.1120A>G (p.(Ile374Val)) - OPHN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1134A>C r.(?) p.(Gln378His) - VUS g.67414311T>G g.68194469T>G OPHN1(NM_002547.2):c.1134A>C (p.Q378H) - OPHN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1138+1C>T r.spl p.? - likely pathogenic g.67414306G>A g.68194464G>A - - OPHN1_000091 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.1139-17dup r.(=) p.(=) - likely benign g.67413814dup - OPHN1(NM_002547.3):c.1139-17dupT - OPHN1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1183A>G r.(?) p.(Asn395Asp) - VUS g.67413750T>C - OPHN1(NM_002547.2):c.1183A>G (p.N395D) - OPHN1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 3 - c.1184A>G r.(?) p.(Asn395Ser) - likely benign, VUS g.67413749T>C g.68193907T>C OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S) - OPHN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 14i c.1202-71C>T r.(?) p.(=) - VUS g.67412906G>A g.68193064G>A - - OPHN1_000009 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1202-5A>G r.spl? p.? - likely benign g.67412840T>C g.68192998T>C OPHN1(NM_002547.2):c.1202-5A>G (p.?) - OPHN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1262T>C r.(?) p.(Leu421Pro) - likely pathogenic g.67412775A>G g.68192933A>G - - OPHN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1265del r.(?) p.(Asn422Metfs*28) - pathogenic g.67412773del g.68192931del 1265delA - OPHN1_000026 - - - - Unknown - - - - - IMGAG
?/. 2 - c.1270T>G r.(?) p.(Phe424Val) - VUS g.67412767A>C g.68192925A>C OPHN1(NM_002547.2):c.1270T>G (p.F424V) - OPHN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
./. 1 - c.1277_1834del r.(?) p.(Pro427_Asp612del) - pathogenic g.67292996_67339176del g.68073154_68119334del OPHN1 D612* - OPHN1_000060 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1286G>A r.(?) p.(Cys429Tyr) - VUS g.67339165C>T - - - OPHN1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1410_1420+1delinsA r.spl p.? - pathogenic g.67333022_67333033delinsT g.68113180_68113191delinsT - - OPHN1_000025 - - - - Unknown - - - - - IMGAG
-/. 1 - c.1421-133C>G r.(=) p.(=) - benign g.67331934G>C g.68112092G>C OPHN1(NM_002547.3):c.1421-133C>G - OPHN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1421-131C>G r.(=) p.(=) - benign g.67331932G>C g.68112090G>C OPHN1(NM_002547.3):c.1421-131C>G - OPHN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1461C>T r.(?) p.(Ser487=) - likely benign g.67331761G>A - OPHN1(NM_002547.2):c.1461C>T (p.S487=) - OPHN1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/?, +?/. 2 18 c.1489C>T r.(?) p.(Arg497*) - likely pathogenic, pathogenic g.67331733G>A g.68111891G>A - - OPHN1_000005 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline, Germline/De novo (untested) ? - - - - Johan den Dunnen, Andreas Tzschach
-?/. 1 - c.1497G>A r.(?) p.(Met499Ile) - likely benign g.67331725C>T g.68111883C>T - - OPHN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.1508_1511del r.(?) p.(Leu503Glnfs*16) - pathogenic g.67331711_67331714del g.68111869_68111872del OPHN1 L503Qfs*16 - OPHN1_000063 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.1527-1G>A r.spl? p.? - likely pathogenic g.67316872C>T g.68097030C>T OPHN1 splice acceptor - OPHN1_000062 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 19 c.1579del r.(?) p.(Ile527Serfs*6) - pathogenic g.67316820del g.68096978del 1578del - OPHN1_000010 mRNA hardly detectable (NMD); variant not in 100 control chromosomes PubMed: Billuart 1998, Journal: Billuart 1998, OMIM:var0001 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.1585G>C r.(?) p.(Gly529Arg) - likely pathogenic g.67316813C>G g.68096971C>G OPHN1 G529R - OPHN1_000061 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 19 c.1682G>A r.(?) p.(Gly561Asp) - VUS g.67316716C>T g.68096874C>T - - OPHN1_000099 - PubMed: Ganapathy 2019 - rs751031568 Germline - - - - - Johan den Dunnen
-?/. 1 - c.1699C>A r.(?) p.(Pro567Thr) - likely benign g.67293129G>T g.68073287G>T OPHN1(NM_002547.2):c.1699C>A (p.(Pro567Thr)) - OPHN1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1722G>A r.(?) p.(Pro574=) - likely benign g.67293106C>T g.68073264C>T OPHN1(NM_002547.2):c.1722G>A (p.P574=) - OPHN1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1856C>T r.(?) p.(Pro619Leu) - VUS g.67283998G>A g.68064156G>A - - OPHN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1857G>A r.(?) p.(Pro619=) - likely benign g.67283997C>T g.68064155C>T OPHN1(NM_002547.2):c.1857G>A (p.P619=) - OPHN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 21 c.1955C>T r.(?) p.(Ser652Phe) - VUS g.67283899G>A g.68064057G>A - - OPHN1_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1985T>C r.(?) p.(Leu662Ser) - likely benign g.67283869A>G g.68064027A>G OPHN1(NM_002547.2):c.1985T>C (p.(Leu662Ser)) - OPHN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.2029C>A r.(?) p.(Leu677Met) - likely benign g.67283825G>T g.68063983G>T OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M) - OPHN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 21 c.2035G>A r.(?) p.(Asp679Asn) - likely pathogenic g.67283819C>T g.68063977C>T - - OPHN1_000022 - - - - Germline - - - - - Talia Schwartz
-?/. 2 - c.2056C>T r.(?) p.(Pro686Ser) - likely benign g.67283798G>A g.68063956G>A OPHN1(NM_002547.2):c.2056C>T (p.P686S), OPHN1(NM_002547.3):c.2056C>T (p.P686S) - OPHN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.2129C>T r.(?) p.(Ala710Val) ACMG VUS g.67283725G>A g.68063883G>A - - OPHN1_000087 - PubMed: Nuovo 2021 - - Germline - - - - - Sara Nuovo
?/. 1 - c.2134C>T r.(?) p.(Arg712Trp) - VUS g.67283720G>A g.68063878G>A OPHN1(NM_002547.2):c.2134C>T (p.R712W) - OPHN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 21i c.2159-281G>T r.(?) p.(=) - VUS g.67273933C>A g.68054091C>A - - OPHN1_000008 - - - - Germline - - - - - Yu Sun
?/. 1 21i c.2159-139dup r.(=) p.(=) - VUS g.67273805dup g.68053963dup - - OPHN1_000007 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2159-138del r.(=) p.(=) - VUS g.67273790del g.68053948del - - OPHN1_000021 - - - - Germline - - - - - Yu Sun
-?/., ?/? 2 22 c.2168A>G r.(?) p.(Asp723Gly) - likely benign, VUS g.67273643T>C g.68053801T>C OPHN1(NM_002547.2):c.2168A>G (p.D723G) - OPHN1_000003 found once, non-recurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline ? 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 - c.2170A>G r.(?) p.(Ser724Gly) - VUS g.67273641T>C g.68053799T>C - - OPHN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2222C>T r.(?) p.(Pro741Leu) - VUS g.67273589G>A g.68053747G>A OPHN1(NM_002547.2):c.2222C>T (p.P741L) - OPHN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2303C>T r.(?) p.(Ala768Val) - likely benign g.67273508G>A - OPHN1(NM_002547.2):c.2303C>T (p.A768V) - OPHN1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2307G>A r.(?) p.(Gly769=) - likely benign g.67273504C>T g.68053662C>T OPHN1(NM_002547.2):c.2307G>A (p.G769=) - OPHN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2324+10G>T r.(=) p.(=) - likely benign g.67273477C>A - OPHN1(NM_002547.2):c.2324+10G>T - OPHN1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.2362C>T r.(?) p.(Arg788Trp) - likely benign g.67272395G>A g.68052553G>A OPHN1(NM_002547.2):c.2362C>T (p.R788W, p.(Arg788Trp)), OPHN1(NM_002547.3):c.2362C>T (p.R788W) - OPHN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 2 - c.2363G>A r.(?) p.(Arg788Gln) - likely benign, VUS g.67272394C>T g.68052552C>T OPHN1(NM_002547.2):c.2363G>A (p.R788Q) - OPHN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.2383G>A r.(?) p.(Gly795Ser) - VUS g.67268292C>T g.68048450C>T - - OPHN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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