All variants in the FSCN2 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001077182.2 transcript reference sequence.

250 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.-17842T>C r.(?) p.(=) - benign g.79477716T>C g.81510690T>C ACTG1(NM_001199954.2):c.1128A>G (p.*376=) - ACTG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17828G>A r.(?) p.(=) - VUS g.79477730G>A g.81510704G>A - - ACTG1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17827G>A r.(?) p.(=) - likely benign g.79477731G>A g.81510705G>A ACTG1(NM_001199954.2):c.1113C>T (p.H371=) - ACTG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17821G>A r.(?) p.(=) - likely benign g.79477737G>A g.81510711G>A ACTG1(NM_001199954.2):c.1107C>T (p.I369=) - ACTG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17821G>T r.(?) p.(=) - likely benign g.79477737G>T g.81510711G>T ACTG1(NM_001199954.2):c.1107C>A (p.I369=) - ACTG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17749G>A r.(?) p.(=) - likely benign g.79477809G>A g.81510783G>A ACTG1(NM_001199954.2):c.1035C>T (p.I345=) - ACTG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17746G>A r.(?) p.(=) - likely benign g.79477812G>A g.81510786G>A ACTG1(NM_001199954.2):c.1032C>T (p.S344=) - ACTG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-17745G>C r.(?) p.(=) - likely pathogenic g.79477813G>C - - - ACTG1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17743G>A r.(?) p.(=) - likely benign g.79477815G>A g.81510789G>A ACTG1(NM_001199954.2):c.1029C>T (p.G343=) - ACTG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17740A>G r.(?) p.(=) - likely benign g.79477818A>G g.81510792A>G ACTG1(NM_001199954.2):c.1026T>C (p.G342=) - ACTG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17740A>G r.(?) p.(=) - benign g.79477818A>G g.81510792A>G ACTG1(NM_001199954.2):c.1026T>C (p.G342=) - ACTG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-17734C>A r.(?) p.(=) - likely pathogenic g.79477824C>A - - - ACTG1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17731C>G r.(?) p.(=) - likely benign g.79477827C>G g.81510801C>G ACTG1(NM_001199954.2):c.1017G>C (p.V339=) - ACTG1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17728C>T r.(?) p.(=) - likely benign g.79477830C>T g.81510804C>T ACTG1(NM_001199954.2):c.1014G>A (p.S338=) - ACTG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17728C>T r.(?) p.(=) - benign g.79477830C>T g.81510804C>T ACTG1(NM_001199954.2):c.1014G>A (p.S338=) - ACTG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17727G>A r.(?) p.(=) - VUS g.79477831G>A - - - ACTG1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-17717G>A r.(?) p.(=) - likely pathogenic g.79477841G>A g.81510815G>A ACTG1(NM_001199954.2):c.1003C>T (p.R335C) - ACTG1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-17717G>A r.(?) p.(=) - pathogenic g.79477841G>A g.81510815G>A ACTG1(NM_001199954.2):c.1003C>T (p.R335C) - ACTG1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17710G>C r.(?) p.(=) - likely benign g.79477848G>C g.81510822G>C ACTG1(NM_001199954.2):c.996C>G (p.P332=) - ACTG1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17710G>T r.(?) p.(=) - likely benign g.79477848G>T - ACTG1(NM_001199954.2):c.996C>A (p.P332=) - ACTG1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17709G>C r.(?) p.(=) - VUS g.79477849G>C - - - ACTG1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17692dup r.(?) p.(=) - likely benign g.79477866dup g.81510840dup ACTG1(NM_001199954.2):c.985-5dupT - ACTG1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17690A>C r.(?) p.(=) - likely benign g.79477868A>C - ACTG1(NM_001614.5):c.985-9T>G - ACTG1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-17612G>A r.(?) p.(=) - likely benign g.79477946G>A g.81510920G>A ACTG1(NM_001199954.1):c.984+7C>T (p.(=)) - ACTG1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-17601A>G r.(?) p.(=) - likely benign g.79477957A>G g.81510931A>G - - ACTG1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17566C>G r.(?) p.(=) - likely benign g.79477992C>G - - - ACTG1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-17551G>A r.(?) p.(=) - benign g.79478007G>A g.81510981G>A ACTG1(NM_001199954.2):c.930C>T (p.A310=) - ACTG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17551G>A r.(?) p.(=) - benign g.79478007G>A g.81510981G>A ACTG1(NM_001199954.2):c.930C>T (p.A310=) - ACTG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17541G>A r.(?) p.(=) - VUS g.79478017G>A g.81510991G>A ACTG1(NM_001199954.2):c.920C>T (p.P307L) - ACTG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17541G>A r.(?) p.(=) - VUS g.79478017G>A - ACTG1(NM_001199954.2):c.920C>T (p.P307L) - ACTG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-17539G>A r.(?) p.(=) - benign g.79478019G>A g.81510993G>A ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=) - ACTG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-17539G>A r.(?) p.(=) - benign g.79478019G>A g.81510993G>A ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=) - ACTG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17539G>A r.(?) p.(=) - benign g.79478019G>A g.81510993G>A ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=) - ACTG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17498G>A r.(?) p.(=) - likely benign g.79478060G>A g.81511034G>A ACTG1(NM_001199954.2):c.877C>T (p.L293=) - ACTG1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17495C>T r.(?) p.(=) - VUS g.79478063C>T g.81511037C>T - - ACTG1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17488G>C r.(?) p.(=) - VUS g.79478070G>C g.81511044G>C ACTG1(NM_001199954.2):c.867C>G (p.I289M) - ACTG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17480C>T r.(?) p.(=) - VUS g.79478078C>T g.81511052C>T - - ACTG1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-17474A>G r.(?) p.(=) - likely pathogenic g.79478084A>G g.81511058A>G - - ACTG1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-17463G>C r.(?) p.(=) - pathogenic g.79478095G>C g.81511069G>C - - ACTG1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-17454G>A r.(?) p.(=) - pathogenic g.79478104G>A g.81511078G>A - - ACTG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17451G>A r.(?) p.(=) - VUS g.79478107G>A - - - ACTG1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17438C>T r.(?) p.(=) - VUS g.79478120C>T - ACTG1(NM_001199954.2):c.817G>A (p.G273S) - ACTG1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17417G>A r.(?) p.(=) - likely benign g.79478141G>A g.81511115G>A ACTG1(NM_001199954.2):c.803-7C>T - ACTG1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17359G>A r.(?) p.(=) - likely benign g.79478199G>A g.81511173G>A ACTG1(NM_001199954.2):c.802+15C>T - ACTG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17328G>C r.(?) p.(=) - VUS g.79478230G>C g.81511204G>C - - ACTG1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-17322C>T r.(?) p.(=) - benign g.79478236C>T g.81511210C>T ACTG1(NM_001199954.2):c.780G>A (p.A260=) - ACTG1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-17315G>A r.(?) p.(=) - pathogenic g.79478243G>A g.81511217G>A ACTG1(NM_001199954.3):c.773C>T (p.P258L) - ACTG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-17315G>A r.(?) p.(=) - pathogenic g.79478243G>A - ACTG1(NM_001199954.3):c.773C>T (p.P258L) - ACTG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.-17308G>A r.(?) p.(=) - pathogenic g.79478250G>A g.81511224G>A - - ACTG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17271G>A r.(?) p.(=) - likely benign g.79478287G>A g.81511261G>A ACTG1(NM_001199954.2):c.729C>T (p.P243=) - ACTG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17271G>A r.(?) p.(=) - benign g.79478287G>A g.81511261G>A ACTG1(NM_001199954.2):c.729C>T (p.P243=) - ACTG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17263C>G r.(?) p.(=) - VUS g.79478295C>G g.81511269C>G ACTG1(NM_001199954.2):c.721G>C (p.E241Q) - ACTG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-17263C>G r.(?) p.(=) - likely benign g.79478295C>G - ACTG1(NM_001199954.2):c.721G>C (p.E241Q) - ACTG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-17249A>G r.(?) p.(=) - pathogenic g.79478309A>G g.81511283A>G - - ACTG1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17243G>A r.(?) p.(=) - VUS g.79478315G>A g.81511289G>A ACTG1(NM_001199954.3):c.701C>T (p.S234F) - ACTG1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-17243G>A r.(?) p.(=) - VUS g.79478315G>A - ACTG1(NM_001199954.3):c.701C>T (p.S234F) - ACTG1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17238_-17236del r.(?) p.(=) - VUS g.79478320_79478322del g.81511294_81511296del ACTG1(NM_001199954.2):c.699_701delCTC (p.S235del) - ACTG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17235T>C r.(?) p.(=) - benign g.79478323T>C g.81511297T>C ACTG1(NM_001199954.2):c.693A>G (p.A231=) - ACTG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17226G>A r.(?) p.(=) - likely benign g.79478332G>A g.81511306G>A ACTG1(NM_001199954.2):c.684C>T (p.A228=) - ACTG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-17200dup r.(?) p.(=) - likely pathogenic g.79478358dup g.81511332dup ACTG1(NM_001199954.2):c.658dupG (p.A220Gfs*34) - ACTG1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17196G>A r.(?) p.(=) - likely benign g.79478362G>A - ACTG1(NM_001199954.2):c.654C>T (p.Y218=) - ACTG1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17178G>T r.(?) p.(=) - likely benign g.79478380G>T g.81511354G>T ACTG1(NM_001199954.2):c.636C>A (p.I212=) - ACTG1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17154G>A r.(?) p.(=) - likely benign g.79478404G>A g.81511378G>A ACTG1(NM_001199954.2):c.612C>T (p.A204=) - ACTG1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-17140A>G r.(?) p.(=) - likely pathogenic g.79478418A>G g.81511392A>G - - ACTG1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17136G>A r.(?) p.(=) - likely benign g.79478422G>A g.81511396G>A ACTG1(NM_001199954.2):c.594C>T (p.Y198=) - ACTG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17133G>C r.(?) p.(=) - likely benign g.79478425G>C g.81511399G>C ACTG1(NM_001199954.2):c.591C>G (p.G197=) - ACTG1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17106G>A r.(?) p.(=) - likely benign g.79478452G>A g.81511426G>A ACTG1(NM_001199954.2):c.564C>T (p.Y188=) - ACTG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-17090C>T r.(?) p.(=) - likely pathogenic g.79478468C>T g.81511442C>T - - ACTG1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17089G>A r.(?) p.(=) - VUS g.79478469G>A - ACTG1(NM_001199954.2):c.547C>T (p.R183W) - ACTG1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17088G>A r.(?) p.(=) - likely benign g.79478470G>A g.81511444G>A ACTG1(NM_001199954.2):c.546C>T (p.G182=) - ACTG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17073A>G r.(?) p.(=) - likely benign g.79478485A>G g.81511459A>G ACTG1(NM_001199954.2):c.531T>C (p.R177=) - ACTG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17057G>C r.(?) p.(=) - VUS g.79478501G>C g.81511475G>C - - ACTG1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17053G>A r.(?) p.(=) - VUS g.79478505G>A g.81511479G>A - - ACTG1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17049G>A r.(?) p.(=) - likely benign g.79478509G>A g.81511483G>A ACTG1(NM_001199954.2):c.507C>T (p.Y169=) - ACTG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17027G>A r.(?) p.(=) - VUS g.79478531G>A - - - ACTG1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-17018A>G r.(?) p.(=) - VUS g.79478540A>G g.81511514A>G - - ACTG1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-17013G>A r.(?) p.(=) - likely benign g.79478545G>A g.81511519G>A ACTG1(NM_001199954.2):c.471C>T (p.D157=) - ACTG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-16972C>G r.(?) p.(=) - likely pathogenic g.79478586C>G g.81511560C>G - - ACTG1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-16972_-16965del r.(?) p.(=) - VUS g.79478586_79478593del - ACTG1(NM_001614.5):c.428_435delACGCCTCT (p.Y143Wfs*50) - ACTG1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-16956G>A r.(?) p.(=) - likely benign g.79478602G>A g.81511576G>A ACTG1(NM_001199954.2):c.414C>T (p.A138=) - ACTG1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16941G>A r.(?) p.(=) - likely benign g.79478617G>A g.81511591G>A ACTG1(NM_001199954.2):c.399C>T (p.Y133=) - ACTG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-16941G>A r.(?) p.(=) - benign g.79478617G>A g.81511591G>A ACTG1(NM_001199954.2):c.399C>T (p.Y133=) - ACTG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-16941G>T r.(?) p.(=) - VUS g.79478617G>T g.81511591G>T ACTG1(NM_001199954.2):c.399C>A (p.Y133*) - ACTG1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16932C>T r.(?) p.(=) - likely benign g.79478626C>T - ACTG1(NM_001199954.2):c.390G>A (p.P130=) - ACTG1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16643C>T r.(?) p.(=) - likely benign g.79478915C>T g.81511889C>T ACTG1(NM_001199954.2):c.363+14G>A - ACTG1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-16642G>T r.(?) p.(=) - benign g.79478916G>T g.81511890G>T ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A - ACTG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-16642G>T r.(?) p.(=) - benign g.79478916G>T g.81511890G>T ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A - ACTG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-16642G>T r.(?) p.(=) - benign g.79478916G>T g.81511890G>T ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A - ACTG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-16619T>A r.(?) p.(=) - pathogenic g.79478939T>A g.81511913T>A - - ACTG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-16601G>A r.(?) p.(=) - pathogenic g.79478957G>A g.81511931G>A - - ACTG1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-16589dup r.(?) p.(=) - VUS g.79478969dup g.81511943dup ACTG1(NM_001199954.2):c.328dupC (p.L110Pfs*16) - ACTG1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16575C>T r.(?) p.(=) - likely benign g.79478983C>T g.81511957C>T ACTG1(NM_001199954.2):c.309G>A (p.V103=) - ACTG1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-16532G>A r.(?) p.(=) - likely pathogenic g.79479026G>A g.81512000G>A - - ACTG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-16528G>A r.(?) p.(=) - VUS g.79479030G>A g.81512004G>A - - ACTG1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-16521G>A r.(?) p.(=) - likely benign g.79479037G>A g.81512011G>A ACTG1(NM_001199954.2):c.255C>T (p.I85=) - ACTG1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-16503C>A r.(?) p.(=) - VUS g.79479055C>A g.81512029C>A ACTG1(NM_001199954.1):c.237G>T (p.(Trp79Cys)) - ACTG1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-16497G>A r.(?) p.(=) - likely benign g.79479061G>A g.81512035G>A ACTG1(NM_001199954.2):c.231C>T (p.T77=) - ACTG1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16494G>A r.(?) p.(=) - likely benign g.79479064G>A g.81512038G>A ACTG1(NM_001199954.2):c.228C>T (p.V76=) - ACTG1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16491G>A r.(?) p.(=) - likely benign g.79479067G>A g.81512041G>A ACTG1(NM_001199954.2):c.225C>T (p.I75=) - ACTG1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-16478A>G r.(?) p.(=) - likely pathogenic g.79479080A>G g.81512054A>G ACTG1(NM_001614.3):c.212T>C (p.(Ile71Thr)) - ACTG1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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