Unique variants in the CASK gene

Information The variants shown are described using the NM_003688.3 transcript reference sequence.

127 entries on 2 pages. Showing entries 1 - 100.
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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.-1959630_278+109del - - - pathogenic g.41646322_43741871del - - - CASK_000037 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 3 _1_1i c.(?_-46)_(59+1_60-1)del r.(?), r.? ?, p.? - likely pathogenic g.(41712481_41782182)_(41782287_?)del g.(41853228_41922929)_(41923034_?)del del exon 1 - CASK_000095 - - - - Germline - - - - - Enza Maria Valente
+/. 1 - c.1A>G r.(?) p.(Met1?) - pathogenic g.41782241T>C g.41922988T>C - - CASK_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.20_27del r.(?) p.(Leu7Argfs*35) - pathogenic g.41782215_41782222del g.41922962_41922969del - - CASK_000115 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783362 Germline - 2/2795 individuals - - - Mohammed Faruq
+/. 1 - c.37G>T r.(?) p.(Glu13*) - pathogenic g.41782205C>A g.41922952C>A - - CASK_000021 - - - - Germline/De novo (untested) - - - - - IMGAG
+/. 1 - c.45C>A r.(?) p.(Cys15Ter) - pathogenic g.41782197G>T g.41922944G>T - - CASK_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 1i_2i c.(59+1_60-1)_(172+1_173-1)dup r.? p.? - likely pathogenic g.(41646537_41712367)_(41712481_41782182)dup g.(41787284_41853114)_(41853228_41922929)dup - - CASK_000098 - - - - Germline - - - - - Enza Maria Valente
+?/. 1 - c.62G>A r.(?) p.(Gly21Asp) ACMG pathogenic (dominant) g.41712478C>T g.41853225C>T - - CASK_000131 - - - - Germline yes - - - - Tao Cai
+/. 1 - c.68del r.(?) p.(Phe23Serfs*18) ACMG pathogenic g.41712473del g.41853220del - - CASK_000020 - - - - De novo yes - - - - Bernt Popp
+/. 2 2 c.79C>T r.(?) p.(Arg27Ter) - pathogenic g.41712461G>A g.41853208G>A - - CASK_000062 VKGL data sharing initiative Nederland 0 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.82C>T r.(?) p.(Arg28*) - pathogenic g.41712458G>A g.41853205G>A g.74830C>T - CASK_000099 - - - - De novo - - - - - Enza Maria Valente
+/. 1 - c.109C>T r.(?) p.(Gln37*) - pathogenic g.41712431G>A g.41853178G>A - - CASK_000066 - - ClinVar-000611617 - De novo yes - - - - Francesca Cristofoli
+?/. 1 - c.184G>A r.(?) p.(Glu62Lys) - pathogenic g.41646525C>T g.41787272C>T - - CASK_000130 - - - - Germline yes - - - - Tao Cai
-?/. 2 - c.195C>T r.(?) p.(Ile65=) - likely benign g.41646514G>A g.41787261G>A CASK(NM_003688.3):c.195C>T (p.I65=) - CASK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.279-6T>A r.(=) p.(=) - benign g.41604860A>T g.41745607A>T CASK(NM_003688.3):c.279-6T>A - CASK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 3i_5i c.(278+1_279-1)_(429+1_430-1)del r.? p.? - likely pathogenic g.(41530784_41598636)_(41604855_41646430)del g.(41671531_41739383)_(41745602_41787177)del del exons 4-5 - CASK_000094 - - - - De novo - - - - - Enza Maria Valente
?/. 1 - c.294T>G r.(?) p.(Asp98Glu) - VUS g.41604839A>C g.41745586A>C CASK(NM_003688.3):c.294T>G (p.D98E) - CASK_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.316C>T r.(?) p.(Arg106*) - pathogenic g.41604817G>A g.41745564G>A g.182471C>T - CASK_000100 - - - - De novo - - - - - Enza Maria Valente
-?/. 1 - c.363T>C r.(?) p.(Tyr121=) - likely benign g.41598703A>G g.41739450A>G CASK(NM_003688.3):c.363T>C (p.Y121=) - CASK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.372_373del r.(?) p.(Gln124Hisfs*10) - likely pathogenic g.41598694_41598695del g.41739441_41739442del g.188594_188595del - CASK_000101 - - - - De novo - - - - - Enza Maria Valente
+?/. 1 - c.429+1G>A r.spl? p.? - likely pathogenic g.41598636C>T g.41739383C>T - - CASK_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.429+11419A>G r.(=) p.(=) - VUS g.41587218T>C g.41727965T>C D313D - CASK_000070 recurrent, found 24 times PubMed: Tarpey 2009 - - Germline - 24/208 cases - - - Lucy Raymond
?/. 1 - c.429+11487_429+11488del r.(=) p.(=) - VUS g.41587153_41587154del g.41727900_41727901del CASK(NM_001126054.2):c.429+11487_429+11488del (p.(=)) - CASK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.429+11528T>C r.(=) p.(=) - likely benign g.41587109A>G - GPR82(NM_080817.4):c.830A>G (p.Q277R) - CASK_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.429+12291T>G r.(=) p.(=) - likely benign g.41586346A>C - GPR82(NM_080817.4):c.67A>C (p.I23L) - CASK_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.429+12333G>T r.(=) p.(=) - VUS g.41586304C>A g.41727051C>A CASK(NM_001126054.2):c.429+12333G>T (p.(=)) - CASK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.430-25053G>A r.(=) p.(=) - VUS g.41555836C>T g.41696583C>T GPR34(NM_001097579.1):c.950C>T (p.(Ser317Phe)) - CASK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.430-24702T>C r.(=) p.(=) - VUS g.41555485A>G g.41696232A>G GPR34(NM_001097579.2):c.599A>G (p.N200S) - CASK_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.430-24576C>G r.(=) p.(=) - likely benign g.41555359G>C g.41696106G>C GPR34(NM_001097579.1):c.473G>C (p.(Arg158Pro)) - CASK_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.430-18160A>G r.(=) p.(=) - VUS g.41548943T>C g.41689690T>C - - CASK_000006, GPR34_000007 - - - - Germline - - - - - Yu Sun
-/. 1 - c.430-257T>A r.(=) p.(=) - benign g.41531040A>T g.41671787A>T CASK(NM_003688.3):c.430-257T>A - CASK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 5i_6i c.(429+1_430-1)_(532+1_533-1)del r.? p.? - likely pathogenic g.(41524706_41530680)_(41530784_41598636)del g.(41665453_41671427)_(41671531_41739383)del del exon 6 - CASK_000096 - - - - Germline - - - - - Enza Maria Valente
-?/. 1 - c.444C>T r.(?) p.(Leu148=) - likely benign g.41530769G>A g.41671516G>A CASK(NM_001367721.1):c.444C>T (p.L148=) - CASK_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.481G>A r.(?) p.(Gly161Arg) - likely pathogenic g.41530732C>T g.41671479C>T - - CASK_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.532+14A>T r.(=) p.(=) - likely benign g.41530667T>A g.41671414T>A CASK(NM_003688.3):c.532+14A>T - CASK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.532+15A>T r.(=) p.(=) - likely benign g.41530666T>A g.41671413T>A CASK(NM_003688.3):c.532+15A>T - CASK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.532+24_532+25dup r.(=) p.(=) - VUS g.41530666_41530667dup g.41671413_41671414dup - - CASK_000005 - - - - Germline - - - - - Yu Sun
-/. 1 - c.532+25del r.(=) p.(=) - benign g.41530667del g.41671414del CASK(NM_003688.3):c.532+25delA - CASK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 5 - c.532+25dup r.(=) p.(=) - likely benign, VUS g.41530667dup g.41671414dup CASK(NM_003688.3):c.532+13delTinsTA - CASK_000010, CASK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Groningen
-/. 1 - c.532+114C>A r.(=) p.(=) - benign g.41530567G>T g.41671314G>T CASK(NM_003688.3):c.532+114C>A - CASK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 - c.532+2768_831+9967dup r.? p.? - pathogenic g.41509725_41527913dup g.41650472_41668660dup - - CASK_000012 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.626T>C r.(?) p.(Leu209Pro) - likely pathogenic g.41524612A>G g.41665359A>G - - CASK_000067 - - ClinVar-000611618 - De novo - - - - - Francesca Cristofoli
?/. 1 - c.638T>G r.(?) p.(Leu213Arg) - VUS g.41524600A>C g.41665347A>C - - CASK_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.708+1G>A r.spl? p.? - pathogenic g.41524529C>T g.41665276C>T - - CASK_000114 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783368 Germline - 2/2795 individuals - - - Mohammed Faruq
+/. 1 - c.732del r.(?) p.(His244Glnfs*9) - pathogenic g.41519791del - CASK(NM_001367721.1):c.732delT (p.H244Qfs*9) - CASK_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.763C>T r.(?) p.(Arg255Cys) - pathogenic g.41519760G>A g.41660507G>A - - CASK_000014 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 ? c.802T>C r.(?) p.(Tyr268His) - VUS g.41519721A>G g.41660468A>G - - CASK_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - - - Lucy Raymond
./. 1 - c.831+1G>A r.spl? p.? - pathogenic g.41519691C>T g.41660438C>T - - CASK_000013 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 8i_10i c.(831+1_832-1)_(1015+1_1016-1)del r.? p.? - likely pathogenic g.(41481888_41485856)_(41495915_41519691)del g.(41622635_41626603)_(41636662_41660438)del del exons 9-10 - CASK_000097 - - - - Germline - - - - - Enza Maria Valente
+?/. 1 - c.846C>G r.(?) p.(Tyr282*) - pathogenic g.41495900G>C g.41636647G>C g.291388C>G - CASK_000102 - - - - Germline - - - - - Enza Maria Valente
+?/. 1 - c.858T>G r.(?) p.(Ile286Met) - pathogenic g.41495888A>C g.41636635A>C - - CASK_000129 - - - - Germline - - - - - Tao Cai
+/. 1 - c.915+1G>A r.spl? p.? - pathogenic g.41495830C>T g.41636577C>T - - CASK_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.992T>C r.(?) p.(Phe331Ser) - VUS g.41485880A>G - CASK(NM_001367721.1):c.992T>C (p.F331S) - CASK_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.996_997insT r.(?) p.(Glu333*) - likely pathogenic g.41485875_41485876insA g.41626622_41626623insA g.301412_301413insT - CASK_000103 - - - - Germline - - - - - Enza Maria Valente
+?/. 1 - c.1015+1G>A r.spl? p.? - pathogenic g.41485856C>T g.41626603C>T g.301432G>A - CASK_000104 - - - - De novo - - - - - Enza Maria Valente
?/. 1 - c.1016-247dup r.(=) p.(=) - VUS g.41482151dup g.41622898dup - - CASK_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1016-246del r.(=) p.(=) - VUS g.41482133del g.41622880del - - CASK_000009 - - - - Germline - - - - - Yu Sun
-/., -?/. 3 - c.1034-6C>T r.(=) p.(=) - benign, likely benign g.41469284G>A g.41610031G>A CASK(NM_001126054.2):c.1034-6C>T (p.(=)), CASK(NM_003688.3):c.1034-6C>T - CASK_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1076C>T r.(?) p.(Ala359Val) - VUS g.41469236G>A - CASK(NM_001126054.2):c.1076C>T (p.(Ala359Val)) - CASK_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1077G>A r.(?) p.(Ala359=) - likely benign g.41469235C>T g.41609982C>T CASK(NM_003688.3):c.1077G>A (p.A359=) - CASK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1104A>G r.(?) p.(Leu368=) - likely benign g.41469208T>C g.41609955T>C CASK(NM_003688.3):c.1104A>G (p.L368=) - CASK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1105G>C r.(?) p.(Asp369His) - likely pathogenic g.41469207C>G g.41609954C>G - - CASK_000128 - - - - Germline - - - - - Tao Cai
+/. 1 - c.1106_1107insCTCT r.(?) p.(Phe370Serfs*20) - pathogenic g.41469205_41469206insAGAG g.41609952_41609953insAGAG - - CASK_000127 - - - - Germline - - - - - Tao Cai
-?/. 1 - c.1156-15T>G r.(=) p.(=) - likely benign g.41448860A>C g.41589607A>C CASK(NM_003688.3):c.1156-15T>G - CASK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1177_1178del r.(?) p.(Lys393ValfsTer28) - likely pathogenic g.41448824_41448825del g.41589571_41589572del - - CASK_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1233+2T>C r.spl? p.? - VUS g.41448766A>G - - - CASK_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1233+18T>C r.(=) p.(=) - benign g.41448750A>G g.41589497A>G CASK(NM_003688.3):c.1233+18T>C - CASK_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1314+18T>C r.(=) p.(=) - likely benign g.41446142A>G g.41586889A>G CASK(NM_003688.3):c.1314+18T>C - CASK_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 14i c.1315-7A>G r.(1314_1315ins1315-6_1315-1) p.(Als439Hisfs2*) - pathogenic g.41437788T>C g.41578535T>C - - CASK_000065 - - ClinVar-000611616 - De novo yes - - - - Francesca Cristofoli
-?/. 1 ? c.1392C>T r.(?) p.(Thr464=) - likely benign g.41437704G>A g.41578451G>A T464T - CASK_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - - - - - Lucy Raymond
?/. 1 - c.1408G>A r.(?) p.(Gly470Ser) - VUS g.41437688C>T - CASK(NM_001367721.1):c.1408G>A (p.G470S) - CASK_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1420G>T r.(?) p.(Glu474Ter) - pathogenic g.41437676C>A g.41578423C>A - - CASK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1432G>T r.(?) p.(Gly478Ter) - pathogenic g.41437664C>A g.41578411C>A - - CASK_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1438A>G r.(?) p.(Met480Val) - VUS g.41437658T>C g.41578405T>C CASK(NM_003688.3):c.1438A>G (p.M480V) - CASK_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.1466G>A r.(?) p.(Arg489Gln) - likely pathogenic g.41437630C>T - CASK(NM_003688.3):c.1466G>A - CASK_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1499_1500del r.(?) p.(Pro500Hisfs*9) - pathogenic g.41437596_41437597del g.41578343_41578344del g.349691_349692del - CASK_000105 - - - - De novo - - - - - Enza Maria Valente
+?/. 1 - c.1501dup r.(?) p.(Met501Asnfs*9) - pathogenic g.41437596dup g.41578343dup g.349693dup - CASK_000106 - - - - De novo - - - - - Enza Maria Valente
-?/. 1 - c.1504-6del r.(=) p.(=) - likely benign g.41429014del g.41569761del CASK(NM_003688.3):c.1504-6delT - CASK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1504-3C>T r.spl? p.? - VUS g.41429002G>A g.41569749G>A CASK(NM_003688.3):c.1504-3C>T - CASK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1504-1G>A r.spl? p.? - pathogenic g.41429000C>T g.41569747C>T - - CASK_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1562G>A r.(?) p.(Gly521Glu) - likely pathogenic g.41428941C>T g.41569688C>T - - CASK_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1582G>A r.(?) p.(Gly528Ser) - VUS g.41428921C>T g.41569668C>T CASK(NM_003688.3):c.1582G>A (p.G528S) - CASK_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1583-7T>G r.(=) p.(=) - likely benign g.41420904A>C g.41561651A>C CASK(NM_003688.3):c.1583-7T>G - CASK_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., ./. 2 - c.1609C>T r.(?) p.(Arg537*), p.(Arg537Ter) - pathogenic g.41420871G>A g.41561618G>A g.366417C>T - CASK_000011 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen, Enza Maria Valente
+?/. 1 - c.1610del r.(?) p.(Arg537Glnfs*81) - pathogenic g.41420870del g.41561617del g.366418del - CASK_000107 - - - - De novo - - - - - Enza Maria Valente
+/. 1 - c.1641_1644del r.(?) p.(Thr548Trpfs*69) - pathogenic g.41420838_41420841del g.41561585_41561588del - - CASK_000072 - - - - Unknown - - - - - IMGAG
+?/. 1 - c.1668+2_1668+3insTT r.spl? p.? - likely pathogenic g.41420810_41420811insAA g.41561557_41561558insAA - - CASK_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1678_1679insA r.(?) p.(Arg560Glnfs*20) ACMG likely pathogenic g.41419090_41419091insT g.41559837_41559838insT - - CASK_000118 ACMG grading: PVS1,PM2 - - - Germline - - - - - Andreas Laner
-?/. 1 - c.1686T>C r.(?) p.(Ser562=) - likely benign g.41419083A>G g.41559830A>G CASK(NM_003688.3):c.1686T>C (p.S562=) - CASK_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1794C>T r.(?) p.(Asn598=) - likely benign g.41416297G>A g.41557044G>A CASK(NM_001367721.1):c.1794C>T (p.N598=) - CASK_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1806+51A>C r.(=) p.(=) - VUS g.41416234T>G g.41556981T>G - - CASK_000018 - - - - Germline - - - - - Yu Sun
+/., ./. 2 - c.1837C>T r.(?) p.(Arg613Ter) - pathogenic g.41414858G>A g.41555605G>A CASK(NM_003688.3):c.1837C>T (p.R613*) - CASK_000016 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
-?/. 1 - c.1843-17G>A r.(=) p.(=) - likely benign g.41413185C>T g.41553932C>T CASK(NM_003688.3):c.1843-17G>A - CASK_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1852A>G r.(?) p.(Arg618Gly) - likely pathogenic g.41413159T>C g.41553906T>C g.374129A>G - CASK_000108 - - - - De novo - - - - - Enza Maria Valente
+?/. 1 - c.1853G>A r.(?) p.(Arg618Lys) - likely pathogenic g.41413158C>T g.41553905C>T - - CASK_000126 - - - - Germline - - - - - Tao Cai
+/. 1 19 c.1869T>G r.(?) p.(Tyr623*) - pathogenic (dominant) g.41413142A>C g.41553889A>C - - CASK_000071 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
./. 1 - c.1874C>T r.(?) p.(Pro625Leu) - pathogenic g.41413137G>A g.41553884G>A - - CASK_000015 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1970G>A r.(?) p.(Trp657*) - pathogenic g.41413041C>T g.41553788C>T g.374247G>A - CASK_000109 - - - - De novo - - - - - Enza Maria Valente
+?/. 1 - c.1993A>G r.(?) p.(Lys665Glu) - likely pathogenic g.41413018T>C g.41553765T>C - - CASK_000125 - - - - Germline - - - - - Tao Cai
-?/. 1 - c.2039+15G>A r.(=) p.(=) - likely benign g.41412957C>T g.41553704C>T CASK(NM_003688.3):c.2039+15G>A - CASK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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