Full data view for gene CASQ2

Information The variants shown are described using the NM_001232.3 transcript reference sequence.

224 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-36= r.(=) p.(=) Unknown - benign g.116311198T>C - CASQ2(NM_001232.4):c.-36A>G - CASQ2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21G>A r.(?) p.(=) Unknown - benign g.116311183C>T g.115768562C>T CASQ2(NM_001232.3):c.-21G>A - CASQ2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-20A>T r.(?) p.(=) Unknown - likely benign g.116311182T>A - CASQ2(NM_001232.4):c.-20A>T - CASQ2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1A>G r.(?) p.(=) Unknown - VUS g.116311163T>C - CASQ2(NM_001232.4):c.-1A>G - CASQ2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Liu 2008 - - Germline - - - - - DNA SEQ - - CPVT2 18543230-? PubMed: Liu 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
-?/. - c.22A>T r.(?) p.(Ile8Phe) Unknown - likely benign g.116311141T>A g.115768520T>A CASQ2(NM_001232.3):c.22A>T (p.I8F) - CASQ2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44C>G r.(?) p.(Ser15Cys) Unknown - VUS g.116311119G>C g.115768498G>C CASQ2(NM_001232.4):c.44C>G (p.S15C) - CASQ2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.62del r.(?) p.(Glu21Glyfs*15) Unknown - pathogenic g.116311101del g.115768480del 62delA - CASQ2_000029 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2002 - - Germline - - - - - DNA SEQ - - CPVT2 12386154-? PubMed: Postma 2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/? 1 c.62del r.(?) p.(Glu21Glyfs*15) Unknown - pathogenic g.116311101del g.115768480del - - CASQ2_000020 - PubMed: Postma 2002 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
+/. 1 c.97C>T r.(?) p.(Arg33*) Unknown - pathogenic g.116311066G>A g.115768445G>A 97C>T - CASQ2_000028 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2002 - - Germline - - - - - DNA SEQ - - CPVT2 12386154-? PubMed: Postma 2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/? 1 c.97C>T r.(?) p.(Arg33*) Unknown - pathogenic g.116311066G>A g.115768445G>A - - CASQ2_000018 - PubMed: Postma 2002 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
+/. 1 c.98G>A r.(?) p.(Arg33Gln) Unknown - pathogenic g.116311065C>T g.115768444C>T 98G>A - CASQ2_000040 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Terentyev 2006 - - Germline - - - - - DNA SEQ - - CPVT2 16601229-? PubMed: Terentyev 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
?/. - c.98G>A r.(?) p.(Arg33Gln) Unknown - VUS g.116311065C>T g.115768444C>T - - CASQ2_000040 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 245 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - - - - - 1 Ellika Sahlin
+/? 1 c.98G>A r.(?) p.(Arg33Gln) Unknown - pathogenic g.116311065C>T g.115768444C>T - - CASQ2_000017 - PubMed: Terentyev 2006 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
-?/. - c.100G>A r.(?) p.(Val34Met) Unknown - likely benign g.116311063C>T - - - CASQ2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114C>T r.(?) p.(Ser38=) Unknown - benign g.116311049G>A g.115768428G>A CASQ2(NM_001232.4):c.114C>T (p.S38=) - CASQ2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.115G>A r.(?) p.(Glu39Lys) Unknown - likely pathogenic g.116311048C>T - CASQ2(NM_001232.4):c.115G>A (p.E39K) - CASQ2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141G>C r.(?) p.(Lys47Asn) Unknown - VUS g.116311022C>G g.115768401C>G CASQ2(NM_001232.3):c.141G>C (p.K47N), CASQ2(NM_001232.4):c.141G>C (p.K47N) - CASQ2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141G>C r.(?) p.(Lys47Asn) Unknown - VUS g.116311022C>G g.115768401C>G CASQ2(NM_001232.3):c.141G>C (p.K47N), CASQ2(NM_001232.4):c.141G>C (p.K47N) - CASQ2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141G>C r.(?) p.(Lys47Asn) Unknown - VUS g.116311022C>G g.115768401C>G CASQ2(NM_001232.3):c.141G>C (p.K47N), CASQ2(NM_001232.4):c.141G>C (p.K47N) - CASQ2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.164A>G r.(?) p.(Tyr55Cys) Unknown - pathogenic g.116310999T>C g.115768378T>C 164A>G - CASQ2_000039 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: deLa Fuente 2008 - - Germline - - - - - DNA SEQ - - CPVT2 18684293-? PubMed: deLa Fuente 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.164A>G r.(?) p.(Tyr55Cys) Unknown - pathogenic g.116310999T>C g.115768378T>C CASQ2(NM_001232.4):c.164A>G (p.Y55C) - CASQ2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.164A>G r.(?) p.(Tyr55Cys) Unknown - likely pathogenic g.116310999T>C g.115768378T>C - - CASQ2_000005 - - - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 Joel Lunardi
+/? 1 c.164A>G r.(?) p.(Tyr55Cys) Unknown - pathogenic g.116310999T>C g.115768378T>C - - CASQ2_000016 - PubMed: de la Fuente 2008 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
?/. - c.173A>T r.(?) p.(Glu58Val) Unknown - VUS g.116310990T>A - CASQ2(NM_001232.3):c.173A>T (p.E58V) - CASQ2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173A>T r.(?) p.(Glu58Val) Unknown - VUS g.116310990T>A g.115768369T>A - - CASQ2_000134 variant not definitively linked to disease Fusco 2042, submitted - rs764732977 Germline - - - - - DNA SEQ-NG blood - CM Fam294Pat314 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
-?/. - c.177G>A r.(?) p.(Pro59=) Unknown - likely benign g.116310986C>T g.115768365C>T CASQ2(NM_001232.3):c.177G>A (p.P59=) - CASQ2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177G>T r.(?) p.(Pro59=) Unknown - likely benign g.116310986C>A - CASQ2(NM_001232.3):c.177G>T (p.P59=) - CASQ2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182C>G r.(?) p.(Ser61Cys) Unknown - VUS g.116310981G>C g.115768360G>C CASQ2(NM_001232.3):c.182C>G (p.S61C) - CASQ2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.189T>A r.(?) p.(Asp63Glu) Unknown - pathogenic g.116310974A>T g.115768353A>T - - CASQ2_000015 4 unaffected relatives did not carry variant PubMed: Chiu 2007 - - Germline - - - - - DNA SEQ - gene panel SRI, FKBP1B, CASQ2, PLN, SLN, CALR3, CAL CMH 17655857-FamOPatII4 PubMed: Chiu 2007 3-generation family, 1 affected; screen cohort 252 unrelated patients F no Australia - - - - - 1 Johan den Dunnen
+/. 1 c.196A>G r.(?) p.(Thr66Ala) Unknown - pathogenic g.116310967T>C g.115768346T>C 196A>G - CASQ2_000038 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Wong 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control 19709828-? PubMed: Wong 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
-/. - c.196A>G r.(?) p.(Thr66Ala) Unknown - benign g.116310967T>C g.115768346T>C CASQ2(NM_001232.3):c.196A>G (p.T66A), CASQ2(NM_001232.4):c.196A>G (p.T66A) - CASQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196A>G r.(?) p.(Thr66Ala) Unknown - benign g.116310967T>C g.115768346T>C CASQ2(NM_001232.3):c.196A>G (p.T66A), CASQ2(NM_001232.4):c.196A>G (p.T66A) - CASQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196A>G r.(?) p.(Thr66Ala) Unknown - benign g.116310967T>C g.115768346T>C CASQ2(NM_001232.3):c.196A>G (p.T66A), CASQ2(NM_001232.4):c.196A>G (p.T66A) - CASQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198G>A r.(?) p.(Thr66=) Unknown - benign g.116310965C>T g.115768344C>T CASQ2(NM_001232.3):c.198G>A (p.T66=), CASQ2(NM_001232.4):c.198G>A (p.T66=) - CASQ2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198G>A r.(?) p.(Thr66=) Unknown - benign g.116310965C>T - CASQ2(NM_001232.3):c.198G>A (p.T66=), CASQ2(NM_001232.4):c.198G>A (p.T66=) - CASQ2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.226A>G r.(?) p.(?) Unknown - pathogenic g.116310937T>C g.115768316T>C 226A>G - CASQ2_000037 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; (variantchecker): A not found at position 490, found G instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Wong 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control 19709828-? PubMed: Wong 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
-/. - c.226G>A r.(?) p.(Val76Met) Unknown - benign g.116310937C>T g.115768316C>T CASQ2(NM_001232.3):c.226G>A (p.V76M), CASQ2(NM_001232.4):c.226G>A (p.V76M) - CASQ2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>A r.(?) p.(Val76Met) Unknown - likely benign g.116310937C>T g.115768316C>T CASQ2(NM_001232.3):c.226G>A (p.V76M), CASQ2(NM_001232.4):c.226G>A (p.V76M) - CASQ2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226G>A r.(?) p.(Val76Met) Unknown - benign g.116310937C>T g.115768316C>T CASQ2(NM_001232.3):c.226G>A (p.V76M), CASQ2(NM_001232.4):c.226G>A (p.V76M) - CASQ2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226G>A r.(?) p.(Val76Met) Unknown - benign g.116310937C>T g.115768316C>T CASQ2(NM_001232.3):c.226G>A (p.V76M), CASQ2(NM_001232.4):c.226G>A (p.V76M) - CASQ2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>A r.(?) p.(Val76Met) Parent #1 - likely benign g.116310937C>T g.115768316C>T - - CASQ2_000095 131 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10801999 Germline - 131/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 131 Mohammed Faruq
-?/. - c.226G>A r.(?) p.(Val76Met) Both (homozygous) - likely benign g.116310937C>T g.115768316C>T - - CASQ2_000095 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10801999 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.234+29G>A r.(=) p.(=) Unknown - benign g.116310900C>T g.115768279C>T CASQ2(NM_001232.3):c.234+29G>A - CASQ2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235-14A>G r.(=) p.(=) Unknown - likely benign g.116287547T>C g.115744926T>C CASQ2(NM_001232.3):c.235-14A>G - CASQ2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257A>G r.(?) p.(His86Arg) Unknown - VUS g.116287511T>C g.115744890T>C - - CASQ2_000150 variant not definitively linked to disease Fusco 2042, submitted RCV001940073 rs372587044 Germline - - - - - DNA SEQ-NG blood - CM Fam225Pat244 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
-?/. - c.270C>A r.(?) p.(Gly90=) Unknown - likely benign g.116287498G>T g.115744877G>T - - CASQ2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.279G>A r.(?) p.(Met93Ile) Unknown - VUS g.116287489C>T g.115744868C>T - - CASQ2_000149 variant not definitively linked to disease Fusco 2042, submitted - - Germline - - - - - DNA SEQ-NG blood - CM Fam28Pat48 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
?/. - c.281T>C r.(?) p.(Val94Ala) Unknown - VUS g.116287487A>G g.115744866A>G CASQ2(NM_001232.3):c.281T>C (p.V94A) - CASQ2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290A>C r.(?) p.(Lys97Thr) Unknown - likely benign g.116287478T>G - - - CASQ2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320-18C>T r.(=) p.(=) Unknown - likely benign g.116283467G>A g.115740846G>A CASQ2(NM_001232.4):c.320-18C>T - CASQ2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i c.320-2A>G r.spl? p.? Both (homozygous) - pathogenic g.116283451T>C g.115740830T>C - - CASQ2_000002 - - - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 Joel Lunardi
+/. 3 c.339_354del r.(?) p.(Ser113Argfs*6) Unknown - pathogenic g.116283418_116283433del g.115740797_115740812del 339_354del - CASQ2_000036 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Raffaele di Barletta 2006 - - Germline - - - - - DNA SEQ - - CPVT2 16908766-? PubMed: Raffaele di Barletta 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/? 3 c.339_354del r.(?) p.(Ser113Argfs*6) Unknown - pathogenic g.116283418_116283433del g.115740797_115740812del 339_354delCCTGTATATTCTTAAG - CASQ2_000019 - PubMed: di Barletta 2006 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
+/? 3 c.381C>T r.(spl?) p.(?) Paternal (confirmed) - pathogenic g.116283388G>A g.115740767G>A - - CASQ2_000003 - - - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 Joel Lunardi
-/. - c.420+6T>C r.(=) p.(=) Unknown - benign g.116283343A>G g.115740722A>G CASQ2(NM_001232.3):c.420+6T>C, CASQ2(NM_001232.4):c.420+6T>C - CASQ2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420+6T>C r.(=) p.(=) Unknown - benign g.116283343A>G g.115740722A>G CASQ2(NM_001232.3):c.420+6T>C, CASQ2(NM_001232.4):c.420+6T>C - CASQ2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420+6T>C r.(=) p.(=) Unknown - benign g.116283343A>G g.115740722A>G CASQ2(NM_001232.3):c.420+6T>C, CASQ2(NM_001232.4):c.420+6T>C - CASQ2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420+6T>C r.(=) p.(=) Unknown - benign g.116283343A>G g.115740722A>G CASQ2(NM_001232.3):c.420+6T>C, CASQ2(NM_001232.4):c.420+6T>C - CASQ2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-24G>C r.(=) p.(=) Unknown - benign g.116280980C>G g.115738359C>G CASQ2(NM_001232.3):c.421-24G>C - CASQ2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-15C>G r.(=) p.(=) Unknown - benign g.116280971G>C g.115738350G>C CASQ2(NM_001232.3):c.421-15C>G, CASQ2(NM_001232.4):c.421-15C>G - CASQ2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.421-15C>G r.(=) p.(=) Unknown - likely benign g.116280971G>C g.115738350G>C CASQ2(NM_001232.3):c.421-15C>G, CASQ2(NM_001232.4):c.421-15C>G - CASQ2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-15C>G r.(=) p.(=) Unknown - benign g.116280971G>C g.115738350G>C CASQ2(NM_001232.3):c.421-15C>G, CASQ2(NM_001232.4):c.421-15C>G - CASQ2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-15C>T r.(=) p.(=) Unknown - benign g.116280971G>A g.115738350G>A CASQ2(NM_001232.4):c.421-15C>T - CASQ2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-14G>A r.(=) p.(=) Unknown - benign g.116280970C>T g.115738349C>T CASQ2(NM_001232.3):c.421-14G>A, CASQ2(NM_001232.4):c.421-14G>A - CASQ2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-14G>A r.(=) p.(=) Unknown - benign g.116280970C>T g.115738349C>T CASQ2(NM_001232.3):c.421-14G>A, CASQ2(NM_001232.4):c.421-14G>A - CASQ2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-7A>T r.(=) p.(=) Unknown - benign g.116280963T>A g.115738342T>A CASQ2(NM_001232.3):c.421-7A>T, CASQ2(NM_001232.4):c.421-7A>T - CASQ2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421-7A>T r.(=) p.(=) Unknown - benign g.116280963T>A g.115738342T>A CASQ2(NM_001232.3):c.421-7A>T, CASQ2(NM_001232.4):c.421-7A>T - CASQ2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.481A>G r.(?) p.(Ile161Val) Unknown - likely benign g.116280896T>C g.115738275T>C CASQ2(NM_001232.3):c.481A>G (p.I161V) - CASQ2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493del r.(?) p.(Ile165SerfsTer45) Unknown - pathogenic g.116280884del g.115738263del CASQ2(NM_001232.3):c.493delA (p.I165Sfs*45) - CASQ2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.500T>A r.(?) p.(Leu167His) Unknown - pathogenic g.116280877A>T g.115738256A>T 500T>A - CASQ2_000035 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Raffaele di Barletta 2006 - - Germline - - - - - DNA SEQ - - CPVT2 16908766-? PubMed: Raffaele di Barletta 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/? 4 c.500T>A r.(?) p.(Leu167His) Unknown - pathogenic g.116280877A>T g.115738256A>T - - CASQ2_000014 - PubMed: di Barletta 2006 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
+/. 4 c.529G>C r.(?) p.(Glu177Gln) Unknown - pathogenic g.116280848C>G g.115738227C>G 529G>C - CASQ2_000034 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Wong 2009 - - Germline - - - - - DNA SEQ - - CPVT2 19709828-? PubMed: Wong 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. 4i c.IVS4+1G>A r.spl? p.(?) Unknown - pathogenic g.116280844C>T g.115738223C>T IVS4+1G>A - CASQ2_000033 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; (variantchecker): Intronic position given for a non-genomic reference sequence. Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Postma 2002 - - Germline - - - - - DNA SEQ - - CPVT2 12386154-? PubMed: Postma 2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
-/. - c.532+6T>C r.(=) p.(=) Unknown - benign g.116280839A>G g.115738218A>G CASQ2(NM_001232.4):c.532+6T>C - CASQ2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.532+25G>A r.(=) p.(=) Unknown - benign g.116280820C>T g.115738199C>T CASQ2(NM_001232.3):c.532+25G>A - CASQ2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538A>G r.(?) p.(Lys180Glu) Unknown - VUS g.116275590T>C g.115732969T>C CASQ2(NM_001232.4):c.538A>G (p.K180E) - CASQ2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>A r.(?) p.(Lys180=) Unknown - likely benign g.116275588C>T g.115732967C>T CASQ2(NM_001232.3):c.540G>A (p.K180=) - CASQ2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>A r.(?) p.(Lys180=) Unknown - likely benign g.116275588C>T - CASQ2(NM_001232.3):c.540G>A (p.K180=) - CASQ2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.546del r.(?) p.(Phe182Leufs*28) Maternal (confirmed) - pathogenic g.116275585del g.115732964del - - CASQ2_000004 - - - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 Joel Lunardi
+/? 5 c.567C>G r.(?) p.(Phe189Leu) Unknown - pathogenic g.116275561G>C g.115732940G>C - - CASQ2_000013 - PubMed: Liu 2008 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
-?/. - c.567C>G r.(?) p.(Phe189Leu) Unknown - likely benign g.116275561G>C g.115732940G>C CASQ2(NM_001232.3):c.567C>G (p.F189L), CASQ2(NM_001232.4):c.567C>G (p.F189L) - CASQ2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567C>G r.(?) p.(Phe189Leu) Unknown - likely benign g.116275561G>C g.115732940G>C CASQ2(NM_001232.3):c.567C>G (p.F189L), CASQ2(NM_001232.4):c.567C>G (p.F189L) - CASQ2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.567C>G r.(?) p.(Phe189Leu) Unknown - VUS g.116275561G>C - CASQ2(NM_001232.3):c.567C>G (p.F189L), CASQ2(NM_001232.4):c.567C>G (p.F189L) - CASQ2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.603del r.(?) p.(Val203Leufs*7) Unknown - pathogenic g.116275527del g.115732906del - - CASQ2_000006 - - - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 Joel Lunardi
-/. - c.607-25T>G r.(=) p.(=) Unknown - benign g.116269768A>C g.115727147A>C CASQ2(NM_001232.3):c.607-25T>G - CASQ2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.618A>C r.(?) p.(Lys206Asn) Unknown - pathogenic g.116269732T>G g.115727111T>G 618A>C - CASQ2_000032 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Kirchhhefer 2010 - - Germline - - - - - DNA SEQ - - CPVT2 20302875-? PubMed: Kirchhhefer 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/? 6 c.618A>C r.(?) p.(Lys206Asn) Unknown - pathogenic g.116269732T>G g.115727111T>G - - CASQ2_000012 - PubMed: Kirchhefer 2010 - - Unknown - - - - - DNA SEQ - - CPVT2 - - - - - - - - - - - 1 LOVD
?/. - c.618A>C r.(?) p.(Lys206Asn) Unknown - VUS g.116269732T>G - CASQ2(NM_001232.4):c.618A>C (p.K206N) - CASQ2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650A>G r.(?) p.(Tyr217Cys) Unknown - VUS g.116269700T>C - CASQ2(NM_001232.4):c.650A>G (p.Y217C) - CASQ2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652G>A r.(?) p.(Glu218Lys) Unknown - VUS g.116269698C>T g.115727077C>T CASQ2(NM_001232.4):c.652G>A (p.E218K) - CASQ2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652G>A r.(?) p.(Glu218Lys) Unknown - VUS g.116269698C>T g.115727077C>T CASQ2(NM_001232.4):c.652G>A (p.E218K) - CASQ2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693T>C r.(?) p.(Pro231=) Unknown - likely benign g.116269657A>G - CASQ2(NM_001232.3):c.693T>C (p.P231=) - CASQ2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730C>T r.(?) p.(His244Tyr) Unknown - likely benign g.116269620G>A g.115726999G>A CASQ2(NM_001232.4):c.730C>T (p.H244Y) - CASQ2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.731A>G r.(?) p.(His244Arg) Unknown - benign g.116269619T>C g.115726998T>C CASQ2(NM_001232.3):c.731A>G (p.H244R, p.(His244Arg)), CASQ2(NM_001232.4):c.731A>G (p.H244R) - CASQ2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.731A>G r.(?) p.(His244Arg) Unknown - benign g.116269619T>C g.115726998T>C CASQ2(NM_001232.3):c.731A>G (p.H244R, p.(His244Arg)), CASQ2(NM_001232.4):c.731A>G (p.H244R) - CASQ2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.731A>G r.(?) p.(His244Arg) Unknown - benign g.116269619T>C g.115726998T>C CASQ2(NM_001232.3):c.731A>G (p.H244R, p.(His244Arg)), CASQ2(NM_001232.4):c.731A>G (p.H244R) - CASQ2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.731A>G r.(?) p.(His244Arg) Unknown - pathogenic g.116269619T>C g.115726998T>C - - CASQ2_000011 - PubMed: Hoedemaekers 2010 - - Unknown - - - - - DNA SEQ - - LVNC1 - - - - - - - - - - - 1 LOVD
-/. - c.731A>G r.(?) p.(His244Arg) Unknown - benign g.116269619T>C g.115726998T>C CASQ2(NM_001232.3):c.731A>G (p.H244R, p.(His244Arg)), CASQ2(NM_001232.4):c.731A>G (p.H244R) - CASQ2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.731A>G r.(?) p.(His244Arg) Unknown - likely benign g.116269619T>C g.115726998T>C CASQ2(NM_001232.3):c.731A>G (p.H244R, p.(His244Arg)), CASQ2(NM_001232.4):c.731A>G (p.H244R) - CASQ2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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