Full data view for gene JPH2

Information The variants shown are described using the NM_020433.4 transcript reference sequence.

380 entries on 4 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-342T>A r.(?) p.(=) Unknown - VUS g.42815687A>T g.44187047A>T - - JPH2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-118G>A r.(?) p.(=) Unknown - VUS g.42815463C>T g.44186823C>T - - JPH2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-66C>T r.(?) p.(=) Unknown - benign g.42815411G>A g.44186771G>A - - JPH2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9T>G r.(?) p.(=) Unknown - VUS g.42815354A>C g.44186714A>C JPH2(NM_020433.5):c.-9T>G - JPH2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4T>A r.(?) p.(=) Unknown - likely benign g.42815349A>T - JPH2(NM_020433.5):c.-4T>A - JPH2_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5G>A r.(?) p.(Ser2Asn) Unknown - likely benign g.42815341C>T g.44186701C>T JPH2(NM_020433.4):c.5G>A (p.S2N) - JPH2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>A r.(?) p.(Gly3Glu) Unknown - VUS g.42815338C>T g.44186698C>T JPH2(NM_020433.5):c.8G>A (p.G3E) - JPH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>A r.(?) p.(Gly3Glu) Unknown - VUS g.42815338C>T g.44186698C>T JPH2(NM_020433.5):c.8G>A (p.G3E) - JPH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>A r.(?) p.(Gly3Glu) Unknown - VUS g.42815338C>T g.44186698C>T JPH2(NM_020433.5):c.8G>A (p.G3E) - JPH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.34G>A r.(?) p.(Gly12Arg) Unknown - VUS g.42815312C>T - JPH2(NM_020433.5):c.34G>A (p.G12R) - JPH2_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38C>T r.(?) p.(Ala13Val) Unknown - VUS g.42815308G>A g.44186668G>A JPH2(NM_020433.5):c.38C>T (p.A13V) - JPH2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50G>T r.(?) p.(Gly17Val) Unknown - VUS g.42815296C>A g.44186656C>A JPH2(NM_020433.5):c.50G>T (p.G17V) - JPH2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58G>C r.(?) p.(Gly20Arg) Unknown - VUS g.42815288C>G g.44186648C>G JPH2(NM_020433.4):c.58G>C (p.G20R) - JPH2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88A>T r.(?) p.(Thr30Ser) Unknown - VUS g.42815258T>A g.44186618T>A - - JPH2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.128A>G r.(?) p.(Asn43Ser) Unknown - likely benign g.42815218T>C g.44186578T>C JPH2(NM_020433.4):c.128A>G (p.N43S), JPH2(NM_020433.5):c.128A>G (p.N43S) - JPH2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128A>G r.(?) p.(Asn43Ser) Unknown - VUS g.42815218T>C g.44186578T>C JPH2(NM_020433.4):c.128A>G (p.N43S), JPH2(NM_020433.5):c.128A>G (p.N43S) - JPH2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>A r.(?) p.(Ala49Thr) Unknown - VUS g.42815201C>T - JPH2(NM_020433.5):c.145G>A (p.A49T) - JPH2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147A>G r.(?) p.(Ala49=) Unknown - benign g.42815199T>C g.44186559T>C JPH2(NM_020433.5):c.147A>G (p.A49=) - JPH2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Tyr52=) Unknown - benign g.42815190G>A g.44186550G>A JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=) - JPH2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Tyr52=) Unknown - benign g.42815190G>A g.44186550G>A JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=) - JPH2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Tyr52=) Unknown - benign g.42815190G>A g.44186550G>A JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=) - JPH2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Tyr52=) Unknown - benign g.42815190G>A g.44186550G>A JPH2(NM_020433.4):c.156C>T (p.Y52=), JPH2(NM_020433.5):c.156C>T (p.Y52=) - JPH2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183G>A r.(?) p.(Glu61=) Unknown - benign g.42815163C>T g.44186523C>T JPH2(NM_020433.5):c.183G>A (p.E61=) - JPH2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212G>A r.(?) p.(Gly71Glu) Unknown - VUS g.42815134C>T g.44186494C>T JPH2(NM_020433.5):c.212G>A (p.G71E) - JPH2_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213G>A r.(?) p.(=) Unknown - benign g.42815133C>T - JPH2(NM_020433.5):c.213G>A (p.G71=) - JPH2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.225G>C r.(?) p.(Glu75Asp) Unknown - VUS g.42815121C>G g.44186481C>G JPH2(NM_020433.4):c.225G>C (p.E75D) - JPH2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.246C>A r.(?) p.(Tyr82Ter) Unknown - VUS g.42815100G>T g.44186460G>T - - JPH2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>A r.(?) p.(Arg97=) Unknown - likely benign g.42815057G>T g.44186417G>T - - JPH2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293A>G r.(?) p.(Gln98Arg) Unknown - VUS g.42815053T>C - JPH2(NM_020433.5):c.293A>G (p.Q98R) - JPH2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297C>T r.(?) p.(Ser99=) Unknown - benign g.42815049G>A g.44186409G>A JPH2(NM_020433.5):c.297C>T (p.S99=) - JPH2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301A>C r.(?) p.(Ser101Arg) Parent #1 - pathogenic (dominant) g.42815045T>G g.44186405T>G S101R - JPH2_000082 - PubMed: Landstrom 2007 - - Germline - - - - - DNA SEQ - - CMH Pat1 PubMed: Landstrom 2007 family history CMH, 3 first-degree and 1 second-degree affected relatives M - United States - - - - - 1 Johan den Dunnen
?/. - c.322G>A r.(?) p.(Gly108Ser) Unknown - VUS g.42815024C>T - JPH2(NM_020433.4):c.322G>A (p.G108S) - JPH2_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327C>A r.(?) p.(Thr109=) Unknown - likely benign g.42815019G>T g.44186379G>T JPH2(NM_020433.4):c.327C>A (p.T109=) - JPH2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338G>T r.(?) p.(Gly113Val) Unknown - VUS g.42815008C>A - JPH2(NM_020433.4):c.338G>T (p.(Gly113Val)) - JPH2_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341T>C r.(?) p.(Leu114Pro) Unknown - VUS g.42815005A>G g.44186365A>G - - JPH2_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Gly117Asp) Unknown - VUS g.42814996C>T g.44186356C>T JPH2(NM_020433.5):c.350G>A (p.G117D) - JPH2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Gly117Asp) Unknown - VUS g.42814996C>T g.44186356C>T JPH2(NM_020433.5):c.350G>A (p.G117D) - JPH2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.363G>A r.(?) p.(Glu121=) Unknown - benign g.42814983C>T - JPH2(NM_020433.5):c.363G>A (p.E121=) - JPH2_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379+1G>A r.spl? p.? Unknown - VUS g.42814966C>T g.44186326C>T JPH2(NM_020433.5):c.379+1G>A - JPH2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.379+12T>G r.(=) p.(=) Unknown - likely benign g.42814955A>C g.44186315A>C JPH2(NM_020433.5):c.379+12T>G - JPH2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379+12T>G r.(=) p.(=) Unknown - benign g.42814955A>C g.44186315A>C JPH2(NM_020433.5):c.379+12T>G - JPH2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379+19C>T r.(=) p.(=) Unknown - benign g.42814948G>A g.44186308G>A JPH2(NM_020433.5):c.379+19C>T - JPH2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.379+20C>T r.(=) p.(=) Unknown - likely benign g.42814947G>A g.44186307G>A JPH2(NM_020433.4):c.379+20C>T - JPH2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379+36A>G r.(=) p.(=) Unknown - benign g.42814931T>C g.44186291T>C JPH2(NM_020433.5):c.379+36A>G - JPH2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379+36A>G r.(=) p.(=) Unknown - benign g.42814931T>C - JPH2(NM_020433.5):c.379+36A>G - JPH2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379+8348C>G r.(=) p.(=) Unknown - benign g.42806619G>C - JPH2(NM_020433.5):c.379+8348C>G - JPH2_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379+8362T>C r.(=) p.(=) Unknown - benign g.42806605A>G g.44177965A>G JPH2(NM_175913.4):c.387T>C (p.C129=) - JPH2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-9C>G r.(=) p.(=) Unknown - benign g.42789056G>C g.44160416G>C JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G - JPH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380-9C>G r.(=) p.(=) Unknown - likely benign g.42789056G>C g.44160416G>C JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G - JPH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380-9C>G r.(=) p.(=) Unknown - likely benign g.42789056G>C g.44160416G>C JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G - JPH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-9C>G r.(=) p.(=) Unknown - benign g.42789056G>C g.44160416G>C JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G - JPH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-9C>G r.(=) p.(=) Unknown - benign g.42789056G>C - JPH2(NM_020433.4):c.380-9C>G, JPH2(NM_020433.5):c.380-9C>G - JPH2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-6C>T r.(=) p.(=) Unknown - benign g.42789053G>A g.44160413G>A JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T - JPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380-6C>T r.(=) p.(=) Unknown - likely benign g.42789053G>A g.44160413G>A JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T - JPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-6C>T r.(=) p.(=) Unknown - benign g.42789053G>A g.44160413G>A JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T - JPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-6C>T r.(=) p.(=) Unknown - benign g.42789053G>A g.44160413G>A JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T - JPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-6C>T r.(=) p.(=) Unknown - benign g.42789053G>A g.44160413G>A JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T - JPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380-6C>T r.(=) p.(=) Unknown - benign g.42789053G>A - JPH2(NM_020433.4):c.380-6C>T, JPH2(NM_020433.5):c.380-6C>T - JPH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.421T>C r.(?) p.(Tyr141His) Unknown - pathogenic (dominant) g.42789006A>G g.44160366A>G Y141H - JPH2_000083 - PubMed: Landstrom 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMH Pat2 PubMed: Landstrom 2007 no CMH family histor or sudden cardiac death M - United States - - - - - 1 Johan den Dunnen
+/. - c.426_427del r.(?) p.(Val143ThrfsTer98) Unknown - pathogenic g.42789001_42789002del g.44160361_44160362del JPH2(NM_020433.5):c.426_427delAG (p.V143Tfs*98) - JPH2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456C>T r.(?) p.(Ala152=) Unknown - benign g.42788971G>A g.44160331G>A JPH2(NM_020433.5):c.456C>T (p.A152=) - JPH2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472C>T r.(?) p.(Pro158Ser) Unknown - VUS g.42788955G>A - JPH2(NM_020433.5):c.472C>T (p.P158S) - JPH2_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483G>A r.(?) p.(Thr161=) Unknown - benign g.42788944C>T g.44160304C>T JPH2(NM_020433.5):c.483G>A (p.T161=) - JPH2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.494C>T r.(?) p.(Ser165Phe) Unknown - pathogenic (dominant) g.42788933G>A g.44160293G>A S165F - JPH2_000084 - PubMed: Landstrom 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMH Pat3 PubMed: Landstrom 2007 no CMH family history or sudden cardiac death F - United States - - - - - 1 Johan den Dunnen
+?/. - c.497T>C r.(?) p.(Leu166Pro) Unknown - likely pathogenic g.42788930A>G g.44160290A>G JPH2(NM_020433.5):c.497T>C (p.L166P) - JPH2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511_516dup r.(?) p.(Ser171_Asn172dup) Unknown - VUS g.42788913_42788918dup - - - JPH2_000241 - - - rs864309612 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517G>T r.(?) p.(Gly173Cys) Unknown - VUS g.42788910C>A - JPH2(NM_020433.5):c.517G>T (p.G173C) - JPH2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517G>T r.(?) p.(Gly173Cys) Unknown - VUS g.42788910C>A - JPH2(NM_020433.5):c.517G>T (p.G173C) - JPH2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522G>A r.(?) p.(Thr174=) Unknown - likely benign g.42788905C>T g.44160265C>T - - JPH2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531G>A r.(?) p.(Pro177=) Unknown - likely benign g.42788896C>T g.44160256C>T JPH2(NM_020433.4):c.531G>A (p.P177=) - JPH2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535T>G r.(?) p.(Ser179Ala) Unknown - VUS g.42788892A>C g.44160252A>C JPH2(NM_020433.5):c.535T>G (p.S179A) - JPH2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544T>C r.(?) p.(Ser182Pro) Unknown - VUS g.42788883A>G g.44160243A>G - - JPH2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.562C>T r.(?) p.(Pro188Ser) Unknown - benign g.42788865G>A g.44160225G>A JPH2(NM_020433.4):c.562C>T (p.P188S), JPH2(NM_020433.5):c.562C>T (p.P188S) - JPH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562C>T r.(?) p.(Pro188Ser) Unknown - likely benign g.42788865G>A g.44160225G>A JPH2(NM_020433.4):c.562C>T (p.P188S), JPH2(NM_020433.5):c.562C>T (p.P188S) - JPH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562C>T r.(?) p.(Pro188Ser) Unknown - likely benign g.42788865G>A - JPH2(NM_020433.4):c.562C>T (p.P188S), JPH2(NM_020433.5):c.562C>T (p.P188S) - JPH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565G>A r.(?) p.(Ala189Thr) Unknown - VUS g.42788862C>T g.44160222C>T JPH2(NM_020433.5):c.565G>A (p.A189T, p.(Ala189Thr)) - JPH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.565G>A r.(?) p.(Ala189Thr) Unknown - likely benign g.42788862C>T - JPH2(NM_020433.5):c.565G>A (p.A189T, p.(Ala189Thr)) - JPH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572C>G r.(?) p.(Pro191Arg) Unknown - likely benign g.42788855G>C g.44160215G>C JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R) - JPH2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572C>G r.(?) p.(Pro191Arg) Unknown - likely benign g.42788855G>C g.44160215G>C JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R) - JPH2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572C>G r.(?) p.(Pro191Arg) Unknown - likely benign g.42788855G>C g.44160215G>C JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R) - JPH2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572C>G r.(?) p.(Pro191Arg) Unknown - likely benign g.42788855G>C g.44160215G>C JPH2(NM_020433.4):c.572C>G (p.P191R), JPH2(NM_020433.5):c.572C>G (p.P191R) - JPH2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575C>T r.(?) p.(Ser192Leu) Unknown - likely benign g.42788852G>A g.44160212G>A - - JPH2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578C>T r.(?) p.(Pro193Leu) Unknown - VUS g.42788849G>A - JPH2(NM_020433.4):c.578C>T (p.P193L) - JPH2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.582C>T r.(?) p.(=) Unknown - benign g.42788845G>A - JPH2(NM_020433.5):c.582C>T (p.A194=) - JPH2_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.598T>C r.(?) p.(Phe200Leu) Unknown - likely benign g.42788829A>G - - - JPH2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598T>G r.(?) p.(Phe200Val) Unknown - VUS g.42788829A>C - JPH2(NM_020433.4):c.598T>G (p.F200V) - JPH2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.606C>G r.(?) p.(Leu202=) Unknown - likely benign g.42788821G>C g.44160181G>C - - JPH2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611T>G r.(?) p.(Leu204Arg) Unknown - VUS g.42788816A>C g.44160176A>C - - JPH2_000006 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 100 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - - - - - 1 Ellika Sahlin
-?/. - c.620A>G r.(?) p.(Asn207Ser) Unknown - likely benign g.42788807T>C g.44160167T>C - - JPH2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.624C>G r.(?) p.(Ala208=) Unknown - benign g.42788803G>C g.44160163G>C JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=) - JPH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>G r.(?) p.(Ala208=) Unknown - likely benign g.42788803G>C g.44160163G>C JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=) - JPH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.624C>G r.(?) p.(Ala208=) Unknown - benign g.42788803G>C g.44160163G>C JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=) - JPH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>G r.(?) p.(Ala208=) Unknown - likely benign g.42788803G>C g.44160163G>C JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=) - JPH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>G r.(?) p.(Ala208=) Unknown - likely benign g.42788803G>C g.44160163G>C JPH2(NM_020433.4):c.624C>G (p.A208=), JPH2(NM_020433.5):c.624C>G (p.A208=) - JPH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Ala208=) Unknown - likely benign g.42788803G>A g.44160163G>A JPH2(NM_020433.4):c.624C>T (p.A208=) - JPH2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631G>C r.(?) p.(Ala211Pro) Unknown - VUS g.42788796C>G g.44160156C>G - - JPH2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637C>G r.(?) p.(Arg213Gly) Unknown - likely benign g.42788790G>C - - - JPH2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.637C>T r.(?) p.(Arg213Trp) Unknown - benign g.42788790G>A g.44160150G>A JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W) - JPH2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637C>T r.(?) p.(Arg213Trp) Unknown - likely benign g.42788790G>A g.44160150G>A JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W) - JPH2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637C>T r.(?) p.(Arg213Trp) Unknown - likely benign g.42788790G>A - JPH2(NM_020433.4):c.637C>T (p.R213W), JPH2(NM_020433.5):c.637C>T (p.R213W) - JPH2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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