Full data view for gene HCN1

Information The variants shown are described using the NM_021072.3 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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.124C>T r.(?) p.(Pro42Ser) Unknown - likely benign g.45696072G>A g.45695970G>A HCN1(NM_021072.3):c.124C>T (p.P42S), HCN1(NM_021072.4):c.124C>T (p.(Pro42Ser), p.P42S) - HCN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124C>T r.(?) p.(Pro42Ser) Unknown - likely benign g.45696072G>A g.45695970G>A HCN1(NM_021072.3):c.124C>T (p.P42S), HCN1(NM_021072.4):c.124C>T (p.(Pro42Ser), p.P42S) - HCN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124C>T r.(?) p.(Pro42Ser) Unknown - likely benign g.45696072G>A g.45695970G>A HCN1(NM_021072.3):c.124C>T (p.P42S), HCN1(NM_021072.4):c.124C>T (p.(Pro42Ser), p.P42S) - HCN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124C>T r.(?) p.(Pro42Ser) Unknown - likely benign g.45696072G>A g.45695970G>A HCN1(NM_021072.3):c.124C>T (p.P42S), HCN1(NM_021072.4):c.124C>T (p.(Pro42Ser), p.P42S) - HCN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140G>T r.(?) p.(Gly47Val) Unknown - VUS g.45696056C>A g.45695954C>A HCN1(NM_021072.3):c.140G>T (p.G47V, p.(Gly47Val)), HCN1(NM_021072.4):c.140G>T (p.G47V) - HCN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140G>T r.(?) p.(Gly47Val) Unknown - likely benign g.45696056C>A g.45695954C>A HCN1(NM_021072.3):c.140G>T (p.G47V, p.(Gly47Val)), HCN1(NM_021072.4):c.140G>T (p.G47V) - HCN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140G>T r.(?) p.(Gly47Val) Unknown - likely benign g.45696056C>A g.45695954C>A HCN1(NM_021072.3):c.140G>T (p.G47V, p.(Gly47Val)), HCN1(NM_021072.4):c.140G>T (p.G47V) - HCN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.140G>T r.(?) p.(Gly47Val) Unknown - benign g.45696056C>A g.45695954C>A HCN1(NM_021072.3):c.140G>T (p.G47V, p.(Gly47Val)), HCN1(NM_021072.4):c.140G>T (p.G47V) - HCN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>C r.(?) p.(Gly54Arg) Unknown - VUS g.45696036C>G - HCN1(NM_021072.3):c.160G>C (p.(Gly54Arg)) - HCN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179A>G r.(?) p.(Lys60Arg) Unknown - VUS g.45696017T>C - HCN1(NM_021072.4):c.179A>G (p.K60R) - HCN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201_203del r.(?) p.(Gly74del) Unknown - VUS g.45695995_45695997del - HCN1(NM_021072.3):c.201_203delTGG (p.(Gly68del)) - HCN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201_209dup r.(?) p.(Gly72_Gly74dup) Unknown - benign g.45696002_45696010dup g.45695900_45695908dup HCN1(NM_021072.4):c.201_209dupTGGCGGCGG (p.G72_G74dup) - HCN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201_209dup r.(?) p.(Gly72_Gly74dup) Unknown - likely benign g.45696002_45696010dup - HCN1(NM_021072.4):c.201_209dupTGGCGGCGG (p.G72_G74dup) - HCN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206G>A r.(?) p.(Gly69Asp) Unknown - likely benign g.45695990C>T - HCN1(NM_021072.3):c.206G>A (p.(Gly69Asp)) - HCN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215_223del r.(?) p.(Gly72_Gly74del) Unknown - likely benign g.45695986_45695994del g.45695884_45695892del HCN1(NM_021072.3):c.215_223delGCGGCGGCG (p.G72_G74del), HCN1(NM_021072.4):c.215_223delGCGGCGGCG (p.G72_G74del) - HCN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215_223del r.(?) p.(Gly72_Gly74del) Unknown - likely benign g.45695986_45695994del g.45695884_45695892del HCN1(NM_021072.3):c.215_223delGCGGCGGCG (p.G72_G74del), HCN1(NM_021072.4):c.215_223delGCGGCGGCG (p.G72_G74del) - HCN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215_223del r.(?) p.(Gly72_Gly74del) Unknown - likely benign g.45695986_45695994del g.45695884_45695892del HCN1(NM_021072.3):c.215_223delGCGGCGGCG (p.G72_G74del), HCN1(NM_021072.4):c.215_223delGCGGCGGCG (p.G72_G74del) - HCN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215_223dup r.(?) p.(Gly72_Gly74dup) Unknown - VUS g.45695986_45695994dup - HCN1(NM_021072.4):c.215_223dupGCGGCGGCG (p.G72_G74dup) - HCN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215_223dup r.(?) p.(Gly72_Gly74dup) Unknown - likely benign g.45695986_45695994dup - HCN1(NM_021072.4):c.215_223dupGCGGCGGCG (p.G72_G74dup) - HCN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218_223del r.(?) p.(Gly73_Gly74del) Unknown - likely benign g.45695989_45695994del g.45695887_45695892del HCN1(NM_021072.3):c.218_223del (p.(Gly73_Gly74del)), HCN1(NM_021072.3):c.218_223delGCGGCG (p.G73_G74del), HCN1(NM_021072.4):c.218_223delGCGGCG (p....) - HCN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218_223del r.(?) p.(Gly73_Gly74del) Unknown - likely benign g.45695989_45695994del g.45695887_45695892del HCN1(NM_021072.3):c.218_223del (p.(Gly73_Gly74del)), HCN1(NM_021072.3):c.218_223delGCGGCG (p.G73_G74del), HCN1(NM_021072.4):c.218_223delGCGGCG (p....) - HCN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218_223del r.(?) p.(Gly73_Gly74del) Unknown - benign g.45695989_45695994del g.45695887_45695892del HCN1(NM_021072.3):c.218_223del (p.(Gly73_Gly74del)), HCN1(NM_021072.3):c.218_223delGCGGCG (p.G73_G74del), HCN1(NM_021072.4):c.218_223delGCGGCG (p....) - HCN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>A r.(?) p.(Gly80=) Unknown - likely benign g.45695956G>T g.45695854G>T HCN1(NM_021072.3):c.240C>A (p.G80=), HCN1(NM_021072.4):c.240C>A (p.G80=) - HCN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>A r.(?) p.(Gly80=) Unknown - likely benign g.45695956G>T - HCN1(NM_021072.3):c.240C>A (p.G80=), HCN1(NM_021072.4):c.240C>A (p.G80=) - HCN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247G>A r.(?) p.(Asp83Asn) Unknown - VUS g.45695949C>T g.45695847C>T - - HCN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274G>C r.(?) p.(Gly92Arg) Unknown - VUS g.45695922C>G - HCN1(NM_021072.3):c.274G>C (p.(Gly92Arg)) - HCN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274_294dup r.(?) p.(Gly92_Phe98dup) Unknown - VUS g.45695903_45695923dup g.45695801_45695821dup HCN1(NM_021072.3):c.274_294dupGGCTTCATGCAGAGGCAGTTC (p.G92_F98dup) - HCN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>G r.(?) p.(Met94Val) Unknown - likely benign g.45695916T>C g.45695814T>C HCN1(NM_021072.4):c.280A>G (p.(Met94Val), p.M94V) - HCN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>G r.(?) p.(Met94Val) Unknown - likely benign g.45695916T>C - HCN1(NM_021072.4):c.280A>G (p.(Met94Val), p.M94V) - HCN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.414del r.(?) p.(Tyr138Ter) Unknown - pathogenic (dominant) g.45695782del g.45695680del - - HCN1_000055 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3646.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.425+81C>T r.(=) p.(=) Unknown - likely benign g.45695690G>A g.45695588G>A HCN1(NM_021072.4):c.425+81C>T - HCN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.514A>C r.(?) p.(Thr172Pro) Unknown - likely pathogenic g.45645622T>G g.45645520T>G HCN1(NM_021072.4):c.514A>C (p.T172P) - HCN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517A>C r.(?) p.(Thr173Pro) Unknown - VUS g.45645619T>G g.45645517T>G - - HCN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.683C>T r.(?) p.(Ser228Leu) Unknown - VUS g.45645453G>A - - - HCN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.728T>G r.(?) p.(Met243Arg) Unknown - likely pathogenic g.45645408A>C g.45645306A>C HCN1(NM_021072.4):c.728T>G (p.M243R) - HCN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.45645373G>A - HCN1(NM_021072.4):c.763C>T (p.R255C) - HCN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849+167A>G r.(=) p.(=) Unknown - benign g.45645120T>C g.45645018T>C HCN1(NM_021072.4):c.849+167A>G - HCN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850-40A>C r.(=) p.(=) Unknown - likely benign g.45462149T>G g.45462047T>G HCN1(NM_021072.4):c.850-40A>C - HCN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850-40A>G r.(=) p.(=) Unknown - likely benign g.45462149T>C g.45462047T>C HCN1(NM_021072.4):c.850-40A>G - HCN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908G>T r.(?) p.(Gly303Val) Unknown ACMG VUS (!) g.45462051C>A - - - HCN1_000048 ACMG: class 3 (PM1, PM2_SUP, PP2, PP3) - - - Germline ? - - - - DNA SEQ-NG-I - - GEFSP 176346 - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.1012-14A>G r.(=) p.(=) Unknown - likely benign g.45396826T>C g.45396724T>C HCN1(NM_021072.4):c.1012-14A>G - HCN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120A>G r.(?) p.(Ile374Val) Unknown - VUS g.45396704T>C g.45396602T>C - - HCN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1141G>A r.(?) p.(Val381Ile) Unknown - VUS g.45396683C>T g.45396581C>T - - HCN1_000051 - - - rs750838439 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3202 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.1147G>A r.(?) p.(Ala383Thr) Unknown - VUS g.45396677C>T g.45396575C>T HCN1(NM_021072.4):c.1147G>A (p.A383T) - HCN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1171G>A r.(?) p.(Gly391Ser) Unknown - likely pathogenic g.45396653C>T - HCN1(NM_021072.3):c.1171G>A (p.G391S) - HCN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1171G>A r.(?) p.(Gly391Ser) Unknown ACMG pathogenic (dominant) g.45396653C>T - - - HCN1_000047 ACMG: PS4, PS2_MOD, PM5, PM2_SUP, PP2, PP3 PMID: 33822003, 30351409, 34310985, 31572294, 30986657 VCV000635189.4 - Germline ? - - - - DNA SEQ-NG-I - - EIEE24 195636 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.1230+19C>T r.(=) p.(=) Unknown - likely benign g.45396575G>A g.45396473G>A HCN1(NM_021072.4):c.1230+19C>T - HCN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1230+95A>T r.(=) p.(=) Unknown - likely benign g.45396499T>A g.45396397T>A HCN1(NM_021072.4):c.1230+95A>T - HCN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1230+104_1230+105del r.(=) p.(=) Unknown - benign g.45396499_45396500del g.45396397_45396398del HCN1(NM_021072.4):c.1230+104_1230+105delAA - HCN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1230+105del r.(=) p.(=) Unknown - likely benign g.45396500del g.45396398del HCN1(NM_021072.4):c.1230+105delA - HCN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231-7C>T r.(=) p.(=) Unknown - likely benign g.45353355G>A g.45353253G>A HCN1(NM_021072.4):c.1231-7C>T - HCN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1348C>A r.(?) p.(Leu450Ile) Unknown - VUS g.45353231G>T g.45353129G>T - - HCN1_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_50:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.1519G>A r.(?) p.(Ala507Thr) Unknown - VUS g.45303800C>T - HCN1(NM_021072.3):c.1519G>A (p.(Ala507Thr)) - HCN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1520C>A r.(?) p.(Ala507Asp) Unknown - VUS g.45303799G>T - HCN1(NM_021072.4):c.1520C>A (p.(Ala507Asp)) - HCN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1558G>T r.(?) p.(Ala520Ser) Unknown - VUS g.45303761C>A - - - HCN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580G>A r.(?) p.(Ser527Asn) Unknown - VUS g.45303739C>T - HCN1(NM_021072.4):c.1580G>A (p.S527N) - HCN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1618+29A>G r.(=) p.(=) Unknown - likely benign g.45303672T>C g.45303570T>C HCN1(NM_021072.4):c.1618+29A>G - HCN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1619-3T>C r.spl? p.? Unknown - likely benign g.45267358A>G g.45267256A>G HCN1(NM_021072.4):c.1619-3T>C - HCN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1709A>G r.(?) p.(Asn570Ser) Unknown - VUS g.45267265T>C - HCN1(NM_021072.4):c.1709A>G (p.(Asn570Ser)) - HCN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1783+7dup r.(=) p.(=) Unknown - likely benign g.45267184dup g.45267082dup HCN1(NM_021072.3):c.1783+7dup (p.(=)) - HCN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1797A>G r.(?) p.(Ser599=) Unknown - likely benign g.45262899T>C g.45262797T>C HCN1(NM_021072.3):c.1797A>G (p.S599=) - HCN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2009C>T r.(?) p.(Ala670Val) Unknown - VUS g.45262687G>A g.45262585G>A HCN1(NM_021072.3):c.2009C>T (p.A670V, p.(Ala670Val)), HCN1(NM_021072.4):c.2009C>T (p.A670V) - HCN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2009C>T r.(?) p.(Ala670Val) Unknown - VUS g.45262687G>A - HCN1(NM_021072.3):c.2009C>T (p.A670V, p.(Ala670Val)), HCN1(NM_021072.4):c.2009C>T (p.A670V) - HCN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2009C>T r.(?) p.(Ala670Val) Unknown - likely benign g.45262687G>A - HCN1(NM_021072.3):c.2009C>T (p.A670V, p.(Ala670Val)), HCN1(NM_021072.4):c.2009C>T (p.A670V) - HCN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2038T>A r.(?) p.(Ser680Thr) Unknown - likely benign g.45262658A>T g.45262556A>T HCN1(NM_021072.3):c.2038T>A (p.S680T), HCN1(NM_021072.4):c.2038T>A (p.S680T) - HCN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2038T>A r.(?) p.(Ser680Thr) Unknown - VUS g.45262658A>T - HCN1(NM_021072.3):c.2038T>A (p.S680T), HCN1(NM_021072.4):c.2038T>A (p.S680T) - HCN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2065dup r.(?) p.(Gln689ProfsTer78) Unknown - VUS g.45262636dup g.45262534dup - - HCN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2080C>A r.(?) p.(Leu694Met) Unknown - VUS g.45262616G>T g.45262514G>T - - HCN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2151C>G r.(?) p.(Phe717Leu) Unknown - VUS g.45262545G>C - HCN1(NM_021072.3):c.2151C>G (p.(Phe717Leu)) - HCN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2165C>T r.(?) p.(Pro722Leu) Unknown - likely benign g.45262531G>A - HCN1(NM_021072.3):c.2165C>T (p.(Pro722Leu)) - HCN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2167A>G r.(?) p.(Thr723Ala) Unknown - VUS g.45262529T>C - HCN1(NM_021072.3):c.2167A>G (p.(Thr723Ala)) - HCN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.2317G>C r.(?) p.(Ala773Pro) Unknown - VUS g.45262379C>G g.45262277C>G - - HCN1_000050 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3270 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.2408G>C r.(?) p.(Arg803Thr) Unknown - VUS g.45262288C>G g.45262186C>G - - HCN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.2420C>G r.(?) p.(Thr807Ser) Unknown - VUS g.45262276G>C g.45262174G>C - - HCN1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - SUD - - - F - Denmark - 50y - - - 1 Sofie Lindgren Christiansen
-?/. - c.2491G>A r.(?) p.(Gly831Ser) Unknown - likely benign g.45262205C>T g.45262103C>T HCN1(NM_021072.4):c.2491G>A (p.G831S) - HCN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.2564G>T r.(?) p.(Gly855Val) Unknown - VUS g.45262132C>A g.45262030C>A - - HCN1_000049 - PubMed: Ganapathy 2019 - rs755932633 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5488 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
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