Full data view for gene KCNH5

Information The variants shown are described using the NM_139318.4 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.268T>C r.(?) p.(Ser90Pro) Unknown - VUS g.63473120A>G - KCNH5(NM_139318.5):c.268T>C (p.(Ser90Pro)) - KCNH5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364G>A r.(?) p.(Val122Ile) Unknown - VUS g.63468118C>T - KCNH5(NM_139318.4):c.364G>A (p.(Val122Ile)) - KCNH5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542T>C r.(?) p.(Leu181Pro) Unknown - VUS g.63453797A>G g.62987079A>G - - KCNH5_000014 does not seggregate PubMed: Happ 2023 - - De novo no - - - - DNA SEQ, SEQ-NG - WES ID Pat18 PubMed: Happ 2023 2-generation family, 2 affected brothers, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.553C>A r.(?) p.(Leu185Ile) Unknown - likely benign g.63447979G>T - KCNH5(NM_139318.4):c.553C>A (p.(Leu185Ile)) - KCNH5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912C>G r.(?) p.(Asp304Glu) Unknown - likely benign g.63447620G>C - KCNH5(NM_139318.5):c.912C>G (p.(Asp304Glu)) - KCNH5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.943-9dup r.(=) p.(=) Unknown - likely benign g.63417301dup - KCNH5(NM_139318.5):c.943-9dup - KCNH5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.962G>A r.(?) p.(Ser321Asn) Unknown - likely pathogenic (dominant) g.63417258C>T g.62950540C>T - - KCNH5_000007 - PubMed: Hu 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat3 PubMed: Hu 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.970A>G r.(?) p.(Lys324Glu) Unknown - likely pathogenic (dominant) g.63417250T>C g.62950532T>C - - KCNH5_000013 ACMG PS2_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat1 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.980G>A r.(?) p.(Arg327His) Unknown ACMG pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Minardi 2020, PubMed: Happ 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - EE patient;Pat10 PubMed: Minardi 2020, PubMed: Happ 2023 1 affected, parents not available M - Italy - - - - - 1 Francesca Bisulli
+/. - c.980G>A r.(?) p.(Arg327His) Unknown ACMG pathogenic (dominant) g.63417240C>T - G980A - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Veeramah 2013, PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES EE PatF;Pat2 PubMed: Veeramah 2013, PubMed: Happ 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.980G>A r.(?) p.(Arg327His) Unknown - VUS (!) g.63417240C>T g.62950522C>T - - KCNH5_000004 gene predicted as candidate involved in neurodevelopmental dealy Wiel 2023, Journal: Wiel 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Wiel 2023, Journal: Wiel 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 - PubMed: Hu 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat1 PubMed: Hu 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA MIP, SEQ, SEQ-NG - - ID Pat3 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID Pat4 PubMed: Happ 2023 1 affected, parents not available F - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel ID Pat5 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat6 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat7 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat8 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.980G>A r.(?) p.(Arg327His) Unknown - pathogenic (dominant) g.63417240C>T g.62950522C>T - - KCNH5_000004 ACMG PS2_Very strong, PS3_Moderate, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat9 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.998G>A r.(?) p.(Arg333His) Unknown - likely pathogenic (dominant) g.63417222C>T g.62950504C>T - - KCNH5_000012 ACMG PS2, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat11 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.998G>A r.(?) p.(Arg333His) Unknown - likely pathogenic (dominant) g.63417222C>T g.62950504C>T - - KCNH5_000012 ACMG PS2, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel ID Pat12 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.998G>A r.(?) p.(Arg333His) Unknown - likely pathogenic (dominant) g.63417222C>T g.62950504C>T - - KCNH5_000012 ACMG PS2, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS ID Pat13 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.998G>A r.(?) p.(Arg333His) Maternal (confirmed) - likely pathogenic (dominant) g.63417222C>T g.62950504C>T - - KCNH5_000012 ACMG PS2, PM2, PP2, PP3 PubMed: Happ 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Pat14 PubMed: Happ 2023 2-generation family, affected mother/daughter, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1090G>A r.(?) p.(Ala364Thr) Unknown - VUS g.63417130C>T - - - KCNH5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1098A>G r.(?) p.(Ile366Met) Parent #1 - benign g.63417122T>C g.62950404T>C - - KCNH5_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146883958 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1098A>G r.(?) p.(Ile366Met) Maternal (confirmed) - VUS g.63417122T>C g.62950404T>C - - KCNH5_000005 - PubMed: Happ 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID Pat18 PubMed: Happ 2023 2-generation family, 2 affected brothers, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1339A>G r.(?) p.(Met447Val) Unknown - likely benign g.63416881T>C - KCNH5(NM_139318.5):c.1339A>G (p.(Met447Val)) - KCNH5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1346C>T r.(?) p.(Ser449Leu) Unknown - VUS g.63416874G>A - KCNH5(NM_139318.5):c.1346C>T (p.(Ser449Leu)) - KCNH5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1388T>C r.(?) p.(Ile463Thr) Unknown ACMG likely pathogenic (dominant) g.63316552A>G g.62849834A>G - - KCNH5_000008 ACMG PS2, PM2, PP2, PP3 PubMed: Imafidon 2021, PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat532;Pat15 PubMed: Imafidon 2021, PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - 00y11m - - - 1 Johan den Dunnen
+?/. - c.1402A>C r.(?) p.(Thr468Pro) Unknown - likely pathogenic (dominant) g.63316538T>G g.62849820T>G - - KCNH5_000011 ACMG PS2, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat16 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - 9y - - - 1 Johan den Dunnen
+?/. - c.1412T>C r.(?) p.(Phe471Ser) Unknown - likely pathogenic (dominant) g.63316528A>G g.62849810A>G - - KCNH5_000010 ACMG PS2, PM2, PP2, PP3 PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS ID Pat17 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1438C>T r.(?) p.(Arg480*) Unknown - VUS g.63316502G>A - KCNH5(NM_139318.4):c.1438C>T (p.(Arg480*)) - KCNH5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1582T>A r.(?) p.(Cys528Ser) Unknown - VUS g.63269287A>T - KCNH5(NM_139318.5):c.1582T>A (p.(Cys528Ser)) - KCNH5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1625G>A r.(?) p.(Arg542Gln) Unknown - likely benign g.63269244C>T - KCNH5(NM_139318.4):c.1625G>A (p.(Arg542Gln)) - KCNH5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1817T>C r.(?) p.(Ile606Thr) Unknown - VUS g.63269052A>G g.62802334A>G - - KCNH5_000009 carries a maternally inherited 16p12.2 microdeletion, associated with various neurodevelopmental disorders PubMed: Happ 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat19 PubMed: Happ 2023 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.2020-4A>G r.spl p.? Unknown ACMG likely pathogenic (dominant) g.63175177T>C g.62708459T>C - - KCNH5_000006 - PubMed: Hu 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat2 PubMed: Hu 2022 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
?/. - c.2182G>A r.(?) p.(Asp728Asn) Unknown - VUS g.63175011C>T - KCNH5(NM_139318.5):c.2182G>A (p.(Asp728Asn)) - KCNH5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2189A>T r.(?) p.Glu730Val Unknown ACMG VUS g.63175004T>A g.62708286T>A - - KCNH5_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.2365G>T r.(?) p.(Gly789Cys) Unknown - likely benign g.63174828C>A - KCNH5(NM_139318.5):c.2365G>T (p.(Gly789Cys)) - KCNH5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2710C>T r.(?) p.(Gln904Ter) Unknown - VUS g.63174483G>A g.62707765G>A KCNH5(NM_139318.3):c.2710C>T (p.(Gln904Ter)) - KCNH5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2864C>T r.(?) p.(Ser955Phe) Unknown - likely benign g.63174329G>A - KCNH5(NM_139318.4):c.2864C>T (p.(Ser955Phe)) - KCNH5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2884C>T r.(?) p.(Pro962Ser) Unknown - likely benign g.63174309G>A - KCNH5(NM_139318.5):c.2884C>T (p.(Pro962Ser)) - KCNH5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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