Full data view for gene KCNQ5

Information The variants shown are described using the NM_019842.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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.51G>A r.(?) p.(Trp17Ter) Unknown - likely pathogenic g.73331968G>A - - - KCNQ5_000049 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>C r.(?) p.(Gly21Ala) Unknown - VUS g.73331979G>C - KCNQ5(NM_019842.4):c.62G>C (p.(Gly21Ala)) - KCNQ5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76G>A r.(?) p.(Ala26Thr) Unknown - likely benign g.73331993G>A - KCNQ5(NM_019842.3):c.76G>A (p.(Ala26Thr)) - KCNQ5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77_89del r.(?) p.(Ala26Glyfs*7) Unknown - VUS g.73331994_73332006del - KCNQ5(NM_001160133.2):c.77_89delCGGCGGGCGGGGG (p.A26Gfs*7) - KCNQ5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83G>A r.(?) p.(Gly28Asp) Unknown - VUS g.73332000G>A g.72622272G>A KCNQ5(NM_019842.3):c.83G>A (p.(Gly28Asp)) - KCNQ5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104G>A r.(?) p.(Gly35Asp) Unknown - VUS g.73332021G>A - KCNQ5(NM_019842.3):c.104G>A (p.(Gly35Asp)) - KCNQ5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.227G>T r.(?) p.(Arg76Met) Unknown - likely benign g.73332144G>T - KCNQ5(NM_019842.3):c.227G>T (p.(Arg76Met)) - KCNQ5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238C>T r.(?) p.(Arg80Trp) Unknown - VUS g.73332155C>T - KCNQ5(NM_019842.4):c.238C>T (p.(Arg80Trp)) - KCNQ5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366C>T r.(?) p.(Pro122=) Unknown - likely benign g.73332283C>T - KCNQ5(NM_001160133.1):c.366C>T (p.P122=) - KCNQ5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.399-4566_*2910112del - - Maternal (confirmed) - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. - c.472A>G r.(?) p.(Ser158Gly) Unknown - likely benign g.73713704A>G - KCNQ5(NM_019842.4):c.472A>G (p.(Ser158Gly)) - KCNQ5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532C>T r.(?) p.(Arg178*) Unknown - pathogenic (dominant) g.73751701C>T g.73041978C>T - - KCNQ5_000029 - - - - De novo - - - - - DNA SEQ-NG - - EE LR17-518 - - F ? - - - - - - 1 Ghayda Mirzaa
+/. - c.532C>T r.(?) p.(Arg178*) Unknown - pathogenic g.73751701C>T - - - KCNQ5_000029 LOF ion channel function. PubMed: Wei 2022 - - De novo - - - - - DNA SEQ-NG - - epilepsy LR17-518 PubMed: Wei 2022 - F ? United States Europe-W;Asia - - - - 1 Aguan Daniel Wei
?/. - c.616+3G>A r.spl? p.? Unknown - VUS g.73751788G>A - - - KCNQ5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616+13159G>T r.(=) p.(=) Both (homozygous) - VUS g.73764944G>T g.73055221G>T - - KCNQ5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.616+13159G>T r.(=) p.(=) Both (homozygous) - VUS g.73764944G>T g.73055221G>T - - KCNQ5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.616+14028C>G r.(=) p.(=) Both (homozygous) - VUS g.73765813C>G g.73056090C>G - - KCNQ5_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.616+14028C>G r.(=) p.(=) Both (homozygous) - VUS g.73765813C>G g.73056090C>G - - KCNQ5_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.616+14251A>G r.(=) p.(=) Both (homozygous) - VUS g.73766036A>G g.73056313A>G - - KCNQ5_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.616+14251A>G r.(=) p.(=) Both (homozygous) - VUS g.73766036A>G g.73056313A>G - - KCNQ5_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.634G>A r.(?) p.(Ala212Thr) Unknown - VUS g.73787062G>A g.73077339G>A KCNQ5(NM_001160130.1):c.634G>A (p.(Ala212Thr)) - KCNQ5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867G>T r.(?) p.(Lys289Asn) Unknown - VUS g.73787559G>T g.73077836G>T - - KCNQ5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.867G>T r.(?) p.(Lys289Asn) Unknown - pathogenic g.73787559G>T - - - KCNQ5_000009 GOF ion channel phenotype PubMed: Wei 2022 - - De novo - - - - - DNA SEQ-NG - - autism LR16-507 PubMed: Wei 2022 - F - Netherlands Europe-W - - - - 1 Aguan Daniel Wei
?/. - c.909G>T r.(?) p.(Trp303Cys) Unknown - VUS g.73787601G>T g.73077878G>T KCNQ5(NM_001160133.1):c.909G>T (p.W303C) - KCNQ5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972A>G r.(?) p.(Gly324=) Unknown - likely benign g.73815033A>G g.73105310A>G KCNQ5(NM_001160133.1):c.972A>G (p.G324=), KCNQ5(NM_001160133.2):c.972A>G (p.G324=) - KCNQ5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972A>G r.(?) p.(Gly324=) Unknown - likely benign g.73815033A>G - KCNQ5(NM_001160133.1):c.972A>G (p.G324=), KCNQ5(NM_001160133.2):c.972A>G (p.G324=) - KCNQ5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1105C>A r.(?) p.(Pro369Thr) Unknown - pathogenic g.73821106C>A - - - KCNQ5_000037 Severe GOF ion channel function. PubMed: Wei 2022 - - De novo - - - - - DNA SEQ-NG - - EEOC LR17-520 PubMed: Wei 2022 - M - United States Hispanic-W - - - - 1 Aguan Daniel Wei
?/. - c.1135C>T r.(?) p.(Arg379Cys) Unknown - VUS g.73830215C>T - KCNQ5(NM_001160133.1):c.1135C>T (p.R379C) - KCNQ5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169T>C r.(?) p.(Ile390Thr) Unknown - likely benign g.73830249T>C - KCNQ5(NM_001160133.2):c.1169T>C (p.I390T) - KCNQ5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1184C>T r.(?) p.(Pro395Leu) Unknown - VUS g.73830264C>T - KCNQ5(NM_001160133.2):c.1184C>T (p.P395L) - KCNQ5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248-3584C>T r.(=) p.(=) Unknown - likely benign g.73839560C>T - KCNQ5(NM_001160133.1):c.1292C>T (p.(Ser431Leu)) - KCNQ5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1248-3576C>T r.(=) p.(=) Unknown - VUS g.73839568C>T - KCNQ5(NM_001160132.2):c.1273C>T (p.(Gln425*)) - KCNQ5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1270C>T r.(?) p.(Arg424*) Unknown - pathogenic g.73843223C>T - NM_001160133.1:c.1327C>T - KCNQ5_000038 LOF ion channel function PubMed: Wei 2022 - - De novo - - - - - DNA SEQ-NG - - EIG LR17-519 PubMed: Wei 2022 - F - United States African-American - - - - 1 Aguan Daniel Wei
-?/. - c.1271G>A r.(?) p.(Arg424Gln) Unknown - likely benign g.73843167G>A g.73133444G>A - - KCNQ5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1271G>A r.(?) p.(Arg424Gln) Unknown - pathogenic g.73843167G>A - NM_001160133.1:c.1328G>A - KCNQ5_000010 GOF ion channel phenotype PubMed: Wei 2022 - - De novo - - - - - DNA SEQ-NG - - EIG LR16-508 PubMed: Wei 2022 - M - Netherlands Europe-W - - - - 1 Aguan Daniel Wei
?/. - c.1286G>T r.(?) p.(Ser429Ile) Unknown - VUS g.73843182G>T g.73133459G>T KCNQ5(NM_001160133.1):c.1343G>T (p.S448I) - KCNQ5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377C>T r.(?) p.(Thr459=) Unknown - likely benign g.73843273C>T - KCNQ5(NM_001160133.1):c.1434C>T (p.T478=) - KCNQ5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1404C>T r.(?) p.(Asn468=) Unknown - likely benign g.73843300C>T g.73133577C>T KCNQ5(NM_001160133.2):c.1461C>T (p.N487=) - KCNQ5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503T>C r.(?) p.(Asp501=) Unknown - likely benign g.73879503T>C - KCNQ5(NM_001160133.1):c.1560T>C (p.D520=) - KCNQ5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1577+3T>C r.spl? p.? Unknown - likely benign g.73879580T>C - KCNQ5(NM_001160133.1):c.1634+3T>C - KCNQ5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1646T>C r.(?) p.(Val549Ala) Unknown - pathogenic g.73900364T>C g.73190641T>C - - KCNQ5_000013 - - - - De novo - - - - - DNA SEQ, SEQ-NG-I Peripheral blood - epilepsy patient4 - - F - China - - - - - 1 Jinliang Li
+/. - c.1646T>C r.(?) p.(Val549Ala) Unknown - pathogenic g.73900364T>C g.73190641T>C - - KCNQ5_000013 - - - - De novo - - - - - DNA SEQ, SEQ-NG-I Peripheral blood - epilepsy patient5 - - M - China - - - - - 1 Jinliang Li
?/. - c.1670A>G r.(?) p.(His557Arg) Unknown - VUS g.73900388A>G g.73190665A>G - - KCNQ5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1670A>G r.(?) p.(His557Arg) Unknown - pathogenic g.73900388A>G - NM_001160133.1:c.1727A>G - KCNQ5_000011 Severe GOF ion channel function. PubMed: Wei 2022 - - De novo - - - - - DNA SEQ-NG - - EEOC LR16-509 PubMed: Wei 2022 - F - Netherlands Europe-W 16y - - - 1 Aguan Daniel Wei
-?/. - c.1689A>G r.(?) p.(Arg563=) Unknown - likely benign g.73900407A>G - KCNQ5(NM_001160133.1):c.1746A>G (p.R582=), KCNQ5(NM_001160133.2):c.1746A>G (p.R582=) - KCNQ5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1689A>G r.(?) p.(Arg563=) Unknown - likely benign g.73900407A>G - KCNQ5(NM_001160133.1):c.1746A>G (p.R582=), KCNQ5(NM_001160133.2):c.1746A>G (p.R582=) - KCNQ5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1709G>A r.(?) p.(Arg570His) Unknown - VUS g.73900427G>A g.73190704G>A - - KCNQ5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1796A>G r.(?) p.(Asp599Gly) Unknown - likely pathogenic g.73902374A>G g.73192651A>G - - KCNQ5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1813C>T r.(?) p.(Arg605Trp) Unknown - VUS g.73902391C>T - KCNQ5(NM_019842.4):c.1813C>T (p.(Arg605Trp)) - KCNQ5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1824G>A r.(?) p.(Lys608=) Unknown - likely benign g.73902402G>A - KCNQ5(NM_001160133.1):c.1881G>A (p.K627=) - KCNQ5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1900G>A r.(?) p.(Gly634Ser) Unknown - VUS g.73904238G>A - KCNQ5(NM_019842.3):c.1900G>A (p.(Gly634Ser)) - KCNQ5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1969T>A r.(?) p.(Tyr657Asn) Unknown - likely benign g.73904307T>A g.73194584T>A KCNQ5(NM_019842.4):c.1969T>A (p.(Tyr657Asn)) - KCNQ5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1969T>A r.(?) p.(Tyr657Asn) Unknown - VUS g.73904307T>A - KCNQ5(NM_019842.4):c.1969T>A (p.(Tyr657Asn)) - KCNQ5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2067G>A r.(?) p.(Gln689=) Unknown - likely benign g.73904405G>A - KCNQ5(NM_001160133.2):c.2124G>A (p.Q708=) - KCNQ5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2110G>A r.(?) p.(Ala704Thr) Unknown - likely benign g.73904448G>A - KCNQ5(NM_001160133.2):c.2167G>A (p.A723T) - KCNQ5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2368A>G r.(?) p.(Asn790Asp) Unknown - VUS g.73904706A>G - KCNQ5(NM_019842.3):c.2368A>G (p.(Asn790Asp)) - KCNQ5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2405G>A r.(?) p.(Arg802His) Unknown - likely benign g.73904743G>A g.73195020G>A KCNQ5(NM_001160133.1):c.2462G>A (p.R821H), KCNQ5(NM_001160133.2):c.2462G>A (p.R821H) - KCNQ5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2405G>A r.(?) p.(Arg802His) Unknown - likely benign g.73904743G>A - KCNQ5(NM_001160133.1):c.2462G>A (p.R821H), KCNQ5(NM_001160133.2):c.2462G>A (p.R821H) - KCNQ5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2608T>C r.(?) p.(Phe870Leu) Unknown - likely benign g.73904946T>C g.73195223T>C KCNQ5(NM_001160133.2):c.2665T>C (p.F889L) - KCNQ5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2617G>A r.(?) p.(Asp873Asn) Unknown - VUS g.73904955G>A g.73195232G>A KCNQ5(NM_001160133.1):c.2674G>A (p.(Asp892Asn)) - KCNQ5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2725C>T r.(?) p.(Arg909*) Unknown - likely pathogenic g.73905063C>T g.73195340C>T - - KCNQ5_000025 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.2777T>C r.(?) p.(Leu926Ser) Unknown - VUS g.73905115T>C - KCNQ5(NM_019842.4):c.2777T>C (p.(Leu926Ser)) - KCNQ5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.*2608G>A r.(?) p.(=) Unknown ACMG VUS g.73907745G>A g.73198022G>A - - KCNQ5_000056 - - - - De novo - 1/12 trios - - - DNA SEQ blood WGS ADHD 200C - - M - Hong Kong Chinese - - - - 1 Larry Baum
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