Full data view for gene KCTD7

An NCL gene variant database
Information The variants shown are described using the NM_153033.4 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.145-2A>G r.spl p.? Parent #1 ACMG likely pathogenic (recessive) g.66098260A>G g.66633273A>G - - KCTD7_000019 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat55 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.145T>C r.(?) p.(Phe49Leu) Unknown - likely benign g.66098262T>C g.66633275T>C KCTD7(NM_153033.4):c.145T>C (p.F49L) - KCTD7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.172G>A r.(?) p.(Gly58Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.66098289G>A g.66633302G>A - - KCTD7_000027 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8700126 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
./. - c.190A>G r.(?) p.(Thr64Ala) Paternal (confirmed) - pathogenic g.66098307A>G g.66633320A>G - - KCTD7_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.190A>G r.(?) p.(Thr64Ala) Parent #2 ACMG likely pathogenic (recessive) g.66098307A>G g.66633320A>G - - KCTD7_000001 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat55 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.190A>G r.(?) (p.Thr64Ala) Parent #1 - likely pathogenic g.66098307A>G g.66633320A>G c.190A>G, (p.Thr64Ala) - KCTD7_000001 compound heterozygous PubMed: Kozina 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole exome sequencing CLN 4 PubMed: Kozina 2020 - M no Russia - - - - - 1 LOVD
+?/. - c.205C>G r.(?) p.(Leu69Val) Both (homozygous) ACMG pathogenic g.66098322C>G - - - KCTD7_000024 - - - - Germline - - - - - DNA SEQ-NG - - EPM3;CLN14, FMFD - - - - - - - - - - - 1 Anju Shukla
-/. - c.267G>A r.(?) p.(Thr89=) Unknown - benign g.66098384G>A g.66633397G>A KCTD7(NM_153033.4):c.267G>A (p.T89=) - KCTD7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273C>T r.(?) p.(Ser91=) Unknown - likely benign g.66098390C>T g.66633403C>T KCTD7(NM_153033.4):c.273C>T (p.S91=) - KCTD7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295C>T r.(?) p.(Arg99Ter) Unknown - pathogenic g.66098412C>T g.66633425C>T KCTD7(NM_153033.4):c.295C>T (p.(Arg99*)), KCTD7(NM_153033.5):c.295C>T (p.R99*) - KCTD7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295C>T r.(?) p.(Arg99Ter) Unknown - pathogenic g.66098412C>T - KCTD7(NM_153033.4):c.295C>T (p.(Arg99*)), KCTD7(NM_153033.5):c.295C>T (p.R99*) - KCTD7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303C>T r.(?) p.(Gly101=) Unknown - likely benign g.66098420C>T - KCTD7(NM_153033.4):c.303C>T (p.G101=) - KCTD7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.315-24C>T r.(=) p.(=) Unknown - benign g.66103216C>T g.66638229C>T KCTD7(NM_153033.4):c.315-24C>T - KCTD7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334C>T r.(?) p.(Arg112Cys) Unknown - VUS g.66103259C>T - KCTD7(NM_153033.4):c.334C>T (p.R112C) - KCTD7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335G>A r.(?) p.(Arg112His) Unknown - VUS g.66103260G>A g.66638273G>A - - KCTD7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.337T>C r.(?) (p.Ser113Pro) Parent #2 - likely pathogenic g.66103262T>C g.66638275T>C c.337T>C, (p.Ser113Pro) - KCTD7_000028 compound heterozygous PubMed: Kozina 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole exome sequencing CLN 4 PubMed: Kozina 2020 - M no Russia - - - - - 1 LOVD
-?/. - c.384G>A r.(?) p.(Glu128=) Unknown - likely benign g.66103309G>A g.66638322G>A KCTD7(NM_153033.4):c.384G>A (p.E128=) - KCTD7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384G>A r.(?) p.(Glu128=) Unknown - likely benign g.66103309G>A - KCTD7(NM_153033.4):c.384G>A (p.E128=) - KCTD7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.388C>T r.? p.(Gln130*) Both (homozygous) ACMG pathogenic (recessive) g.66103313C>T g.66638326C>T - - KCTD7_000029 ACMG: PVS1, PM2_SUP, PM3_SUP - VCV001405546.4 - Germline - - - - - DNA SEQ-NG-I - - EPM3;CLN14 284164 - - F yes Saudi Arabia - - - - - 1 Andreas Laner
-?/. - c.400A>G r.(?) p.(Ile134Val) Unknown - likely benign g.66103325A>G g.66638338A>G KCTD7(NM_153033.4):c.400A>G (p.I134V) - KCTD7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404G>A r.(?) p.(Gly135Glu) Unknown - VUS g.66103329G>A g.66638342G>A KCTD7(NM_001167961.2):c.404G>A (p.(Gly135Glu)) - KCTD7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.456G>A r.[0, 454_493del] p.[0,Val152fs] Parent #1 - pathogenic g.66103381G>A g.66638394G>A V152V - KCTD7_000012 variant other allele not reported PubMed: Fresard 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - DD example 2 PubMed: Fresard 2019 2-generation family, affected sister/brother F;M - Canada Hispanic - - - - 2 Johan den Dunnen
?/. 3 c.458G>C r.(?) p.(Arg153Pro) Both (homozygous) - VUS g.66103383G>C g.66638396G>C - - KCTD7_000025 - - - rs765235486 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2377 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 3 c.493+2_493+6del r.spl? p.? Both (homozygous) ACMG likely pathogenic g.66103420_66103424del - - - KCTD7_000020 - - - - Germline - - - - - DNA SEQ DBS - EPM3;CLN14 ? - - F yes Saudi Arabia - - - - - 1 Corina-Marcela Rus
+?/. - c.551G>A r.(?) p.(Arg184His) Unknown - likely pathogenic g.66103900G>A g.66638913G>A - - KCTD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.631C>T r.(?) p.(Arg211Ter) Maternal (confirmed) - pathogenic g.66103980C>T g.66638993C>T - - KCTD7_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.654C>T r.(?) p.(Asp218=) Unknown - benign g.66104003C>T g.66639016C>T KCTD7(NM_153033.4):c.654C>T (p.D218=) - KCTD7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687T>C r.(?) p.(Asp229=) Unknown - likely benign g.66104036T>C g.66639049T>C KCTD7(NM_153033.4):c.687T>C (p.D229=) - KCTD7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687T>C r.(?) p.(Asp229=) Unknown - likely benign g.66104036T>C - KCTD7(NM_153033.4):c.687T>C (p.D229=) - KCTD7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.696del r.(?) p.(Phe232Leufs*41) Both (homozygous) ACMG pathogenic g.66104045del g.66639058del - - KCTD7_000023 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 13DG1863 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.818A>T r.(?) p.(Asn273Ile) Unknown - pathogenic g.66104167A>T g.66639180A>T KCTD7(NM_153033.4):c.818A>T (p.N273I) - KCTD7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.836G>A r.(?) p.(Arg279His) Unknown - VUS g.66104185G>A - KCTD7(NM_153033.4):c.836G>A (p.R279H) - KCTD7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*708C>T r.(=) p.(=) Parent #1 - likely benign g.66104927C>T g.66639940C>T - - KCTD7_000018 67 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79736939 Germline - 67/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 67 Mohammed Faruq
-?/. - c.*1381del r.(?) p.(=) Unknown - likely benign g.66105600del g.66640613del KCTD7(NM_153033.4):c.*1381delT - KCTD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i_4_ c.(314+1_3151)_(*3997_?)dup r.? p.? Both (homozygous) - VUS g.? - Large dup - EZH2_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5954 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
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