Full data view for gene CCDC78

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_001031737.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2045C>G r.(?) p.(=) Unknown - VUS g.778412G>C g.728412G>C HAGHL(NM_032304.2):c.385G>C (p.(Ala129Pro)) - HAGHL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2037T>G r.(?) p.(=) Unknown - VUS g.778404A>C g.728404A>C HAGHL(NM_032304.2):c.377A>C (p.(Asp126Ala)) - HAGHL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1733_-1730del r.(?) p.(=) Unknown - likely benign g.778110_778113del - HAGHL(NM_032304.2):c.171-6_171-3delCCGC (p.?) - CCDC78_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1224C>G r.(?) p.(=) Unknown - likely benign g.777591G>C g.727591G>C HAGHL(NM_032304.2):c.82G>C (p.(Val28Leu)) - HAGHL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.776367T>C g.726367T>C CCDC78(NM_001031737.2):c.1A>G (p.M1?) - CCDC78_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.61-1G>A r.60_61ins[60+1_61-2;a] p.Asn20_Val21ins74 Maternal (confirmed) - pathogenic g.776086C>T g.726086C>T - - CCDC78_000001 linkage analysis, whole exome sequencing; lymphoblast RNA PubMed: Majczenko 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MYOP - PubMed: Majczenko 2012 - F no United States - >8y - - - 128 Johan den Dunnen
+/. 1i c.61-1G>A r.60_61ins[60+1_61-2;a] p.Asn20_Val21ins74 Maternal (confirmed) - pathogenic g.776086C>T g.726086C>T - - CCDC78_000001 linkage analysis, whole exome sequencing; lymphoblast RNA PubMed: Majczenko 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MYOP - PubMed: Majczenko 2012 - F no United States - >5y - - - 129 Johan den Dunnen
+/. 1i c.61-1G>A r.60_61ins[60+1_61-2;a] p.Asn20_Val21ins74 Maternal (confirmed) - pathogenic g.776086C>T g.726086C>T - - CCDC78_000001 linkage analysis, whole exome sequencing; lymphoblast RNA PubMed: Majczenko 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MYOP - PubMed: Majczenko 2012 - F no United States - >28y - - - 130 Johan den Dunnen
+/. 1i c.61-1G>A r.60_61ins[60+1_61-2;a] p.Asn20_Val21ins74 Maternal (confirmed) - pathogenic g.776086C>T g.726086C>T - - CCDC78_000001 linkage analysis, whole exome sequencing; lymphoblast RNA PubMed: Majczenko 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MYOP - PubMed: Majczenko 2012 - M no United States - >25y - - - 131 Johan den Dunnen
+/. 1i c.61-1G>A r.60_61ins[60+1_61-2;a] p.Asn20_Val21ins74 Unknown - pathogenic g.776086C>T g.726086C>T - - CCDC78_000001 linkage analysis, whole exome sequencing; lymphoblast RNA PubMed: Majczenko 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MYOP - PubMed: Majczenko 2012 - F no United States - >48y - - - 132 Johan den Dunnen
?/. - c.180+3G>T r.spl? p.? Unknown - VUS g.775963C>A - CCDC78(NM_001031737.2):c.180+3G>T - CCDC78_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.180+3G>T r.spl? p.? Unknown - VUS g.775963C>A - CCDC78(NM_001031737.2):c.180+3G>T - CCDC78_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209T>A r.(?) p.(Ile70Asn) Unknown - VUS g.775852A>T g.725852A>T CCDC78(NM_001031737.3):c.209T>A (p.I70N) - CCDC78_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217C>T r.(?) p.(His73Tyr) Unknown - likely benign g.775844G>A g.725844G>A CCDC78(NM_001031737.2):c.217C>T (p.(His73Tyr)) - CCDC78_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287G>A r.(?) p.(Arg96Gln) Unknown - likely benign g.775561C>T - CCDC78(NM_001031737.3):c.287G>A (p.R96Q) - CCDC78_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308G>A r.(?) p.(Arg103Gln) Parent #1 - VUS g.775540C>T g.725540C>T - - CCDC78_000013 - PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat667;B2(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
-?/. - c.384G>T r.(?) p.(Glu128Asp) Unknown - likely benign g.775464C>A - CCDC78(NM_001378030.1):c.384G>T (p.(Glu128Asp)) - CCDC78_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Gly164=) Unknown - likely benign g.775237G>A - CCDC78(NM_001031737.3):c.492C>T (p.G164=) - CCDC78_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.492+1G>A r.spl? p.? Unknown - VUS g.775236C>T - CCDC78(NM_001031737.2):c.492+1G>A, CCDC78(NM_001378030.1):c.492+1G>A - CCDC78_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492+1G>A r.spl? p.? Unknown - likely benign g.775236C>T - CCDC78(NM_001031737.2):c.492+1G>A, CCDC78(NM_001378030.1):c.492+1G>A - CCDC78_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.492+28G>C r.(=) p.(=) Unknown - VUS g.775209C>G - CCDC78(NM_001378033.1):c.67G>C (p.(Glu23Gln)) - CCDC78_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502G>A r.(?) p.(Glu168Lys) Unknown - VUS g.775136C>T - CCDC78(NM_001031737.2):c.502G>A (p.(Glu168Lys)) - CCDC78_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628A>T r.(?) p.(Thr210Ser) Unknown - VUS g.774922T>A - CCDC78(NM_001031737.2):c.628A>T (p.(Thr210Ser)) - CCDC78_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.639+5G>A r.spl? p.? Unknown - VUS g.774906C>T g.724906C>T CCDC78(NM_001031737.3):c.639+5G>A - CCDC78_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.712A>C r.(?) p.(Lys238Gln) Unknown - likely benign g.774734T>G g.724734T>G CCDC78(NM_001031737.2):c.712A>C (p.(Lys238Gln)) - CCDC78_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.712A>C r.(?) p.(Lys238Gln) Parent #1 - benign g.774734T>G g.724734T>G - - CCDC78_000027 34 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142136104 Germline - 34/2766 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
-/. - c.712A>C r.(?) p.(Lys238Gln) Both (homozygous) - benign g.774734T>G g.724734T>G - - CCDC78_000027 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142136104 Germline - 3/2766 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.737G>A r.(?) p.(Arg246Gln) Unknown - likely benign g.774709C>T g.724709C>T CCDC78(NM_001031737.3):c.737G>A (p.R246Q) - CCDC78_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.754T>C r.(?) p.(Trp252Arg) Unknown - benign g.774692A>G g.724692A>G CCDC78(NM_001031737.3):c.754T>C (p.W252R) - CCDC78_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.766-11G>A r.(=) p.(=) Unknown - benign g.774520C>T g.724520C>T CCDC78(NM_001031737.3):c.766-11G>A - CCDC78_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811C>T r.(?) p.(Arg271Trp) Unknown - VUS g.774464G>A - CCDC78(NM_001031737.2):c.811C>T (p.R271W) - CCDC78_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.812G>A r.(?) p.(Arg271Gln) Unknown - likely benign g.774463C>T - CCDC78(NM_001031737.2):c.812G>A (p.(Arg271Gln)) - CCDC78_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>T r.(?) p.(Arg282Trp) Unknown - likely benign g.774431G>A g.724431G>A CCDC78(NM_001031737.2):c.844C>T (p.(Arg282Trp)) - CCDC78_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953+10G>A r.(=) p.(=) Unknown - likely benign g.774312C>T - CCDC78(NM_001378030.1):c.953+10G>A - CCDC78_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.966C>A r.(?) p.(Asn322Lys) Unknown - likely benign g.774193G>T g.724193G>T CCDC78(NM_001031737.2):c.966C>A (p.(Asn322Lys)) - CCDC78_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1134-206C>A r.(=) p.(=) Unknown - benign g.773367G>T g.723367G>T CCDC78(NM_001031737.3):c.1134-206C>A - CCDC78_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1134-180C>T r.(=) p.(=) Unknown - benign g.773341G>A g.723341G>A CCDC78(NM_001031737.3):c.1134-180C>T - CCDC78_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1134-153dup r.(=) p.(=) Unknown - benign g.773321dup g.723321dup CCDC78(NM_001031737.3):c.1134-153dupG - CCDC78_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1134-131del r.(=) p.(=) Unknown - benign g.773299del g.723299del CCDC78(NM_001031737.3):c.1134-131delG - CCDC78_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1134-2A>G r.spl? p.? Unknown - VUS g.773163T>C - CCDC78(NM_001031737.2):c.1134-2A>G (p.?), CCDC78(NM_001378030.1):c.1134-2A>G - CCDC78_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1134-2A>G r.spl? p.? Unknown - VUS g.773163T>C - CCDC78(NM_001031737.2):c.1134-2A>G (p.?), CCDC78(NM_001378030.1):c.1134-2A>G - CCDC78_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1184T>C r.(?) p.(Phe395Ser) Unknown - VUS g.773111A>G - CCDC78(NM_001378030.1):c.1184T>C (p.(Phe395Ser)) - CCDC78_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1201-12C>T r.(=) p.(=) Unknown - likely benign g.773030G>A - CCDC78(NM_001378030.1):c.1201-8C>T - CCDC78_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234G>A r.(?) p.(Gly412Arg) Unknown - likely benign g.772985C>T - CCDC78(NM_001378030.1):c.1238G>A (p.(Arg413Gln)) - CCDC78_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1241G>A r.(?) p.(Arg414Gln) Parent #1 - likely benign g.772978C>T g.722978C>T - - CCDC78_000029 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146067716 Germline - 20/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 20 Mohammed Faruq
-?/. - c.1298-8C>A r.(=) p.(=) Unknown - likely benign g.772797G>T - CCDC78(NM_001378030.1):c.1302-8C>A - CCDC78_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1298-3C>T r.spl? p.? Unknown - VUS g.772792G>A - CCDC78(NM_001031737.2):c.1298-3C>T - CCDC78_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1307C>G r.(?) p.(Thr436Arg) Unknown - VUS g.772780G>C - CCDC78(NM_001031737.2):c.1307C>G (p.T436R) - CCDC78_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1329C>T r.(=) p.(=) Unknown - likely benign g.771441G>A g.721441G>A FAM173A(NM_001271285.1):c.162+5G>A (p.?) - CCDC78_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1395del r.(?) p.(=) Unknown - VUS g.771376del - FAM173A(NM_023933.3):c.102delC (p.Y35Tfs*72) - CCDC78_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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