Full data view for gene LDB3

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

524 entries on 6 pages. Showing entries 1 - 100.
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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.-15G>A r.(?) p.(=) Unknown - benign g.88428434G>A - LDB3(NM_001171610.2):c.-15G>A - LDB3_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9C>A r.(?) p.(Tyr3Ter) Unknown - VUS g.88428457C>A g.86668700C>A - - LDB3_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18C>T r.(?) p.(Thr6=) Unknown - likely benign g.88428466C>T g.86668709C>T LDB3(NM_001171610.2):c.18C>T (p.T6=) - LDB3_000352 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.30C>T r.(?) p.(Pro10=) Unknown - benign g.88428478C>T g.86668721C>T LDB3(NM_001171610.2):c.30C>T (p.P10=) - LDB3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Gly11Arg) Unknown - VUS g.88428479G>A g.86668722G>A LDB3(NM_007078.2):c.31G>A (p.G11R) - LDB3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.54G>C r.(?) p.(Gln18His) Unknown - VUS g.88428502G>C - LDB3(NM_001171610.2):c.54G>C (p.Q18H) - LDB3_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56G>C r.(?) p.(Gly19Ala) Unknown - VUS g.88428504G>C g.86668747G>C LDB3(NM_007078.2):c.56G>C (p.G19A) - LDB3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.59del r.(?) p.(Gly20AlafsTer41) Unknown - VUS g.88428507del g.86668750del LDB3(NM_001171610.1):c.59delG (p.G20Afs*41), LDB3(NM_001171610.2):c.59delG (p.G20Afs*41), LDB3(NM_007078.2):c.59del (p.(Gly20AlafsTer41)) - LDB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.59del r.(?) p.(Gly20AlafsTer41) Unknown - VUS g.88428507del g.86668750del LDB3(NM_001171610.1):c.59delG (p.G20Afs*41), LDB3(NM_001171610.2):c.59delG (p.G20Afs*41), LDB3(NM_007078.2):c.59del (p.(Gly20AlafsTer41)) - LDB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59del r.(?) p.(Gly20AlafsTer41) Unknown - VUS g.88428507del g.86668750del LDB3(NM_001171610.1):c.59delG (p.G20Afs*41), LDB3(NM_001171610.2):c.59delG (p.G20Afs*41), LDB3(NM_007078.2):c.59del (p.(Gly20AlafsTer41)) - LDB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59del r.(?) p.(Gly20AlafsTer41) Unknown - VUS g.88428507del g.86668750del LDB3(NM_001171610.1):c.59delG (p.G20Afs*41), LDB3(NM_001171610.2):c.59delG (p.G20Afs*41), LDB3(NM_007078.2):c.59del (p.(Gly20AlafsTer41)) - LDB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59del r.(?) p.(Gly20AlafsTer41) Unknown - VUS g.88428507del - LDB3(NM_001171610.1):c.59delG (p.G20Afs*41), LDB3(NM_001171610.2):c.59delG (p.G20Afs*41), LDB3(NM_007078.2):c.59del (p.(Gly20AlafsTer41)) - LDB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Trp) Unknown - VUS g.88428539C>T g.86668782C>T LDB3(NM_001171610.1):c.91C>T (p.R31W), LDB3(NM_001171610.2):c.91C>T (p.R31W) - LDB3_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Trp) Unknown - VUS g.88428539C>T g.86668782C>T LDB3(NM_001171610.1):c.91C>T (p.R31W), LDB3(NM_001171610.2):c.91C>T (p.R31W) - LDB3_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Trp) Unknown - VUS g.88428539C>T - LDB3(NM_001171610.1):c.91C>T (p.R31W), LDB3(NM_001171610.2):c.91C>T (p.R31W) - LDB3_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92G>A r.(?) p.(Arg31Gln) Unknown - VUS g.88428540G>A g.86668783G>A - - LDB3_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.93+13T>C r.(=) p.(=) Unknown - benign g.88428554T>C g.86668797T>C LDB3(NM_001171610.2):c.93+13T>C - LDB3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.93+1916T>G r.(=) p.(=) Parent #1 - benign g.88430457T>G g.86670700T>G - - LDB3_000015 - PubMed: Griggs 2007 - rs2354363 Germline - - - 0 - DNA SEQ - - MFM 17337483-Fam PubMed: Markesbery 1974, PubMed: Griggs 2007 4-generation family, 12 affecteds (6 deceased), 4 unaffected carriers - - Finland - - 0 - - 6 Johan den Dunnen
-/. 2i c.93+3657G>A r.(=) p.(=) Parent #1 - benign g.88432198G>A g.86672441G>A - - LDB3_000016 - PubMed: Griggs 2007 - rs10788522 Germline - - - 0 - DNA SEQ - - MFM 17337483-Fam PubMed: Markesbery 1974, PubMed: Griggs 2007 4-generation family, 12 affecteds (6 deceased), 4 unaffected carriers - - Finland - - 0 - - 6 Johan den Dunnen
-/. - c.94-30G>A r.(=) p.(=) Unknown - benign g.88439094G>A g.86679337G>A LDB3(NM_007078.2):c.94-30G>A - LDB3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.94-20C>T r.(=) p.(=) Unknown - benign g.88439104C>T g.86679347C>T LDB3(NM_001171610.2):c.94-20C>T - LDB3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.94-20C>T r.(=) p.(=) Unknown - likely benign g.88439104C>T g.86679347C>T LDB3(NM_001171610.2):c.94-20C>T - LDB3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Thr33Ile) Unknown - VUS g.88439128C>T g.86679371C>T LDB3(NM_007078.2):c.98C>T (p.T33I) - LDB3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.105C>G r.(?) p.(Gly35=) Unknown - benign g.88439135C>G g.86679378C>G LDB3(NM_001171610.2):c.105C>G (p.G35=) - LDB3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.107G>A r.(?) p.(Ser36Asn) Unknown - VUS g.88439137G>A g.86679380G>A LDB3(NM_001171610.2):c.107G>A (p.S36N) - LDB3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.114A>C r.(?) p.(Ala38=) Unknown - benign g.88439144A>C g.86679387A>C LDB3(NM_001171610.2):c.114A>C (p.A38=) - LDB3_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.144C>T r.(?) p.(Leu48=) Unknown - benign g.88439174C>T g.86679417C>T LDB3(NM_001171610.2):c.144C>T (p.L48=) - LDB3_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>C r.(?) p.(Val49Leu) Unknown - VUS g.88439175G>C g.86679418G>C LDB3(NM_001171610.1):c.145G>C (p.V49L) - LDB3_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147G>A r.(?) p.(Val49=) Unknown - benign g.88439177G>A g.86679420G>A LDB3(NM_001171610.2):c.147G>A (p.V49=) - LDB3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>A r.(?) p.(Val49=) Unknown - likely benign g.88439177G>A g.86679420G>A LDB3(NM_001171610.2):c.147G>A (p.V49=) - LDB3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>A r.(?) p.(Val49=) Unknown - likely benign g.88439177G>A g.86679420G>A LDB3(NM_001171610.2):c.147G>A (p.V49=) - LDB3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.147G>A r.(?) p.(Val49=) Unknown - benign g.88439177G>A g.86679420G>A LDB3(NM_001171610.2):c.147G>A (p.V49=) - LDB3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Gly54Ser) Unknown - VUS g.88439190G>A g.86679433G>A LDB3(NM_001171610.1):c.160G>A (p.G54S), LDB3(NM_001171610.2):c.160G>A (p.G54S) - LDB3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Gly54Ser) Unknown - VUS g.88439190G>A g.86679433G>A LDB3(NM_001171610.1):c.160G>A (p.G54S), LDB3(NM_001171610.2):c.160G>A (p.G54S) - LDB3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Gly54Ser) Unknown - VUS g.88439190G>A g.86679433G>A LDB3(NM_001171610.1):c.160G>A (p.G54S), LDB3(NM_001171610.2):c.160G>A (p.G54S) - LDB3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.163G>A r.(?) p.(Val55Ile) Unknown - benign g.88439193G>A g.86679436G>A LDB3(NM_001171610.2):c.163G>A (p.V55I), LDB3(NM_007078.2):c.163G>A (p.V55I) - LDB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.163G>A r.(?) p.(Val55Ile) Unknown - benign g.88439193G>A g.86679436G>A LDB3(NM_001171610.2):c.163G>A (p.V55I), LDB3(NM_007078.2):c.163G>A (p.V55I) - LDB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.163G>A r.(?) p.(Val55Ile) Unknown - benign g.88439193G>A g.86679436G>A LDB3(NM_001171610.2):c.163G>A (p.V55I), LDB3(NM_007078.2):c.163G>A (p.V55I) - LDB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.163G>A r.(?) p.(Val55Ile) Unknown - benign g.88439193G>A g.86679436G>A GTC>ATC codon 55 - LDB3_000005 found in patients and controls PubMed: Arimura 2004 - rs3740343 Germline - - - 0 - DNA SEQ, SSCA - - Healthy/Control 14660611-p/c PubMed: Arimura 2004 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.163G>A r.(?) p.(Val55Ile) Unknown - benign g.88439193G>A g.86679436G>A LDB3(NM_001171610.2):c.163G>A (p.V55I), LDB3(NM_007078.2):c.163G>A (p.V55I) - LDB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163G>A r.(?) p.(Val55Ile) Parent #1 - likely benign g.88439193G>A g.86679436G>A - - LDB3_000005 51 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3740343 Germline - 51/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 51 Mohammed Faruq
-?/. - c.163G>A r.(?) p.(Val55Ile) Both (homozygous) - likely benign g.88439193G>A g.86679436G>A - - LDB3_000005 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3740343 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.167A>G r.(?) p.(Asn56Ser) Unknown - VUS g.88439197A>G g.86679440A>G LDB3(NM_001171610.2):c.167A>G (p.N56S) - LDB3_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.167A>G r.(?) p.(Asn56Ser) Unknown - likely benign g.88439197A>G g.86679440A>G LDB3(NM_001171610.2):c.167A>G (p.N56S) - LDB3_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246-8T>A r.(=) p.(=) Unknown - benign g.88439831T>A g.86680074T>A LDB3(NM_007078.2):c.246-8T>A - LDB3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.246-8T>A r.(=) p.(=) Unknown - likely benign g.88439831T>A g.86680074T>A LDB3(NM_007078.2):c.246-8T>A - LDB3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273G>A r.(?) p.(Thr91=) Unknown - benign g.88439866G>A g.86680109G>A LDB3(NM_001171610.2):c.273G>A (p.T91=), LDB3(NM_007078.2):c.273G>A (p.T91=) - LDB3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Thr91=) Unknown - likely benign g.88439866G>A g.86680109G>A LDB3(NM_001171610.2):c.273G>A (p.T91=), LDB3(NM_007078.2):c.273G>A (p.T91=) - LDB3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.281C>T r.(?) p.(Pro94Leu) Unknown - VUS g.88439874C>T g.86680117C>T LDB3(NM_001171610.2):c.281C>T (p.P94L) - LDB3_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295C>T r.(?) p.(Pro99Ser) Unknown - VUS g.88439888C>T g.86680131C>T LDB3(NM_001171610.2):c.295C>T (p.P99S) - LDB3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.295C>T r.(?) p.(Pro99Ser) Parent #1 - likely benign g.88439888C>T g.86680131C>T - - LDB3_000119 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201693259 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.299T>C r.(?) p.(Leu100Pro) Unknown - VUS g.88439892T>C g.86680135T>C LDB3(NM_001171610.2):c.299T>C (p.L100P) - LDB3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - benign g.88439895C>T g.86680138C>T LDB3(NM_001080114.1):c.302C>T (p.(Pro101Leu)), LDB3(NM_001171610.2):c.302C>T (p.P101L), LDB3(NM_007078.2):c.302C>T (p.P101L) - LDB3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - likely benign g.88439895C>T g.86680138C>T LDB3(NM_001080114.1):c.302C>T (p.(Pro101Leu)), LDB3(NM_001171610.2):c.302C>T (p.P101L), LDB3(NM_007078.2):c.302C>T (p.P101L) - LDB3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - benign g.88439895C>T g.86680138C>T LDB3(NM_001080114.1):c.302C>T (p.(Pro101Leu)), LDB3(NM_001171610.2):c.302C>T (p.P101L), LDB3(NM_007078.2):c.302C>T (p.P101L) - LDB3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - likely benign g.88439895C>T g.86680138C>T LDB3(NM_001080114.1):c.302C>T (p.(Pro101Leu)), LDB3(NM_001171610.2):c.302C>T (p.P101L), LDB3(NM_007078.2):c.302C>T (p.P101L) - LDB3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - benign g.88439895C>T g.86680138C>T LDB3(NM_001080114.1):c.302C>T (p.(Pro101Leu)), LDB3(NM_001171610.2):c.302C>T (p.P101L), LDB3(NM_007078.2):c.302C>T (p.P101L) - LDB3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318G>A r.(?) p.(Gln106=) Unknown - likely benign g.88439911G>A g.86680154G>A LDB3(NM_001171610.2):c.318G>A (p.Q106=) - LDB3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.318G>A r.(?) p.(Gln106=) Unknown - likely benign g.88439911G>A g.86680154G>A LDB3(NM_001171610.2):c.318G>A (p.Q106=) - LDB3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.321+19G>A r.(=) p.(=) Unknown - likely benign g.88439933G>A g.86680176G>A LDB3(NM_001171610.2):c.321+19G>A - LDB3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.322-20C>T r.(=) p.(=) Unknown - likely benign g.88441173C>T g.86681416C>T - - LDB3_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>A r.(?) p.(Gly115Ser) Unknown - VUS g.88441214G>A g.86681457G>A LDB3(NM_001171610.2):c.343G>A (p.G115S) - LDB3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.343G>A r.(?) p.(Gly115Ser) Unknown - VUS g.88441214G>A g.86681457G>A - - LDB3_000124 - PubMed: Walsh 2017 - - Germline - 1/740 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.343G>C r.(?) p.(Gly115Arg) Unknown - VUS g.88441214G>C g.86681457G>C LDB3(NM_007078.2):c.343G>C (p.(Gly115Arg)) - LDB3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.352G>A r.(?) p.(Val118Met) Unknown - benign g.88441223G>A g.86681466G>A LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M) - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.352G>A r.(?) p.(Val118Met) Unknown - likely benign g.88441223G>A g.86681466G>A LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M) - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.352G>A r.(?) p.(Val118Met) Unknown - likely benign g.88441223G>A g.86681466G>A LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M) - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.352G>A r.(?) p.(Val118Met) Unknown - benign g.88441223G>A g.86681466G>A LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M) - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.352G>A r.(?) p.(Val118Met) Unknown - likely benign g.88441223G>A g.86681466G>A LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M) - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.352G>A r.(?) p.(Val118Met) Unknown - benign g.88441223G>A g.86681466G>A LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M) - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368G>A r.(?) p.(Ser123Asn) Unknown - VUS g.88441239G>A g.86681482G>A LDB3(NM_007078.2):c.368G>A (p.S123N) - LDB3_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.378G>A r.(?) p.(Ala126=) Unknown - benign g.88441249G>A g.86681492G>A LDB3(NM_001171610.2):c.378G>A (p.A126=) - LDB3_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.399_407del r.(?) p.(Gly134_Pro136del) Unknown - VUS g.88441270_88441278del g.86681513_86681521del LDB3(NM_001171610.2):c.399_407delAGGCACCCC (p.G134_P136del) - LDB3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A r.(?) p.(Pro136=) Unknown - likely benign g.88441279G>A g.86681522G>A LDB3(NM_001171610.2):c.408G>A (p.P136=) - LDB3_000354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408G>T r.(?) p.(Pro136=) Unknown - benign g.88441279G>T g.86681522G>T LDB3(NM_001171610.2):c.408G>T (p.P136=) - LDB3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(Ala145=) Unknown - likely benign g.88441306C>T g.86681549C>T LDB3(NM_001171610.1):c.435C>T (p.A145=) - LDB3_000355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.465C>T r.(?) p.(Leu155=) Unknown - benign g.88441336C>T g.86681579C>T LDB3(NM_001171610.2):c.465C>T (p.L155=), LDB3(NM_007078.2):c.465C>T (p.L155=) - LDB3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>T r.(?) p.(Leu155=) Unknown - likely benign g.88441336C>T g.86681579C>T LDB3(NM_001171610.2):c.465C>T (p.L155=), LDB3(NM_007078.2):c.465C>T (p.L155=) - LDB3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>T r.(?) p.(Leu155=) Unknown - likely benign g.88441336C>T g.86681579C>T LDB3(NM_001171610.2):c.465C>T (p.L155=), LDB3(NM_007078.2):c.465C>T (p.L155=) - LDB3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>T r.(?) p.(Leu155=) Unknown - likely benign g.88441336C>T g.86681579C>T LDB3(NM_001171610.2):c.465C>T (p.L155=), LDB3(NM_007078.2):c.465C>T (p.L155=) - LDB3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.465C>T r.(?) p.(Leu155=) Unknown - benign g.88441336C>T g.86681579C>T LDB3(NM_001171610.2):c.465C>T (p.L155=), LDB3(NM_007078.2):c.465C>T (p.L155=) - LDB3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.466G>A r.(?) p.(Ala156Thr) Unknown - benign g.88441337G>A g.86681580G>A LDB3(NM_001171610.1):c.466G>A (p.A156T), LDB3(NM_001171610.2):c.466G>A (p.A156T) - LDB3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>A r.(?) p.(Ala156Thr) Unknown - likely benign g.88441337G>A g.86681580G>A LDB3(NM_001171610.1):c.466G>A (p.A156T), LDB3(NM_001171610.2):c.466G>A (p.A156T) - LDB3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>A r.(?) p.(Ala156Thr) Unknown - likely benign g.88441337G>A g.86681580G>A LDB3(NM_001171610.1):c.466G>A (p.A156T), LDB3(NM_001171610.2):c.466G>A (p.A156T) - LDB3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>A r.(?) p.(Ala156Thr) Unknown - likely benign g.88441337G>A g.86681580G>A LDB3(NM_001171610.1):c.466G>A (p.A156T), LDB3(NM_001171610.2):c.466G>A (p.A156T) - LDB3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>A r.(?) p.(Ala156Thr) Unknown - likely benign g.88441337G>A g.86681580G>A LDB3(NM_001171610.1):c.466G>A (p.A156T), LDB3(NM_001171610.2):c.466G>A (p.A156T) - LDB3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468C>T r.(?) p.(Ala156=) Unknown - benign g.88441339C>T g.86681582C>T LDB3(NM_001171610.2):c.468C>T (p.A156=) - LDB3_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.493C>T r.(?) p.(Arg165Trp) Unknown - benign g.88441364C>T - LDB3(NM_001171610.2):c.493C>T (p.R165W) - LDB3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494G>A r.(?) p.(Arg165Gln) Unknown - VUS g.88441365G>A - LDB3(NM_001171610.2):c.494G>A (p.R165Q) - LDB3_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496G>A r.(?) p.(Ala166Thr) Unknown - likely benign g.88441367G>A g.86681610G>A LDB3(NM_001171610.2):c.496G>A (p.A166T) - LDB3_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.498C>A r.(?) p.(Ala166=) Unknown - likely benign g.88441369C>A g.86681612C>A LDB3(NM_007078.2):c.498C>A (p.A166=) - LDB3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.508G>T r.(?) p.(Ala170Ser) Unknown - likely benign g.88441379G>T g.86681622G>T LDB3(NM_007078.2):c.508G>T (p.A170S) - LDB3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.530C>A r.(?) p.(Ala177Asp) Unknown - VUS g.88441401C>A g.86681644C>A - - LDB3_000368 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/740 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.530C>T r.(?) p.(Ala177Val) Unknown - likely benign g.88441401C>T g.86681644C>T - - LDB3_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.533G>T r.(?) p.(Arg178Leu) Unknown - likely benign g.88441404G>T g.86681647G>T - - LDB3_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.544G>C r.(?) p.(Gly182Arg) Unknown - likely benign g.88441415G>C - LDB3(NM_001171610.1):c.544G>C (p.G182R) - LDB3_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.560C>T r.(?) p.(Pro187Leu) Unknown - likely benign g.88441431C>T - LDB3(NM_001171610.2):c.560C>T (p.P187L) - LDB3_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.566C>T r.(?) p.(Ser189Leu) Maternal (confirmed) - pathogenic (dominant) g.88441437C>T g.86681680C>T 587C>T (S196L) - LDB3_000009 not in 400 control chromosomes PubMed: Vatta 2003, OMIM:var0005 - - Germline - - - 0 - DNA DHPLC, SEQ - - CMD - PubMed: Vatta 2003 affected mother, 2 brothers and nephew M - United States - >40y 0 - - 5 Johan den Dunnen
+/. 5 c.566C>T r.566c>u p.Ser189Leu Unknown - pathogenic (dominant) g.88441437C>T g.86681680C>T - - LDB3_000009 expression cloning COS7 cells, reduced binding to PGM2 PubMed: Arimura 2009 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Arimura 2009 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.566C>T r.(?) p.(Ser189Leu) Unknown - likely benign g.88441437C>T g.86681680C>T LDB3(NM_001080115.1):c.566C>T (p.(Ser189Leu)), LDB3(NM_001171610.2):c.566C>T (p.S189L) - LDB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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