Full data view for gene MADD

Information The variants shown are described using the NM_003682.3 transcript reference sequence.

390 entries on 4 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     
+/. 30i_36_ c.4377+3992_*881{0} r.? p.? Unknown ACMG pathogenic g.47340870_47359757del - - - MYBPC3_001267 - PubMed: Singer 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - CMH CMD1 PubMed: Singer 2021 - - - Australia - - - - - 1 Johan den Dunnen
?/. - c.241C>T r.(?) p.(Leu81Phe) Unknown - VUS g.47296292C>T - MADD(NM_001376571.1):c.241C>T (p.(Leu81Phe)) - MADD_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295C>T r.(?) p.(Arg99Cys) Unknown - VUS g.47296346C>T - MADD(NM_001376576.1):c.295C>T (p.R99C) - MADD_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311G>C r.(?) p.(Arg104Pro) Unknown - VUS g.47296362G>C - MADD(NM_001376571.1):c.311G>C (p.(Arg104Pro)) - MADD_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.593G>A r.(?) p.(Arg198His) Parent #1 - likely pathogenic (recessive) g.47296644G>A g.47275093G>A - - MADD_000082 - PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 17DG0770 PubMed: Anazi 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.646C>T r.(?) p.(Arg216*) Both (homozygous) - pathogenic (recessive) g.47296697C>T g.47275146C>T - - MADD_000067 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat7 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - South America 00y08m - - - 1 Johan den Dunnen
+/. - c.770C>T r.770c>u p.Ser257Phe Both (homozygous) - pathogenic (recessive) g.47297560C>T g.47276009C>T - - MADD_000071 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat11 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab, Berbers - - - - 1 Johan den Dunnen
?/. - c.796C>T r.(?) p.(Arg266*) Unknown - VUS g.47297586C>T - MADD(NM_001376571.1):c.796C>T (p.(Arg266*)) - MADD_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.914G>T r.914g>u p.Gly305Val Maternal (confirmed) - pathogenic (recessive) g.47297704G>T g.47276153G>T - - MADD_000010 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam1Pat2 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F no Germany white - - - - 2 Johan den Dunnen
+/. - c.914G>T r.(?) p.(Gly305Val) Maternal (confirmed) - pathogenic (recessive) g.47297704G>T - - - MADD_000010 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam1Pat1 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no Germany white 07y05m - - - 1 Johan den Dunnen
+/. - c.963+1G>A r.[934_963del,963_964insatgagag,914_963del] p.[Leu313_Val322del,Val323Argfs*72,Val306Glyfs*70] Both (homozygous) - pathogenic (recessive) g.47297754G>A - - - MADD_000075 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam2Pat3 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes - Arab 00y20m - - - 2 Johan den Dunnen
+/. - c.963+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.47297754G>A - - - MADD_000075 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam2Pat4 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 sister F yes - Arab - - - - 1 Johan den Dunnen
+/. - c.979C>T r.(?) p.(Arg327*) Both (homozygous) - pathogenic (recessive) g.47298298C>T g.47276747C>T - - MADD_000068 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat8 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white 00y22m - - - 1 Johan den Dunnen
+/. - c.979C>T r.(?) p.(Arg327*) Parent #2 - pathogenic (recessive) g.47298298C>T - - - MADD_000068 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat10 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - 1 Johan den Dunnen
+/. - c.979C>T r.(?) p.(Arg327*) Parent #1 - pathogenic (recessive) g.47298298C>T - - - MADD_000068 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat12 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - 1 Johan den Dunnen
+/. - c.979C>T r.(?) p.(Arg327*) Parent #1 - pathogenic (recessive) g.47298298C>T - - - MADD_000068 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat5 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white;native American 01y04m - - - 1 Johan den Dunnen
+?/. - c.979C>T r.(?) p.(Arg327*) Parent #2 - likely pathogenic (recessive) g.47298298C>T g.47276747C>T - - MADD_000068 - PubMed: Anazi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID 17DG0770 PubMed: Anazi 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.979C>T r.(?) p.(Arg327*) Unknown - pathogenic g.47298298C>T - MADD(NM_001376571.1):c.979C>T (p.(Arg327*)) - MADD_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1017C>T r.(?) p.(Phe339=) Unknown - likely benign g.47298336C>T g.47276785C>T MADD(NM_003682.3):c.1017C>T (p.F339=) - MADD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>A r.(?) p.(Val340Met) Paternal (confirmed) - VUS g.47298337G>A g.47276786G>A - - MADD_000001 - PubMed: Poirier 2017, Journal: Poirier 2017 - - Germline yes - - - - DNA SEQ-NG blood - ID 28145425-Fam PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 3 affecteds, father, daugther and son F;M ? France - - - - - 3 Karine Poirier
+/. - c.1037T>C r.(?) p.(Leu346Pro) Both (homozygous) - pathogenic (recessive) g.47298356T>C g.47276805T>C - - MADD_000077 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat15 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - white - - - - 1 Johan den Dunnen
+?/. - c.1037T>C r.(?) p.(Leu346Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.47298356T>C - - - MADD_000077 ACMG: PS4_MOD, PM1, PM2_SUP, PM3_SUP, PP3 PMID: 32761064 - - Germline ? - - - - DNA SEQ-NG-I - - DD 180385 - - M likely Iraq - - - - - 1 Andreas Laner
+/. - c.1061C>T r.1061c>u p.Pro354Leu Parent #1 - pathogenic (recessive) g.47298380C>T g.47276829C>T - - MADD_000014 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam14Pat18 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no - white - - - - 2 Johan den Dunnen
+/. - c.1061C>T r.(?) p.(Pro354Leu) Parent #1 - pathogenic (recessive) g.47298380C>T - - - MADD_000014 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam14Pat19 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no - white - - - - 1 Johan den Dunnen
+?/. - c.1061C>T r.(?) p.(Pro354Leu) Both (homozygous) - likely pathogenic (recessive) g.47298380C>T g.47276829C>T - - MADD_000014 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M135 PubMed: Hu 2019 family, 1 affected individual - - - - - - - - 1 Johan den Dunnen
+/. - c.1115C>T r.(?) p.(Pro372Leu) Parent #1 - pathogenic (recessive) g.47299735C>T g.47278184C>T - - MADD_000073 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam11Pat13 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India;Pakistan - 02y06m - - - 2 Johan den Dunnen
+/. - c.1115C>T r.(?) p.(Pro372Leu) Parent #1 - pathogenic (recessive) g.47299735C>T - - - MADD_000073 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam11Pat14 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no India;Pakistan - - - - - 1 Johan den Dunnen
?/. - c.1133C>T r.(?) p.(Pro378Leu) Unknown - VUS g.47299753C>T - MADD(NM_001376571.1):c.1133C>T (p.(Pro378Leu)) - MADD_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1483C>T r.(?) p.(Arg495Trp) Unknown - VUS g.47303945C>T g.47282394C>T MADD(NM_003682.3):c.1483C>T (p.R495W) - MADD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1693C>T r.(?) p.(Arg565*) Unknown - pathogenic g.47304155C>T - MADD(NM_001376576.1):c.1693C>T (p.R565*) - MADD_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1705+1G>C r.spl? p.? Parent #2 - pathogenic (recessive) g.47304168G>C g.47282617G>C - - MADD_000076 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat5 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white;native American 01y04m - - - 1 Johan den Dunnen
+/. 10i_24i c.(1862+1_1863-1)_(3759+1_3760-1)del r.[1863_3759del,1706_3759del,1863_3759del;3868_3869ins3868+1_3868-1,1706_3759del;3868_3869ins3868+1_3868-1] p.[Asn569Argfs*2,Ser621Argfs*7] Paternal (confirmed) - pathogenic (recessive) g.(47304521_47305728)_(47317607_47330141)del g.(47282970_47284177)_(47296056_47308590)del - - MADD_000004 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam1Pat2 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F no Germany white - - - - 2 Johan den Dunnen
+/. 10i_24i c.(1862+1_1863-1)_(3759+1_3760-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(47304521_47305728)_(47317607_47330141)del g.(47282970_47284177)_(47296056_47308590)del - - MADD_000004 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam1Pat1 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no Germany white 07y05m - - - 1 Johan den Dunnen
?/. - c.1929T>G r.(?) p.(Ser643Arg) Unknown - VUS g.47305795T>G g.47284244T>G MADD(NM_003682.3):c.1929T>G (p.S643R) - MADD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1964C>T r.(?) p.(Pro655Leu) Unknown - VUS g.47305830C>T - MADD(NM_001376571.1):c.1964C>T (p.(Pro655Leu)) - MADD_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2408A>G r.(?) p.(Asn803Ser) Unknown - likely benign g.47306742A>G g.47285191A>G MADD(NM_003682.3):c.2408A>G (p.N803S) - MADD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2834T>C r.(?) p.(Leu945Pro) Both (homozygous) - pathogenic (recessive) g.47311435T>C g.47289884T>C - - MADD_000017 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam16Pat21 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes - Persian - - - - 2 Johan den Dunnen
+/. - c.2834T>C r.(?) p.(Leu945Pro) Both (homozygous) - pathogenic (recessive) g.47311435T>C - - - MADD_000017 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam16Pat22 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M yes - Persian - - - - 1 Johan den Dunnen
+/. - c.3119T>G r.3119u>g p.Leu1040Arg Both (homozygous) - pathogenic (recessive) g.47311815T>G g.47290264T>G - - MADD_000081 - PubMed: Anazi 2017, Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? 17DG0771/Pat6 PubMed: Anazi 2017, Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab 01y03m - - - 1 Johan den Dunnen
-?/. - c.3238C>T r.(?) p.(Pro1080Ser) Unknown - likely benign g.47312244C>T g.47290693C>T MADD(NM_003682.3):c.3238C>T (p.P1080S) - MADD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3524A>G r.(?) p.(Asp1175Gly) Unknown - VUS g.47317054A>G g.47295503A>G MADD(NM_003682.3):c.3524A>G (p.D1175G) - MADD_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3533_3534del r.(?) p.(Ser1178Cysfs*18) Parent #1 - pathogenic (recessive) g.47317063_47317064del g.47295512_47295513del 3533_3534delCT - MADD_000078 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam13Pat16 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - white - - - - 2 Johan den Dunnen
+/. - c.3533_3534del r.(?) p.(Ser1178Cysfs*18) Parent #1 - pathogenic (recessive) g.47317063_47317064del g.47295512_47295513del 3533_3534delCT - MADD_000078 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam13Pat17 PubMed: Schneeberger 2020 brother M no - - - - - - 1 Johan den Dunnen
+/. - c.3559del r.(?) p.(Met1187Ter) Both (homozygous) - likely pathogenic (recessive) g.47317089del g.47295538del - - MADD_000083 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M135 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - 2 Johan den Dunnen
?/. - c.3600+5G>A r.spl? p.? Unknown - VUS g.47317135G>A - MADD(NM_001376571.1):c.3600+5G>A - MADD_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3637_3638del r.(?) p.(Ser1213*) Parent #2 - pathogenic (recessive) g.47317484_47317485del g.47295933_47295934del 3637_3638delAG - MADD_000005 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam14Pat19 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no - white - - - - 1 Johan den Dunnen
+/. - c.3637_3638del r.3637_3638del p.Ser1213* Parent #2 - pathogenic (recessive) g.47317484_47317485del g.47295933_47295934del 3637_3638delAG - MADD_000005 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam14Pat18 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no - white - - - - 2 Johan den Dunnen
+/. - c.3637_3638del r.(?) p.(Ser1213*) Parent #1 - pathogenic (recessive) g.47317484_47317485del - - - MADD_000005 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat23 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white - - - - 1 Johan den Dunnen
-?/. - c.3683G>A r.(?) p.(Ser1228Asn) Unknown - likely benign g.47317530G>A g.47295979G>A MADD(NM_003682.3):c.3683G>A (p.S1228N) - MADD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3760-2A>C r.spl p.? Parent #1 - pathogenic (recessive) g.47330140A>C g.47308589A>C - - MADD_000070 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat10 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - 1 Johan den Dunnen
-?/. - c.3824C>T r.(?) p.(Ser1275Phe) Unknown - likely benign g.47330206C>T g.47308655C>T MADD(NM_003682.3):c.3824C>T (p.S1275F) - MADD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3848A>C r.(?) p.(Tyr1283Ser) Parent #2 - pathogenic (recessive) g.47330230A>C - - - MADD_000020 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam13Pat17 PubMed: Schneeberger 2020 brother M no - - - - - - 1 Johan den Dunnen
+/. - c.3848A>C r.(?) p.(Tyr1283Ser) Parent #2 - pathogenic (recessive) g.47330230A>C - - - MADD_000020 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam13Pat16 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - white - - - - 2 Johan den Dunnen
+?/. - c.3952T>C r.(?) p.(Trp1318Arg) Both (homozygous) - pathogenic (recessive) g.47330852T>C g.47309301T>C - - MADD_000079 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat20 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Fars 03y - - - 1 Johan den Dunnen
+/. - c.4080del r.(?) p.(Lys1361Serfs*24) Parent #2 - pathogenic (recessive) g.47331085del g.47309534del 4080delG - MADD_000074 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam11Pat14 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 brother M no India;Pakistan - - - - - 1 Johan den Dunnen
+/. - c.4080del r.(?) p.(Lys1361Serfs*24) Parent #2 - pathogenic (recessive) g.47331085del - 4080delG - MADD_000074 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam11Pat13 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India;Pakistan - 02y06m - - - 2 Johan den Dunnen
?/. - c.4277G>A r.(?) p.(Arg1426His) Unknown - VUS g.47336778G>A - MADD(NM_001376571.1):c.4277G>A (p.(Arg1426His)) - MADD_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4293G>A r.(?) p.(Trp1431*) Both (homozygous) - pathogenic (recessive) g.47336794G>A g.47315243G>A - - MADD_000069 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat9 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - 1 Johan den Dunnen
+/. - c.4398del r.(?) p.(Leu1467Cysfs*20) Parent #2 - pathogenic (recessive) g.47345242del - 4398delG - MADD_000072 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat12 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - 1 Johan den Dunnen
+/. - c.4594C>T r.(?) p.(Arg1532*) Parent #2 - pathogenic (recessive) g.47345867C>T g.47324316C>T - - MADD_000080 - Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat23 Schneeberger ESHG2020-C11.4, PubMed: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white - - - - 1 Johan den Dunnen
-?/. - c.4722+9G>A r.(=) p.(=) Unknown - likely benign g.47346137G>A - MADD(NM_001376571.1):c.4722+9G>A - MADD_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4878G>T r.(?) p.(=) Unknown - likely benign g.47350635G>T - MADD(NM_001376571.1):c.4887G>T (p.(Ser1629=)) - MYBPC3_001668 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2161G>A r.(=) p.(=) Unknown - benign g.47352862G>A g.47331311G>A - - MADD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2224del r.(?) p.(=) Unknown - likely benign g.47352925del g.47331374del - - MADD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2357C>T r.(=) p.(=) Unknown - benign g.47353058C>T g.47331507C>T - - MADD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2366del r.(?) p.(=) Unknown - likely benign g.47353067del g.47331516del - - MADD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2395G>A r.(=) p.(=) Unknown - likely benign g.47353096G>A g.47331545G>A - - MADD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2456T>G r.(=) p.(=) Unknown - likely benign g.47353157T>G - MYBPC3(NM_000256.3):c.*137A>C - MYBPC3_001777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2462A>G r.(=) p.(=) Unknown - likely benign g.47353163A>G g.47331612A>G MYBPC3(NM_000256.3):c.*131T>C - MADD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2462A>G r.(=) p.(=) Unknown - likely benign g.47353163A>G - MYBPC3(NM_000256.3):c.*131T>C - MADD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2486T>C r.(=) p.(=) Unknown - benign g.47353187T>C - MYBPC3(NM_000256.3):c.*107A>G - MYBPC3_001588 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2610G>T r.(=) p.(=) Unknown - benign g.47353311G>T g.47331760G>T - - MADD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2679G>C r.(=) p.(=) Unknown - likely benign g.47353380G>C g.47331829G>C MYBPC3(NM_000256.3):c.*26+16C>G - MYBPC3_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2686G>T r.(=) p.(=) Unknown - benign g.47353387G>T - MYBPC3(NM_000256.3):c.*26+9C>A - MYBPC3_001669 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2693A>G r.(=) p.(=) Unknown - VUS g.47353394A>G - MYBPC3(NM_000256.3):c.*26+2T>C - MYBPC3_001028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2714A>G r.(=) p.(=) Unknown - VUS g.47353415A>G g.47331864A>G MYBPC3(NM_000256.3):c.*7T>C - MYBPC3_000574 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2744_*2746del r.(=) p.(=) Unknown - likely benign g.47353445_47353447del g.47331894_47331896del - - MADD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2782A>G r.(=) p.(=) Unknown - benign g.47353483A>G - MYBPC3(NM_000256.3):c.3815-51T>C - MYBPC3_001394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2797G>A r.(=) p.(=) Unknown - benign g.47353498G>A g.47331947G>A MYBPC3(NM_000256.3):c.3815-66C>T - MYBPC3_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2797G>A r.(=) p.(=) Unknown - benign g.47353498G>A g.47331947G>A MYBPC3(NM_000256.3):c.3815-66C>T - MYBPC3_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2808C>T r.(=) p.(=) Unknown - benign g.47353509C>T - MYBPC3(NM_000256.3):c.3815-77G>A - MYBPC3_001552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2809G>A r.(=) p.(=) Unknown - likely benign g.47353510G>A - MYBPC3(NM_000256.3):c.3815-78C>T - MYBPC3_001778 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2818C>G r.(=) p.(=) Unknown - benign g.47353519C>G - MYBPC3(NM_000256.3):c.3815-87G>C - MYBPC3_001670 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2876G>T r.(=) p.(=) Unknown - benign g.47353577G>T - MYBPC3(NM_000256.3):c.3814+46C>A - MYBPC3_001632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2879C>T r.(=) p.(=) Unknown - benign g.47353580C>T - MYBPC3(NM_000256.3):c.3814+43G>A - MYBPC3_001553 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2892T>G r.(=) p.(=) Unknown - benign g.47353593T>G - MYBPC3(NM_000256.3):c.3814+30A>C - MYBPC3_001395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2899C>A r.(=) p.(=) Unknown - benign g.47353600C>A - MYBPC3(NM_000256.3):c.3814+23G>T - MYBPC3_001492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2904dup r.(?) p.(=) Unknown - benign g.47353605dup g.47332054dup MYBPC3(NM_000256.3):c.3814+19dupC - MADD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2904_*2909dup r.(=) p.(=) Unknown - benign g.47353605_47353610dup - MYBPC3(NM_000256.3):c.3814+14_3814+19dupGGGGCC - MYBPC3_001396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2905_*2906insG r.(=) p.(=) Unknown - benign g.47353606_47353607insG g.47332055_47332056insG MYBPC3(NM_000256.3):c.3814+16_3814+17insC - MADD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2921C>T r.(=) p.(=) Unknown - pathogenic g.47353622C>T g.47332071C>T MYBPC3(NM_000256.3):c.3814+1G>A - MYBPC3_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2925G>A r.(=) p.(=) Unknown - pathogenic g.47353626G>A g.47332075G>A MYBPC3(NM_000256.3):c.3811C>T (p.R1271*) - MYBPC3_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2925G>A r.(=) p.(=) Unknown - pathogenic g.47353626G>A - MYBPC3(NM_000256.3):c.3811C>T (p.R1271*) - MYBPC3_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2936C>T r.(=) p.(=) Unknown - VUS g.47353637C>T g.47332086C>T MYBPC3(NM_000256.3):c.3800G>A (p.R1267H) - MYBPC3_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2936C>T r.(=) p.(=) Unknown - VUS g.47353637C>T g.47332086C>T MYBPC3(NM_000256.3):c.3800G>A (p.R1267H) - MYBPC3_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2936C>T r.(=) p.(=) Unknown - VUS g.47353637C>T g.47332086C>T MYBPC3(NM_000256.3):c.3800G>A (p.R1267H) - MYBPC3_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2939C>T r.(=) p.(=) Unknown - likely pathogenic g.47353640C>T g.47332089C>T MYBPC3(NM_000256.3):c.3797G>A (p.C1266Y) - MADD_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2955C>T r.(=) p.(=) Unknown - likely pathogenic g.47353656C>T g.47332105C>T MYBPC3(NM_000256.3):c.3781G>A (p.E1261K) - MYBPC3_000580 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2959C>T r.(=) p.(=) Unknown - likely benign g.47353660C>T g.47332109C>T MYBPC3(NM_000256.3):c.3777G>A (p.Q1259=) - MADD_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2960del r.(?) p.(=) Unknown - pathogenic g.47353661del g.47332110del MYBPC3(NM_000256.3):c.3776del (p.(Gln1259ArgfsTer72)), MYBPC3(NM_000256.3):c.3776delA (p.Q1259Rfs*72) - MYBPC3_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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