Full data view for gene MYBPC1

Information The variants shown are described using the NM_002465.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-75G>T r.(?) p.(=) Unknown - benign g.101988774G>T g.101594996G>T - - MYBPC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17A>T r.(?) p.(Lys6Met) Parent #1 - likely benign g.101988865A>T g.101595087A>T - - MYBPC1_000022 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201472372 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.26-9C>T r.(=) p.(=) Unknown - benign g.102008265C>T g.101614487C>T MYBPC1(NM_002465.4):c.26-9C>T - MYBPC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.103+17G>A r.(=) p.(=) Unknown - benign g.102011038G>A g.101617260G>A MYBPC1(NM_002465.4):c.103+17G>A - MYBPC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.179-20_179-12del r.(=) p.(=) Unknown - benign g.102023192_102023200del g.101629414_101629422del MYBPC1(NM_002465.4):c.179-20_179-12delTCCTCCTTT - MYBPC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309A>T r.(?) p.(Ile103=) Unknown - likely benign g.102025368A>T - MYBPC1(NM_002465.3):c.309A>T (p.I103=) - MYBPC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420C>T r.(?) p.(Thr140=) Unknown - benign g.102025479C>T g.101631701C>T MYBPC1(NM_002465.4):c.420C>T (p.T140=) - MYBPC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.556+9G>A r.(=) p.(=) Unknown - benign g.102025925G>A g.101632147G>A MYBPC1(NM_002465.4):c.556+9G>A - MYBPC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.556+10C>G r.(=) p.(=) Unknown - benign g.102025926C>G g.101632148C>G MYBPC1(NM_002465.4):c.556+10C>G - MYBPC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.556+10C>G r.(=) p.(=) Unknown - benign g.102025926C>G g.101632148C>G MYBPC1(NM_002465.4):c.556+10C>G - MYBPC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.608+9A>G r.(=) p.(=) Unknown - benign g.102028392A>G g.101634614A>G MYBPC1(NM_002465.4):c.608+9A>G - MYBPC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.774C>T r.(?) p.(Asp258=) Unknown - benign g.102036305C>T g.101642527C>T MYBPC1(NM_002465.4):c.774C>T (p.D258=) - MYBPC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.774C>T r.(?) p.(Asp258=) Unknown - benign g.102036305C>T g.101642527C>T MYBPC1(NM_002465.4):c.774C>T (p.D258=) - MYBPC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.788T>G r.(?) p.(Leu263Arg) Unknown - likely pathogenic g.102036319T>G - MYBPC1(NM_002465.4):c.788T>G (p.L263R) - MYBPC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.952C>T r.(?) p.(Arg318*) Both (homozygous) - pathogenic g.102038561C>T g.101644783C>T - - MYBPC1_000001 - - - - Germline - - - - - DNA PCRdig, SEQ-NG-I - - LCCS4 - - - M yes Israel Bedouin - - - - 1 Ginat Narkis
?/. - c.1084G>A r.(?) p.(Val362Ile) Unknown - VUS g.102040659G>A g.101646881G>A MYBPC1(NM_002465.4):c.1084G>A (p.V362I) - MYBPC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1386A>T r.(?) p.(Thr462=) Unknown - benign g.102045031A>T g.101651253A>T MYBPC1(NM_002465.4):c.1386A>T (p.T462=) - MYBPC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1386A>T r.(?) p.(Thr462=) Unknown - benign g.102045031A>T g.101651253A>T MYBPC1(NM_002465.4):c.1386A>T (p.T462=) - MYBPC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1518C>G r.(?) p.(His506Gln) Unknown - benign g.102045163C>G g.101651385C>G MYBPC1(NM_002465.4):c.1518C>G (p.H506Q) - MYBPC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1518C>G r.(?) p.(His506Gln) Unknown - benign g.102045163C>G g.101651385C>G MYBPC1(NM_002465.4):c.1518C>G (p.H506Q) - MYBPC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1522G>A r.(?) p.(Gly508Arg) Unknown - VUS g.102045167G>A - MYBPC1(NM_002465.3):c.1522G>A (p.G508R) - MYBPC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1634-18del r.(=) p.(=) Unknown - benign g.102046875del g.101653097del MYBPC1(NM_002465.4):c.1634-18delC - MYBPC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1745C>A r.(?) p.(Ala582Asp) Unknown - VUS g.102047004C>A - MYBPC1(NM_002465.4):c.1745C>A (p.A582D) - MYBPC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1756C>T r.(?) p.(Arg586Trp) Unknown - likely benign g.102047015C>T g.101653237C>T MYBPC1(NM_002465.4):c.1756C>T (p.R586W) - MYBPC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1928-19T>G r.(=) p.(=) Unknown - benign g.102054917T>G - MYBPC1(NM_002465.4):c.1928-19T>G - MYBPC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2013C>T r.(?) p.(Asp671=) Unknown - benign g.102055021C>T g.101661243C>T MYBPC1(NM_002465.4):c.2013C>T (p.D671=) - MYBPC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2153G>A r.(?) p.(Arg718His) Unknown - VUS g.102056256G>A - MYBPC1(NM_002465.3):c.2153G>A (p.R718H) - MYBPC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2544T>C r.(?) p.(Ile848=) Unknown - benign g.102064118T>C g.101670340T>C MYBPC1(NM_002465.4):c.2544T>C (p.I848=) - MYBPC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2544T>C r.(?) p.(Ile848=) Unknown - benign g.102064118T>C g.101670340T>C MYBPC1(NM_002465.4):c.2544T>C (p.I848=) - MYBPC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2544T>C r.(?) p.(Ile848=) Unknown - benign g.102064118T>C g.101670340T>C MYBPC1(NM_002465.4):c.2544T>C (p.I848=) - MYBPC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2662G>A r.(?) p.(Asp888Asn) Unknown - VUS g.102067253G>A - MYBPC1(NM_002465.3):c.2662G>A (p.D888N) - MYBPC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2809+12T>C r.(=) p.(=) Unknown - benign g.102067412T>C g.101673634T>C MYBPC1(NM_002465.4):c.2809+12T>C - MYBPC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2812C>T r.(?) p.(Arg938Cys) Unknown - VUS g.102069072C>T g.101675294C>T MYBPC1(NM_002465.4):c.2812C>T (p.R938C) - MYBPC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2817A>G r.(?) p.(Pro939=) Unknown - benign g.102069077A>G g.101675299A>G MYBPC1(NM_002465.4):c.2817A>G (p.P939=) - MYBPC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2817A>G r.(?) p.(Pro939=) Unknown - benign g.102069077A>G g.101675299A>G MYBPC1(NM_002465.4):c.2817A>G (p.P939=) - MYBPC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3402A>G r.(?) p.(Thr1134=) Unknown - likely benign g.102074276A>G - MYBPC1(NM_002465.3):c.3402A>G (p.T1134=) - MYBPC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*45C>T r.(=) p.(=) Parent #1 - likely benign g.102079385C>T g.101685607C>T - - MYBPC1_000023 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73390504 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.*78G>A r.(=) p.(=) Unknown - benign g.102079418G>A g.101685640G>A MYBPC1(NM_001254723.2):c.3378G>A (p.S1126=), MYBPC1(NM_001254723.3):c.3378G>A (p.S1126=) - MYBPC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*78G>A r.(=) p.(=) Unknown - benign g.102079418G>A g.101685640G>A MYBPC1(NM_001254723.2):c.3378G>A (p.S1126=), MYBPC1(NM_001254723.3):c.3378G>A (p.S1126=) - MYBPC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*78G>A r.(=) p.(=) Unknown - benign g.102079418G>A g.101685640G>A MYBPC1(NM_001254723.2):c.3378G>A (p.S1126=), MYBPC1(NM_001254723.3):c.3378G>A (p.S1126=) - MYBPC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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