Full data view for gene MMP13

Information The variants shown are described using the NM_002427.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.7C>T r.(?) p.(Pro3Ser) Unknown - likely benign g.102826428G>A - MMP13(NM_002427.3):c.7C>T (p.P3S) - MMP13_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - likely benign g.102826383G>A - MMP13(NM_002427.3):c.52C>T (p.(Arg18Trp)) - MMP13_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109C>G r.(?) p.(Gln37Glu) Unknown - likely benign g.102826326G>C - MMP13(NM_002427.3):c.109C>G (p.(Gln37Glu)) - MMP13_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158C>T r.(?) p.(Ala53Val) Unknown - VUS g.102826185G>A - MMP13(NM_002427.3):c.158C>T (p.(Ala53Val)) - MMP13_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.221T>C r.(?) p.(Phe74Ser) Parent #1 - pathogenic g.102826122A>G g.102955393A>G 249T>C (Phe55Ser) - MMP13_000003 - PubMed: Lausch 2009, OMIM:var0002 - rs121909498 Germline yes - - - - DNA SEQ ? - MANDP1 - PubMed: Lausch 2009 4-generation family, 3 affecteds (3F) F no Germany - - - - - 3 Dong Li
+/? 2 c.224T>C r.(?) p.(Phe75Ser) Parent #1 - pathogenic g.102826119A>G g.102955390A>G T>C (Phe56Ser) - MMP13_000002 performed functional analysis PubMed: Kennedy 2005, OMIM:var0001 - rs121909497 Germline yes - - - - DNA SEQ ? - MANDP1 - PubMed: Kennedy 2005 4-generation family, 14 affecteds (7F, 7M) - no United Kingdom (Great Britain) - - - - - 14 Dong Li
+/? 2 c.272T>C r.(?) p.(Met91Thr) Parent #1 - pathogenic g.102826071A>G g.102955342A>G 300T>C (Met72Thr) - MMP13_000004 - PubMed: Lausch 2009, OMIM:var0003 - rs121909499 Germline yes - - - - DNA SEQ ? - MANDP1 - PubMed: Lausch 2009 4-generation family, 4 affecteds (F, 3M) - no Germany - - - - - 4 Dong Li
+/? 2 c.272T>C r.(?) p.(Met91Thr) Parent #1 - pathogenic g.102826071A>G g.102955342A>G 300T>C (Met72Thr) - MMP13_000004 - PubMed: Lausch 2009, OMIM:var0003 - rs121909499 Germline yes - - - - DNA SEQ ? - MANDP1 - PubMed: Lausch 2009 2-generation family, 3 affecteds (3F) F no Japan - - - - - 3 Dong Li
?/. - c.287_293del r.(?) p.(Cys96Phefs*19) Unknown - VUS g.102826051_102826057del - MMP13(NM_002427.3):c.287_293delGCGGGGT (p.(Cys96fs)) - MMP13_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>T r.(?) p.(Val101Leu) Unknown - VUS g.102826042C>A - MMP13(NM_002427.4):c.301G>T (p.(Val101Leu)) - MMP13_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.325C>T r.(?) p.(Arg109*) Both (homozygous) - pathogenic g.102826018G>A g.102955289G>A - - MMP13_000001 - - - rs369083541 Germline yes - - - - DNA SEQ, SEQ-NG - - ? - - - M - Albania - - - - - 2 Dong Li
?/. - c.326G>T r.(?) p.(Arg109Leu) Unknown - VUS g.102826017C>A - MMP13(NM_002427.4):c.326G>T (p.(Arg109Leu)) - MMP13_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509A>C r.(?) p.(Lys170Thr) Unknown - likely benign g.102825189T>G g.102954460T>G MMP13(NM_002427.3):c.509A>C (p.(Lys170Thr)) - MMP13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554T>C r.(?) p.(Leu185Pro) Unknown - VUS g.102824968A>G - MMP13(NM_002427.4):c.554T>C (p.(Leu185Pro)) - MMP13_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.619T>G r.(?) p.(Trp207Gly) Both (homozygous) ACMG pathogenic g.102824903A>C g.102954174A>C - - MMP13_000006 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDST - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. - c.673G>A r.(?) p.(Gly225Ser) Unknown - VUS g.102822867C>T - MMP13(NM_002427.3):c.673G>A (p.(Gly225Ser)) - MMP13_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.694C>A r.(?) p.(His232Asn) Paternal (confirmed) - pathogenic g.102822846G>T g.102952117G>T 722C>A (His213Asn) - MMP13_000005 - PubMed: Lausch 2009, OMIM:var0004 - rs121909500 Germline yes - - - - DNA SEQ ? - MANDP1 - PubMed: Lausch 2009 2-generation family, 1 affected M yes Morocco - - - - - 1 Dong Li
+/? 5 c.694C>A r.(?) p.(His232Asn) Maternal (confirmed) - pathogenic g.102822846G>T g.102952117G>T 722C>A (His213Asn) - MMP13_000005 - PubMed: Lausch 2009, OMIM:var0004 - rs121909500 Germline yes - - - - DNA SEQ ? - MANDP1 - PubMed: Lausch 2009 2-generation family, 1 affected M yes Morocco - - - - - 1 Dong Li
?/. - c.719T>A r.(?) p.(Met240Lys) Unknown - VUS g.102822821A>T - MMP13(NM_002427.3):c.719T>A (p.(Met240Lys)) - MMP13_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.751C>A r.(?) p.(His251Asn) Unknown - likely benign g.102822789G>T - MMP13(NM_002427.3):c.751C>A (p.(His251Asn)) - MMP13_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799+7C>T r.(=) p.(=) Unknown - likely benign g.102822734G>A g.102952005G>A MMP13(NM_002427.3):c.799+7C>T (p.(=)) - MMP13_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.799+8G>A r.(=) p.(=) Unknown - benign g.102822733C>T g.102952004C>T MMP13(NM_002427.4):c.799+8G>A - MMP13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.874G>A r.(?) p.(Ala292Thr) Unknown - VUS g.102820882C>T - MMP13(NM_002427.4):c.874G>A (p.(Ala292Thr)) - MMP13_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.935A>G r.(?) p.(His312Arg) Unknown - VUS g.102819870T>C - MMP13(NM_002427.4):c.935A>G (p.H312R) - MMP13_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951T>G r.(?) p.(Asp317Glu) Unknown - likely benign g.102819854A>C - MMP13(NM_002427.3):c.951T>G (p.(Asp317Glu)) - MMP13_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1015G>A r.(?) p.(Glu339Lys) Unknown - VUS g.102819790C>T - MMP13(NM_002427.4):c.1015G>A (p.E339K) - MMP13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214A>G r.(?) p.(Tyr405Cys) Unknown - VUS g.102816476T>C g.102945747T>C MMP13(NM_002427.4):c.1214A>G (p.(Tyr405Cys)) - MMP13_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1280T>C r.(?) p.(Ile427Thr) Unknown - VUS g.102816410A>G - MMP13(NM_002427.3):c.1280T>C (p.(Ile427Thr)) - MMP13_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1336G>A r.(?) p.(Gly446Arg) Unknown - VUS g.102815075C>T - MMP13(NM_002427.3):c.1336G>A (p.(Gly446Arg)) - MMP13_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1372C>T r.(?) p.(Arg458Cys) Unknown - VUS g.102815039G>A - MMP13(NM_002427.3):c.1372C>T (p.(Arg458Cys)) - MMP13_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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