All variants in the MMP20 gene

Information The variants shown are described using the NM_004771.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.53A>C r.(?) p.(Lys18Thr) - benign g.102495998T>G g.102625267T>G MMP20(NM_004771.4):c.53A>C (p.K18T) - MMP20_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.53A>C r.(?) p.(Lys18Thr) - benign g.102495998T>G g.102625267T>G - - MMP20_000003 - PubMed: Gasse 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.92C>T r.(?) p.(Pro31Leu) - VUS g.102495959G>A g.102625228G>A - - MMP20_000005 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61730847 Germline - 13/2795 individuals - - - Mohammed Faruq
+/. - c.102G>A r.(?) p.(Trp34*) - pathogenic (recessive) g.102495949C>T g.102625218C>T - - MMP20_000013 - PubMed: Papagerakis 2008 - - Germline - - - - - LOVD
+/. - c.103A>C r.spl p.? - pathogenic (!) g.102495948T>G g.102625217T>G - - MMP20_000024 in minigene splicing assay variants influences splicing, deleting nucleotides c.67 and those upstream PubMed: Kim 2020 - - Germline - - - - - LOVD
+/. - c.103A>C r.spl p.? - pathogenic (!) g.102495948T>G g.102625217T>G - - MMP20_000024 in minigene splicing assay variants influences splicing, deleting nucleotides c.67 and those upstream PubMed: Kim 2020 - - Germline - - - - - LOVD
+?/. - c.126+6T>G r.spl p.? - likely pathogenic (recessive) g.102495919A>C g.102625188A>C - - MMP20_000014 - PubMed: Prasad 2016, PubMed: Gasse 2017 - - Germline - - - - - LOVD
+/. - c.126+6T>G r.spl p.? - pathogenic (recessive) g.102495919A>C - - - MMP20_000014 - PubMed: Prasad 2016 - - Germline - - - - - LOVD
+/. - c.323A>G r.(?) p.(Tyr108Cys) - pathogenic (recessive) g.102487594T>C g.102616863T>C - - MMP20_000015 - PubMed: Gasse 2017 - - Germline - - - - - LOVD
+/. - c.359del r.(?) p.(Asn120Ilefs*3) - pathogenic (recessive) g.102487565del g.102616834del 359delA - MMP20_000016 - PubMed: Gasse 2013 - - Germline - - - - - LOVD
?/. - c.383A>C r.(?) p.(Lys128Thr) - VUS g.102482626T>G - MMP20(NM_004771.4):c.383A>C (p.K128T) - MMP20_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.389C>T r.(?) p.(Thr130Ile) - likely pathogenic g.102482620G>A - MMP20(NM_004771.3):c.389C>T (p.T130I) - MMP20_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.389C>T r.(?) p.(Thr130Ile) - pathogenic (recessive) g.102482620G>A g.102611889G>A - - MMP20_000007 - PubMed: Gasse 2013 - - Germline - - - - - LOVD
+/. - c.389C>T r.(?) p.(Thr130Ile) - pathogenic (recessive) g.102482620G>A g.102611889G>A - - MMP20_000007 - PubMed: Kim 2017 - - Germline - - - - - LOVD
+/. - c.389C>T r.(?) p.(Thr130Ile) - pathogenic (recessive) g.102482620G>A g.102611889G>A - - MMP20_000007 - PubMed: Kim 2020 - - Germline - - - - - LOVD
+/. - c.389C>T r.(?) p.(Thr130Ile) - pathogenic (recessive) g.102482620G>A g.102611889G>A - - MMP20_000007 - PubMed: Gasse 2013 - - Germline - - - - - LOVD
+/. - c.389C>T r.(?) p.(Thr130Ile) - pathogenic (recessive) g.102482620G>A g.102611889G>A - - MMP20_000007 - PubMed: Gasse 2017 - - Germline - - - - - LOVD
+/. - c.389C>T r.(?) p.(Thr130Ile) - pathogenic (recessive) g.102482620G>A g.102611889G>A - - MMP20_000007 - PubMed: Kim 2020 - - Germline - - - - - LOVD
-?/. - c.505A>C r.(?) p.(Ile169Leu) - likely benign g.102482504T>G g.102611773T>G - - MMP20_000004 182 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17099008 Germline - 182/2793 individuals - - - Mohammed Faruq
-?/. - c.505A>C r.(?) p.(Ile169Leu) - likely benign g.102482504T>G g.102611773T>G - - MMP20_000004 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17099008 Germline - 6/2793 individuals - - - Mohammed Faruq
+/. - c.540T>A r.(?) p.(Tyr180*) - pathogenic (recessive) g.102480745A>T g.102610014A>T - - MMP20_000017 - PubMed: Kim 2017 - - Germline - - - - - LOVD
+/. - c.566T>C r.(?) p.(Leu189Pro) - pathogenic (recessive) g.102480719A>G g.102609988A>G - - MMP20_000022 - PubMed: Gasse 2017 - - Germline - - - - - LOVD
+/. - c.611A>G r.(?) p.(His204Arg) - pathogenic (recessive) g.102480674T>C g.102609943T>C - - MMP20_000018 - PubMed: Wang 2013 - - Germline - - - - - LOVD
+/. - c.616G>A r.(?) p.(Asp206Asn) - pathogenic (recessive) g.102480669C>T g.102609938C>T - - MMP20_000019 - PubMed: Kim 2020 - - Germline yes - - - - LOVD
+/. - c.616G>A r.(?) p.(Asp206Asn) - pathogenic (recessive) g.102480669C>T g.102609938C>T - - MMP20_000019 - PubMed: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. - c.625G>C r.(?) p.(Glu209Gln) - pathogenic (recessive) g.102480660C>G g.102609929C>G - - MMP20_000009 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
+/. - c.625G>C r.(?) p.(Glu209Gln) - pathogenic (recessive) g.102480660C>G g.102609929C>G - - MMP20_000009 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
+/. - c.625G>C r.(?) p.(Glu209Gln) - pathogenic (recessive) g.102480660C>G g.102609929C>G - - MMP20_000009 - PubMed: Nikolopoulos 2021 - - Germline yes - - - - LOVD
+/. - c.625G>C r.(?) p.(Glu209Gln) - pathogenic (recessive) g.102480660C>G g.102609929C>G - - MMP20_000009 - PubMed: Nikolopoulos 2021 - - Germline yes - - - - LOVD
+/. - c.678T>A r.(?) p.(His226Gln) - pathogenic (recessive) g.102479801A>T g.102609070A>T g.16250T>A - MMP20_000020 - PubMed: Ozdemir 2005 - - Germline - - - - - LOVD
+/. - c.678T>A r.(?) p.(His226Gln) - pathogenic (recessive) g.102479801A>T g.102609070A>T - - MMP20_000020 - PubMed: Wright 2011 - - Germline - - - - - LOVD
+/. - c.678T>A r.(?) p.(His226Gln) - pathogenic (recessive) g.102479801A>T g.102609070A>T - - MMP20_000020 - PubMed: Kim 2017 - - Germline - - - - - LOVD
+/. - c.710C>A r.(?) p.(Ser237Tyr) - pathogenic (recessive) g.102479769G>T g.102609038G>T - - MMP20_000010 - PubMed: Nikolopoulos 2021 - - Germline yes - - - - LOVD
+/. - c.710C>A r.(?) p.(Ser237Tyr) - pathogenic (recessive) g.102479769G>T g.102609038G>T - - MMP20_000010 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
-?/. - c.711C>T r.(?) p.(Ser237=) - likely benign g.102479768G>A - MMP20(NM_004771.3):c.711C>T (p.S237=) - MMP20_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.809_811+12delinsCCAG r.spl p.? - pathogenic (recessive) g.102479656_102479670delinsCTGG g.102608925_102608939delinsCTGG - - MMP20_000011 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
-/. - c.824T>C r.(?) p.(Val275Ala) - benign g.102477395A>G g.102606664A>G MMP20(NM_004771.4):c.824T>C (p.V275A) - MMP20_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.824T>C r.(?) p.(Val275Ala) - benign g.102477395A>G g.102606664A>G - - MMP20_000002 - PubMed: Gasse 2017 - - Germline - - - - - Johan den Dunnen
-/. - c.824T>C r.(?) p.(Val275Ala) - benign g.102477395A>G g.102606664A>G g.18661T>C - MMP20_000002 - PubMed: Ozdemir 2005 - rs1784423 Germline - - - - - Johan den Dunnen
-/. - c.842C>A r.(?) p.(Thr281Asn) - benign g.102477377G>T g.102606646G>T MMP20(NM_004771.4):c.842C>A (p.T281N) - MMP20_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.842C>A r.(?) p.(Thr281Asn) - benign g.102477377G>T g.102606646G>T N281T - MMP20_000001 - PubMed: Gasse 2017 - - Germline - - - - - Johan den Dunnen
-/. - c.842C>A r.(?) p.(Thr281Asn) - benign g.102477377G>T g.102606646G>T g.18679C>A - MMP20_000001 - PubMed: Ozdemir 2005 - rs1784424 Germline - - - - - Johan den Dunnen
?/. - c.910G>A r.(?) p.(Ala304Thr) - VUS g.102477309C>T - MMP20(NM_004771.3):c.910G>A (p.A304T), MMP20(NM_004771.4):c.910G>A (p.A304T) - MMP20_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.910G>A r.(?) p.(Ala304Thr) - pathogenic (recessive) g.102477309C>T g.102606578C>T - - MMP20_000006 - PubMed: Lee 2010 - - Germline - - - - - LOVD
+/. - c.910G>A r.(?) p.(Ala304Thr) - pathogenic (recessive) g.102477309C>T g.102606578C>T - - MMP20_000006 - PubMed: Gasse 2017 - - Germline - - - - - LOVD
+?/. - c.910G>A r.(?) p.(Ala304Thr) - likely pathogenic g.102477309C>T - MMP20(NM_004771.3):c.910G>A (p.A304T), MMP20(NM_004771.4):c.910G>A (p.A304T) - MMP20_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.910G>A r.(?) p.(Ala304Thr) - VUS g.102477309C>T - MMP20(NM_004771.3):c.910G>A (p.A304T), MMP20(NM_004771.4):c.910G>A (p.A304T) - MMP20_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Nikolopoulos 2021 - - Germline yes - - - - LOVD
+/. - c.954-2A>T r.spl p.(Ile319Phefs*19) - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Gasse 2017 - - Germline - - - - - LOVD
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Kim 2005 - - Germline - - - - - LOVD
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Wright 2011 - - Germline - - - - - LOVD
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Gasse 2017 - - Germline yes - - - - LOVD
+/. - c.954-2A>T r.spl p.? - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Gasse 2017 - - Germline yes - - - - LOVD
+/. - c.954-2A>T r.spl p.(Ile319Phefs*19) - pathogenic (recessive) g.102465490T>A g.102594759T>A - - MMP20_000008 - PubMed: Prasad 2016,PubMed: Gasse 2017 - - Germline - - - - - LOVD
+/. - c.954-2A>T r.spl p.(I319Ffs*19) - pathogenic (recessive) g.102465490T>A - - - MMP20_000008 - PubMed: Prasad 2016 - - Germline - - - - - LOVD
+/. - c.1054G>A r.(?) p.(Glu352Lys) - pathogenic (recessive) g.102465388C>T g.102594657C>T - - MMP20_000023 - PubMed: Seymen 2015 - - Germline - - - - - LOVD
-/. - c.1091-125G>T r.(?) p.(=) - benign g.102464451C>A g.102593720C>A g.31605G>A - MMP20_000021 - PubMed: Ozdemir 2005 - rs1784440 Germline - - - - - Johan den Dunnen
+/. - c.1122A>C r.(?) p.(Gln374His) - pathogenic (recessive) g.102464295T>G g.102593564T>G - - MMP20_000012 - PubMed: Nikolopoulos 2021 - - Germline - - - - - LOVD
?/. - c.1313G>C r.(?) p.(Gly438Ala) - VUS g.102449808C>G - MMP20(NM_004771.3):c.1313G>C (p.G438A) - MMP20_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.