Full data view for gene MMP2

Information The variants shown are described using the NM_004530.4 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.-61G>C r.(?) p.(=) Unknown - benign g.55513331G>C g.55479419G>C - - MMP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262G>A r.(?) p.(Asp88Asn) Unknown - VUS g.55516929G>A - MMP2(NM_004530.5):c.262G>A (p.D88N) - MMP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265del r.(?) p.(Asp90Thrfs*65) Parent #1 - pathogenic g.55516932del g.55483020del - - MMP2_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727275 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.496G>A r.(?) p.(Glu166Lys) Unknown - likely benign g.55518043G>A - MMP2(NM_001127891.1):c.346G>A (p.(Glu116Lys)) - MMP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.538G>A r.(?) p.(Asp180Asn) Both (homozygous) - pathogenic (recessive) g.55519219G>A g.55485307G>A - - MMP2_000019 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_49 PubMed: Makrythanasis 2014 family, 2 affected - yes Egypt - - - - - 2 Johan den Dunnen
+/. - c.538G>A r.(?) p.(Asp180Asn) Both (homozygous) - pathogenic (recessive) g.55519219G>A g.55485307G>A NM_004530.4:c.538G>A:p.(Asp180Asn) - MMP2_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG1052 , 14DG1075 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - 2 LOVD
-/. - c.678G>C r.(?) p.(Gly226=) Unknown - benign g.55519535G>C g.55485623G>C - - MMP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? ? c.691G>T r.(?) p.Glu231* Both (homozygous) - likely pathogenic g.55519548G>T g.55485636G>T - - MMP2_000001 - - - - Unknown - - - - - DNA SEQ - - MONA - - - F yes Brazil - - - - - 1 Andreas Zankl
?/. - c.755G>A r.(?) p.(Arg252His) Unknown - VUS g.55519612G>A - MMP2(NM_001127891.1):c.605G>A (p.(Arg202His)) - MMP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.832+12C>T r.(=) p.(=) Unknown - benign g.55519701C>T g.55485789C>T - - MMP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1099G>A r.(?) p.(Gly367Ser) Unknown - VUS g.55523655G>A - MMP2(NM_001127891.1):c.949G>A (p.(Gly317Ser)) - MMP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1149T>C r.(?) p.(=) Unknown - VUS g.55523705T>C g.55489793T>C - - MMP2_000002 - - - - Germline ? 1/2608 cases - - - DNA TaqMan blood or saliva - CLP - - non Hispanic white and Hispanic families ? no United States - - - - - 1 Brett Chiquet
-/. - c.1149T>C r.(?) p.(Asp383=) Unknown - benign g.55523705T>C g.55489793T>C MMP2(NM_004530.6):c.1149T>C (p.D383=) - MMP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1149T>C r.(?) p.(Asp383=) Unknown - benign g.55523705T>C g.55489793T>C MMP2(NM_004530.6):c.1149T>C (p.D383=) - MMP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1227G>A r.(?) p.(Met409Ile) Unknown - likely benign g.55525759G>A g.55491847G>A MMP2(NM_001127891.1):c.1077G>A (p.(Met359Ile)) - MMP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1336+2T>G r.spl p.? Both (homozygous) ACMG likely pathogenic g.55525870T>G g.55491958T>G - - MMP2_000027 - - - rs746668134 Germline yes - - - - DNA SEQ-NG-I Blood - MONA - - - - yes Pakistan - - - - - 1 Sadaf Naz
-?/. - c.1340C>T r.(?) p.(Ala447Val) Unknown - likely benign g.55527073C>T g.55493161C>T MMP2(NM_001127891.1):c.1190C>T (p.(Ala397Val)) - MMP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1380G>A r.(?) p.(Thr460=) Unknown - benign g.55527113G>A g.55493201G>A - - MMP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499G>A r.(?) p.(Arg500His) Unknown - likely benign g.55530864G>A g.55496952G>A MMP2(NM_001127891.1):c.1349G>A (p.(Arg450His)) - MMP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548C>A r.(?) p.(Leu516=) Unknown - likely benign g.55530913C>A - MMP2(NM_004530.5):c.1548C>A (p.L516=) - MMP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769+1876G>A r.(?) p.(=) Unknown - VUS g.55534236G>A g.55500324G>A - - MMP2_000003 - - - - Germline ? 1/2608 cases - - - DNA TaqMan blood or saliva - CLP - - non Hispanic white and Hispanic families ? no United States - - - - - 1 Brett Chiquet
-/. - c.1770-4A>G r.spl? p.? Unknown - benign g.55536687A>G g.55502775A>G - - MMP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1802G>T r.(?) p.(Gly601Val) Unknown - likely benign g.55536723G>T - MMP2(NM_001127891.1):c.1652G>T (p.(Gly551Val)) - MMP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1806C>T r.(?) p.(Phe602=) Unknown - benign g.55536727C>T g.55502815C>T MMP2(NM_004530.6):c.1806C>T (p.F602=) - MMP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1806C>T r.(?) p.(Phe602=) Unknown - benign g.55536727C>T g.55502815C>T MMP2(NM_004530.6):c.1806C>T (p.F602=) - MMP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1827C>G r.(?) p.(Ala609=) Unknown - likely benign g.55536748C>G - MMP2(NM_004530.5):c.1827C>G (p.A609=) - MMP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1858G>A r.(?) p.(Val620Ile) Unknown - likely benign g.55536779G>A - MMP2(NM_004530.4):c.1858G>A (p.(Val620Ile)) - MMP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*159T>C r.(=) p.(=) Parent #1 - likely benign g.55539513T>C g.55505601T>C - - MMP2_000018 225 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17860019 Germline - 225/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 225 Mohammed Faruq
-?/. - c.*159T>C r.(=) p.(=) Both (homozygous) - likely benign g.55539513T>C g.55505601T>C - - MMP2_000018 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17860019 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.*260A>C r.(?) p.(=) Unknown - VUS g.55539614A>C g.55505702A>C - - MMP2_000004 - - - - Germline ? 1/2608 cases - - - DNA TaqMan blood or saliva - CLP - - non Hispanic white and Hispanic families ? no United States - - - - - 1 Brett Chiquet
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