Full data view for gene MMP9

Information The variants shown are described using the NM_004994.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.? r.(?) p.(Arg322Trp) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K1 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.? r.(?) p.(Arg267Glyfs*71) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K102 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.? r.(?) p.(Ser335*) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K132 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.? r.(?) p.(Gly605Alafs*9) Unknown - VUS g.? - - - DNMT3B_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K161 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+/. - c.2T>A r.(?) p.(Met1?) Unknown - pathogenic g.44637567T>A - MMP9(NM_004994.2):c.2T>A (p.M1?, p.(Met1?)) - MMP9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>A r.(?) p.(Met1?) Unknown - VUS g.44637567T>A - MMP9(NM_004994.2):c.2T>A (p.M1?, p.(Met1?)) - MMP9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>A r.(?) p.(Met1?) Unknown - likely pathogenic g.44637567T>A - MMP9(NM_004994.2):c.2T>A (p.M1?, p.(Met1?)) - MMP9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28G>A r.(?) p.(Val10Met) Unknown - likely benign g.44637593G>A g.46008954G>A MMP9(NM_004994.2):c.28G>A (p.V10M) - MMP9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T r.(?) p.(Ala20Val) Unknown - likely benign g.44637624C>T g.46008985C>T MMP9(NM_004994.2):c.59C>T (p.(Ala20Val)) - MMP9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113A>G r.(?) p.(Asn38Ser) Unknown - likely benign g.44637678A>G g.46009039A>G MMP9(NM_004994.2):c.113A>G (p.(Asn38Ser)) - MMP9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114T>A r.(?) p.(Asn38Lys) Unknown - likely benign g.44637679T>A - MMP9(NM_004994.2):c.114T>A (p.(Asn38Lys)) - MMP9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129G>T r.(?) p.(Gln43His) Unknown - likely benign g.44637694G>T - MMP9(NM_004994.2):c.129G>T (p.(Gln43His)) - MMP9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>T r.(?) p.(Thr155Ile) Parent #1 - VUS g.44639214C>T g.46010575C>T - - MMP9_000014 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143024943 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.535T>C r.(?) p.(Tyr179His) Unknown - VUS g.44639575T>C - MMP9(NM_004994.3):c.535T>C (p.(Tyr179His)) - MMP9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.559C>T r.(?) p.(Leu187Phe) Unknown - likely benign g.44639599C>T - MMP9(NM_004994.2):c.559C>T (p.(Leu187Phe)) - MMP9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.638G>A r.(?) p.(Gly213Asp) Unknown - likely benign g.44639678G>A g.46011039G>A MMP9(NM_004994.2):c.638G>A (p.(Gly213Asp)) - MMP9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.650-7C>T r.(=) p.(=) Unknown - likely benign g.44639775C>T - MMP9(NM_004994.2):c.650-7C>T (p.(=)) - MMP9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700T>G r.(?) p.(Phe234Val) Unknown - VUS g.44639832T>G - - - MMP9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.773C>T r.(?) p.(Thr258Ile) Parent #1 - VUS g.44639905C>T g.46011266C>T - - MMP9_000015 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41529445 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.773C>T r.(?) p.(Thr258Ile) Unknown - VUS g.44639905C>T - MMP9(NM_004994.2):c.773C>T (p.(Thr258Ile)) - MMP9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823+6_823+9del r.(=) p.(=) Unknown - VUS g.44639961_44639964del - MMP9(NM_004994.2):c.822_823+2del (p.?) - MMP9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.836A>G r.(?) p.(Gln279Arg) Unknown - VUS g.44640225A>G g.46011586A>G - - MMP9_000007 for details see the Uveogene database PubMed: Hamzaoui 2015 - rs17576 Germline - 120/480 cases - - - DNA arraySNP Blood - Behcet - PubMed: Hamzaoui 2015 Turkish cohort F;M - Turkey Turkish - - for details see the Uveogene database - 120 Peizeng Yang
-?/. - c.886G>A r.(?) p.(Gly296Ser) Unknown - likely benign g.44640275G>A - MMP9(NM_004994.2):c.886G>A (p.(Gly296Ser)) - MMP9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.997+5C>T r.spl? p.? Unknown - benign g.44640391C>T g.46011752C>T MMP9(NM_004994.2):c.997+5C>T (p.?) - MMP9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096del r.(?) p.(Arg366Alafs*44) Unknown - VUS g.44640874del - MMP9(NM_004994.3):c.1096del (p.(Arg366Alafs*44)) - MMP9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1116_1138dup r.(?) p.(Asp380Glyfs*38) Unknown - likely pathogenic g.44640894_44640916dup - MMP9(NM_004994.3):c.1116_1138dup (p.(Asp380Glyfs*38)) - MMP9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123A>C r.(?) p.(Thr375Pro) Unknown - VUS g.44640901A>C - MMP9(NM_004994.3):c.1123A>C (p.(Thr375Pro)) - MMP9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1174+7G>A r.(=) p.(=) Unknown - benign g.44640959G>A g.46012320G>A MMP9(NM_004994.3):c.1174+7G>A - MMP9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1260C>A r.(?) p.(Tyr420Ter) Unknown - VUS g.44641151C>A g.46012512C>A MMP9(NM_004994.2):c.1260C>A (p.Y420*) - MMP9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1331-7T>C r.(=) p.(=) Unknown - VUS g.44641887T>C - MMP9(NM_004994.2):c.1331-7T>C (p.?) - MMP9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1508C>G r.(?) p.(Thr503Arg) Unknown - likely benign g.44642071C>G - MMP9(NM_004994.2):c.1508C>G (p.(Thr503Arg)) - MMP9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1690C>T r.(?) p.(Pro564Ser) Unknown - VUS g.44642375C>T - MMP9(NM_004994.3):c.1690C>T (p.(Pro564Ser)) - MMP9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1721G>C r.(?) p.(Arg574Pro) Unknown - benign g.44642406G>C g.46013767G>C MMP9(NM_004994.3):c.1721G>C (p.R574P) - MMP9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1721G>C r.(?) p.(Arg574Pro) Unknown - VUS g.44642406G>C g.46013767G>C - - MMP9_000004 for details see the Uveogene database PubMed: Hamzaoui 2015 - rs2250889 Germline - 120/480 cases - - - DNA arraySNP Blood - uveitis - PubMed: Hamzaoui 2015 Tunisian cohort F;M - Tunisia Tunisian - - for details see the Uveogene database - 120 Peizeng Yang
?/. - c.1739T>G r.(?) p.(Phe580Cys) Unknown - VUS g.44642424T>G - MMP9(NM_004994.3):c.1739T>G (p.(Phe580Cys)) - MMP9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1764G>A r.(?) p.(Trp588*) Paternal (confirmed) - pathogenic (recessive) g.44642776G>A g.46014137G>A - - MMP9_000017 - Case report currently under resubmission, Eur J Med Genet - - Germline yes - - - - DNA SEQ-NG-I - - MANDP2 - - Case report currently under resubmission, Eur J Med Genet M yes Spain - - - - - 1 Karen E. Heath
?/. - c.1764G>A r.(?) p.(Trp588*) Unknown - VUS g.44642776G>A - MMP9(NM_004994.2):c.1764G>A (p.(Trp588*)) - MMP9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1821A>C r.(?) p.(Gly607=) Unknown - benign g.44642833A>C g.46014194A>C MMP9(NM_004994.3):c.1821A>C (p.G607=) - MMP9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1843G>T r.(?) p.(Gly615Trp) Unknown - VUS g.44642855G>T - MMP9(NM_004994.3):c.1843G>T (p.(Gly615Trp)) - MMP9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1885G>A r.(?) p.(Gly629Arg) Unknown - likely benign g.44642897G>A - MMP9(NM_004994.2):c.1885G>A (p.(Gly629Arg)) - MMP9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1927del r.(?) p.(Asp643Ilefs*40) Unknown - VUS g.44643035del - MMP9(NM_004994.2):c.1927del (p.(Asp643Ilefs*40)) - MMP9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2003G>A r.(?) p.(Arg668Gln) Unknown - VUS g.44643111G>A g.46014472G>A - - MMP9_000008 for details see the Uveogene database PubMed: Hamzaoui 2015 - rs17577 Germline - 96/480 cases - - - DNA arraySNP Blood - Behcet - PubMed: Hamzaoui 2015 Turkish cohort F;M - Turkey Turkish - - for details see the Uveogene database - 96 Peizeng Yang
-/. - c.*3C>T r.(=) p.(=) Unknown - benign g.44645010C>T g.46016371C>T MMP9(NM_004994.3):c.*3C>T - MMP9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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