Full data view for gene MMP21

Information The variants shown are described using the NM_147191.1 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
Legend   How to query  

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.-7916545_*4304420dup - - Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. _1_4 c.-2429_851del r.0? p.0? Maternal (confirmed) - likely pathogenic g.127460915_127466819del g.125772346_125778250del - - MMP21_000013 - - - - Germline yes - - - - DNA SEQ-NG-I blood - CHD - - - M no (United States) Hispanic ? - - - 1 Patrice Bouvagnet
+?/. 1 c.1A>G r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.127464390T>C g.125775821T>C - - MMP21_000002 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG - - CHD - - registry CARREG at Necker Hospital, Paris, France, patient RECH003865 M yes - - >05y - yes - 1 Patrice Bouvagnet
+?/. 1 c.1A>G r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.127464390T>C g.125775821T>C - - MMP21_000002 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG - - CHD - - Heterotaxy not linked to any known gene yet M yes (France) North Africa >05y - yes - 1 Patrice Bouvagnet
+?/. 1 c.91C>T r.(?) p.(Arg31Trp) Paternal (inferred) - likely pathogenic g.127464300G>A g.125775731G>A - - MMP21_000005 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG Blood - CHD - - - M no France carribean island 13y - yes - 1 Patrice Bouvagnet
-?/. - c.139A>G r.(?) p.(Ile47Val) Unknown - likely benign g.127464252T>C g.125775683T>C MMP21(NM_147191.1):c.139A>G (p.(Ile47Val)) - MMP21_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161A>G r.(?) p.(Gln54Arg) Unknown - VUS g.127464230T>C - MMP21(NM_147191.1):c.161A>G (p.Q54R) - MMP21_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>T r.(?) p.(Arg55Trp) Unknown - likely benign g.127462934G>A g.125774365G>A MMP21(NM_147191.1):c.163C>T (p.(Arg55Trp)) - MMP21_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.186del r.(186del) p.(Trp62Cysfs*48) Parent #1 - pathogenic g.127462912del g.125774343del - - MMP21_000034 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline ? - - - - DNA SEQ, SEQ-NG-I Liver Panel of 478 genes CHD, HTX Pt7435 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - 1 Patrice Bouvagnet
-?/. - c.200C>A r.(?) p.(Ala67Glu) Unknown - likely benign g.127462897G>T - MMP21(NM_147191.1):c.200C>A (p.A67E) - MMP21_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217C>T r.(?) p.(Pro73Ser) Unknown - likely benign g.127462880G>A - MMP21(NM_147191.1):c.217C>T (p.P73S) - MMP21_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242A>G r.(?) p.(Lys81Arg) Unknown - VUS g.127462855T>C g.125774286T>C MMP21(NM_147191.1):c.242A>G (p.(Lys81Arg)) - MMP21_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264G>A r.(?) p.(Ala88=) Unknown - benign g.127462833C>T g.125774264C>T - - MMP21_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.290C>T r.(?) p.(Ala97Val) Unknown - VUS g.127462807G>A g.125774238G>A MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val)) - MMP21_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290C>T r.(?) p.(Ala97Val) Unknown - likely benign g.127462807G>A g.125774238G>A MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val)) - MMP21_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290C>T r.(?) p.(Ala97Val) Unknown - likely benign g.127462807G>A - MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val)) - MMP21_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290C>T r.(?) p.(Ala97Val) Unknown - likely benign g.127462807G>A - MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val)) - MMP21_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296C>G r.(?) p.(Pro99Arg) Unknown - VUS g.127462801G>C - MMP21(NM_147191.1):c.296C>G (p.(Pro99Arg)) - MMP21_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(Ala100=) Unknown - likely benign g.127462797G>A g.125774228G>A MMP21(NM_147191.1):c.300C>T (p.A100=) - MMP21_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.308_309del r.(?) p.(Glu103Alafs*154) Both (homozygous) - likely pathogenic g.127462789_127462790del g.125774220_125774221del - - MMP21_000006 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG Blood - CHD - - Heterotaxy not linked to any known heterotaxy locus yet M yes Turkey Turkish ? - yes - 1 Patrice Bouvagnet
?/. - c.329C>T r.(?) p.(Ala110Val) Unknown - VUS g.127462768G>A g.125774199G>A MMP21(NM_147191.1):c.329C>T (p.(Ala110Val)) - MMP21_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.365del r.(?) p.(Met122Serfs*55) Paternal (confirmed) - likely pathogenic g.127462732del g.125774163del - - MMP21_000010 - - - - Germline yes - - - - DNA SEQ-NG-I blood - CHD - - - M no (United States) Hispanic ? - - - 1 Patrice Bouvagnet
+/. - c.365del r.(?) p.(Met122Serfs*55) Unknown - pathogenic g.127462732del - MMP21(NM_147191.1):c.365delT (p.(Met122fs)), MMP21(NM_147191.1):c.365delT (p.M122Sfs*55) - MMP21_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365del r.(?) p.(Met122Serfs*55) Unknown - VUS g.127462732del - MMP21(NM_147191.1):c.365delT (p.(Met122fs)), MMP21(NM_147191.1):c.365delT (p.M122Sfs*55) - MMP21_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.387C>A r.(?) p.(Ala129=) Unknown - benign g.127462710G>T g.125774141G>T MMP21(NM_147191.1):c.387C>A (p.A129=) - MMP21_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395C>A r.(?) p.(Ser132Ter) Unknown - pathogenic g.127462702G>T - MMP21(NM_147191.1):c.395C>A (p.S132*) - MMP21_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.438G>C r.(?) p.(Pro146=) Unknown - likely benign g.127462659C>G g.125774090C>G MMP21(NM_147191.1):c.438G>C (p.P146=) - MMP21_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451T>C r.(?) p.(Ser151Pro) Unknown - VUS g.127462646A>G g.125774077A>G MMP21(NM_147191.1):c.451T>C (p.(Ser151Pro)) - MMP21_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.486C>T r.(?) p.(Tyr162=) Unknown - likely benign g.127462611G>A - MMP21(NM_147191.1):c.486C>T (p.(Tyr162=)) - MMP21_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.572T>C r.(?) p.(Val191Ala) Unknown - benign g.127462525A>G - MMP21(NM_147191.1):c.572T>C (p.V191A) - MMP21_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616A>G r.(?) p.(Ser206Gly) Unknown - VUS g.127462481T>C - MMP21(NM_147191.1):c.616A>G (p.(Ser206Gly)) - MMP21_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.643G>A r.(?) p.(Glu215Lys) Unknown - likely pathogenic g.127462454C>T g.125773885C>T - - MMP21_000004 - - - rs145789868 Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG Blood - CHD - - - M no France carribean island 13y - yes - 1 Patrice Bouvagnet
?/. - c.643G>A r.(?) p.(Glu215Lys) Unknown - VUS g.127462454C>T g.125773885C>T - - MMP21_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.643G>A r.(643g>a) p.Glu215Lys) Unknown - pathogenic g.127462454C>T g.125773885C>T - - MMP21_000004 - PubMed: Liu 2020, Journal: Liu 2020 - rs145789868 Germline ? 1/80 patients - - - DNA SEQ, SEQ-NG-I Liver Panel of 478 genes CHD, HTX Pt7435 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - 1 Patrice Bouvagnet
+/. - c.677T>C r.(?) p.(Ile226Thr) Paternal (confirmed) - pathogenic g.127462420A>G g.125773851A>G - - MMP21_000003 tested on CRISP/Cas9 mouse embryos: pathogenic - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG-I Blood - CHD - - This patient has heterotaxy different from the ones in the diseases lists (another locus) The neonate died at 1 day of life F no France European 00y00m01d - y - 1 Patrice Bouvagnet
?/. - c.685G>C r.(?) p.(Gly229Arg) Unknown - VUS g.127462412C>G - MMP21(NM_147191.1):c.685G>C (p.(Gly229Arg)) - MMP21_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697+10C>G r.(=) p.(=) Unknown - likely benign g.127462390G>C - MMP21(NM_147191.1):c.697+10C>G - MMP21_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.697+10C>G r.(=) p.(=) Unknown - benign g.127462390G>C - MMP21(NM_147191.1):c.697+10C>G - MMP21_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698-8dup r.(=) p.(=) Unknown - likely benign g.127461331dup - MMP21(NM_147191.1):c.698-8dup - MMP21_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.718C>T r.(?) p.(Arg240Trp) Unknown - VUS g.127461299G>A - MMP21(NM_147191.1):c.718C>T (p.R240W) - MMP21_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.726C>T r.(?) p.(Phe242=) Unknown - likely benign g.127461291G>A - MMP21(NM_147191.1):c.726C>T (p.F242=) - MMP21_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>T r.(?) p.(His251=) Unknown - likely benign g.127461264G>A - MMP21(NM_147191.1):c.753C>T (p.H251=) - MMP21_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.790G>A r.(?) p.(Glu264Lys) Unknown - VUS g.127461227C>T g.125772658C>T - - MMP21_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832C>G r.(?) p.(Leu278Val) Unknown - VUS g.127461185G>C - MMP21(NM_147191.1):c.832C>G (p.(Leu278Val)) - MMP21_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.838-24C>A r.(=) p.(=) Unknown - benign g.127460952G>T g.125772383G>T - - MMP21_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.861T>G r.(?) p.(His287Gln) Unknown - likely pathogenic g.127460905A>C g.125772336A>C MMP21(NM_147191.1):c.861T>G (p.H287Q) - MMP21_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928C>G r.(?) p.(Pro310Ala) Unknown - VUS g.127460838G>C - MMP21(NM_147191.1):c.928C>G (p.P310A) - MMP21_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932C>T r.(?) p.(Ala311Val) Unknown - likely benign g.127460834G>A g.125772265G>A - - MMP21_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.961G>C r.(?) p.(Ala321Pro) Both (homozygous) - likely pathogenic g.127460805C>G g.125772236C>G - - MMP21_000007 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG Blood - CHD - - - M yes Turkey Turkish ? - yes - 1 Patrice Bouvagnet
-?/. - c.975G>A r.(?) p.(Leu325=) Unknown - likely benign g.127460791C>T - MMP21(NM_147191.1):c.975G>A (p.(Leu325=)) - MMP21_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007C>T r.(?) p.(Ala336Val) Unknown - likely benign g.127459133G>A - MMP21(NM_147191.1):c.1007C>T (p.A336V) - MMP21_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Glu349Gly) Unknown - likely benign g.127459094T>C g.125770525T>C MMP21(NM_147191.1):c.1046A>G (p.E349G, p.(Glu349Gly)) - MMP21_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Glu349Gly) Unknown - likely benign g.127459094T>C g.125770525T>C MMP21(NM_147191.1):c.1046A>G (p.E349G, p.(Glu349Gly)) - MMP21_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Glu349Gly) Unknown - likely benign g.127459094T>C - MMP21(NM_147191.1):c.1046A>G (p.E349G, p.(Glu349Gly)) - MMP21_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1078C>T r.(?) p.(Arg360Cys) Both (homozygous) - likely pathogenic g.127459062G>A g.125770493G>A - - MMP21_000008 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG Blood - CHD - - heterotaxy not linked to any known heterotaxy locus yet F yes Turkey Turkish ? - - - 1 Patrice Bouvagnet
?/. - c.1078C>T r.(?) p.(Arg360Cys) Unknown - VUS g.127459062G>A - MMP21(NM_147191.1):c.1078C>T (p.(Arg360Cys)) - MMP21_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1124G>A r.(?) p.(Arg375His) Both (homozygous) - likely pathogenic g.127459016C>T g.125770447C>T - - MMP21_000001 - - - - Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG - - CHD - - - M yes Algeria North Africa >15y - yes - 1 Patrice Bouvagnet
?/. - c.1163G>C r.(?) p.(Gly388Ala) Unknown - VUS g.127458977C>G g.125770408C>G MMP21(NM_147191.1):c.1163G>C (p.G388A) - MMP21_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200C>T r.(?) p.(Ile400=) Unknown - likely benign g.127458940G>A - MMP21(NM_147191.1):c.1200C>T (p.I400=) - MMP21_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1203G>A r.(?) p.(Trp401*) Maternal (confirmed) - likely pathogenic g.127458937C>T g.125770368C>T - - MMP21_000009 - - - rs137955225 Germline yes 1/264 patients - - - DNA SEQ, SEQ-NG-I Blood - CHD - - This patient has heterotaxy different from the ones in the diseases lists (another locus) The neonate died at 1 day of life F no France European 00y00m01d - y - 1 Patrice Bouvagnet
+/. - c.1203G>A r.(?) p.(Trp401Ter) Unknown - pathogenic g.127458937C>T g.125770368C>T MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*) - MMP21_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1203G>A r.(?) p.(Trp401Ter) Unknown - VUS g.127458937C>T - MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*) - MMP21_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1203G>A r.(?) p.(Trp401Ter) Unknown - likely pathogenic g.127458937C>T - MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*) - MMP21_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1203G>A r.(?) p.(Trp401Ter) Unknown - likely pathogenic g.127458937C>T - MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*) - MMP21_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1222C>G r.(?) p.(Arg408Gly) Maternal (confirmed) - likely pathogenic g.127458918G>C g.125770349G>C - - MMP21_000011 - - - rs150320323 Germline yes 1/264 patients - - - DNA SEQ-NG Blood - CHD - - - F no Germany European >33y - - - 264 Patrice Bouvagnet
?/. - c.1271A>T r.(?) p.(Asp424Val) Unknown - VUS g.127456240T>A - MMP21(NM_147191.1):c.1271A>T (p.(Asp424Val)) - C10orf137_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1361C>T r.(?) p.(Ala454Val) Unknown - benign g.127456150G>A g.125767581G>A MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val)) - C10orf137_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1361C>T r.(?) p.(Ala454Val) Unknown - likely benign g.127456150G>A - MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val)) - C10orf137_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1372C>T r.(?) p.(Arg458Ter) Unknown - likely pathogenic g.127456139G>A g.125767570G>A MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*) - C10orf137_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1372C>T r.(?) p.(Arg458Ter) Unknown - pathogenic g.127456139G>A g.125767570G>A MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*) - C10orf137_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1372C>T r.(?) p.(Arg458Ter) Unknown - pathogenic g.127456139G>A - MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*) - C10orf137_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1381A>G r.(?) p.(Lys461Glu) Unknown - benign g.127456130T>C - MMP21(NM_147191.1):c.1381A>G (p.K461E) - MMP21_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1544A>G r.(?) p.(Tyr515Cys) Unknown - VUS g.127455397T>C - MMP21(NM_147191.1):c.1544A>G (p.Y515C) - C10orf137_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.1585_1588dup r.(?) p.(Val530Glyfs*3) Paternal (confirmed) - likely pathogenic g.127455355_127455358dup g.125766786_125766789dup - - MMP21_000012 - - - - Germline yes - - - - DNA SEQ-NG Blood - CHD - - - F no Germany European >33y - - - 264 Patrice Bouvagnet
Legend   How to query  


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