| NM_005911.6(MAT2A):c.698C>T (p.Ala233Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377190]|Familial thoracic aortic aneurysm and aortic dissection [RCV000551179]|not specified [RCV004586795] |
Chr2:85542303 [GRCh38]
Chr2:85769426 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.-18C>T |
single nucleotide variant |
not provided [RCV004711213]|not specified [RCV000602683] |
Chr2:85539270 [GRCh38]
Chr2:85766393 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.438T>C (p.Thr146=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330982]|Familial thoracic aortic aneurysm and aortic dissection [RCV000542868]|not provided [RCV000606640]|not specified [RCV003994016] |
Chr2:85541861 [GRCh38]
Chr2:85768984 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.-7C>T |
single nucleotide variant |
not specified [RCV000602903] |
Chr2:85539281 [GRCh38]
Chr2:85766404 [GRCh37]
Chr2:2p11.2 |
likely benign |
| GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 |
copy number gain |
See cases [RCV000134786] |
Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2 |
pathogenic |
| GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2 |
uncertain significance |
| GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 |
copy number loss |
See cases [RCV000141948] |
Chr2:85014686..88826619 [GRCh38]
Chr2:85241809..89126132 [GRCh37]
Chr2:85095320..88907247 [NCBI36]
Chr2:2p11.2 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207275] |
Chr2:85598271..85843453 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1059C>T (p.Phe353=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404655]|Familial thoracic aortic aneurysm and aortic dissection [RCV002063973]|not provided [RCV000967016] |
Chr2:85543008 [GRCh38]
Chr2:85770131 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*4726A>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000278791] |
Chr2:85545208 [GRCh38]
Chr2:85772331 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_005911.6(MAT2A):c.1031A>C (p.Glu344Ala) |
single nucleotide variant |
not provided [RCV000256295] |
Chr2:85542980 [GRCh38]
Chr2:85770103 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4895T>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000337471] |
Chr2:85545039 [GRCh38]
Chr2:85772162 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4996del |
deletion |
Vitamin K-Dependent Clotting Factors [RCV000386657] |
Chr2:85544938 [GRCh38]
Chr2:85772061 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.674A>G (p.Lys225Arg) |
single nucleotide variant |
not provided [RCV000489265] |
Chr2:85542279 [GRCh38]
Chr2:85769402 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000821.7(GGCX):c.*4995dup |
duplication |
Vitamin K-Dependent Clotting Factors [RCV000294186] |
Chr2:85544938..85544939 [GRCh38]
Chr2:85772061..85772062 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.666A>G (p.Leu222=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368044]|Familial thoracic aortic aneurysm and aortic dissection [RCV000654817]|not provided [RCV001697412] |
Chr2:85542271 [GRCh38]
Chr2:85769394 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*4744C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000375682] |
Chr2:85545190 [GRCh38]
Chr2:85772313 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.663C>T (p.Ala221=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368043]|Familial thoracic aortic aneurysm and aortic dissection [RCV001447968]|not provided [RCV000926984] |
Chr2:85542268 [GRCh38]
Chr2:85769391 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+11T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002064166]|not specified [RCV000602900] |
Chr2:85542758 [GRCh38]
Chr2:85769881 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.501A>G (p.Leu167=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341481]|Familial thoracic aortic aneurysm and aortic dissection [RCV000557547]|not provided [RCV001722524]|not specified [RCV003323616] |
Chr2:85541924 [GRCh38]
Chr2:85769047 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.813T>C (p.Tyr271=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420538]|Familial thoracic aortic aneurysm and aortic dissection [RCV000535085]|not provided [RCV004708958]|not specified [RCV000606896] |
Chr2:85542609 [GRCh38]
Chr2:85769732 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.-35C>G |
single nucleotide variant |
not provided [RCV001721475] |
Chr2:85539253 [GRCh38]
Chr2:85766376 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.831T>C (p.His277=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429438]|Familial thoracic aortic aneurysm and aortic dissection [RCV000550402]|not provided [RCV001698314]|not specified [RCV004782380] |
Chr2:85542627 [GRCh38]
Chr2:85769750 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.792C>G (p.Arg264=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418266]|Familial thoracic aortic aneurysm and aortic dissection [RCV001522537]|not provided [RCV004708845]|not specified [RCV000418849] |
Chr2:85542588 [GRCh38]
Chr2:85769711 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.1110T>A (p.Ile370=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436304]|Familial thoracic aortic aneurysm and aortic dissection [RCV000654827]|not provided [RCV001704322] |
Chr2:85543694 [GRCh38]
Chr2:85770817 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+7A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001431364]|not specified [RCV000432756] |
Chr2:85542754 [GRCh38]
Chr2:85769877 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.-48C>T |
single nucleotide variant |
not specified [RCV000429463] |
Chr2:85539240 [GRCh38]
Chr2:85766363 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.952-20C>G |
single nucleotide variant |
not specified [RCV000436445] |
Chr2:85542881 [GRCh38]
Chr2:85770004 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.318G>T (p.Val106=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323654]|Familial thoracic aortic aneurysm and aortic dissection [RCV000532687]|not provided [RCV001698360]|not specified [RCV003323541] |
Chr2:85541658 [GRCh38]
Chr2:85768781 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.-15C>T |
single nucleotide variant |
not specified [RCV000443902] |
Chr2:85539273 [GRCh38]
Chr2:85766396 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.406-19G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002059760]|not provided [RCV004708876]|not specified [RCV000436861] |
Chr2:85541810 [GRCh38]
Chr2:85768933 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.477G>A (p.Lys159=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328994]|Familial thoracic aortic aneurysm and aortic dissection [RCV000654831]|not specified [RCV000437102] |
Chr2:85541900 [GRCh38]
Chr2:85769023 [GRCh37]
Chr2:2p11.2 |
likely benign |
| GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 |
copy number gain |
See cases [RCV000448688] |
Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 |
copy number loss |
See cases [RCV000510763] |
Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_005911.6(MAT2A):c.952-19G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002062814]|not specified [RCV000605630] |
Chr2:85542882 [GRCh38]
Chr2:85770005 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.951+13TA[2] |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002065229]|not specified [RCV000602909] |
Chr2:85542760..85542761 [GRCh38]
Chr2:85769883..85769884 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.66A>C (p.Ser22=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301345]|Familial thoracic aortic aneurysm and aortic dissection [RCV003777160] |
Chr2:85539353 [GRCh38]
Chr2:85766476 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.39C>G (p.Ile13Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301346] |
Chr2:85539326 [GRCh38]
Chr2:85766449 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.293-15G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002062937]|not specified [RCV000615020] |
Chr2:85541618 [GRCh38]
Chr2:85768741 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.952-20C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002062920]|not specified [RCV000612592] |
Chr2:85542881 [GRCh38]
Chr2:85770004 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.843C>T (p.Ala281=) |
single nucleotide variant |
MAT2A-related disorder [RCV003905592]|not specified [RCV000607242] |
Chr2:85542639 [GRCh38]
Chr2:85769762 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.6C>T (p.Asn2=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000556765] |
Chr2:85539293 [GRCh38]
Chr2:85766416 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.-22A>G |
single nucleotide variant |
not specified [RCV000616848] |
Chr2:85539266 [GRCh38]
Chr2:85766389 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.952-3dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002529634]|not provided [RCV001697869] |
Chr2:85542894..85542895 [GRCh38]
Chr2:85770017..85770018 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.1027A>G (p.Arg343Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386119]|Familial thoracic aortic aneurysm and aortic dissection [RCV000654813]|MAT2A-related disorder [RCV004754520] |
Chr2:85542976 [GRCh38]
Chr2:85770099 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.406-4_406-3dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000654830] |
Chr2:85541823..85541824 [GRCh38]
Chr2:85768946..85768947 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.-35C>T |
single nucleotide variant |
not specified [RCV000614375] |
Chr2:85539253 [GRCh38]
Chr2:85766376 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.840T>C (p.Gly280=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001493126]|not provided [RCV000936828] |
Chr2:85542636 [GRCh38]
Chr2:85769759 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.108A>G (p.Gln36=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448802]|Familial thoracic aortic aneurysm and aortic dissection [RCV000558892]|not provided [RCV001697319]|not specified [RCV003323615] |
Chr2:85541099 [GRCh38]
Chr2:85768222 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.54C>T (p.Phe18=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350394]|Familial thoracic aortic aneurysm and aortic dissection [RCV001452002]|not provided [RCV000536431] |
Chr2:85539341 [GRCh38]
Chr2:85766464 [GRCh37]
Chr2:2p11.2 |
likely benign |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3 |
copy number gain |
not provided [RCV000682150] |
Chr2:82517612..86262705 [GRCh37]
Chr2:2p12-11.2 |
uncertain significance |
| GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 |
copy number loss |
not provided [RCV000682167] |
Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_005911.6(MAT2A):c.816C>A (p.Gly272=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416078]|Familial thoracic aortic aneurysm and aortic dissection [RCV002064844]|not provided [RCV000876268] |
Chr2:85542612 [GRCh38]
Chr2:85769735 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.406-3T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001050853]|not provided [RCV001772255] |
Chr2:85541826 [GRCh38]
Chr2:85768949 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_005911.6(MAT2A):c.988A>G (p.Ile330Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379609]|Familial thoracic aortic aneurysm and aortic dissection [RCV001068051] |
Chr2:85542937 [GRCh38]
Chr2:85770060 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.550-32G>A |
single nucleotide variant |
not provided [RCV000834021] |
Chr2:85542123 [GRCh38]
Chr2:85769246 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.952-4T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000937143] |
Chr2:85542897 [GRCh38]
Chr2:85770020 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.91+44C>T |
single nucleotide variant |
not provided [RCV000834175] |
Chr2:85539422 [GRCh38]
Chr2:85766545 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.292+70G>A |
single nucleotide variant |
not provided [RCV000834231] |
Chr2:85541447 [GRCh38]
Chr2:85768570 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.1049A>T (p.Lys350Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003166387]|Familial thoracic aortic aneurysm and aortic dissection [RCV000819408] |
Chr2:85542998 [GRCh38]
Chr2:85770121 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.-111G>A |
single nucleotide variant |
not provided [RCV000838123] |
Chr2:85539177 [GRCh38]
Chr2:85766300 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+16A>G |
single nucleotide variant |
not provided [RCV000827042] |
Chr2:85542763 [GRCh38]
Chr2:85769886 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.92-237C>A |
single nucleotide variant |
not provided [RCV000838327] |
Chr2:85540846 [GRCh38]
Chr2:85767969 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.5(MAT2A):c.-132G>A |
single nucleotide variant |
not provided [RCV000839131] |
Chr2:85539156 [GRCh38]
Chr2:85766279 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.32C>T (p.Ala11Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000814734] |
Chr2:85539319 [GRCh38]
Chr2:85766442 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.952-49A>G |
single nucleotide variant |
not provided [RCV000834176] |
Chr2:85542852 [GRCh38]
Chr2:85542852..85542853 [GRCh38]
Chr2:85769975 [GRCh37]
Chr2:85769975..85769976 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.699G>A (p.Ala233=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372376]|not provided [RCV000831681] |
Chr2:85542304 [GRCh38]
Chr2:85769427 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.169+47A>G |
single nucleotide variant |
not provided [RCV000838733] |
Chr2:85541207 [GRCh38]
Chr2:85768330 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*4720G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138316] |
Chr2:85545214 [GRCh38]
Chr2:85772337 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1 |
copy number loss |
not provided [RCV000846587] |
Chr2:77907114..87330965 [GRCh37]
Chr2:2p12-11.2 |
pathogenic |
| NM_005911.6(MAT2A):c.8G>A (p.Gly3Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001223114] |
Chr2:85539295 [GRCh38]
Chr2:85766418 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.405+32T>C |
single nucleotide variant |
not provided [RCV001638971] |
Chr2:85541777 [GRCh38]
Chr2:85768900 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.276T>C (p.Tyr92=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001451168] |
Chr2:85541361 [GRCh38]
Chr2:85768484 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1086-8T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001244321] |
Chr2:85543662 [GRCh38]
Chr2:85770785 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_000821.7(GGCX):c.*4681G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001138317] |
Chr2:85545253 [GRCh38]
Chr2:85772376 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.141G>A (p.Gln47=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001400657] |
Chr2:85541132 [GRCh38]
Chr2:85768255 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_000821.7(GGCX):c.*4840T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143064] |
Chr2:85545094 [GRCh38]
Chr2:85772217 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_000821.7(GGCX):c.*4848C>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143063] |
Chr2:85545086 [GRCh38]
Chr2:85772209 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_000821.7(GGCX):c.*4798G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001143065] |
Chr2:85545136 [GRCh38]
Chr2:85772259 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.11A>C (p.Gln4Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001042624] |
Chr2:85539298 [GRCh38]
Chr2:85766421 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.92-63CATA[5] |
microsatellite |
not provided [RCV001614745] |
Chr2:85541019..85541020 [GRCh38]
Chr2:85768142..85768143 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.511G>A (p.Gly171Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001205843] |
Chr2:85541934 [GRCh38]
Chr2:85769057 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.952-5T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001204050] |
Chr2:85542896 [GRCh38]
Chr2:85770019 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1 |
copy number loss |
not provided [RCV001537915] |
Chr2:81209244..86688030 [GRCh37]
Chr2:2p12-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_005911.6(MAT2A):c.721A>G (p.Ile241Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377447]|Familial thoracic aortic aneurysm and aortic dissection [RCV001341341] |
Chr2:85542326 [GRCh38]
Chr2:85769449 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.55C>T (p.Leu19Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001342840] |
Chr2:85539342 [GRCh38]
Chr2:85766465 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.315C>T (p.Asn105=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004037773]|Familial thoracic aortic aneurysm and aortic dissection [RCV001396752]|not provided [RCV003326569] |
Chr2:85541655 [GRCh38]
Chr2:85768778 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.539C>G (p.Ser180Cys) |
single nucleotide variant |
Isolated thoracic aortic aneurysm [RCV001374773] |
Chr2:85541962 [GRCh38]
Chr2:85769085 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.613A>G (p.Ile205Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001364744] |
Chr2:85542218 [GRCh38]
Chr2:85769341 [GRCh37]
Chr2:2p11.2 |
likely benign|uncertain significance |
| NM_005911.6(MAT2A):c.1110T>G (p.Ile370Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001317756] |
Chr2:85543694 [GRCh38]
Chr2:85770817 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.377A>G (p.Asn126Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001346957] |
Chr2:85541717 [GRCh38]
Chr2:85768840 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.445T>A (p.Cys149Ser) |
single nucleotide variant |
Isolated thoracic aortic aneurysm [RCV001374772] |
Chr2:85541868 [GRCh38]
Chr2:85768991 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.939G>A (p.Arg313=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001413321] |
Chr2:85542735 [GRCh38]
Chr2:85769858 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.17A>G (p.Asn6Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001300211] |
Chr2:85539304 [GRCh38]
Chr2:85766427 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.324A>T (p.Val108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449115]|Familial thoracic aortic aneurysm and aortic dissection [RCV001410335]|not specified [RCV003230672] |
Chr2:85541664 [GRCh38]
Chr2:85768787 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.288C>T (p.Ser96=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001416738] |
Chr2:85541373 [GRCh38]
Chr2:85768496 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.996T>C (p.Ile332=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001466032] |
Chr2:85542945 [GRCh38]
Chr2:85770068 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.249T>C (p.Val83=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001490043] |
Chr2:85541334 [GRCh38]
Chr2:85768457 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1005T>C (p.Tyr335=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001458646] |
Chr2:85542954 [GRCh38]
Chr2:85770077 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NC_000002.12:g.85538814G>T |
single nucleotide variant |
not provided [RCV001769706] |
Chr2:85538814 [GRCh38]
Chr2:85765937 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NC_000002.12:g.85538732C>T |
single nucleotide variant |
not provided [RCV001774972] |
Chr2:85538732 [GRCh38]
Chr2:85765855 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.663C>A (p.Ala221=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361044]|not provided [RCV001774872] |
Chr2:85542268 [GRCh38]
Chr2:85769391 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.293-79T>C |
single nucleotide variant |
not provided [RCV001766315] |
Chr2:85541554 [GRCh38]
Chr2:85768677 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.293-47C>T |
single nucleotide variant |
not provided [RCV001768144] |
Chr2:85541586 [GRCh38]
Chr2:85768709 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.317T>G (p.Val106Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001970639] |
Chr2:85541657 [GRCh38]
Chr2:85768780 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.800T>C (p.Ile267Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002025878] |
Chr2:85542596 [GRCh38]
Chr2:85769719 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.286T>G (p.Ser96Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002006243] |
Chr2:85541371 [GRCh38]
Chr2:85768494 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.952-3T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002370478]|Familial thoracic aortic aneurysm and aortic dissection [RCV001911472] |
Chr2:85542898 [GRCh38]
Chr2:85770021 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| GRCh37/hg19 2p12-11.2(chr2:82486900-87322042) |
copy number loss |
not specified [RCV002053172] |
Chr2:82486900..87322042 [GRCh37]
Chr2:2p12-11.2 |
pathogenic |
| NM_005911.6(MAT2A):c.25C>T (p.His9Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001918008] |
Chr2:85539312 [GRCh38]
Chr2:85766435 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1053G>T (p.Lys351Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001866895] |
Chr2:85543002 [GRCh38]
Chr2:85770125 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.170-11_170-10del |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV001898105] |
Chr2:85541241..85541242 [GRCh38]
Chr2:85768364..85768365 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1172A>G (p.Lys391Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001922666] |
Chr2:85543756 [GRCh38]
Chr2:85770879 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.336A>G (p.Gln112=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002216370] |
Chr2:85541676 [GRCh38]
Chr2:85768799 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.768+18C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002076861] |
Chr2:85542391 [GRCh38]
Chr2:85769514 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.92-6T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002078164] |
Chr2:85541077 [GRCh38]
Chr2:85768200 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1152C>T (p.Ser384=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346464]|Familial thoracic aortic aneurysm and aortic dissection [RCV002171034] |
Chr2:85543736 [GRCh38]
Chr2:85770859 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.406-10_406-8del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002193596] |
Chr2:85541817..85541819 [GRCh38]
Chr2:85768940..85768942 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.729C>T (p.His243=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382323]|Familial thoracic aortic aneurysm and aortic dissection [RCV002073735]|not specified [RCV003331289] |
Chr2:85542334 [GRCh38]
Chr2:85769457 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.990C>T (p.Ile330=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382277]|Familial thoracic aortic aneurysm and aortic dissection [RCV002170733] |
Chr2:85542939 [GRCh38]
Chr2:85770062 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.75C>T (p.Val25=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004641923]|Familial thoracic aortic aneurysm and aortic dissection [RCV002107787] |
Chr2:85539362 [GRCh38]
Chr2:85766485 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.870C>T (p.Val290=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002175433] |
Chr2:85542666 [GRCh38]
Chr2:85769789 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1029A>G (p.Arg343=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002154973] |
Chr2:85542978 [GRCh38]
Chr2:85770101 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.769-20C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002101786] |
Chr2:85542545 [GRCh38]
Chr2:85769668 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+20C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003116878] |
Chr2:85542767 [GRCh38]
Chr2:85769890 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.91+14C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003112142] |
Chr2:85539392 [GRCh38]
Chr2:85766515 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NC_000002.11:g.(?_85766411)_(86564633_?)del |
deletion |
Hereditary spastic paraplegia 31 [RCV003111516] |
Chr2:85766411..86564633 [GRCh37]
Chr2:2p11.2 |
pathogenic |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_005911.6(MAT2A):c.540T>C (p.Ser180=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349423] |
Chr2:85541963 [GRCh38]
Chr2:85769086 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.664C>T (p.Leu222=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002366843] |
Chr2:85542269 [GRCh38]
Chr2:85769392 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.459C>T (p.Thr153=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342327] |
Chr2:85541882 [GRCh38]
Chr2:85769005 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.305A>C (p.Lys102Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002303612] |
Chr2:85541645 [GRCh38]
Chr2:85768768 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.498A>G (p.Glu166=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342923] |
Chr2:85541921 [GRCh38]
Chr2:85769044 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.51A>G (p.Thr17=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338593] |
Chr2:85539338 [GRCh38]
Chr2:85766461 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1141G>A (p.Gly381Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457160] |
Chr2:85543725 [GRCh38]
Chr2:85770848 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.440A>G (p.Glu147Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002333792] |
Chr2:85541863 [GRCh38]
Chr2:85768986 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.795A>G (p.Lys265=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416886]|Familial thoracic aortic aneurysm and aortic dissection [RCV003643006] |
Chr2:85542591 [GRCh38]
Chr2:85769714 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.981A>G (p.Pro327=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376821]|Familial thoracic aortic aneurysm and aortic dissection [RCV003103620] |
Chr2:85542930 [GRCh38]
Chr2:85770053 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.72G>T (p.Ser24=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382779]|Familial thoracic aortic aneurysm and aortic dissection [RCV003776374] |
Chr2:85539359 [GRCh38]
Chr2:85766482 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.343C>A (p.Pro115Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457097] |
Chr2:85541683 [GRCh38]
Chr2:85768806 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.256G>A (p.Ala86Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425998] |
Chr2:85541341 [GRCh38]
Chr2:85768464 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.891T>C (p.Ala297=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376132]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528386] |
Chr2:85542687 [GRCh38]
Chr2:85769810 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.581_582insAGTATATGCAGGACTC (p.Leu196fs) |
insertion |
Cardiovascular phenotype [RCV002353113] |
Chr2:85542185..85542186 [GRCh38]
Chr2:85769308..85769309 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1042A>G (p.Ile348Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392457] |
Chr2:85542991 [GRCh38]
Chr2:85770114 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.120T>C (p.Ala40=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002353351]|Familial thoracic aortic aneurysm and aortic dissection [RCV003096896]|MAT2A-related disorder [RCV003973385] |
Chr2:85541111 [GRCh38]
Chr2:85768234 [GRCh37]
Chr2:2p11.2 |
benign|likely benign |
| NM_005911.6(MAT2A):c.17A>T (p.Asn6Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407867] |
Chr2:85539304 [GRCh38]
Chr2:85766427 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.690T>C (p.Val230=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362345]|Familial thoracic aortic aneurysm and aortic dissection [RCV003098415] |
Chr2:85542295 [GRCh38]
Chr2:85769418 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.488A>G (p.Lys163Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340525] |
Chr2:85541911 [GRCh38]
Chr2:85769034 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.519G>A (p.Leu173=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338570] |
Chr2:85541942 [GRCh38]
Chr2:85769065 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.324A>G (p.Val108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002324862] |
Chr2:85541664 [GRCh38]
Chr2:85768787 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.12G>A (p.Gln4=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380805]|Familial thoracic aortic aneurysm and aortic dissection [RCV003094934] |
Chr2:85539299 [GRCh38]
Chr2:85766422 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.819T>C (p.Gly273=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427897] |
Chr2:85542615 [GRCh38]
Chr2:85769738 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1062T>C (p.Asp354=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410410] |
Chr2:85543011 [GRCh38]
Chr2:85770134 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.174T>C (p.Thr58=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401567] |
Chr2:85541259 [GRCh38]
Chr2:85768382 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.30G>C (p.Glu10Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325963] |
Chr2:85539317 [GRCh38]
Chr2:85766440 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.158A>G (p.Lys53Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398387] |
Chr2:85541149 [GRCh38]
Chr2:85768272 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.462T>C (p.Ile154=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330403] |
Chr2:85541885 [GRCh38]
Chr2:85769008 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.426C>T (p.Ala142=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330007] |
Chr2:85541849 [GRCh38]
Chr2:85768972 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1183T>C (p.Tyr395His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337648] |
Chr2:85543767 [GRCh38]
Chr2:85770890 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.16A>C (p.Asn6His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414688]|Familial thoracic aortic aneurysm and aortic dissection [RCV003097136] |
Chr2:85539303 [GRCh38]
Chr2:85766426 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.465C>T (p.Val155=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330476] |
Chr2:85541888 [GRCh38]
Chr2:85769011 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1173A>G (p.Lys391=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332376]|Familial thoracic aortic aneurysm and aortic dissection [RCV003094661] |
Chr2:85543757 [GRCh38]
Chr2:85770880 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.48C>A (p.Gly16=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332402] |
Chr2:85539335 [GRCh38]
Chr2:85766458 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.480A>C (p.Leu160=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337924]|Familial thoracic aortic aneurysm and aortic dissection [RCV003642997]|MAT2A-related disorder [RCV003896137] |
Chr2:85541903 [GRCh38]
Chr2:85769026 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.549A>G (p.Gln183=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002771622] |
Chr2:85541972 [GRCh38]
Chr2:85769095 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.876T>C (p.Arg292=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002685379] |
Chr2:85542672 [GRCh38]
Chr2:85769795 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.537T>C (p.Asp179=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002615385] |
Chr2:85541960 [GRCh38]
Chr2:85769083 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.549+19G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002838837] |
Chr2:85541991 [GRCh38]
Chr2:85769114 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1019A>G (p.Lys340Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004642106]|Familial thoracic aortic aneurysm and aortic dissection [RCV002996284] |
Chr2:85542968 [GRCh38]
Chr2:85770091 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.169+13T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002863748] |
Chr2:85541173 [GRCh38]
Chr2:85768296 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.504C>T (p.Arg168=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003021953] |
Chr2:85541927 [GRCh38]
Chr2:85769050 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.549+19G>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002640374] |
Chr2:85541991 [GRCh38]
Chr2:85769114 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.374G>A (p.Arg125Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002825581] |
Chr2:85541714 [GRCh38]
Chr2:85768837 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.91+17A>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002780292] |
Chr2:85539395 [GRCh38]
Chr2:85766518 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.169+19del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003018476] |
Chr2:85541178 [GRCh38]
Chr2:85768301 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.771T>G (p.Gly257=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004067170]|Familial thoracic aortic aneurysm and aortic dissection [RCV002952364] |
Chr2:85542567 [GRCh38]
Chr2:85769690 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.768+8C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002866875] |
Chr2:85542381 [GRCh38]
Chr2:85769504 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.91+20C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003018791] |
Chr2:85539398 [GRCh38]
Chr2:85766521 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+12_951+13del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002785370] |
Chr2:85542758..85542759 [GRCh38]
Chr2:85769881..85769882 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.84C>A (p.Gly28=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003020893] |
Chr2:85539371 [GRCh38]
Chr2:85766494 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.292+12T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003025034] |
Chr2:85541389 [GRCh38]
Chr2:85768512 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.574C>T (p.Arg192Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003090291] |
Chr2:85542179 [GRCh38]
Chr2:85769302 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.550-12G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003028601] |
Chr2:85542143 [GRCh38]
Chr2:85769266 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.769-19_769-18dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV003065762] |
Chr2:85542545..85542546 [GRCh38]
Chr2:85769668..85769669 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.259G>C (p.Val87Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004146562] |
Chr2:85541344 [GRCh38]
Chr2:85768467 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.219C>T (p.Ser73=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002582473] |
Chr2:85541304 [GRCh38]
Chr2:85768427 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.768+13del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002583975] |
Chr2:85542383 [GRCh38]
Chr2:85769506 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.963T>A (p.Ala321=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168228] |
Chr2:85542912 [GRCh38]
Chr2:85770035 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.676G>A (p.Val226Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003305478] |
Chr2:85542281 [GRCh38]
Chr2:85769404 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.405+20G>A |
single nucleotide variant |
not specified [RCV003324143] |
Chr2:85541765 [GRCh38]
Chr2:85768888 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.21C>T (p.Gly7=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380171] |
Chr2:85539308 [GRCh38]
Chr2:85766431 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.754A>T (p.Ile252Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380166] |
Chr2:85542359 [GRCh38]
Chr2:85769482 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.111C>T (p.Ile37=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380167] |
Chr2:85541102 [GRCh38]
Chr2:85768225 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.246G>A (p.Val82=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380168]|Familial thoracic aortic aneurysm and aortic dissection [RCV003778131] |
Chr2:85541331 [GRCh38]
Chr2:85768454 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.798C>A (p.Ile266=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380169] |
Chr2:85542594 [GRCh38]
Chr2:85769717 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.28G>C (p.Glu10Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380172] |
Chr2:85539315 [GRCh38]
Chr2:85766438 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1011C>T (p.Thr337=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003874289] |
Chr2:85542960 [GRCh38]
Chr2:85770083 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.631G>A (p.Glu211Lys) |
single nucleotide variant |
MAT2A-related disorder [RCV003404269] |
Chr2:85542236 [GRCh38]
Chr2:85769359 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.91+19G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003880652] |
Chr2:85539397 [GRCh38]
Chr2:85766520 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.405+16G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003527785] |
Chr2:85541761 [GRCh38]
Chr2:85768884 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.92-5dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV003643195] |
Chr2:85541074..85541075 [GRCh38]
Chr2:85768197..85768198 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.37A>G (p.Ile13Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003529649] |
Chr2:85539324 [GRCh38]
Chr2:85766447 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.810T>C (p.Thr270=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003827168] |
Chr2:85542606 [GRCh38]
Chr2:85769729 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.816C>T (p.Gly272=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003642832] |
Chr2:85542612 [GRCh38]
Chr2:85769735 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.11A>G (p.Gln4Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004371660]|Familial thoracic aortic aneurysm and aortic dissection [RCV003643654] |
Chr2:85539298 [GRCh38]
Chr2:85766421 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.614T>C (p.Ile205Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003527814] |
Chr2:85542219 [GRCh38]
Chr2:85769342 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.292+17T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003529696] |
Chr2:85541394 [GRCh38]
Chr2:85768517 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.697G>C (p.Ala233Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003643605] |
Chr2:85542302 [GRCh38]
Chr2:85769425 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.769-13C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528869] |
Chr2:85542552 [GRCh38]
Chr2:85769675 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.960T>C (p.Tyr320=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003529593] |
Chr2:85542909 [GRCh38]
Chr2:85770032 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+14A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003643557] |
Chr2:85542761 [GRCh38]
Chr2:85769884 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.741T>C (p.Ser247=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004369171]|Familial thoracic aortic aneurysm and aortic dissection [RCV003529203] |
Chr2:85542346 [GRCh38]
Chr2:85769469 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.951+20C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003642856] |
Chr2:85542767 [GRCh38]
Chr2:85769890 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1086-18C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003643467] |
Chr2:85543652 [GRCh38]
Chr2:85770775 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.444G>A (p.Glu148=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003882715] |
Chr2:85541867 [GRCh38]
Chr2:85768990 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.550-19G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003642748] |
Chr2:85542136 [GRCh38]
Chr2:85769259 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.952-20del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003642794] |
Chr2:85542881 [GRCh38]
Chr2:85770004 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.550-7dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV003644304] |
Chr2:85542146..85542147 [GRCh38]
Chr2:85769269..85769270 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.460A>G (p.Ile154Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003878197] |
Chr2:85541883 [GRCh38]
Chr2:85769006 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1158A>G (p.Pro386=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003879031] |
Chr2:85543742 [GRCh38]
Chr2:85770865 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.550-17C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003810848] |
Chr2:85542138 [GRCh38]
Chr2:85769261 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.768+24dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV003856861] |
Chr2:85542392..85542393 [GRCh38]
Chr2:85769515..85769516 [GRCh37]
Chr2:2p11.2 |
benign |
| NM_005911.6(MAT2A):c.384A>C (p.Glu128Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003814018] |
Chr2:85541724 [GRCh38]
Chr2:85768847 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.170-13C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003839421] |
Chr2:85541242 [GRCh38]
Chr2:85768365 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.292+14A>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003834814] |
Chr2:85541391 [GRCh38]
Chr2:85768514 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.849A>C (p.Ser283=) |
single nucleotide variant |
MAT2A-related disorder [RCV003892280] |
Chr2:85542645 [GRCh38]
Chr2:85769768 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.658G>A (p.Asp220Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003865146] |
Chr2:85542263 [GRCh38]
Chr2:85769386 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.92-8T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003845450] |
Chr2:85541075 [GRCh38]
Chr2:85768198 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.934C>G (p.Arg312Gly) |
single nucleotide variant |
not specified [RCV004527122] |
Chr2:85542730 [GRCh38]
Chr2:85769853 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1035A>G (p.Leu345=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004523817] |
Chr2:85542984 [GRCh38]
Chr2:85770107 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.1068C>T (p.Arg356=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004523818] |
Chr2:85543017 [GRCh38]
Chr2:85770140 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.177T>G (p.Val59=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004523819] |
Chr2:85541262 [GRCh38]
Chr2:85768385 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.655A>G (p.Arg219Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004523820] |
Chr2:85542260 [GRCh38]
Chr2:85769383 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.693G>A (p.Val231=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004523821] |
Chr2:85542298 [GRCh38]
Chr2:85769421 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.717T>G (p.Asp239Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004523822] |
Chr2:85542322 [GRCh38]
Chr2:85769445 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.262A>G (p.Lys88Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637674] |
Chr2:85541347 [GRCh38]
Chr2:85768470 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.1183T>A (p.Tyr395Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637675] |
Chr2:85543767 [GRCh38]
Chr2:85770890 [GRCh37]
Chr2:2p11.2 |
uncertain significance |
| NM_005911.6(MAT2A):c.300C>T (p.Asp100=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637672] |
Chr2:85541640 [GRCh38]
Chr2:85768763 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.293-17G>A |
single nucleotide variant |
not specified [RCV004702151] |
Chr2:85541616 [GRCh38]
Chr2:85768739 [GRCh37]
Chr2:2p11.2 |
likely benign |
| NM_005911.6(MAT2A):c.768+13dup |
duplication |
not specified [RCV004702983] |
Chr2:85542382..85542383 [GRCh38]
Chr2:85769505..85769506 [GRCh37]
Chr2:2p11.2 |
benign |
