| NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000544281] |
Chr2:174754246 [GRCh38]
Chr2:175618974 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1333G>A (p.Val445Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000555125] |
Chr2:174748165 [GRCh38]
Chr2:175612893 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.441del (p.Cys148fs) |
deletion |
Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020054] |
Chr2:174754318 [GRCh38]
Chr2:175619046 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.117_133dup (p.His45fs) |
duplication |
Lethal multiple pterygium syndrome [RCV000020057] |
Chr2:174759543..174759544 [GRCh38]
Chr2:175624271..175624272 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.235-353G>A |
single nucleotide variant |
Myasthenic syndrome, congenital, 1B, fast-channel [RCV000022417] |
Chr2:174758028 [GRCh38]
Chr2:175622756 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000803477]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV000022418]|not provided [RCV002255118] |
Chr2:174749951 [GRCh38]
Chr2:175614679 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000079.4(CHRNA1):c.1088C>T (p.Thr363Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000524783] |
Chr2:174748734 [GRCh38]
Chr2:175613462 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.780G>A (p.Gly260=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000526649] |
Chr2:174750168 [GRCh38]
Chr2:175614896 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001442123] |
Chr2:174748244 [GRCh38]
Chr2:175612972 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.923C>T (p.Ser308Phe) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000527821] |
Chr2:174750025 [GRCh38]
Chr2:175614753 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020044] |
Chr2:174753570 [GRCh38]
Chr2:175618298 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020045]|Lethal multiple pterygium syndrome [RCV001237075]|not provided [RCV003144108] |
Chr2:174754233 [GRCh38]
Chr2:175618961 [GRCh37]
Chr2:2q31.1 |
pathogenic|uncertain significance |
| NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020046] |
Chr2:174750127 [GRCh38]
Chr2:175614855 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020047]|Lethal multiple pterygium syndrome [RCV000556947]|not provided [RCV001564390] |
Chr2:174754242 [GRCh38]
Chr2:175618970 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic |
| NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020048] |
Chr2:174750082 [GRCh38]
Chr2:175614810 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020049]|Inborn genetic diseases [RCV000623150]|Lethal multiple pterygium syndrome [RCV001851960] |
Chr2:174750143 [GRCh38]
Chr2:175614871 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) |
single nucleotide variant |
Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020050] |
Chr2:174750035 [GRCh38]
Chr2:175614763 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517130]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020051] |
Chr2:174753524 [GRCh38]
Chr2:175618252 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic |
| NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) |
single nucleotide variant |
Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020052] |
Chr2:174750122 [GRCh38]
Chr2:175614850 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) |
single nucleotide variant |
Myasthenic syndrome, congenital, 1B, fast-channel [RCV000020053] |
Chr2:174754305 [GRCh38]
Chr2:175619033 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV000020055] |
Chr2:174748184 [GRCh38]
Chr2:175612912 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000020056] |
Chr2:174753595 [GRCh38]
Chr2:175618323 [GRCh37]
Chr2:2q31.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 |
copy number loss |
See cases [RCV000050765] |
Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 |
copy number loss |
See cases [RCV000051201] |
Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 |
copy number loss |
See cases [RCV000052554] |
Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1 |
pathogenic |
| GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 |
copy number loss |
See cases [RCV000052555] |
Chr2:173408061..177702487 [GRCh38]
Chr2:174272789..178567215 [GRCh37]
Chr2:173981035..178275461 [NCBI36]
Chr2:2q31.1-31.2 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1 |
copy number loss |
See cases [RCV000052556] |
Chr2:173699279..175586070 [GRCh38]
Chr2:174564007..176450798 [GRCh37]
Chr2:174272253..176159044 [NCBI36]
Chr2:2q31.1 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:173960458-175924594)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052557]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052557]|See cases [RCV000052557] |
Chr2:173960458..175924594 [GRCh38]
Chr2:174825186..176789322 [GRCh37]
Chr2:174533432..176497568 [NCBI36]
Chr2:2q31.1 |
pathogenic |
| GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 |
copy number loss |
See cases [RCV000054122] |
Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1 |
pathogenic |
| GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 |
copy number loss |
See cases [RCV000054127] |
Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1 |
pathogenic |
| NM_001039523.2(CHRNA1):c.641A>G (p.Asn214Ser) |
single nucleotide variant |
Malignant melanoma [RCV000065207] |
Chr2:174753715 [GRCh38]
Chr2:175618443 [GRCh37]
Chr2:175326689 [NCBI36]
Chr2:2q31.1 |
not provided |
| NM_001039523.2(CHRNA1):c.277G>A (p.Gly93Arg) |
single nucleotide variant |
Malignant melanoma [RCV000060404] |
Chr2:174757978 [GRCh38]
Chr2:175622706 [GRCh37]
Chr2:175330952 [NCBI36]
Chr2:2q31.1 |
not provided |
| NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000330064]|Lethal multiple pterygium syndrome [RCV000548727]|not specified [RCV000116706] |
Chr2:174748749 [GRCh38]
Chr2:175613477 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000079.4(CHRNA1):c.540+4G>C |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000266267]|Lethal multiple pterygium syndrome [RCV000545178]|not specified [RCV000116707] |
Chr2:174754215 [GRCh38]
Chr2:175618943 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000079.4(CHRNA1):c.960C>T (p.His320=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000291166]|Lethal multiple pterygium syndrome [RCV000380735]|not specified [RCV000116708] |
Chr2:174749988 [GRCh38]
Chr2:175614716 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000079.4(CHRNA1):c.737C>A (p.Ser246Tyr) |
single nucleotide variant |
Myasthenic syndrome, slow-channel congenital [RCV000122732] |
Chr2:174753544 [GRCh38]
Chr2:175618272 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001047612]|Myasthenic syndrome, slow-channel congenital [RCV000122733]|not provided [RCV002291564] |
Chr2:174753544 [GRCh38]
Chr2:175618272 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.687C>T (p.Arg229=) |
single nucleotide variant |
Non-immune hydrops fetalis [RCV000170571] |
Chr2:174753594 [GRCh38]
Chr2:175618322 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic |
| NM_000079.4(CHRNA1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001294154] |
Chr2:174764392 [GRCh38]
Chr2:175629120 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.4G>T (p.Glu2Ter) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001292897] |
Chr2:174764391 [GRCh38]
Chr2:175629119 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter) |
single nucleotide variant |
not provided [RCV001579570] |
Chr2:174757593 [GRCh38]
Chr2:175622321 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic |
| NM_000079.4(CHRNA1):c.778+201G>A |
single nucleotide variant |
not provided [RCV001545633] |
Chr2:174753302 [GRCh38]
Chr2:175618030 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.218A>C (p.Asn73Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001302449] |
Chr2:174759347 [GRCh38]
Chr2:175624075 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 |
copy number loss |
See cases [RCV000136850] |
Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2 |
pathogenic |
| GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 |
copy number loss |
See cases [RCV000136861] |
Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3 |
copy number gain |
See cases [RCV000138664] |
Chr2:173713838..175467462 [GRCh38]
Chr2:174578566..176332190 [GRCh37]
Chr2:174286812..176040436 [NCBI36]
Chr2:2q31.1 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 |
copy number loss |
See cases [RCV000139646] |
Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2 |
pathogenic |
| GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1 |
copy number loss |
See cases [RCV000142878] |
Chr2:173713838..175467462 [GRCh38]
Chr2:174578566..176332190 [GRCh37]
Chr2:174286812..176040436 [NCBI36]
Chr2:2q31.1 |
pathogenic |
| GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 |
copy number loss |
See cases [RCV000143597] |
Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000364273]|Lethal multiple pterygium syndrome [RCV001083064]|not provided [RCV000870803]|not specified [RCV000193476] |
Chr2:174753638 [GRCh38]
Chr2:175618366 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000277508]|Lethal multiple pterygium syndrome [RCV001086080]|not provided [RCV000724411]|not specified [RCV000246828] |
Chr2:174753626 [GRCh38]
Chr2:175618354 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) |
single nucleotide variant |
CHRNA1-related condition [RCV003955088]|Lethal multiple pterygium syndrome [RCV001087107]|not provided [RCV000179711] |
Chr2:174750000 [GRCh38]
Chr2:175614728 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000319368]|Lethal multiple pterygium syndrome [RCV001052343]|not provided [RCV003144219] |
Chr2:174748251 [GRCh38]
Chr2:175612979 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) |
single nucleotide variant |
Autism [RCV000679850]|Lethal multiple pterygium syndrome [RCV000542688]|not provided [RCV000522179] |
Chr2:174748177 [GRCh38]
Chr2:175612905 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic |
| NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000355540]|Lethal multiple pterygium syndrome [RCV000553938]|not provided [RCV001764303]|not specified [RCV000517943] |
Chr2:174748589 [GRCh38]
Chr2:175613317 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.1002+9G>A |
single nucleotide variant |
CHRNA1-related condition [RCV003972404]|Congenital myasthenic syndrome [RCV000275802]|Lethal multiple pterygium syndrome [RCV000642126] |
Chr2:174749937 [GRCh38]
Chr2:175614665 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) |
single nucleotide variant |
CHRNA1-related condition [RCV003957712]|Congenital myasthenic syndrome [RCV000358139]|Lethal multiple pterygium syndrome [RCV000875271]|not provided [RCV003884493] |
Chr2:174748205 [GRCh38]
Chr2:175612933 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000312777]|Lethal multiple pterygium syndrome [RCV000367342] |
Chr2:174753576 [GRCh38]
Chr2:175618304 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.779-13_779-12del |
deletion |
Autosomal recessive multiple pterygium syndrome [RCV000407750]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000338507]|not provided [RCV001705502] |
Chr2:174750181..174750182 [GRCh38]
Chr2:175614909..175614910 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 |
copy number gain |
See cases [RCV000239848] |
Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000380558]|Inborn genetic diseases [RCV002521336]|Juvenile myoclonic epilepsy [RCV000678786]|Lethal multiple pterygium syndrome [RCV000543342]|not provided [RCV003144220] |
Chr2:174757591 [GRCh38]
Chr2:175622319 [GRCh37]
Chr2:2q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000281666]|Lethal multiple pterygium syndrome [RCV000530873]|not provided [RCV001090465] |
Chr2:174759341 [GRCh38]
Chr2:175624069 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1 |
copy number loss |
See cases [RCV000240261] |
Chr2:174586724..176423918 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.190-5del |
deletion |
Autosomal recessive multiple pterygium syndrome [RCV000311146]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000401626]|Congenital myasthenic syndrome 1A [RCV001579073]|Lethal multiple pterygium syndrome [RCV001520951]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579074]|not provided [RCV001705341]|not specified [RCV000253666] |
Chr2:174759380 [GRCh38]
Chr2:175624108 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1242+35T>A |
single nucleotide variant |
not provided [RCV001651148]|not specified [RCV000253776] |
Chr2:174748545 [GRCh38]
Chr2:175613273 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.-13G>A |
single nucleotide variant |
not specified [RCV000251405] |
Chr2:174764407 [GRCh38]
Chr2:175629135 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1003-33_1003-31del |
microsatellite |
not provided [RCV000839702]|not specified [RCV000244249] |
Chr2:174748850..174748852 [GRCh38]
Chr2:175613578..175613580 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_001039523.2(CHRNA1):c.-478A>G |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001510940]|not provided [RCV001668453]|not specified [RCV000249329] |
Chr2:174764872 [GRCh38]
Chr2:175629600 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000079.4(CHRNA1):c.-17A>C |
single nucleotide variant |
not specified [RCV000244632] |
Chr2:174764411 [GRCh38]
Chr2:175629139 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-358T>C |
single nucleotide variant |
not specified [RCV000245321] |
Chr2:174758033 [GRCh38]
Chr2:175622761 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-385C>T |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV001579071]|Lethal multiple pterygium syndrome [RCV001579070]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579072]|not provided [RCV000838773]|not specified [RCV000250261] |
Chr2:174758060 [GRCh38]
Chr2:175622788 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001414827]|not specified [RCV000250324] |
Chr2:174748178 [GRCh38]
Chr2:175612906 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1243-38C>T |
single nucleotide variant |
not specified [RCV000245810] |
Chr2:174748293 [GRCh38]
Chr2:175613021 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.946A>C (p.Ile316Leu) |
single nucleotide variant |
not provided [RCV000519648] |
Chr2:174750002 [GRCh38]
Chr2:175614730 [GRCh37]
Chr2:2q31.1 |
likely pathogenic|uncertain significance |
| NM_000079.4(CHRNA1):c.*422G>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000320358]|Lethal multiple pterygium syndrome [RCV000267328] |
Chr2:174747702 [GRCh38]
Chr2:175612430 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000303322]|Inborn genetic diseases [RCV002523096]|Lethal multiple pterygium syndrome [RCV000824373]|not provided [RCV003144218] |
Chr2:174748204 [GRCh38]
Chr2:175612932 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.*411G>A |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000371665]|Lethal multiple pterygium syndrome [RCV000319128] |
Chr2:174747713 [GRCh38]
Chr2:175612441 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000347779]|Lethal multiple pterygium syndrome [RCV000642120] |
Chr2:174748166 [GRCh38]
Chr2:175612894 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000304338]|Lethal multiple pterygium syndrome [RCV000871752] |
Chr2:174748250 [GRCh38]
Chr2:175612978 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.*288G>A |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000292429]|Lethal multiple pterygium syndrome [RCV000389051] |
Chr2:174747836 [GRCh38]
Chr2:175612564 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.*426C>A |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000364201]|Lethal multiple pterygium syndrome [RCV000307158]|not provided [RCV001850793] |
Chr2:174747698 [GRCh38]
Chr2:175612426 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000079.4(CHRNA1):c.-37A>G |
single nucleotide variant |
CHRNA1-related condition [RCV003940335]|Congenital myasthenic syndrome [RCV000308236]|Lethal multiple pterygium syndrome [RCV000362888] |
Chr2:174764431 [GRCh38]
Chr2:175629159 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001087747]|not provided [RCV000362834] |
Chr2:174748683 [GRCh38]
Chr2:175613411 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.*461A>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000406605]|Lethal multiple pterygium syndrome [RCV000365487] |
Chr2:174747663 [GRCh38]
Chr2:175612391 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000377470]|Lethal multiple pterygium syndrome [RCV000874309]|not provided [RCV003884494] |
Chr2:174750135 [GRCh38]
Chr2:175614863 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000383871]|Lethal multiple pterygium syndrome [RCV000329567] |
Chr2:174753676 [GRCh38]
Chr2:175618404 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.779-12del |
deletion |
Autosomal recessive multiple pterygium syndrome [RCV000407715]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000297624]|not provided [RCV001538946] |
Chr2:174750181 [GRCh38]
Chr2:175614909 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000079.4(CHRNA1):c.779-12_779-11del |
deletion |
Autosomal recessive multiple pterygium syndrome [RCV000283001]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000342138]|Lethal multiple pterygium syndrome [RCV002521335] |
Chr2:174750180..174750181 [GRCh38]
Chr2:175614908..175614909 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.*414T>A |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000358762]|Lethal multiple pterygium syndrome [RCV000261563] |
Chr2:174747710 [GRCh38]
Chr2:175612438 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.320G>T (p.Arg107Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001313199]|not provided [RCV000387156] |
Chr2:174757590 [GRCh38]
Chr2:175622318 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.204G>A (p.Gln68=) |
single nucleotide variant |
not provided [RCV000366360] |
Chr2:174759361 [GRCh38]
Chr2:175624089 [GRCh37]
Chr2:2q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.*358C>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000279387]|Lethal multiple pterygium syndrome [RCV000332169] |
Chr2:174747766 [GRCh38]
Chr2:175612494 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1345C>T (p.Arg449Ter) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002530851]|not provided [RCV000584889] |
Chr2:174748153 [GRCh38]
Chr2:175612881 [GRCh37]
Chr2:2q31.1 |
likely pathogenic|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_000079.4(CHRNA1):c.410C>T (p.Thr137Met) |
single nucleotide variant |
Epilepsy [RCV000781968]|Lethal multiple pterygium syndrome [RCV003517202]|Seizure [RCV000781969]|not provided [RCV000488357] |
Chr2:174754349 [GRCh38]
Chr2:175619077 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.*275A>G |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000398582]|Lethal multiple pterygium syndrome [RCV000349753] |
Chr2:174747849 [GRCh38]
Chr2:175612577 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.267A>G (p.Pro89=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000335562]|Lethal multiple pterygium syndrome [RCV000371434] |
Chr2:174757643 [GRCh38]
Chr2:175622371 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV000392287]|Lethal multiple pterygium syndrome [RCV000351967] |
Chr2:174759566 [GRCh38]
Chr2:175624294 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001136151]|Lethal multiple pterygium syndrome [RCV000551830] |
Chr2:174750036 [GRCh38]
Chr2:175614764 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.189+12G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002062983]|not specified [RCV000603502] |
Chr2:174759476 [GRCh38]
Chr2:175624204 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000079.4(CHRNA1):c.424G>A (p.Ala142Thr) |
single nucleotide variant |
Myasthenic syndrome, slow-channel congenital [RCV000655947] |
Chr2:174754335 [GRCh38]
Chr2:175619063 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.357C>G (p.Asp119Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000556025]|not provided [RCV001755841] |
Chr2:174754402 [GRCh38]
Chr2:175619130 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1242+10G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002059002]|not specified [RCV000432502] |
Chr2:174748570 [GRCh38]
Chr2:175613298 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.622G>A (p.Val208Met) |
single nucleotide variant |
not provided [RCV000438167] |
Chr2:174753659 [GRCh38]
Chr2:175618387 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.621C>T (p.Ser207=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000533901]|not provided [RCV001720174] |
Chr2:174753660 [GRCh38]
Chr2:175618388 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 |
copy number gain |
See cases [RCV000448271] |
Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35 |
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 |
| NM_000079.4(CHRNA1):c.934_942del (p.Thr312_Ile314del) |
deletion |
not provided [RCV000485438] |
Chr2:174750006..174750014 [GRCh38]
Chr2:175614734..175614742 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.235-323G>A |
single nucleotide variant |
not provided [RCV000478345] |
Chr2:174757998 [GRCh38]
Chr2:175622726 [GRCh37]
Chr2:2q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) |
duplication |
Lethal multiple pterygium syndrome [RCV001383195]|Lethal multiple pterygium syndrome [RCV002496853]|not provided [RCV000487200] |
Chr2:174754240..174754241 [GRCh38]
Chr2:175618968..175618969 [GRCh37]
Chr2:2q31.1 |
pathogenic|likely pathogenic |
| NM_000079.4(CHRNA1):c.235-1G>A |
single nucleotide variant |
not provided [RCV000480204] |
Chr2:174757676 [GRCh38]
Chr2:175622404 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1 |
copy number loss |
See cases [RCV000510266] |
Chr2:174783555..176832848 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003114619]|not provided [RCV000494143] |
Chr2:174759502 [GRCh38]
Chr2:175624230 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.778G>T (p.Gly260Trp) |
single nucleotide variant |
not provided [RCV000494647] |
Chr2:174753503 [GRCh38]
Chr2:175618231 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.383T>G (p.Val128Gly) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000532088] |
Chr2:174754376 [GRCh38]
Chr2:175619104 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| 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_000079.4(CHRNA1):c.1199A>G (p.Lys400Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000642111] |
Chr2:174748623 [GRCh38]
Chr2:175613351 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.345-10C>T |
single nucleotide variant |
CHRNA1-related condition [RCV003953147]|Lethal multiple pterygium syndrome [RCV000642128] |
Chr2:174754424 [GRCh38]
Chr2:175619152 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NC_000002.12:g.(?_174747592)_(174754414_?)del |
deletion |
Lethal multiple pterygium syndrome [RCV000536086] |
Chr2:174747592..174754414 [GRCh38]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.648C>T (p.Thr216=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000642130] |
Chr2:174753633 [GRCh38]
Chr2:175618361 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.265C>G (p.Pro89Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000642113] |
Chr2:174757645 [GRCh38]
Chr2:175622373 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.-8G>A |
single nucleotide variant |
CHRNA1-related condition [RCV003935645]|not provided [RCV000711199]|not specified [RCV000615021] |
Chr2:174764402 [GRCh38]
Chr2:175629130 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000642117]|not provided [RCV003144422] |
Chr2:174764382 [GRCh38]
Chr2:175629110 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000537521] |
Chr2:174754223 [GRCh38]
Chr2:175618951 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001129173]|Lethal multiple pterygium syndrome [RCV001083890]|not provided [RCV000585349] |
Chr2:174753558 [GRCh38]
Chr2:175618286 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000534544] |
Chr2:174753570 [GRCh38]
Chr2:175618298 [GRCh37]
Chr2:2q31.1 |
pathogenic|uncertain significance |
| NM_000079.4(CHRNA1):c.320G>A (p.Arg107His) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000642108]|not provided [RCV003144421] |
Chr2:174757590 [GRCh38]
Chr2:175622318 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.575A>G (p.Glu192Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003343909]|Lethal multiple pterygium syndrome [RCV000557564] |
Chr2:174753706 [GRCh38]
Chr2:175618434 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.884G>C (p.Gly295Ala) |
single nucleotide variant |
not provided [RCV000585118] |
Chr2:174750064 [GRCh38]
Chr2:175614792 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.1153C>T (p.Pro385Ser) |
single nucleotide variant |
not provided [RCV000658889] |
Chr2:174748669 [GRCh38]
Chr2:175613397 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3 |
copy number gain |
not provided [RCV000682159] |
Chr2:171667051..176832848 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1 |
copy number loss |
not provided [RCV000682153] |
Chr2:173741558..178416381 [GRCh37]
Chr2:2q31.1-31.2 |
pathogenic |
| NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile) |
single nucleotide variant |
Epilepsy [RCV000678787] |
Chr2:174753571 [GRCh38]
Chr2:175618299 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001131857]|Lethal multiple pterygium syndrome [RCV000701779] |
Chr2:174753595 [GRCh38]
Chr2:175618323 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002533611]|Lethal multiple pterygium syndrome [RCV000701057]|not provided [RCV003144553] |
Chr2:174748755 [GRCh38]
Chr2:175613483 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.103T>G (p.Tyr35Asp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000686694] |
Chr2:174759574 [GRCh38]
Chr2:175624302 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000685192]|not provided [RCV003144481] |
Chr2:174757630 [GRCh38]
Chr2:175622358 [GRCh37]
Chr2:2q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.1088C>G (p.Thr363Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000689367] |
Chr2:174748734 [GRCh38]
Chr2:175613462 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.769A>G (p.Thr257Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000689992] |
Chr2:174753512 [GRCh38]
Chr2:175618240 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.749G>A (p.Gly250Asp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000705353] |
Chr2:174753532 [GRCh38]
Chr2:175618260 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000698047]|not provided [RCV003144542] |
Chr2:174759613 [GRCh38]
Chr2:175624341 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000692243]|not provided [RCV003144516] |
Chr2:174759625 [GRCh38]
Chr2:175624353 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.995T>C (p.Val332Ala) |
single nucleotide variant |
CHRNA1-Related Congenital Myasthenic Syndrome [RCV000714729] |
Chr2:174749953 [GRCh38]
Chr2:175614681 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| 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 |
| GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 |
copy number loss |
not provided [RCV000740710] |
Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.778+316C>G |
single nucleotide variant |
not provided [RCV001567517] |
Chr2:174753187 [GRCh38]
Chr2:175617915 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.345-98C>T |
single nucleotide variant |
not provided [RCV001576595] |
Chr2:174754512 [GRCh38]
Chr2:175619240 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.44-118G>A |
single nucleotide variant |
not provided [RCV001551417] |
Chr2:174759751 [GRCh38]
Chr2:175624479 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.234+33T>C |
single nucleotide variant |
not provided [RCV001583719] |
Chr2:174759298 [GRCh38]
Chr2:175624026 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.924C>T (p.Ser308=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001426021] |
Chr2:174750024 [GRCh38]
Chr2:175614752 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.861G>A (p.Thr287=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001456385] |
Chr2:174750087 [GRCh38]
Chr2:175614815 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000877911] |
Chr2:174748652 [GRCh38]
Chr2:175613380 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.525C>T (p.Val175=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000877330] |
Chr2:174754234 [GRCh38]
Chr2:175618962 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.144C>T (p.Val48=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001416600] |
Chr2:174759533 [GRCh38]
Chr2:175624261 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.145G>A (p.Val49Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001055471]|not provided [RCV003145305] |
Chr2:174759532 [GRCh38]
Chr2:175624260 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.572T>C (p.Met191Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003266258] |
Chr2:174753709 [GRCh38]
Chr2:175618437 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001070130] |
Chr2:174754389 [GRCh38]
Chr2:175619117 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.314T>C (p.Ile105Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001060959] |
Chr2:174757596 [GRCh38]
Chr2:175622324 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.118C>A (p.Arg40=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001061031] |
Chr2:174759559 [GRCh38]
Chr2:175624287 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.997C>G (p.Arg333Gly) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000820828] |
Chr2:174749951 [GRCh38]
Chr2:175614679 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.51C>T (p.Leu17=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001437176] |
Chr2:174759626 [GRCh38]
Chr2:175624354 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.546C>T (p.Ser182=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002064815]|not provided [RCV000875505] |
Chr2:174753735 [GRCh38]
Chr2:175618463 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.672C>T (p.His224=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000975818] |
Chr2:174753609 [GRCh38]
Chr2:175618337 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.453C>T (p.Ile151=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001474272] |
Chr2:174754306 [GRCh38]
Chr2:175619034 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.895C>T (p.Leu299=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517283] |
Chr2:174750053 [GRCh38]
Chr2:175614781 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.540+7G>A |
single nucleotide variant |
not provided [RCV000944200] |
Chr2:174754212 [GRCh38]
Chr2:175618940 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000818319] |
Chr2:174764360 [GRCh38]
Chr2:175629088 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1243-76T>G |
single nucleotide variant |
not provided [RCV000839611] |
Chr2:174748331 [GRCh38]
Chr2:175613059 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.43+59G>T |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV001579076]|Lethal multiple pterygium syndrome [RCV001579075]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579077]|not provided [RCV000839856] |
Chr2:174764293 [GRCh38]
Chr2:175629021 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.978T>A (p.His326Gln) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000809174] |
Chr2:174749970 [GRCh38]
Chr2:175614698 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.893T>C (p.Met298Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000815875] |
Chr2:174750055 [GRCh38]
Chr2:175614783 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1003-53A>G |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV001579068]|Lethal multiple pterygium syndrome [RCV001579207]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV001579069]|not provided [RCV000838775] |
Chr2:174748872 [GRCh38]
Chr2:175613600 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1242+139T>G |
single nucleotide variant |
not provided [RCV000838776] |
Chr2:174748441 [GRCh38]
Chr2:175613169 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1243-132C>T |
single nucleotide variant |
not provided [RCV000838777] |
Chr2:174748387 [GRCh38]
Chr2:175613115 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) |
deletion |
Congenital myasthenic syndrome [RCV000825633] |
Chr2:174754378..174754379 [GRCh38]
Chr2:175619106..175619107 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 |
copy number loss |
not provided [RCV000848216] |
Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3 |
pathogenic |
| GRCh37/hg19 2q31.1(chr2:175578577-175617380)x1 |
copy number loss |
not provided [RCV000848586] |
Chr2:175578577..175617380 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.1058C>A (p.Ser353Tyr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000815483] |
Chr2:174748764 [GRCh38]
Chr2:175613492 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1040C>G (p.Ser347Cys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001044659] |
Chr2:174748782 [GRCh38]
Chr2:175613510 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1243-3C>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000821851] |
Chr2:174748258 [GRCh38]
Chr2:175612986 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.539C>T (p.Pro180Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000823158] |
Chr2:174754220 [GRCh38]
Chr2:175618948 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000823195]|not provided [RCV003145208] |
Chr2:174754341 [GRCh38]
Chr2:175619069 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.488G>C (p.Ser163Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000793891] |
Chr2:174754271 [GRCh38]
Chr2:175618999 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001131737]|Lethal multiple pterygium syndrome [RCV000803435] |
Chr2:174748210 [GRCh38]
Chr2:175612938 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.234+296G>A |
single nucleotide variant |
not provided [RCV000826864] |
Chr2:174759035 [GRCh38]
Chr2:175623763 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.*383T>C |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001132647]|Lethal multiple pterygium syndrome [RCV001132646] |
Chr2:174747741 [GRCh38]
Chr2:175612469 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.*466G>C |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001131603]|Lethal multiple pterygium syndrome [RCV001131604] |
Chr2:174747658 [GRCh38]
Chr2:175612386 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.77G>A (p.Arg26His) |
single nucleotide variant |
Inborn genetic diseases [RCV003166377]|Lethal multiple pterygium syndrome [RCV000818601] |
Chr2:174759600 [GRCh38]
Chr2:175624328 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NC_000002.11:g.(?_175612842)_(175629600_?)dup |
duplication |
Lethal multiple pterygium syndrome [RCV000792158] |
Chr2:174748114..174764872 [GRCh38]
Chr2:175612842..175629600 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.657G>C (p.Leu219=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000873212] |
Chr2:174753624 [GRCh38]
Chr2:175618352 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.181A>C (p.Ile61Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000800329] |
Chr2:174759496 [GRCh38]
Chr2:175624224 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.112G>A (p.Val38Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000802203] |
Chr2:174759565 [GRCh38]
Chr2:175624293 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.43+233A>G |
single nucleotide variant |
not provided [RCV000838770] |
Chr2:174764119 [GRCh38]
Chr2:175628847 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.44-236C>T |
single nucleotide variant |
not provided [RCV000838771] |
Chr2:174759869 [GRCh38]
Chr2:175624597 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.235-504A>G |
single nucleotide variant |
not provided [RCV000838772] |
Chr2:174758179 [GRCh38]
Chr2:175622907 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.3:c.235-385C>T |
single nucleotide variant |
not provided [RCV000838773] |
Chr2:175622788 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000810729]|not provided [RCV003145165] |
Chr2:174748580 [GRCh38]
Chr2:175613308 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.548A>C (p.Asp183Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000811022] |
Chr2:174753733 [GRCh38]
Chr2:175618461 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.344+115del |
deletion |
not provided [RCV000838774] |
Chr2:174757451 [GRCh38]
Chr2:175622179 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.235-589G>T |
single nucleotide variant |
not provided [RCV000839700] |
Chr2:174758264 [GRCh38]
Chr2:175622992 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.779-135G>A |
single nucleotide variant |
not provided [RCV000839701] |
Chr2:174750304 [GRCh38]
Chr2:175615032 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34 |
pathogenic |
| NM_000079.4(CHRNA1):c.639C>T (p.Cys213=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001446232] |
Chr2:174753642 [GRCh38]
Chr2:175618370 [GRCh37]
Chr2:2q31.1 |
likely benign |
| GRCh37/hg19 2q31.1(chr2:175578577-175617380)x1 |
copy number loss |
not provided [RCV000849431] |
Chr2:175578577..175617380 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 |
copy number loss |
not provided [RCV000846537] |
Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001229186] |
Chr2:174750104 [GRCh38]
Chr2:175614832 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.1048A>C (p.Lys350Gln) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001210969] |
Chr2:174748774 [GRCh38]
Chr2:175613502 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.562A>C (p.Ser188Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001226333] |
Chr2:174753719 [GRCh38]
Chr2:175618447 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.157G>A (p.Val53Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001240389] |
Chr2:174759520 [GRCh38]
Chr2:175624248 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.955C>T (p.His319Tyr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001223501] |
Chr2:174749993 [GRCh38]
Chr2:175614721 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.547G>A (p.Asp183Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001209753] |
Chr2:174753734 [GRCh38]
Chr2:175618462 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.460C>T (p.His154Tyr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001235661] |
Chr2:174754299 [GRCh38]
Chr2:175619027 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.102C>A (p.Asp34Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001218686] |
Chr2:174759575 [GRCh38]
Chr2:175624303 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001210627]|not provided [RCV003145387] |
Chr2:174753701 [GRCh38]
Chr2:175618429 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.*218C>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001129052]|Lethal multiple pterygium syndrome [RCV001129053]|not provided [RCV001760091] |
Chr2:174747906 [GRCh38]
Chr2:175612634 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001131738]|Lethal multiple pterygium syndrome [RCV001131739] |
Chr2:174748243 [GRCh38]
Chr2:175612971 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.44-1G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003317980] |
Chr2:174759634 [GRCh38]
Chr2:175624362 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.345-130C>T |
single nucleotide variant |
not provided [RCV001567710] |
Chr2:174754544 [GRCh38]
Chr2:175619272 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.344+74G>A |
single nucleotide variant |
not provided [RCV001590247] |
Chr2:174757492 [GRCh38]
Chr2:175622220 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001533178] |
Chr2:174757656 [GRCh38]
Chr2:175622384 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.779-28dup |
duplication |
not provided [RCV001598491] |
Chr2:174750180..174750181 [GRCh38]
Chr2:175614908..175614909 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.779-15_779-12del |
deletion |
not provided [RCV001550326] |
Chr2:174750181..174750184 [GRCh38]
Chr2:175614909..175614912 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NC_000002.12:g.174764700dup |
duplication |
not provided [RCV001612890] |
Chr2:174764691..174764692 [GRCh38]
Chr2:175629419..175629420 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.235-422G>T |
single nucleotide variant |
not provided [RCV001717802] |
Chr2:174758097 [GRCh38]
Chr2:175622825 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1242+143C>G |
single nucleotide variant |
not provided [RCV001649870] |
Chr2:174748437 [GRCh38]
Chr2:175613165 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.44-326GT[20] |
microsatellite |
not provided [RCV001686211] |
Chr2:174759929..174759930 [GRCh38]
Chr2:175624657..175624658 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.190-13dup |
duplication |
Lethal multiple pterygium syndrome [RCV001514577] |
Chr2:174759379..174759380 [GRCh38]
Chr2:175624107..175624108 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.579C>T (p.Ser193=) |
single nucleotide variant |
CHRNA1-related condition [RCV003940749]|Lethal multiple pterygium syndrome [RCV001484658] |
Chr2:174753702 [GRCh38]
Chr2:175618430 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001490179]|not provided [RCV000979356] |
Chr2:174748679 [GRCh38]
Chr2:175613407 [GRCh37]
Chr2:2q31.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000876516]|not provided [RCV003145221] |
Chr2:174748758 [GRCh38]
Chr2:175613486 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.618C>T (p.His206=) |
single nucleotide variant |
not provided [RCV000932268] |
Chr2:174753663 [GRCh38]
Chr2:175618391 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.*499A>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001131602]|Lethal multiple pterygium syndrome [RCV001131601]|not provided [RCV003117777] |
Chr2:174747625 [GRCh38]
Chr2:175612353 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.802T>C (p.Ser268Pro) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001236676] |
Chr2:174750146 [GRCh38]
Chr2:175614874 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.779-1_779insA |
insertion |
Lethal multiple pterygium syndrome [RCV001036947] |
Chr2:174750169..174750170 [GRCh38]
Chr2:175614897..175614898 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001231188] |
Chr2:174757639 [GRCh38]
Chr2:175622367 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.594C>G (p.Ile198Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001214017] |
Chr2:174753687 [GRCh38]
Chr2:175618415 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.530C>A (p.Ala177Asp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001224774] |
Chr2:174754229 [GRCh38]
Chr2:175618957 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.801C>T (p.Ile267=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000935530] |
Chr2:174750147 [GRCh38]
Chr2:175614875 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1003-12_1003-8del |
deletion |
Lethal multiple pterygium syndrome [RCV001438142] |
Chr2:174748827..174748831 [GRCh38]
Chr2:175613555..175613559 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1003-9T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV000911433] |
Chr2:174748828 [GRCh38]
Chr2:175613556 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1002+58C>T |
single nucleotide variant |
not provided [RCV001717801] |
Chr2:174749888 [GRCh38]
Chr2:175614616 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.902C>G (p.Thr301Ser) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV002251248] |
Chr2:174750046 [GRCh38]
Chr2:175614774 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002465071] |
Chr2:174759374 [GRCh38]
Chr2:175624102 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1189G>A (p.Glu397Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633669]|not provided [RCV002469682] |
Chr2:174748633 [GRCh38]
Chr2:175613361 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 |
copy number loss |
2q24 microdeletion syndrome [RCV001263223] |
Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.44-326GT[18] |
microsatellite |
not provided [RCV001619185] |
Chr2:174759929..174759930 [GRCh38]
Chr2:175624657..175624658 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 |
copy number loss |
not provided [RCV001005359] |
Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.44-235G>A |
single nucleotide variant |
not provided [RCV001598335] |
Chr2:174759868 [GRCh38]
Chr2:175624596 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.344+317G>A |
single nucleotide variant |
not provided [RCV001641215] |
Chr2:174757249 [GRCh38]
Chr2:175621977 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001129171]|Lethal multiple pterygium syndrome [RCV001129172] |
Chr2:174750143 [GRCh38]
Chr2:175614871 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003380836]|Lethal multiple pterygium syndrome [RCV001065718]|not provided [RCV003490052] |
Chr2:174754309 [GRCh38]
Chr2:175619037 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.44-326GT[13] |
microsatellite |
not provided [RCV001613797] |
Chr2:174759930..174759933 [GRCh38]
Chr2:175624658..175624661 [GRCh37]
Chr2:2q31.1 |
benign |
| NC_000002.12:g.174764492G>A |
single nucleotide variant |
not provided [RCV001590426] |
Chr2:174764492 [GRCh38]
Chr2:175629220 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.779-14_779-12del |
deletion |
not provided [RCV001696065] |
Chr2:174750181..174750183 [GRCh38]
Chr2:175614909..175614911 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1002+273C>T |
single nucleotide variant |
not provided [RCV001609875] |
Chr2:174749673 [GRCh38]
Chr2:175614401 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.43+216T>C |
single nucleotide variant |
not provided [RCV001612140] |
Chr2:174764136 [GRCh38]
Chr2:175628864 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.43+195C>G |
single nucleotide variant |
not provided [RCV001682052] |
Chr2:174764157 [GRCh38]
Chr2:175628885 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.344+236A>T |
single nucleotide variant |
not provided [RCV001692755] |
Chr2:174757330 [GRCh38]
Chr2:175622058 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.44-326GT[14] |
microsatellite |
not provided [RCV001707042] |
Chr2:174759930..174759931 [GRCh38]
Chr2:175624658..175624659 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.*310C>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001136019]|Lethal multiple pterygium syndrome [RCV001136020] |
Chr2:174747814 [GRCh38]
Chr2:175612542 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001136249]|Lethal multiple pterygium syndrome [RCV001136250] |
Chr2:174759601 [GRCh38]
Chr2:175624329 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001136149]|Lethal multiple pterygium syndrome [RCV001136150] |
Chr2:174749986 [GRCh38]
Chr2:175614714 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.*101C>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001129057]|Lethal multiple pterygium syndrome [RCV001129056] |
Chr2:174748023 [GRCh38]
Chr2:175612751 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001129175]|Lethal multiple pterygium syndrome [RCV001129174] |
Chr2:174753570 [GRCh38]
Chr2:175618298 [GRCh37]
Chr2:2q31.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV001196948] |
Chr2:174753515 [GRCh38]
Chr2:175618243 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001231739]|not provided [RCV003145443] |
Chr2:174748601 [GRCh38]
Chr2:175613329 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1003-3T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001069169] |
Chr2:174748822 [GRCh38]
Chr2:175613550 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.137G>A (p.Arg46His) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001054312] |
Chr2:174759540 [GRCh38]
Chr2:175624268 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001136252]|Lethal multiple pterygium syndrome [RCV001136251]|not provided [RCV001564791] |
Chr2:174764393 [GRCh38]
Chr2:175629121 [GRCh37]
Chr2:2q31.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000079.4(CHRNA1):c.746C>G (p.Thr249Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001036405] |
Chr2:174753535 [GRCh38]
Chr2:175618263 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.*130A>T |
single nucleotide variant |
Congenital myasthenic syndrome [RCV001129055]|Lethal multiple pterygium syndrome [RCV001129054] |
Chr2:174747994 [GRCh38]
Chr2:175612722 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.189+4A>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001233552] |
Chr2:174759484 [GRCh38]
Chr2:175624212 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.706G>A (p.Val236Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001048554] |
Chr2:174753575 [GRCh38]
Chr2:175618303 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001879969]|Pleural effusion [RCV001257364] |
Chr2:174759558 [GRCh38]
Chr2:175624286 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.44-326GT[16] |
microsatellite |
not provided [RCV001641860] |
Chr2:174759929..174759930 [GRCh38]
Chr2:175624657..175624658 [GRCh37]
Chr2:2q31.1 |
benign |
| NC_000002.11:g.(?_175612842)_(175629600_?)dup |
duplication |
Lethal multiple pterygium syndrome [RCV001313156] |
Chr2:175612842..175629600 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.345-7A>G |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001299114] |
Chr2:174754421 [GRCh38]
Chr2:175619149 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1162A>C (p.Lys388Gln) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001296854] |
Chr2:174748660 [GRCh38]
Chr2:175613388 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) |
deletion |
Lethal multiple pterygium syndrome [RCV003516662] |
Chr2:174748743 [GRCh38]
Chr2:175613471 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.905T>A (p.Met302Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001359757] |
Chr2:174750043 [GRCh38]
Chr2:175614771 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.189+18G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001422440] |
Chr2:174759470 [GRCh38]
Chr2:175624198 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.439T>C (p.Tyr147His) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001349741] |
Chr2:174754320 [GRCh38]
Chr2:175619048 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1245G>A (p.Ala415=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001373709] |
Chr2:174748253 [GRCh38]
Chr2:175612981 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.419C>T (p.Pro140Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001364105] |
Chr2:174754340 [GRCh38]
Chr2:175619068 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1266T>A (p.Val422=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001336627] |
Chr2:174748232 [GRCh38]
Chr2:175612960 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.7C>T (p.Pro3Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001347114] |
Chr2:174764388 [GRCh38]
Chr2:175629116 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1003-10T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001361484] |
Chr2:174748829 [GRCh38]
Chr2:175613557 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1045A>G (p.Met349Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001315163] |
Chr2:174748777 [GRCh38]
Chr2:175613505 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.838A>G (p.Ile280Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001362231] |
Chr2:174750110 [GRCh38]
Chr2:175614838 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| 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_000079.4(CHRNA1):c.454G>A (p.Val152Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001319744] |
Chr2:174754305 [GRCh38]
Chr2:175619033 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.841G>A (p.Val281Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001366275]|not provided [RCV003145626] |
Chr2:174750107 [GRCh38]
Chr2:175614835 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.600G>A (p.Glu200=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001394580] |
Chr2:174753681 [GRCh38]
Chr2:175618409 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.280G>A (p.Gly94Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001365451] |
Chr2:174757630 [GRCh38]
Chr2:175622358 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.901A>G (p.Thr301Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001308087] |
Chr2:174750047 [GRCh38]
Chr2:175614775 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.124G>T (p.Val42Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001365871] |
Chr2:174759553 [GRCh38]
Chr2:175624281 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) |
copy number loss |
3-4 finger syndactyly [RCV001352646] |
Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002561292]|Lethal multiple pterygium syndrome [RCV001468398] |
Chr2:174748638 [GRCh38]
Chr2:175613366 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.675C>T (p.Phe225=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001426988] |
Chr2:174753606 [GRCh38]
Chr2:175618334 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.642C>T (p.Pro214=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001461230] |
Chr2:174753639 [GRCh38]
Chr2:175618367 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.942C>T (p.Ile314=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001449020] |
Chr2:174750006 [GRCh38]
Chr2:175614734 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NC_000002.11:g.(?_175612832)_(175619162_?)del |
deletion |
Lethal multiple pterygium syndrome [RCV001390370] |
Chr2:175612832..175619162 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.372G>A (p.Lys124=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001445688] |
Chr2:174754387 [GRCh38]
Chr2:175619115 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.44-9C>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001411560] |
Chr2:174759642 [GRCh38]
Chr2:175624370 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.327C>T (p.Asp109=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001409201] |
Chr2:174757583 [GRCh38]
Chr2:175622311 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.279C>T (p.Gly93=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001502339] |
Chr2:174757631 [GRCh38]
Chr2:175622359 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.344+282G>A |
single nucleotide variant |
not provided [RCV001645302] |
Chr2:174757284 [GRCh38]
Chr2:175622012 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.927C>A (p.Ile309=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001502727] |
Chr2:174750021 [GRCh38]
Chr2:175614749 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1003-8T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001487037] |
Chr2:174748827 [GRCh38]
Chr2:175613555 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NC_000002.12:g.174764675G>A |
single nucleotide variant |
not provided [RCV001612086] |
Chr2:174764675 [GRCh38]
Chr2:175629403 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.344+236dup |
duplication |
not provided [RCV001616919] |
Chr2:174757319..174757320 [GRCh38]
Chr2:175622047..175622048 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001497670] |
Chr2:174748628 [GRCh38]
Chr2:175613356 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.945C>T (p.Val315=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001470529] |
Chr2:174750003 [GRCh38]
Chr2:175614731 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.324A>C (p.Pro108=) |
single nucleotide variant |
CHRNA1-related condition [RCV003930976]|Lethal multiple pterygium syndrome [RCV001469228] |
Chr2:174757586 [GRCh38]
Chr2:175622314 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.813G>C (p.Leu271=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001479104] |
Chr2:174750135 [GRCh38]
Chr2:175614863 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.292dup (p.Ile98fs) |
duplication |
Lethal multiple pterygium syndrome [RCV001384441] |
Chr2:174757617..174757618 [GRCh38]
Chr2:175622345..175622346 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.44-10G>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001424692] |
Chr2:174759643 [GRCh38]
Chr2:175624371 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.778+145C>T |
single nucleotide variant |
not provided [RCV001732728] |
Chr2:174753358 [GRCh38]
Chr2:175618086 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-518C>G |
single nucleotide variant |
not provided [RCV001732264] |
Chr2:174758193 [GRCh38]
Chr2:175622921 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-8del |
deletion |
not provided [RCV001786288] |
Chr2:174757683 [GRCh38]
Chr2:175622411 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.166C>T (p.Gln56Ter) |
single nucleotide variant |
not provided [RCV001780776] |
Chr2:174759511 [GRCh38]
Chr2:175624239 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.779G>A (p.Gly260Glu) |
single nucleotide variant |
not provided [RCV001779556] |
Chr2:174750169 [GRCh38]
Chr2:175614897 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1002+120C>T |
single nucleotide variant |
not provided [RCV001733126] |
Chr2:174749826 [GRCh38]
Chr2:175614554 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.779-2A>C |
single nucleotide variant |
not provided [RCV001780778] |
Chr2:174750171 [GRCh38]
Chr2:175614899 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.772G>C (p.Asp258His) |
single nucleotide variant |
not provided [RCV001786941] |
Chr2:174753509 [GRCh38]
Chr2:175618237 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.779-124C>T |
single nucleotide variant |
not provided [RCV001764027] |
Chr2:174750293 [GRCh38]
Chr2:175615021 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.265C>T (p.Pro89Ser) |
single nucleotide variant |
not provided [RCV001779615] |
Chr2:174757645 [GRCh38]
Chr2:175622373 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.338A>G (p.Tyr113Cys) |
single nucleotide variant |
not provided [RCV001758727] |
Chr2:174757572 [GRCh38]
Chr2:175622300 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.344+6C>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001896688] |
Chr2:174757560 [GRCh38]
Chr2:175622288 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.273C>G (p.Asp91Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002025041] |
Chr2:174757637 [GRCh38]
Chr2:175622365 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1171G>A (p.Glu391Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001915501] |
Chr2:174748651 [GRCh38]
Chr2:175613379 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.640C>T (p.Pro214Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002009007] |
Chr2:174753641 [GRCh38]
Chr2:175618369 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.860C>T (p.Thr287Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002043782] |
Chr2:174750088 [GRCh38]
Chr2:175614816 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) |
copy number gain |
not specified [RCV002053265] |
Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35 |
pathogenic |
| NM_000079.4(CHRNA1):c.399T>A (p.Thr133=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002002037] |
Chr2:174754360 [GRCh38]
Chr2:175619088 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.1003-12T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001968345] |
Chr2:174748831 [GRCh38]
Chr2:175613559 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.984G>A (p.Met328Ile) |
single nucleotide variant |
CHRNA1-related condition [RCV003401890]|Lethal multiple pterygium syndrome [RCV001913937] |
Chr2:174749964 [GRCh38]
Chr2:175614692 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.118C>T (p.Arg40Trp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001910156] |
Chr2:174759559 [GRCh38]
Chr2:175624287 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV003984863]|Lethal multiple pterygium syndrome [RCV001844328] |
Chr2:174753596 [GRCh38]
Chr2:175618324 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003852752] |
Chr2:174748216 [GRCh38]
Chr2:175612944 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3 |
copy number gain |
not provided [RCV001825257] |
Chr2:174673094..177275625 [GRCh37]
Chr2:2q31.1 |
not provided |
| NM_000079.4(CHRNA1):c.52G>A (p.Val18Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002035067] |
Chr2:174759625 [GRCh38]
Chr2:175624353 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.745A>C (p.Thr249Pro) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002046990] |
Chr2:174753536 [GRCh38]
Chr2:175618264 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003303242]|Lethal multiple pterygium syndrome [RCV001944867]|Lethal multiple pterygium syndrome [RCV002478159] |
Chr2:174750013 [GRCh38]
Chr2:175614741 [GRCh37]
Chr2:2q31.1 |
pathogenic|uncertain significance |
| NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001944109]|not provided [RCV003146381] |
Chr2:174748640 [GRCh38]
Chr2:175613368 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002038310]|Myasthenic syndrome, congenital, 1B, fast-channel [RCV003339902] |
Chr2:174757612 [GRCh38]
Chr2:175622340 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.919G>A (p.Ala307Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001886931] |
Chr2:174750029 [GRCh38]
Chr2:175614757 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.878T>C (p.Leu293Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002027053] |
Chr2:174750070 [GRCh38]
Chr2:175614798 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1334T>A (p.Val445Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001989920] |
Chr2:174748164 [GRCh38]
Chr2:175612892 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001923052]|not provided [RCV003146348] |
Chr2:174748816 [GRCh38]
Chr2:175613544 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001934247] |
Chr2:174757661 [GRCh38]
Chr2:175622389 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.44-5C>G |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001994063] |
Chr2:174759638 [GRCh38]
Chr2:175624366 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.548A>T (p.Asp183Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002554243]|Lethal multiple pterygium syndrome [RCV001903313] |
Chr2:174753733 [GRCh38]
Chr2:175618461 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1097T>C (p.Ile366Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002553477]|Lethal multiple pterygium syndrome [RCV001902744] |
Chr2:174748725 [GRCh38]
Chr2:175613453 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.283G>A (p.Val95Met) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002016509] |
Chr2:174757627 [GRCh38]
Chr2:175622355 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.750C>T (p.Gly250=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002013986] |
Chr2:174753531 [GRCh38]
Chr2:175618259 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.1047G>A (p.Met349Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001979966] |
Chr2:174748775 [GRCh38]
Chr2:175613503 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.177G>C (p.Gln59His) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002030693]|not provided [RCV003146452] |
Chr2:174759500 [GRCh38]
Chr2:175624228 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.514G>A (p.Asp172Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001951932] |
Chr2:174754245 [GRCh38]
Chr2:175618973 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.484T>C (p.Cys162Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001997738] |
Chr2:174754275 [GRCh38]
Chr2:175619003 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.451A>T (p.Ile151Phe) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001954632]|See cases [RCV002252725] |
Chr2:174754308 [GRCh38]
Chr2:175619036 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.653A>C (p.Tyr218Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001922699] |
Chr2:174753628 [GRCh38]
Chr2:175618356 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1244C>T (p.Ala415Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001991513] |
Chr2:174748254 [GRCh38]
Chr2:175612982 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1318A>G (p.Ile440Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001902275] |
Chr2:174748180 [GRCh38]
Chr2:175612908 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NC_000002.11:g.(?_175612852)_(175629122_?)del |
deletion |
Lethal multiple pterygium syndrome [RCV001960680] |
Chr2:175612852..175629122 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.902C>A (p.Thr301Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001898887] |
Chr2:174750046 [GRCh38]
Chr2:175614774 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.449T>G (p.Ile150Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002548785]|Lethal multiple pterygium syndrome [RCV002018496] |
Chr2:174754310 [GRCh38]
Chr2:175619038 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001885945]|not provided [RCV003146297] |
Chr2:174748234 [GRCh38]
Chr2:175612962 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.824T>C (p.Val275Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001903885] |
Chr2:174750124 [GRCh38]
Chr2:175614852 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1053A>C (p.Arg351Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001881361] |
Chr2:174748769 [GRCh38]
Chr2:175613497 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1021C>T (p.Pro341Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV001922732] |
Chr2:174748801 [GRCh38]
Chr2:175613529 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002168572] |
Chr2:174748169 [GRCh38]
Chr2:175612897 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.344+14A>G |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002170149] |
Chr2:174757552 [GRCh38]
Chr2:175622280 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.345-14T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002127633] |
Chr2:174754428 [GRCh38]
Chr2:175619156 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003161436]|Lethal multiple pterygium syndrome [RCV002208032]|not provided [RCV003146512] |
Chr2:174753605 [GRCh38]
Chr2:175618333 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000079.4(CHRNA1):c.235-9dup |
duplication |
Lethal multiple pterygium syndrome [RCV002090143] |
Chr2:174757683..174757684 [GRCh38]
Chr2:175622411..175622412 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.648C>G (p.Thr216=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002108505] |
Chr2:174753633 [GRCh38]
Chr2:175618361 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.344+12G>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002088991] |
Chr2:174757554 [GRCh38]
Chr2:175622282 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.436_437insTG (p.Ser146fs) |
insertion |
not specified [RCV002247078] |
Chr2:174754322..174754323 [GRCh38]
Chr2:175619050..175619051 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.840C>T (p.Ile280=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002205751] |
Chr2:174750108 [GRCh38]
Chr2:175614836 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-18G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002088741] |
Chr2:174757693 [GRCh38]
Chr2:175622421 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.189+16T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002125576] |
Chr2:174759472 [GRCh38]
Chr2:175624200 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.541-12T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002197424] |
Chr2:174753752 [GRCh38]
Chr2:175618480 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1002+17C>G |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002111662] |
Chr2:174749929 [GRCh38]
Chr2:175614657 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.345-19T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002108501] |
Chr2:174754433 [GRCh38]
Chr2:175619161 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002165232] |
Chr2:174748184 [GRCh38]
Chr2:175612912 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.189+7_189+8insCCT |
insertion |
Lethal multiple pterygium syndrome [RCV002131528] |
Chr2:174759480..174759481 [GRCh38]
Chr2:175624208..175624209 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.330T>C (p.Leu110=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002093576] |
Chr2:174757580 [GRCh38]
Chr2:175622308 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.303T>C (p.Pro101=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002148261] |
Chr2:174757607 [GRCh38]
Chr2:175622335 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002171376] |
Chr2:174748229 [GRCh38]
Chr2:175612957 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.735C>T (p.Phe245=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002093168] |
Chr2:174753546 [GRCh38]
Chr2:175618274 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.63C>T (p.Ser21=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002202431] |
Chr2:174759614 [GRCh38]
Chr2:175624342 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-19T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002135388] |
Chr2:174757694 [GRCh38]
Chr2:175622422 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.778+18G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002220537] |
Chr2:174753485 [GRCh38]
Chr2:175618213 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.541-15del |
deletion |
Lethal multiple pterygium syndrome [RCV002181777] |
Chr2:174753755 [GRCh38]
Chr2:175618483 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.270T>C (p.Asp90=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002200835] |
Chr2:174757640 [GRCh38]
Chr2:175622368 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.190-18C>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002199620] |
Chr2:174759393 [GRCh38]
Chr2:175624121 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1284C>T (p.His428=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002104127] |
Chr2:174748214 [GRCh38]
Chr2:175612942 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1003-9T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002122454] |
Chr2:174748828 [GRCh38]
Chr2:175613556 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.828C>T (p.Phe276=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002119730] |
Chr2:174750120 [GRCh38]
Chr2:175614848 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.222del (p.Arg75fs) |
deletion |
Lethal multiple pterygium syndrome [RCV003110599] |
Chr2:174759343 [GRCh38]
Chr2:175624071 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003111868] |
Chr2:174749959 [GRCh38]
Chr2:175614687 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NC_000002.11:g.(?_175427275)_(175629122_?)dup |
duplication |
Wiskott-Aldrich syndrome 2 [RCV003122429] |
Chr2:175427275..175629122 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| Single allele |
deletion |
Split hand-foot malformation 5 [RCV002264898] |
Chr2:171524396..178694337 [GRCh37]
Chr2:2q31.1-31.2 |
pathogenic |
| NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002266219] |
Chr2:174764394 [GRCh38]
Chr2:175629122 [GRCh37]
Chr2:2q31.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 |
copy number loss |
not provided [RCV002474570] |
Chr2:175143352..180999636 [GRCh37]
Chr2:2q31.1-31.3 |
pathogenic |
| NM_000079.4(CHRNA1):c.150G>T (p.Glu50Asp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002303485] |
Chr2:174759527 [GRCh38]
Chr2:175624255 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.136C>G (p.Arg46Gly) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002295563] |
Chr2:174759541 [GRCh38]
Chr2:175624269 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.70G>A (p.Glu24Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002300191] |
Chr2:174759607 [GRCh38]
Chr2:175624335 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.541-17del |
deletion |
Lethal multiple pterygium syndrome [RCV002858428] |
Chr2:174753757 [GRCh38]
Chr2:175618485 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-14G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002968004] |
Chr2:174757689 [GRCh38]
Chr2:175622417 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1003-6T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002615550] |
Chr2:174748825 [GRCh38]
Chr2:175613553 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.387C>T (p.Leu129=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002908532] |
Chr2:174754372 [GRCh38]
Chr2:175619100 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.670C>T (p.His224Tyr) |
single nucleotide variant |
not provided [RCV002481198] |
Chr2:174753611 [GRCh38]
Chr2:175618339 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV003441150]|Lethal multiple pterygium syndrome [RCV002819969] |
Chr2:174753535 [GRCh38]
Chr2:175618263 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.516C>T (p.Asp172=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002970941]|not provided [RCV003435847] |
Chr2:174754243 [GRCh38]
Chr2:175618971 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1002+14C>G |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002861711] |
Chr2:174749932 [GRCh38]
Chr2:175614660 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1242+11T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002947526] |
Chr2:174748569 [GRCh38]
Chr2:175613297 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1002+10G>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002785770] |
Chr2:174749936 [GRCh38]
Chr2:175614664 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003055166]|not provided [RCV003491202] |
Chr2:174757600 [GRCh38]
Chr2:175622328 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.811C>A (p.Leu271Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002706688]|Lethal multiple pterygium syndrome [RCV002706687] |
Chr2:174750137 [GRCh38]
Chr2:175614865 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.510C>G (p.Thr170=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002825075] |
Chr2:174754249 [GRCh38]
Chr2:175618977 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002948314] |
Chr2:174754308 [GRCh38]
Chr2:175619036 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.43+11G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002571869] |
Chr2:174764341 [GRCh38]
Chr2:175629069 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.345-3T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003053161] |
Chr2:174754417 [GRCh38]
Chr2:175619145 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002638129] |
Chr2:174749950 [GRCh38]
Chr2:175614678 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.75C>T (p.Thr25=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002756974] |
Chr2:174759602 [GRCh38]
Chr2:175624330 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.876C>A (p.Pro292=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002592932] |
Chr2:174750072 [GRCh38]
Chr2:175614800 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1002+14C>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002570018] |
Chr2:174749932 [GRCh38]
Chr2:175614660 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.345-7del |
deletion |
Lethal multiple pterygium syndrome [RCV003021442] |
Chr2:174754421 [GRCh38]
Chr2:175619149 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002953297] |
Chr2:174748699 [GRCh38]
Chr2:175613427 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.954A>C (p.Thr318=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002695266] |
Chr2:174749994 [GRCh38]
Chr2:175614722 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1242+17G>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002594684] |
Chr2:174748563 [GRCh38]
Chr2:175613291 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002917447] |
Chr2:174753700 [GRCh38]
Chr2:175618428 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.561G>A (p.Leu187=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002701088] |
Chr2:174753720 [GRCh38]
Chr2:175618448 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.348A>C (p.Ala116=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002894832] |
Chr2:174754411 [GRCh38]
Chr2:175619139 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003084257] |
Chr2:174754383 [GRCh38]
Chr2:175619111 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002914709] |
Chr2:174750074 [GRCh38]
Chr2:175614802 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.463T>C (p.Phe155Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002954058] |
Chr2:174754296 [GRCh38]
Chr2:175619024 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.80T>C (p.Leu27Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002891326] |
Chr2:174759597 [GRCh38]
Chr2:175624325 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002890290] |
Chr2:174748694 [GRCh38]
Chr2:175613422 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.431T>C (p.Phe144Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002829505] |
Chr2:174754328 [GRCh38]
Chr2:175619056 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.18C>T (p.Leu6=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002982603] |
Chr2:174764377 [GRCh38]
Chr2:175629105 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003059415] |
Chr2:174750061 [GRCh38]
Chr2:175614789 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003005261] |
Chr2:174748671 [GRCh38]
Chr2:175613399 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.136C>T (p.Arg46Cys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002745486] |
Chr2:174759541 [GRCh38]
Chr2:175624269 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.708C>T (p.Val236=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002644454] |
Chr2:174753573 [GRCh38]
Chr2:175618301 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.561G>C (p.Leu187=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002958345] |
Chr2:174753720 [GRCh38]
Chr2:175618448 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002985595] |
Chr2:174748235 [GRCh38]
Chr2:175612963 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002919012] |
Chr2:174750160 [GRCh38]
Chr2:175614888 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1016C>T (p.Thr339Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002919095] |
Chr2:174748806 [GRCh38]
Chr2:175613534 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002626456] |
Chr2:174748616 [GRCh38]
Chr2:175613344 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.540G>A (p.Pro180=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002628425] |
Chr2:174754219 [GRCh38]
Chr2:175618947 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003010364]|not provided [RCV003146728] |
Chr2:174748155 [GRCh38]
Chr2:175612883 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002671180] |
Chr2:174748751 [GRCh38]
Chr2:175613479 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003010003] |
Chr2:174764381 [GRCh38]
Chr2:175629109 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.345-63_403del |
deletion |
Lethal multiple pterygium syndrome [RCV003043768] |
Chr2:174754356..174754477 [GRCh38]
Chr2:175619084..175619205 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.795G>A (p.Leu265=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002806449] |
Chr2:174750153 [GRCh38]
Chr2:175614881 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.778+4G>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003086704] |
Chr2:174753499 [GRCh38]
Chr2:175618227 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.43+20G>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002899265] |
Chr2:174764332 [GRCh38]
Chr2:175629060 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.23T>C (p.Leu8Pro) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002939068] |
Chr2:174764372 [GRCh38]
Chr2:175629100 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1243-7C>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003093349] |
Chr2:174748262 [GRCh38]
Chr2:175612990 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.925A>C (p.Ile309Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002814333] |
Chr2:174750023 [GRCh38]
Chr2:175614751 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002586594] |
Chr2:174748250 [GRCh38]
Chr2:175612978 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002634106] |
Chr2:174748810 [GRCh38]
Chr2:175613538 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003067887] |
Chr2:174748253 [GRCh38]
Chr2:175612981 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV002612548] |
Chr2:174753677 [GRCh38]
Chr2:175618405 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003164856]|Lethal multiple pterygium syndrome [RCV003633676]|not provided [RCV003144920] |
Chr2:174754398 [GRCh38]
Chr2:175619126 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.710A>G (p.Asn237Ser) |
single nucleotide variant |
not provided [RCV003144918] |
Chr2:174753571 [GRCh38]
Chr2:175618299 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633677]|not provided [RCV003144921] |
Chr2:174748692 [GRCh38]
Chr2:175613420 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.850A>C (p.Ile284Leu) |
single nucleotide variant |
not provided [RCV003144923] |
Chr2:174750098 [GRCh38]
Chr2:175614826 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1278G>C (p.Met426Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003215674] |
Chr2:174748220 [GRCh38]
Chr2:175612948 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.235-270G>T |
single nucleotide variant |
not provided [RCV003322074] |
Chr2:174757945 [GRCh38]
Chr2:175622673 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe) |
single nucleotide variant |
Congenital myasthenic syndrome 1A [RCV003340790] |
Chr2:174748819 [GRCh38]
Chr2:175613547 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003874074] |
Chr2:174753620 [GRCh38]
Chr2:175618348 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.-6T>C |
single nucleotide variant |
not provided [RCV003482651] |
Chr2:174764400 [GRCh38]
Chr2:175629128 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1319T>C (p.Ile440Thr) |
single nucleotide variant |
CHRNA1-related condition [RCV003414170] |
Chr2:174748179 [GRCh38]
Chr2:175612907 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.183C>G (p.Ile61Met) |
single nucleotide variant |
CHRNA1-related condition [RCV003402809] |
Chr2:174759494 [GRCh38]
Chr2:175624222 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1002+5del |
deletion |
Lethal multiple pterygium syndrome [RCV003518048] |
Chr2:174749941 [GRCh38]
Chr2:175614669 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517787] |
Chr2:174754229 [GRCh38]
Chr2:175618957 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003876447] |
Chr2:174748652 [GRCh38]
Chr2:175613380 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003516994] |
Chr2:174748616 [GRCh38]
Chr2:175613344 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.411G>A (p.Thr137=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517668] |
Chr2:174754348 [GRCh38]
Chr2:175619076 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.943G>A (p.Val315Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003518425] |
Chr2:174750005 [GRCh38]
Chr2:175614733 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs) |
duplication |
Lethal multiple pterygium syndrome [RCV003518162] |
Chr2:174748742..174748743 [GRCh38]
Chr2:175613470..175613471 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000079.4(CHRNA1):c.540+16A>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517122] |
Chr2:174754203 [GRCh38]
Chr2:175618931 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.319C>A (p.Arg107Ser) |
single nucleotide variant |
not provided [RCV003490560] |
Chr2:174757591 [GRCh38]
Chr2:175622319 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.540+17T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003516954] |
Chr2:174754202 [GRCh38]
Chr2:175618930 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003516701] |
Chr2:174754324 [GRCh38]
Chr2:175619052 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.556G>C (p.Asp186His) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517968] |
Chr2:174753725 [GRCh38]
Chr2:175618453 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003831211] |
Chr2:174757636 [GRCh38]
Chr2:175622364 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.459C>T (p.Thr153=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003516892] |
Chr2:174754300 [GRCh38]
Chr2:175619028 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.778+2T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517021] |
Chr2:174753501 [GRCh38]
Chr2:175618229 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003517825] |
Chr2:174748191 [GRCh38]
Chr2:175612919 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634800] |
Chr2:174748626 [GRCh38]
Chr2:175613354 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003834866] |
Chr2:174748685 [GRCh38]
Chr2:175613413 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633840] |
Chr2:174748754 [GRCh38]
Chr2:175613482 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.717C>T (p.Ile239=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634024] |
Chr2:174753564 [GRCh38]
Chr2:175618292 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.235-8G>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634176] |
Chr2:174757683 [GRCh38]
Chr2:175622411 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.591G>A (p.Val197=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634066] |
Chr2:174753690 [GRCh38]
Chr2:175618418 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.190-12T>A |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634402] |
Chr2:174759387 [GRCh38]
Chr2:175624115 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633282] |
Chr2:174748607 [GRCh38]
Chr2:175613335 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634632] |
Chr2:174748150 [GRCh38]
Chr2:175612878 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633352] |
Chr2:174753725 [GRCh38]
Chr2:175618453 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.235-20C>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633044] |
Chr2:174757695 [GRCh38]
Chr2:175622423 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634389] |
Chr2:174748811 [GRCh38]
Chr2:175613539 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.541-13C>T |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633789] |
Chr2:174753753 [GRCh38]
Chr2:175618481 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003635116] |
Chr2:174757626 [GRCh38]
Chr2:175622354 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633219] |
Chr2:174749946 [GRCh38]
Chr2:175614674 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003635167] |
Chr2:174753627 [GRCh38]
Chr2:175618355 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634558] |
Chr2:174748767 [GRCh38]
Chr2:175613495 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003812175] |
Chr2:174748591 [GRCh38]
Chr2:175613319 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633975] |
Chr2:174748236 [GRCh38]
Chr2:175612964 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634075] |
Chr2:174754343 [GRCh38]
Chr2:175619071 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634690] |
Chr2:174759522 [GRCh38]
Chr2:175624250 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634645] |
Chr2:174754335 [GRCh38]
Chr2:175619063 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633004] |
Chr2:174748231 [GRCh38]
Chr2:175612959 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.344+17G>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633008] |
Chr2:174757549 [GRCh38]
Chr2:175622277 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.141G>A (p.Gln47=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633903] |
Chr2:174759536 [GRCh38]
Chr2:175624264 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.196G>A (p.Val66Ile) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003518669] |
Chr2:174759369 [GRCh38]
Chr2:175624097 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003633161] |
Chr2:174750121 [GRCh38]
Chr2:175614849 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.344+15T>C |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634173] |
Chr2:174757551 [GRCh38]
Chr2:175622279 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003634193] |
Chr2:174754275 [GRCh38]
Chr2:175619003 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1003-8dup |
duplication |
Lethal multiple pterygium syndrome [RCV003633291] |
Chr2:174748826..174748827 [GRCh38]
Chr2:175613554..175613555 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000079.4(CHRNA1):c.279C>G (p.Gly93=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003857495] |
Chr2:174757631 [GRCh38]
Chr2:175622359 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.585G>A (p.Glu195=) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003821185] |
Chr2:174753696 [GRCh38]
Chr2:175618424 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg) |
single nucleotide variant |
Lethal multiple pterygium syndrome [RCV003857679] |
Chr2:174750088 [GRCh38]
Chr2:175614816 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.411G>C (p.Thr137=) |
single nucleotide variant |
CHRNA1-related condition [RCV003982790] |
Chr2:174754348 [GRCh38]
Chr2:175619076 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.1153C>A (p.Pro385Thr) |
single nucleotide variant |
CHRNA1-related condition [RCV003896359] |
Chr2:174748669 [GRCh38]
Chr2:175613397 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.456C>T (p.Val152=) |
single nucleotide variant |
CHRNA1-related condition [RCV003901596] |
Chr2:174754303 [GRCh38]
Chr2:175619031 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000079.4(CHRNA1):c.234G>A (p.Gln78=) |
single nucleotide variant |
CHRNA1-related condition [RCV003911472] |
Chr2:174759331 [GRCh38]
Chr2:175624059 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000079.4(CHRNA1):c.1312T>C (p.Cys438Arg) |
single nucleotide variant |
not provided [RCV002505957] |
Chr2:174748186 [GRCh38]
Chr2:175612914 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 |
copy number gain |
not provided [RCV000740654] |
Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2 |
pathogenic |
