NM_001127701.1(SERPINA1):c.710T= (p.Val237=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362590]|PI M1-ALA213 [RCV000019555]|PI, M1V [RCV000019556] |
Chr14:94381078 [GRCh38] Chr14:94847415 [GRCh37] Chr14:14q32.13 |
pathogenic|benign|other |
PI B(ALHAMBRA) |
variation |
PI B(ALHAMBRA) [RCV000019560] |
Chr14:14q32.1 |
other |
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148874]|PI P(ST. ALBANS) [RCV000019562]|SERPINA1-related disorder [RCV004748529]|not specified [RCV000178751] |
Chr14:94378613 [GRCh38] Chr14:94844950 [GRCh37] Chr14:14q32.13 |
benign|likely benign|uncertain significance|other |
PI M(MALTON) |
deletion |
PI M(MALTON) [RCV000019568] |
Chr14:14q32.1 |
other |
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512621]|not provided [RCV000597384] |
Chr14:94382724 [GRCh38] Chr14:94849061 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance|other |
PI NULL(HONG KONG 2) |
variation |
PI NULL(HONG KONG 2) [RCV000019573] |
Chr14:14q32.1 |
other |
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000169162]|PI NULL(BELLINGHAM) [RCV000019581]|PI Q0(BELLINGHAM) [RCV000019582]|not provided [RCV001528835] |
Chr14:94381067 [GRCh38] Chr14:94847404 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
PI NULL(PROCIDA) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000203601]|PI NULL(PROCIDA) [RCV000019584] |
Chr14:14q32.1 |
pathogenic|other |
PI NULL(HONG KONG 1) |
microsatellite |
Alpha-1-antitrypsin deficiency [RCV000201857]|PI NULL(HONG KONG 1) [RCV000019587]|PI Q0(HONG KONG 1) [RCV000019588] |
Chr14:94379501..94379502 [GRCh38] Chr14:94845838..94845839 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
PI NULL(BOLTON) |
deletion |
PI NULL(BOLTON) [RCV000019589]|PI Q0(BOLTON) [RCV000019590] |
Chr14:14q32.1 |
other |
PI NULL(RIEDENBURG) |
deletion |
PI NULL(RIEDENBURG) [RCV000019603] |
Chr14:94376746..94388603 [GRCh38] Chr14:14q32.13 |
other |
PI KALSHEKER-POLLER |
single nucleotide variant |
PI KALSHEKER-POLLER [RCV000019604] |
Chr14:14q32.1 |
other |
PI NULL(WEST) |
single nucleotide variant |
PI NULL(WEST) [RCV000019606]|PI Q0(WEST) [RCV000019607] |
Chr14:14q32.1 |
other |
NM_000295.5(SERPINA1):c.890C>A (p.Thr297Asn) |
single nucleotide variant |
not provided [RCV000729797] |
Chr14:94380898 [GRCh38] Chr14:94847235 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001414765]|not provided [RCV000729855] |
Chr14:94382788 [GRCh38] Chr14:94849125 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.348C>G (p.Ile116Met) |
single nucleotide variant |
not provided [RCV000728123] |
Chr14:94382890 [GRCh38] Chr14:94849227 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002485855]|SERPINA1-related disorder [RCV003918187]|not provided [RCV000728194] |
Chr14:94382994 [GRCh38] Chr14:94849331 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.73G>A (p.Glu25Lys) |
single nucleotide variant |
not provided [RCV000728979] |
Chr14:94383165 [GRCh38] Chr14:94849502 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.327G>A (p.Thr109=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117501]|not provided [RCV000729303] |
Chr14:94382911 [GRCh38] Chr14:94849248 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001078757]|not provided [RCV000735034] |
Chr14:94382902 [GRCh38] Chr14:94849239 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000406073]|Inborn genetic diseases [RCV002362589]|PI M1-ALA213 [RCV000019553]|PI, M1A [RCV000019554]|not provided [RCV001701482]|not specified [RCV000151834] |
Chr14:94381078 [GRCh38] Chr14:94381078..94381079 [GRCh38] Chr14:94847415 [GRCh37] Chr14:94847415..94847416 [GRCh37] Chr14:14q32.13 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|other |
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000310904]|Inborn genetic diseases [RCV002345248]|PI M2 [RCV000019557]|PI M4 [RCV000019559]|not provided [RCV001636605]|not specified [RCV000155576] |
Chr14:94382864 [GRCh38] Chr14:94382864..94382865 [GRCh38] Chr14:94849201 [GRCh37] Chr14:94849201..94849202 [GRCh37] Chr14:14q32.13 |
benign|likely benign|conflicting interpretations of pathogenicity|other |
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000380179]|Inborn genetic diseases [RCV002345249]|PI M3 [RCV000019558]|not provided [RCV001650837]|not specified [RCV000155574] |
Chr14:94378506 [GRCh38] Chr14:94844843 [GRCh37] Chr14:14q32.13 |
benign|likely benign|conflicting interpretations of pathogenicity|other |
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148879]|Inborn genetic diseases [RCV000622899]|PI F [RCV000019561]|SERPINA1-related disorder [RCV004724750]|not provided [RCV000727618]|not specified [RCV000151833] |
Chr14:94381049 [GRCh38] Chr14:94381049..94381050 [GRCh38] Chr14:94847386 [GRCh37] Chr14:94847386..94847387 [GRCh37] Chr14:14q32.13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512615]|PI X [RCV000019563]|not provided [RCV002260969] |
Chr14:94381106 [GRCh38] Chr14:94847443 [GRCh37] Chr14:14q32.13 |
benign|uncertain significance|other |
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000201867]|PI CHRISTCHURCH [RCV000019564]|SERPINA1-related disorder [RCV003964806]|not provided [RCV000597262] |
Chr14:94378547 [GRCh38] Chr14:94844884 [GRCh37] Chr14:14q32.13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000409001]|Inborn genetic diseases [RCV002336088]|PI M(HEERLEN) [RCV000019565]|SERPINA1-related disorder [RCV003944831]|not provided [RCV000727230] |
Chr14:94378528 [GRCh38] Chr14:94844865 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000201855]|PI M(MINERAL SPRINGS) [RCV000019566] |
Chr14:94382966 [GRCh38] Chr14:94849303 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148877]|Alpha-1-antitrypsin deficiency [RCV002054450]|Chronic obstructive pulmonary disease [RCV001195107]|FRAXE [RCV000194811]|Inborn genetic diseases [RCV000623762]|Neurodevelopmental disorder [RCV002276567]|PI Z [RCV000019567]|PI Z(AUGSBURG) [RCV000019594]|PI Z(TUN) [RCV000019595]|SERPINA1-related disorder [RCV003415721]|See cases [RCV002251912]|Susceptibility to severe coronavirus disease (COVID-19) [RCV002466247]|not provided [RCV000255454] |
Chr14:94378610 [GRCh38] Chr14:94378610..94378611 [GRCh38] Chr14:94844947 [GRCh37] Chr14:94844947..94844948 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|risk factor|uncertain significance|other |
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148878]|Chronic obstructive pulmonary disease [RCV000762932]|Cystic fibrosis [RCV000991136]|Inborn genetic diseases [RCV002371777]|PI S [RCV000019569]|SERPINA1-related disorder [RCV003415722]|Susceptibility to severe coronavirus disease (COVID-19) [RCV002466248]|not provided [RCV000177031]|not specified [RCV001195102] |
Chr14:94380925 [GRCh38] Chr14:94380925..94380926 [GRCh38] Chr14:94847262 [GRCh37] Chr14:94847262..94847263 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|risk factor|uncertain significance|low penetrance|no classifications from unflagged records|other|not provided |
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148880]|PI Z(WREXHAM) [RCV000019570]|not provided [RCV000596635] |
Chr14:94383221 [GRCh38] Chr14:94849558 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance|other |
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000201848]|PI M(PROCIDA) [RCV000019571]|See cases [RCV004584332]|not provided [RCV000729804] |
Chr14:94383044 [GRCh38] Chr14:94849381 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|other |
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148875]|PI I [RCV000019575]|SERPINA1-related disorder [RCV003390693]|not provided [RCV000431149] |
Chr14:94383051 [GRCh38] Chr14:94849388 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000148876]|PI NULL(CARDIFF) [RCV000019577]|PI P(DUARTE) [RCV000019605]|PI P(LOWELL) [RCV000019576]|PI Q0(CARDIFF) [RCV000019578]|SERPINA1-related disorder [RCV003415723]|not provided [RCV000398063] |
Chr14:94380949 [GRCh38] Chr14:94847286 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000019579]|PI Q0(GRANITE FALLS) [RCV000019580] |
Chr14:94382686 [GRCh38] Chr14:94849023 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
NM_001127701.1(SERPINA1):c.1131A>T (p.Leu377Phe) |
single nucleotide variant |
PI NULL(MATTAWA) [RCV000019583] |
Chr14:94378575 [GRCh38] Chr14:94844912 [GRCh37] Chr14:14q32.13 |
other |
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000201860]|Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation [RCV000019591] |
Chr14:94378561 [GRCh38] Chr14:94844898 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512626]|PI V(MUNICH) [RCV000019593] |
Chr14:94383161 [GRCh38] Chr14:94849498 [GRCh37] Chr14:14q32.13 |
benign|other |
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512619]|PI W(BETHESDA) [RCV000019596]|not provided [RCV000734987] |
Chr14:94378628 [GRCh38] Chr14:94844965 [GRCh37] Chr14:14q32.13 |
pathogenic|uncertain significance|other |
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512622]|PI NULL(DEVON) [RCV000019597]|PI NULL(NEWPORT) [RCV000019599]|PI Q0(DEVON) [RCV000019598]|PI Q0(NEWPORT) [RCV000019600] |
Chr14:94382823 [GRCh38] Chr14:94849160 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000201851]|PI NULL(LUDWIGSHAFEN) [RCV000019601]|PI Q0(LUDWIGSHAFEN) [RCV000019602] |
Chr14:94382891 [GRCh38] Chr14:94849228 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000169508]|PI S(IIYAMA) [RCV000019608] |
Chr14:94383008 [GRCh38] Chr14:94849345 [GRCh37] Chr14:14q32.13 |
pathogenic|other |
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512618]|PI Z(BRISTOL) [RCV000019609]|not provided [RCV000731628] |
Chr14:94382912 [GRCh38] Chr14:94849249 [GRCh37] Chr14:14q32.13 |
likely pathogenic|uncertain significance|other |
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 |
copy number loss |
See cases [RCV000051551] |
Chr14:90255156..95274696 [GRCh38] Chr14:90721500..95741033 [GRCh37] Chr14:89791253..94810786 [NCBI36] Chr14:14q32.11-32.13 |
pathogenic |
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] |
Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 |
copy number gain |
See cases [RCV000052295] |
Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 |
copy number gain |
See cases [RCV000052294] |
Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 |
copy number gain |
See cases [RCV000052296] |
Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 |
copy number gain |
See cases [RCV000135896] |
Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 |
copy number gain |
See cases [RCV000138230] |
Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000290083]|not provided [RCV001689696]|not specified [RCV000151831] |
Chr14:94380948 [GRCh38] Chr14:94847285 [GRCh37] Chr14:14q32.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000860964]|not provided [RCV004704992]|not specified [RCV000151832] |
Chr14:94381014 [GRCh38] Chr14:94847351 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000405780]|Inborn genetic diseases [RCV002326886]|not provided [RCV001689704]|not specified [RCV000155575] |
Chr14:94382814 [GRCh38] Chr14:94849151 [GRCh37] Chr14:14q32.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) |
duplication |
Alpha-1-antitrypsin deficiency [RCV000169195] |
Chr14:94378547..94378548 [GRCh38] Chr14:94844884..94844885 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000169206] |
Chr14:94382686 [GRCh38] Chr14:94849023 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000169405] |
Chr14:94381043 [GRCh38] Chr14:94847380 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000295.5(SERPINA1):c.646+1G>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000169461]|PI NULL(WEST) [RCV000019606]|not provided [RCV000593270] |
Chr14:94382591 [GRCh38] Chr14:94848928 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001120979]|not provided [RCV000178070] |
Chr14:94379468 [GRCh38] Chr14:94845805 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*5_*14del |
deletion |
not provided [RCV000178752] |
Chr14:94378435..94378444 [GRCh38] Chr14:94844772..94844781 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000377547]|Inborn genetic diseases [RCV003165759]|SERPINA1-related disorder [RCV003910009]|not provided [RCV000364791] |
Chr14:94383195 [GRCh38] Chr14:94849532 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
Single allele |
deletion |
Alpha-1-antitrypsin deficiency [RCV000201847] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201848] |
Chr14:14q32.13 |
pathogenic |
F variant |
variation |
Alpha-1-antitrypsin deficiency [RCV000201850] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201851] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201852] |
Chr14:14q32.13 |
pathogenic |
NM_000295.4(SERPINA1):c.226_228delTTC (p.Phe76del) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000201853] |
Chr14:94383010..94383012 [GRCh38] Chr14:94849347..94849349 [GRCh37] Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201854] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201855] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201857] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201860] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201861] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201862] |
Chr14:14q32.13 |
pathogenic |
QOgranite falls allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201863] |
Chr14:14q32.13 |
pathogenic |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000201867] |
Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000204334] |
Chr14:94383149 [GRCh38] Chr14:94849486 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000204423] |
Chr14:94382700 [GRCh38] Chr14:94849037 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000204440] |
Chr14:94381051 [GRCh38] Chr14:94847388 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000204581] |
Chr14:94378613 [GRCh38] Chr14:94844950 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) |
indel |
Alpha-1-antitrypsin deficiency [RCV000204775] |
Chr14:94378591..94378598 [GRCh38] Chr14:94844928..94844935 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.236T>A (p.Val79Glu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000204890] |
Chr14:94383002 [GRCh38] Chr14:94849339 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000205031] |
Chr14:94383136 [GRCh38] Chr14:94849473 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000205278] |
Chr14:94383058 [GRCh38] Chr14:94849395 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000205451] |
Chr14:94382607 [GRCh38] Chr14:94848944 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.879C>G (p.His293Gln) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000205552] |
Chr14:94380909 [GRCh38] Chr14:94847246 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000205912]|not provided [RCV000731082]|not specified [RCV004586623] |
Chr14:94378612 [GRCh38] Chr14:94844949 [GRCh37] Chr14:14q32.13 |
pathogenic|likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000206086] |
Chr14:94378498 [GRCh38] Chr14:94844835 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000206131] |
Chr14:94383039 [GRCh38] Chr14:94849376 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000206411]|not provided [RCV000729874] |
Chr14:94378529 [GRCh38] Chr14:94844866 [GRCh37] Chr14:14q32.13 |
pathogenic|uncertain significance |
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000206568] |
Chr14:94381053 [GRCh38] Chr14:94847390 [GRCh37] Chr14:14q32.13 |
likely benign |
Single allele |
variation |
Alpha-1-antitrypsin deficiency [RCV000203601] |
Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000203753] |
Chr14:94380940 [GRCh38] Chr14:94847277 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000203791] |
Chr14:94383050 [GRCh38] Chr14:94849387 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000206686] |
Chr14:94379465 [GRCh38] Chr14:94845802 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000206778] |
Chr14:94381081 [GRCh38] Chr14:94847418 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768547] |
Chr14:94382941 [GRCh38] Chr14:94849278 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.369C>A (p.Leu123=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001494198]|SERPINA1-related disorder [RCV004749705] |
Chr14:94382869 [GRCh38] Chr14:94849206 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000860887]|not specified [RCV000242259] |
Chr14:94378638 [GRCh38] Chr14:94844975 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.522C>T (p.Thr174=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000861401]|Inborn genetic diseases [RCV002347949]|not provided [RCV004714564]|not specified [RCV000247618] |
Chr14:94382716 [GRCh38] Chr14:94849053 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.*792C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000301582] |
Chr14:94377657 [GRCh38] Chr14:94843994 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000264721] |
Chr14:94383232 [GRCh38] Chr14:94849569 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.4(SERPINA1):c.-208C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000301367]|not provided [RCV004705302] |
Chr14:94388763 [GRCh38] Chr14:94855100 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000285849]|Inborn genetic diseases [RCV002450873] |
Chr14:94378611 [GRCh38] Chr14:94844948 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000336993]|SERPINA1-related disorder [RCV003409418]|not provided [RCV000443069] |
Chr14:94378529 [GRCh38] Chr14:94844866 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000295.5(SERPINA1):c.*1414G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000269297] |
Chr14:94377035 [GRCh38] Chr14:94843372 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1067G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000287395]|not provided [RCV004714905] |
Chr14:94377382 [GRCh38] Chr14:94377382..94377383 [GRCh38] Chr14:94843719 [GRCh37] Chr14:94843719..94843720 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.4(SERPINA1):c.-102delC |
deletion |
Alpha-1-antitrypsin deficiency [RCV000289427] |
Chr14:94388653 [GRCh38] Chr14:94854990 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1555C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000328088] |
Chr14:94376894 [GRCh38] Chr14:94843231 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.*1567C>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000273025] |
Chr14:94376882 [GRCh38] Chr14:94843219 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*678C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000308422] |
Chr14:94377771 [GRCh38] Chr14:94844108 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.206C>T (p.Ser69Phe) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000353319]|not provided [RCV000734913] |
Chr14:94383032 [GRCh38] Chr14:94849369 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*854T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000404372]|not provided [RCV004714906] |
Chr14:94377595 [GRCh38] Chr14:94843932 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.*316G>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000274082]|not provided [RCV004714907] |
Chr14:94378133 [GRCh38] Chr14:94844470 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.*1292C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000294303] |
Chr14:94377157 [GRCh38] Chr14:94843494 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.4(SERPINA1):c.-188G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000295272] |
Chr14:94388743 [GRCh38] Chr14:94855080 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*481G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000277781]|not provided [RCV004715878] |
Chr14:94377968 [GRCh38] Chr14:94377968..94377969 [GRCh38] Chr14:94844305 [GRCh37] Chr14:94844305..94844306 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.*1221A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000281319]|not provided [RCV004714904] |
Chr14:94377228 [GRCh38] Chr14:94843565 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000298466]|SERPINA1-related disorder [RCV004748725]|not provided [RCV000734670] |
Chr14:94383027 [GRCh38] Chr14:94849364 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.*263C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000319899] |
Chr14:94378186 [GRCh38] Chr14:94844523 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*968T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000342331]|not provided [RCV004715877] |
Chr14:94377481 [GRCh38] Chr14:94843818 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001088917]|Inborn genetic diseases [RCV002374482]|SERPINA1-related disorder [RCV003930165]|not provided [RCV000372916] |
Chr14:94379605 [GRCh38] Chr14:94845942 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.*1141A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000393891] |
Chr14:94377308 [GRCh38] Chr14:94843645 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000322898]|Inborn genetic diseases [RCV003338572]|not provided [RCV000597535] |
Chr14:94383067 [GRCh38] Chr14:94849404 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000369653] |
Chr14:94382651 [GRCh38] Chr14:94848988 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.4(SERPINA1):c.-190G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000350148] |
Chr14:94388745 [GRCh38] Chr14:94855082 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.-7A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000329132]|SERPINA1-related disorder [RCV003972344]|not provided [RCV000594715] |
Chr14:94388562 [GRCh38] Chr14:94854899 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.*224G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000374540]|not provided [RCV001540969] |
Chr14:94378225 [GRCh38] Chr14:94378225..94378226 [GRCh38] Chr14:94844562 [GRCh37] Chr14:94844562..94844563 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001116057]|Inborn genetic diseases [RCV002348028]|SERPINA1-related disorder [RCV003967809]|not provided [RCV000388199] |
Chr14:94382686 [GRCh38] Chr14:94849023 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.*1287G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000330556] |
Chr14:94377162 [GRCh38] Chr14:94843499 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*419C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000332860] |
Chr14:94378030 [GRCh38] Chr14:94844367 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001085209]|not provided [RCV000394406] |
Chr14:94379553 [GRCh38] Chr14:94845890 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.*1331G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000333809]|PI KALSHEKER-POLLER [RCV000019604]|not provided [RCV004705301] |
Chr14:94377118 [GRCh38] Chr14:94843455 [GRCh37] Chr14:14q32.13 |
benign|likely benign|other |
NM_000295.5(SERPINA1):c.-10T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000383822]|not specified [RCV000597167] |
Chr14:94388565 [GRCh38] Chr14:94854902 [GRCh37] Chr14:14q32.13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000407407]|Inborn genetic diseases [RCV003298374] |
Chr14:94379562 [GRCh38] Chr14:94845899 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000314851]|not provided [RCV000733122] |
Chr14:94381087 [GRCh38] Chr14:94847424 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.4(SERPINA1):c.-223A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000337480]|not provided [RCV004705303] |
Chr14:94388778 [GRCh38] Chr14:94855115 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.*1C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000316220]|SERPINA1-related disorder [RCV003920318] |
Chr14:94378448 [GRCh38] Chr14:94844785 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001081168]|SERPINA1-related disorder [RCV003401263]|not provided [RCV000766819]|not specified [RCV000366637] |
Chr14:94379607 [GRCh38] Chr14:94845944 [GRCh37] Chr14:14q32.13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.*172T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000279804] |
Chr14:94378277 [GRCh38] Chr14:94844614 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*500G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000363065] |
Chr14:94377949 [GRCh38] Chr14:94844286 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.740G>A (p.Arg247His) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002059215]|not provided [RCV000298533] |
Chr14:94381048 [GRCh38] Chr14:94847385 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.334C>A (p.Pro112Thr) |
single nucleotide variant |
not provided [RCV000333385] |
Chr14:94382904 [GRCh38] Chr14:94849241 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1494A>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000363898] |
Chr14:94376955 [GRCh38] Chr14:94843292 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.4(SERPINA1):c.-176C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000389403] |
Chr14:94388731 [GRCh38] Chr14:94855068 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000670695]|not provided [RCV000490133]|not specified [RCV002248715] |
Chr14:94380908 [GRCh38] Chr14:94847245 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NC_000014.9:g.94376746G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000320378]|not provided [RCV004703903] |
Chr14:94376746 [GRCh38] Chr14:94843083 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.*725G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000365656] |
Chr14:94377724 [GRCh38] Chr14:94844061 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*400C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000368750] |
Chr14:94378049 [GRCh38] Chr14:94844386 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1195G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000336553] |
Chr14:94377254 [GRCh38] Chr14:94843591 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1294T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000388317] |
Chr14:94377155 [GRCh38] Chr14:94843492 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.455A>G (p.Asp152Gly) |
single nucleotide variant |
not provided [RCV000597695] |
Chr14:94382783 [GRCh38] Chr14:94849120 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) |
microsatellite |
Alpha-1-antitrypsin deficiency [RCV000262058]|PI M(MALTON) [RCV000019568]|SERPINA1-related disorder [RCV003417992]|not provided [RCV000594562] |
Chr14:94383009..94383011 [GRCh38] Chr14:94849346..94849348 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|other |
NM_000295.4(SERPINA1):c.-191C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000391010] |
Chr14:94388746 [GRCh38] Chr14:94855083 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.288_291del (p.His97fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000408906] |
Chr14:94382947..94382950 [GRCh38] Chr14:94849284..94849287 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.333T>G (p.Ile111Met) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000356425] |
Chr14:94382905 [GRCh38] Chr14:94849242 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1235C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000375780] |
Chr14:94377214 [GRCh38] Chr14:94843551 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.4(SERPINA1):c.-143C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000344169] |
Chr14:94388698 [GRCh38] Chr14:94855035 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*694A>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000397758] |
Chr14:94377755 [GRCh38] Chr14:94844092 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.470A>T (p.Asp157Val) |
single nucleotide variant |
SERPINA1-related disorder [RCV003403407]|not provided [RCV000596233] |
Chr14:94382768 [GRCh38] Chr14:94849105 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001079054]|Inborn genetic diseases [RCV003160048]|not provided [RCV000592418] |
Chr14:94383187 [GRCh38] Chr14:94849524 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001398304]|Inborn genetic diseases [RCV002350426]|not provided [RCV000592006] |
Chr14:94382692 [GRCh38] Chr14:94849029 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768538] |
Chr14:94378585 [GRCh38] Chr14:94844922 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768540] |
Chr14:94379515 [GRCh38] Chr14:94845852 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768545] |
Chr14:94380955 [GRCh38] Chr14:94847292 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.*1576G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001120775] |
Chr14:94376873 [GRCh38] Chr14:94843210 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.646+5_646+6del |
deletion |
SERPINA1-related disorder [RCV003915716]|not provided [RCV000598456] |
Chr14:94382586..94382587 [GRCh38] Chr14:94848923..94848924 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001088192]|not provided [RCV000593655] |
Chr14:94379603 [GRCh38] Chr14:94845940 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.918-4A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001464971]|SERPINA1-related disorder [RCV003905530]|not provided [RCV000593680] |
Chr14:94379615 [GRCh38] Chr14:94845952 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001410329]|not provided [RCV000596999] |
Chr14:94382914 [GRCh38] Chr14:94849251 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.1065+10C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001079262]|SERPINA1-related disorder [RCV003962685]|not provided [RCV000591160] |
Chr14:94379454 [GRCh38] Chr14:94845791 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.*627G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001120870] |
Chr14:94377822 [GRCh38] Chr14:94844159 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000409474] |
Chr14:94383052 [GRCh38] Chr14:94849389 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001087977]|Inborn genetic diseases [RCV002343598]|not provided [RCV000731004] |
Chr14:94378500 [GRCh38] Chr14:94844837 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.381C>T (p.Leu127=) |
single nucleotide variant |
SERPINA1-related disorder [RCV004748953]|not provided [RCV000733782] |
Chr14:94382857 [GRCh38] Chr14:94849194 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.1120G>A (p.Ala374Thr) |
single nucleotide variant |
not provided [RCV000733810] |
Chr14:94378586 [GRCh38] Chr14:94844923 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.-4G>A |
single nucleotide variant |
SERPINA1-related disorder [RCV003905526]|not provided [RCV000595369] |
Chr14:94383241 [GRCh38] Chr14:94849578 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.714del (p.Thr239fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000410206] |
Chr14:94381074 [GRCh38] Chr14:94847411 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001088314]|SERPINA1-related disorder [RCV003953299]|not provided [RCV000728488] |
Chr14:94381070 [GRCh38] Chr14:94847407 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.978C>T (p.Val326=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003768179]|not provided [RCV000728634] |
Chr14:94379551 [GRCh38] Chr14:94845888 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.41G>T (p.Gly14Val) |
single nucleotide variant |
not provided [RCV000730134] |
Chr14:94383197 [GRCh38] Chr14:94849534 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.879C>A (p.His293Gln) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002532643]|SERPINA1-related disorder [RCV003392441]|not provided [RCV000594222] |
Chr14:94380909 [GRCh38] Chr14:94847246 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.793C>T (p.Leu265=) |
single nucleotide variant |
not provided [RCV000734414] |
Chr14:94380995 [GRCh38] Chr14:94847332 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.497C>A (p.Ala166Asp) |
single nucleotide variant |
not provided [RCV000728752]|not specified [RCV004586904] |
Chr14:94382741 [GRCh38] Chr14:94849078 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.457A>G (p.Lys153Glu) |
single nucleotide variant |
not provided [RCV000730447] |
Chr14:94382781 [GRCh38] Chr14:94849118 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.677A>G (p.Asp226Gly) |
single nucleotide variant |
not provided [RCV000731398] |
Chr14:94381111 [GRCh38] Chr14:94847448 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.80C>T (p.Pro27Leu) |
single nucleotide variant |
not provided [RCV000731401] |
Chr14:94383158 [GRCh38] Chr14:94849495 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.991G>C (p.Gly331Arg) |
single nucleotide variant |
not provided [RCV000734552] |
Chr14:94379538 [GRCh38] Chr14:94845875 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1065+6A>T |
single nucleotide variant |
SERPINA1-related disorder [RCV003908046]|not provided [RCV000732380] |
Chr14:94379458 [GRCh38] Chr14:94845795 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000411305] |
Chr14:94379511 [GRCh38] Chr14:94845848 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.646+2T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000411387] |
Chr14:94382590 [GRCh38] Chr14:94848927 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.334C>T (p.Pro112Ser) |
single nucleotide variant |
not provided [RCV000732508] |
Chr14:94382904 [GRCh38] Chr14:94849241 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000411735] |
Chr14:94383237 [GRCh38] Chr14:94849574 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000411794] |
Chr14:94383217 [GRCh38] Chr14:94849554 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001083682]|Inborn genetic diseases [RCV002369991]|not provided [RCV000729755] |
Chr14:94380889 [GRCh38] Chr14:94847226 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001084531]|SERPINA1-related disorder [RCV003979953]|not provided [RCV000598234] |
Chr14:94382724 [GRCh38] Chr14:94849061 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.1156C>T (p.Pro386Ser) |
single nucleotide variant |
not provided [RCV000731915] |
Chr14:94378550 [GRCh38] Chr14:94844887 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.339G>T (p.Glu113Asp) |
single nucleotide variant |
not provided [RCV000734907] |
Chr14:94382899 [GRCh38] Chr14:94849236 [GRCh37] Chr14:14q32.13 |
uncertain significance |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508708] |
Chr14:94378570 [GRCh38] Chr14:94844907 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508718] |
Chr14:94380881 [GRCh38] Chr14:94847218 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508731] |
Chr14:94381061 [GRCh38] Chr14:94847398 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508737] |
Chr14:94382700 [GRCh38] Chr14:94849037 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508807] |
Chr14:94379502 [GRCh38] Chr14:94845839 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508818] |
Chr14:94380894 [GRCh38] Chr14:94847231 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508825] |
Chr14:94381124 [GRCh38] Chr14:94847461 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508868] |
Chr14:94382882 [GRCh38] Chr14:94849219 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508872] |
Chr14:94379529 [GRCh38] Chr14:94845866 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508902]|SERPINA1-related disorder [RCV004748795] |
Chr14:94378480 [GRCh38] Chr14:94844817 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000508918] |
Chr14:94380910 [GRCh38] Chr14:94847247 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647del |
deletion |
Alpha-1-antitrypsin deficiency [RCV000508923] |
Chr14:94381141 [GRCh38] Chr14:94847478 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) |
duplication |
Alpha-1-antitrypsin deficiency [RCV000508966]|SERPINA1-related disorder [RCV003409721] |
Chr14:94380921..94380922 [GRCh38] Chr14:94847258..94847259 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3 |
copy number gain |
See cases [RCV000511246] |
Chr14:93498930..96059698 [GRCh37] Chr14:14q32.12-32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117502]|not provided [RCV000594503] |
Chr14:94382988 [GRCh38] Chr14:94849325 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768537] |
Chr14:94382994 [GRCh38] Chr14:94849331 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001447395]|SERPINA1-related disorder [RCV003962683]|not provided [RCV000594720] |
Chr14:94378572 [GRCh38] Chr14:94844909 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.54G>A (p.Leu18=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638684]|not provided [RCV000594802] |
Chr14:94383184 [GRCh38] Chr14:94849521 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
NM_000295.5(SERPINA1):c.626T>C (p.Val209Ala) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512616] |
Chr14:94382612 [GRCh38] Chr14:94848949 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1064_1066-3del (p.Lys355_Ala356=) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000512617] |
Chr14:94378640..94379462 [GRCh38] Chr14:94844977..94845799 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512624] |
Chr14:94383069 [GRCh38] Chr14:94849406 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512625] |
Chr14:94382592 [GRCh38] Chr14:94848929 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.299T>A (p.Ile100Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512627] |
Chr14:94382939 [GRCh38] Chr14:94849276 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512628] |
Chr14:94383011 [GRCh38] Chr14:94849348 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.436G>A (p.Glu146Lys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512629]|not provided [RCV000728262] |
Chr14:94382802 [GRCh38] Chr14:94849139 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000512630] |
Chr14:94378633 [GRCh38] Chr14:94844970 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.1del (p.Met1fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000512614] |
Chr14:94383237 [GRCh38] Chr14:94849574 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000512620]|PI NULL(BOLTON) [RCV000019589]|PI Q0(BOLTON) [RCV000019590] |
Chr14:94378548 [GRCh38] Chr14:94844885 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|other |
NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer) |
deletion |
Alpha-1-antitrypsin deficiency [RCV000512623] |
Chr14:94378633..94378634 [GRCh38] Chr14:94844970..94844971 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000671941] |
Chr14:94378631 [GRCh38] Chr14:94844968 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000671556] |
Chr14:94383123 [GRCh38] Chr14:94849460 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs) |
duplication |
Alpha-1-antitrypsin deficiency [RCV000668239] |
Chr14:94378575..94378576 [GRCh38] Chr14:94844912..94844913 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000666593] |
Chr14:94381134 [GRCh38] Chr14:94847471 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.1066-1G>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000667719] |
Chr14:94378641 [GRCh38] Chr14:94844978 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 |
copy number loss |
not provided [RCV000683625] |
Chr14:84783137..96908198 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 |
copy number gain |
not provided [RCV000848687] |
Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33 |
pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000853413] |
Chr14:94382769 [GRCh38] Chr14:94849106 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.399G>A (p.Gln133=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001476080] |
Chr14:94382839 [GRCh38] Chr14:94849176 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.*241G>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117400] |
Chr14:94378208 [GRCh38] Chr14:94844545 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*18A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117403] |
Chr14:94378431 [GRCh38] Chr14:94844768 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*413C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001115942] |
Chr14:94378036 [GRCh38] Chr14:94844373 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.873C>T (p.Leu291=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001422357] |
Chr14:94380915 [GRCh38] Chr14:94847252 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.207C>T (p.Ser69=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001462123] |
Chr14:94383031 [GRCh38] Chr14:94849368 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001426176]|Inborn genetic diseases [RCV002434365] |
Chr14:94378587 [GRCh38] Chr14:94844924 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.726G>T (p.Val242=) |
single nucleotide variant |
not provided [RCV000976039] |
Chr14:94381062 [GRCh38] Chr14:94847399 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1155C>T (p.Pro385=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001455095]|SERPINA1-related disorder [RCV003910415] |
Chr14:94378551 [GRCh38] Chr14:94844888 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1047A>G (p.Ala349=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001480565] |
Chr14:94379482 [GRCh38] Chr14:94845819 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.153C>T (p.Thr51=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001454318] |
Chr14:94383085 [GRCh38] Chr14:94849422 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647-8C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001453403] |
Chr14:94381149 [GRCh38] Chr14:94847486 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.921T>C (p.Ser307=) |
single nucleotide variant |
Inborn genetic diseases [RCV003310696] |
Chr14:94379608 [GRCh38] Chr14:94845945 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768541] |
Chr14:94381134 [GRCh38] Chr14:94847471 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.875C>T (p.Thr292Ile) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000779149]|SERPINA1-related disorder [RCV003413569] |
Chr14:94380913 [GRCh38] Chr14:94847250 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) |
microsatellite |
Alpha-1-antitrypsin deficiency [RCV000779150] |
Chr14:94382626..94382627 [GRCh38] Chr14:94848963..94848964 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768539] |
Chr14:94381027 [GRCh38] Chr14:94847364 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000768546] |
Chr14:94378574 [GRCh38] Chr14:94844911 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs) |
indel |
Alpha-1-antitrypsin deficiency [RCV000768542] |
Chr14:94382652..94382653 [GRCh38] Chr14:94848989..94848990 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.513C>T (p.Phe171=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000867586]|SERPINA1-related disorder [RCV004749489] |
Chr14:94382725 [GRCh38] Chr14:94849062 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000871405]|Inborn genetic diseases [RCV002427178]|SERPINA1-related disorder [RCV003955678] |
Chr14:94380969 [GRCh38] Chr14:94847306 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.96C>T (p.Ala32=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001457371] |
Chr14:94383142 [GRCh38] Chr14:94849479 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.711G>A (p.Val237=) |
single nucleotide variant |
not provided [RCV000923067] |
Chr14:94381077 [GRCh38] Chr14:94847414 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.918-9G>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000866748] |
Chr14:94379620 [GRCh38] Chr14:94845957 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.918-5G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000871053]|SERPINA1-related disorder [RCV003955675] |
Chr14:94379616 [GRCh38] Chr14:94845953 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.*1173T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117276] |
Chr14:94377276 [GRCh38] Chr14:94843613 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*442A>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001115941] |
Chr14:94378007 [GRCh38] Chr14:94844344 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*326A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001115945] |
Chr14:94378123 [GRCh38] Chr14:94844460 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.*182C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117401] |
Chr14:94378267 [GRCh38] Chr14:94844604 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*946C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001118904] |
Chr14:94377503 [GRCh38] Chr14:94843840 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*741C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001118906] |
Chr14:94377708 [GRCh38] Chr14:94844045 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*410A>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001115943] |
Chr14:94378039 [GRCh38] Chr14:94844376 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*371G>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001115944] |
Chr14:94378078 [GRCh38] Chr14:94844415 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1066G>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117277] |
Chr14:94377383 [GRCh38] Chr14:94843720 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*315T>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117399] |
Chr14:94378134 [GRCh38] Chr14:94844471 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*80C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117402]|not provided [RCV001655677] |
Chr14:94378369 [GRCh38] Chr14:94844706 [GRCh37] Chr14:14q32.13 |
benign|uncertain significance |
NM_000295.5(SERPINA1):c.*1628G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001120774] |
Chr14:94376821 [GRCh38] Chr14:94843158 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*853C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001118905] |
Chr14:94377596 [GRCh38] Chr14:94843933 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*696C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001120869] |
Chr14:94377753 [GRCh38] Chr14:94844090 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.792G>A (p.Leu264=) |
single nucleotide variant |
not specified [RCV001195341] |
Chr14:94380996 [GRCh38] Chr14:94847333 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000853412] |
Chr14:94379571 [GRCh38] Chr14:94845908 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.4(SERPINA1):c.-165A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001119102] |
Chr14:94388720 [GRCh38] Chr14:94855057 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*1061C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001117278] |
Chr14:94377388 [GRCh38] Chr14:94843725 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.-4-304A>G |
single nucleotide variant |
not provided [RCV001621890] |
Chr14:94383545 [GRCh38] Chr14:94849882 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000853411] |
Chr14:94381009 [GRCh38] Chr14:94847346 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.666T>C (p.Phe222=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001477394] |
Chr14:94381122 [GRCh38] Chr14:94847459 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000870248]|SERPINA1-related disorder [RCV004749497] |
Chr14:94378637 [GRCh38] Chr14:94844974 [GRCh37] Chr14:14q32.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.426G>T (p.Leu142=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001451599] |
Chr14:94382812 [GRCh38] Chr14:94849149 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.588G>A (p.Leu196=) |
single nucleotide variant |
not provided [RCV000931339] |
Chr14:94382650 [GRCh38] Chr14:94848987 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.291C>T (p.His97=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000867764] |
Chr14:94382947 [GRCh38] Chr14:94849284 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV000865394]|SERPINA1-related disorder [RCV003928376] |
Chr14:94378548 [GRCh38] Chr14:94844885 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.102G>A (p.Lys34=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002066125]|Inborn genetic diseases [RCV002382118] |
Chr14:94383136 [GRCh38] Chr14:94849473 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.100A>C (p.Lys34Gln) |
single nucleotide variant |
not provided [RCV003480096] |
Chr14:94383138 [GRCh38] Chr14:94849475 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.959C>A (p.Thr320Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003253365] |
Chr14:94379570 [GRCh38] Chr14:94845907 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001065386] |
Chr14:94380947 [GRCh38] Chr14:94847284 [GRCh37] Chr14:14q32.13 |
pathogenic |
GRCh37/hg19 14q32.13(chr14:94831963-94934610)x1 |
copy number loss |
not provided [RCV001006651] |
Chr14:94831963..94934610 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.349C>T (p.His117Tyr) |
single nucleotide variant |
Hereditary angioedema with normal C1Inh [RCV001027417] |
Chr14:94382889 [GRCh38] Chr14:94849226 [GRCh37] Chr14:14q32.13 |
not provided |
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001119005] |
Chr14:94378602 [GRCh38] Chr14:94844939 [GRCh37] Chr14:14q32.13 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 |
copy number loss |
Deletion syndrome [RCV001004048] |
Chr14:84783523..96907490 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
NM_000295.4(SERPINA1):c.-215G>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001121078] |
Chr14:94388770 [GRCh38] Chr14:94855107 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*469G>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001120871] |
Chr14:94377980 [GRCh38] Chr14:94844317 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.647-69T>C |
single nucleotide variant |
not provided [RCV001678766] |
Chr14:94381210 [GRCh38] Chr14:94847547 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.1070T>C (p.Val357Ala) |
single nucleotide variant |
Hereditary angioedema with normal C1Inh [RCV001027418] |
Chr14:94378636 [GRCh38] Chr14:94844973 [GRCh37] Chr14:14q32.13 |
not provided |
NM_000295.5(SERPINA1):c.868G>T (p.Glu290Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001334371] |
Chr14:94380920 [GRCh38] Chr14:94847257 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.453G>A (p.Val151=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001422242] |
Chr14:94382785 [GRCh38] Chr14:94849122 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.54G>T (p.Leu18=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001433478] |
Chr14:94383184 [GRCh38] Chr14:94849521 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1092C>T (p.Ile364=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001415042]|SERPINA1-related disorder [RCV003920904] |
Chr14:94378614 [GRCh38] Chr14:94844951 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1157C>A (p.Pro386His) |
single nucleotide variant |
not provided [RCV001358020] |
Chr14:94378549 [GRCh38] Chr14:94844886 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.18G>A (p.Ser6=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001413012] |
Chr14:94383220 [GRCh38] Chr14:94849557 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.899T>C (p.Leu300Pro) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001486563] |
Chr14:94380889 [GRCh38] Chr14:94847226 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1152C>T (p.Ile384=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001486566] |
Chr14:94378554 [GRCh38] Chr14:94844891 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.681C>G (p.Thr227=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001457078] |
Chr14:94381107 [GRCh38] Chr14:94847444 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1248C>A (p.Thr416=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001441930] |
Chr14:94378458 [GRCh38] Chr14:94844795 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.975C>T (p.Ser325=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001505318] |
Chr14:94379554 [GRCh38] Chr14:94845891 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001462958] |
Chr14:94378481 [GRCh38] Chr14:94844818 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.231C>T (p.Ser77=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001428626] |
Chr14:94383007 [GRCh38] Chr14:94849344 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1179C>T (p.Pro393=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001477247] |
Chr14:94378527 [GRCh38] Chr14:94844864 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.144C>T (p.Asn48=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001493363] |
Chr14:94383094 [GRCh38] Chr14:94849431 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1221C>T (p.Leu407=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001427240] |
Chr14:94378485 [GRCh38] Chr14:94844822 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.470A>G (p.Asp157Gly) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001444009] |
Chr14:94382768 [GRCh38] Chr14:94849105 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.918-6C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001430854]|SERPINA1-related disorder [RCV003908632] |
Chr14:94379617 [GRCh38] Chr14:94845954 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.663C>T (p.Pro221=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001436205] |
Chr14:94381125 [GRCh38] Chr14:94847462 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.426G>A (p.Leu142=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001403656] |
Chr14:94382812 [GRCh38] Chr14:94849149 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1113_1114del (p.Ala372fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV001388619] |
Chr14:94378592..94378593 [GRCh38] Chr14:94844929..94844930 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.607_608del (p.Asp203fs) |
microsatellite |
Alpha-1-antitrypsin deficiency [RCV001388184] |
Chr14:94382630..94382631 [GRCh38] Chr14:94848967..94848968 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.917+316C>T |
single nucleotide variant |
not provided [RCV001535193] |
Chr14:94380555 [GRCh38] Chr14:94380555..94380556 [GRCh38] Chr14:94846892 [GRCh37] Chr14:94846892..94846893 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.714C>T (p.Thr238=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001467716] |
Chr14:94381074 [GRCh38] Chr14:94847411 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.135A>C (p.Pro45=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001506007] |
Chr14:94383103 [GRCh38] Chr14:94849440 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001468643] |
Chr14:94378530 [GRCh38] Chr14:94844867 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.879C>T (p.His293=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001476580] |
Chr14:94380909 [GRCh38] Chr14:94847246 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.396C>T (p.Ser132=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001451783] |
Chr14:94382842 [GRCh38] Chr14:94849179 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.917+265T>C |
single nucleotide variant |
not provided [RCV001685694] |
Chr14:94380606 [GRCh38] Chr14:94846943 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.681C>T (p.Thr227=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001453706] |
Chr14:94381107 [GRCh38] Chr14:94847444 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647-71T>C |
single nucleotide variant |
not provided [RCV001692716] |
Chr14:94381212 [GRCh38] Chr14:94847549 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001377892] |
Chr14:94378528 [GRCh38] Chr14:94844865 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.742T>C (p.Leu248=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001496055] |
Chr14:94381046 [GRCh38] Chr14:94847383 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.723G>A (p.Lys241=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001486621] |
Chr14:94381065 [GRCh38] Chr14:94847402 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.414C>T (p.Thr138=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001423273] |
Chr14:94382824 [GRCh38] Chr14:94849161 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.861G>A (p.Leu287=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001427566] |
Chr14:94380927 [GRCh38] Chr14:94847264 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1029C>T (p.Ser343=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001515053]|SERPINA1-related disorder [RCV003980530] |
Chr14:94379500 [GRCh38] Chr14:94845837 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.156C>A (p.Pro52=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001430823] |
Chr14:94383082 [GRCh38] Chr14:94849419 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1159G>T (p.Glu387Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001783728] |
Chr14:94378547 [GRCh38] Chr14:94844884 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.113C>T (p.Ser38Phe) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002482346]|not provided [RCV001815769] |
Chr14:94383125 [GRCh38] Chr14:94849462 [GRCh37] Chr14:14q32.13 |
uncertain significance |
GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710) |
copy number gain |
not specified [RCV002052454] |
Chr14:94442454..95185710 [GRCh37] Chr14:14q32.12-32.13 |
uncertain significance |
GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218) |
copy number gain |
not specified [RCV002052453] |
Chr14:94400492..96192218 [GRCh37] Chr14:14q32.12-32.13 |
uncertain significance |
NC_000014.8:g.(?_93687728)_(95560403_?)del |
deletion |
DICER1-related tumor predisposition [RCV002044285] |
Chr14:93687728..95560403 [GRCh37] Chr14:14q32.12-32.13 |
likely pathogenic |
NC_000014.8:g.(?_94843455)_(94847488_?)del |
deletion |
Alpha-1-antitrypsin deficiency [RCV001949234] |
Chr14:94843455..94847488 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.1096G>C (p.Glu366Gln) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV001984018] |
Chr14:94378610 [GRCh38] Chr14:94844947 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NC_000014.8:g.(?_94847198)_(94854896_?)del |
deletion |
Alpha-1-antitrypsin deficiency [RCV001982905] |
Chr14:94847198..94854896 [GRCh37] Chr14:14q32.13 |
pathogenic |
NC_000014.8:g.(?_94843455)_(94854896_?)del |
deletion |
Alpha-1-antitrypsin deficiency [RCV001942079] |
Chr14:94843455..94854896 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.1052del (p.Leu351fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV001956095] |
Chr14:94379477 [GRCh38] Chr14:94845814 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.787del (p.Val263fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV001951534] |
Chr14:94381001 [GRCh38] Chr14:94847338 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.66C>T (p.Ser22=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002105679] |
Chr14:94383172 [GRCh38] Chr14:94849509 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.477A>G (p.Lys159=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002088794] |
Chr14:94382761 [GRCh38] Chr14:94849098 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647-9del |
deletion |
Alpha-1-antitrypsin deficiency [RCV002072434] |
Chr14:94381150 [GRCh38] Chr14:94847487 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.738G>A (p.Lys246=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002127195] |
Chr14:94381050 [GRCh38] Chr14:94847387 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.99G>A (p.Gln33=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002072411] |
Chr14:94383139 [GRCh38] Chr14:94849476 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.934T>C (p.Leu312=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002147764] |
Chr14:94379595 [GRCh38] Chr14:94845932 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647-10C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002109818] |
Chr14:94381151 [GRCh38] Chr14:94847488 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.138C>G (p.Thr46=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002207361] |
Chr14:94383100 [GRCh38] Chr14:94849437 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1083G>T (p.Val361=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002075574] |
Chr14:94378623 [GRCh38] Chr14:94844960 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.805C>T (p.Leu269=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002215279] |
Chr14:94380983 [GRCh38] Chr14:94847320 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1122C>T (p.Ala374=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002124347] |
Chr14:94378584 [GRCh38] Chr14:94844921 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1065+7T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002095566] |
Chr14:94379457 [GRCh38] Chr14:94845794 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.579T>A (p.Ile193=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002096972] |
Chr14:94382659 [GRCh38] Chr14:94848996 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.393C>T (p.Asp131=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002216042] |
Chr14:94382845 [GRCh38] Chr14:94849182 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.717C>T (p.Thr239=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002213870] |
Chr14:94381071 [GRCh38] Chr14:94847408 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.318C>T (p.Phe106=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002093203] |
Chr14:94382920 [GRCh38] Chr14:94849257 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.795G>A (p.Leu265=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002171310] |
Chr14:94380993 [GRCh38] Chr14:94847330 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.627G>A (p.Val209=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002116244] |
Chr14:94382611 [GRCh38] Chr14:94848948 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.372C>T (p.Leu124=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002152219] |
Chr14:94382866 [GRCh38] Chr14:94849203 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.828C>T (p.Phe276=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002075818] |
Chr14:94380960 [GRCh38] Chr14:94847297 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.201C>G (p.His67Gln) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002121094] |
Chr14:94383037 [GRCh38] Chr14:94849374 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.564T>A (p.Gly188=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002137671] |
Chr14:94382674 [GRCh38] Chr14:94849011 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.648C>A (p.Gly216=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002163054] |
Chr14:94381140 [GRCh38] Chr14:94847477 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.999T>C (p.Thr333=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002159548]|SERPINA1-related disorder [RCV003978507] |
Chr14:94379530 [GRCh38] Chr14:94845867 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.321C>T (p.Asn107=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002198546] |
Chr14:94382917 [GRCh38] Chr14:94849254 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1244C>T (p.Pro415Leu) |
single nucleotide variant |
not provided [RCV002222303] |
Chr14:94378462 [GRCh38] Chr14:94844799 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.917+9C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003110443] |
Chr14:94380862 [GRCh38] Chr14:94847199 [GRCh37] Chr14:14q32.13 |
likely benign |
NC_000014.8:g.(?_90429459)_(97347545_?)dup |
duplication |
not provided [RCV003109490] |
Chr14:90429459..97347545 [GRCh37] Chr14:14q32.11-32.2 |
uncertain significance |
NC_000014.8:g.(?_90429459)_(94856914_?)dup |
duplication |
Achondrogenesis, type IA [RCV003113413] |
Chr14:90429459..94856914 [GRCh37] Chr14:14q32.11-32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.844G>A (p.Gly282Arg) |
single nucleotide variant |
Squamous cell carcinoma [RCV003129617]|not specified [RCV004801314] |
Chr14:94380944 [GRCh38] Chr14:94847281 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
not provided [RCV002262447] |
Chr14:94379480 [GRCh38] Chr14:94845817 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.700G>A (p.Val234Met) |
single nucleotide variant |
not provided [RCV002265372] |
Chr14:94381088 [GRCh38] Chr14:94847425 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.187C>G (p.Arg63Gly) |
single nucleotide variant |
not provided [RCV002261498] |
Chr14:94383051 [GRCh38] Chr14:94849388 [GRCh37] Chr14:14q32.13 |
uncertain significance |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_000295.5(SERPINA1):c.542T>C (p.Ile181Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002349546] |
Chr14:94382696 [GRCh38] Chr14:94849033 [GRCh37] Chr14:14q32.13 |
uncertain significance |
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 |
copy number gain |
not provided [RCV002472581] |
Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3 |
copy number gain |
not provided [RCV002472422] |
Chr14:94637559..95522984 [GRCh37] Chr14:14q32.12-32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.463T>C (p.Leu155=) |
single nucleotide variant |
Inborn genetic diseases [RCV002342600] |
Chr14:94382775 [GRCh38] Chr14:94849112 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.528G>A (p.Glu176=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344511] |
Chr14:94382710 [GRCh38] Chr14:94849047 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1155_1156delinsTG (p.Pro386Ala) |
indel |
not provided [RCV003480095] |
Chr14:94378550..94378551 [GRCh38] Chr14:94844887..94844888 [GRCh37] Chr14:14q32.13 |
uncertain significance |
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 |
copy number gain |
not provided [RCV002472541] |
Chr14:81593708..97059276 [GRCh37] Chr14:14q31.1-32.2 |
likely pathogenic |
NM_000295.5(SERPINA1):c.165T>C (p.Ala55=) |
single nucleotide variant |
Inborn genetic diseases [RCV002403812] |
Chr14:94383073 [GRCh38] Chr14:94849410 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.67C>T (p.Leu23=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369474] |
Chr14:94383171 [GRCh38] Chr14:94849508 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.876C>T (p.Thr292=) |
single nucleotide variant |
Inborn genetic diseases [RCV002373607] |
Chr14:94380912 [GRCh38] Chr14:94847249 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1116T>C (p.Ala372=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441763] |
Chr14:94378590 [GRCh38] Chr14:94844927 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003095047]|Inborn genetic diseases [RCV002383722] |
Chr14:94379499 [GRCh38] Chr14:94845836 [GRCh37] Chr14:14q32.13 |
likely benign|uncertain significance |
NM_000295.5(SERPINA1):c.558G>A (p.Glu186=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003526150]|Inborn genetic diseases [RCV002344811] |
Chr14:94382680 [GRCh38] Chr14:94849017 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.354A>G (p.Glu118=) |
single nucleotide variant |
Inborn genetic diseases [RCV002339723] |
Chr14:94382884 [GRCh38] Chr14:94849221 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002310455] |
Chr14:94381115 [GRCh38] Chr14:94847452 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.246T>C (p.Ala82=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002614855] |
Chr14:94382992 [GRCh38] Chr14:94849329 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.241A>G (p.Ile81Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002858931] |
Chr14:94382997 [GRCh38] Chr14:94849334 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1023C>T (p.Asp341=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003034398] |
Chr14:94379506 [GRCh38] Chr14:94845843 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.897C>T (p.Phe299=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002880907] |
Chr14:94380891 [GRCh38] Chr14:94847228 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.856C>T (p.His286Tyr) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002971906] |
Chr14:94380932 [GRCh38] Chr14:94847269 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.415G>T (p.Gly139Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002817959] |
Chr14:94382823 [GRCh38] Chr14:94849160 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002947641] |
Chr14:94380941 [GRCh38] Chr14:94847278 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.54G>C (p.Leu18=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002695510]|SERPINA1-related disorder [RCV003898485] |
Chr14:94383184 [GRCh38] Chr14:94849521 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1050C>G (p.Pro350=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002638547] |
Chr14:94379479 [GRCh38] Chr14:94845816 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.162G>C (p.Leu54=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003053170] |
Chr14:94383076 [GRCh38] Chr14:94849413 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.483G>A (p.Leu161=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003078677] |
Chr14:94382755 [GRCh38] Chr14:94849092 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.891C>G (p.Thr297=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002886062] |
Chr14:94380897 [GRCh38] Chr14:94847234 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.555G>A (p.Val185=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002885667] |
Chr14:94382683 [GRCh38] Chr14:94849020 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647-4C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002668051] |
Chr14:94381145 [GRCh38] Chr14:94847482 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.237G>A (p.Val79=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002741518] |
Chr14:94383001 [GRCh38] Chr14:94849338 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1092C>A (p.Ile364=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003004973] |
Chr14:94378614 [GRCh38] Chr14:94844951 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002786692] |
Chr14:94378609 [GRCh38] Chr14:94844946 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.600T>C (p.Leu200=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002626478] |
Chr14:94382638 [GRCh38] Chr14:94848975 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.69G>A (p.Leu23=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002829771] |
Chr14:94383169 [GRCh38] Chr14:94849506 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.435C>T (p.Ser145=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002917771] |
Chr14:94382803 [GRCh38] Chr14:94849140 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.996C>A (p.Ile332=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002602941]|Inborn genetic diseases [RCV003161920]|SERPINA1-related disorder [RCV003936586] |
Chr14:94379533 [GRCh38] Chr14:94845870 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1077G>A (p.Lys359=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002649456] |
Chr14:94378629 [GRCh38] Chr14:94844966 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.82del (p.Gln28fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV003090674] |
Chr14:94383156 [GRCh38] Chr14:94849493 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.136A>G (p.Thr46Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002668416] |
Chr14:94383102 [GRCh38] Chr14:94849439 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002598958] |
Chr14:94380935 [GRCh38] Chr14:94847272 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002810077] |
Chr14:94382835 [GRCh38] Chr14:94849172 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.819C>A (p.Thr273=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003027650] |
Chr14:94380969 [GRCh38] Chr14:94847306 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.123T>C (p.Asp41=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002601448] |
Chr14:94383115 [GRCh38] Chr14:94849452 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.-5+1G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003064236] |
Chr14:94388559 [GRCh38] Chr14:94854896 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000295.5(SERPINA1):c.411C>G (p.Thr137=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002601242] |
Chr14:94382827 [GRCh38] Chr14:94849164 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.108T>C (p.Asp36=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002578038] |
Chr14:94383130 [GRCh38] Chr14:94849467 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.561G>A (p.Lys187=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003010066] |
Chr14:94382677 [GRCh38] Chr14:94849014 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.573G>A (p.Gly191=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV002607478] |
Chr14:94382665 [GRCh38] Chr14:94849002 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.912C>T (p.Asp304=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003068280] |
Chr14:94380876 [GRCh38] Chr14:94847213 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.566C>T (p.Thr189Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003187123] |
Chr14:94382672 [GRCh38] Chr14:94849009 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.997A>T (p.Thr333Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003187124]|SERPINA1-related disorder [RCV004750352] |
Chr14:94379532 [GRCh38] Chr14:94845869 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1139T>C (p.Ile380Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003220183] |
Chr14:94378567 [GRCh38] Chr14:94844904 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1178C>A (p.Pro393His) |
single nucleotide variant |
not specified [RCV003324337] |
Chr14:94378528 [GRCh38] Chr14:94844865 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1093G>C (p.Asp365His) |
single nucleotide variant |
not specified [RCV003324338] |
Chr14:94378613 [GRCh38] Chr14:94844950 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.250_257dup (p.Met87fs) |
duplication |
Alpha-1-antitrypsin deficiency [RCV003384315] |
Chr14:94382980..94382981 [GRCh38] Chr14:94849317..94849318 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NC_000014.9:g.94366668G>A |
single nucleotide variant |
not provided [RCV003393576] |
Chr14:94366668 [GRCh38] Chr14:94833005 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.647-13C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003874295] |
Chr14:94381154 [GRCh38] Chr14:94847491 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.351_352del (p.His117fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV003472652] |
Chr14:94382886..94382887 [GRCh38] Chr14:94849223..94849224 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.647-2A>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003472651] |
Chr14:94381143 [GRCh38] Chr14:94847480 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003472653] |
Chr14:94383083 [GRCh38] Chr14:94849420 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.216del (p.Asn73fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV003472655] |
Chr14:94383022 [GRCh38] Chr14:94849359 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.557del (p.Glu186fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV003472657] |
Chr14:94382681 [GRCh38] Chr14:94849018 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003472658] |
Chr14:94382763 [GRCh38] Chr14:94849100 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 |
copy number gain |
not provided [RCV003485051] |
Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33 |
pathogenic |
NM_000295.5(SERPINA1):c.480del (p.Lys160fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV003472654] |
Chr14:94382758 [GRCh38] Chr14:94849095 [GRCh37] Chr14:14q32.13 |
pathogenic|likely pathogenic |
NM_000295.5(SERPINA1):c.1179del (p.Phe394fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV003472656] |
Chr14:94378527 [GRCh38] Chr14:94844864 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.221T>A (p.Ile74Asn) |
single nucleotide variant |
SERPINA1-related disorder [RCV003402971] |
Chr14:94383017 [GRCh38] Chr14:94849354 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.1066-5T>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003526326] |
Chr14:94378645 [GRCh38] Chr14:94844982 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1066-6C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003525657] |
Chr14:94378646 [GRCh38] Chr14:94844983 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.825C>T (p.Ile275=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003527127] |
Chr14:94380963 [GRCh38] Chr14:94847300 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.646+16C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003527284] |
Chr14:94382576 [GRCh38] Chr14:94848913 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.646+18G>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003525607] |
Chr14:94382574 [GRCh38] Chr14:94848911 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.279G>A (p.Lys93=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003525706] |
Chr14:94382959 [GRCh38] Chr14:94849296 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.860T>C (p.Leu287Pro) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003527220] |
Chr14:94380928 [GRCh38] Chr14:94847265 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.210C>T (p.Asn70=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003827092] |
Chr14:94383028 [GRCh38] Chr14:94849365 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003829321] |
Chr14:94382895 [GRCh38] Chr14:94849232 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.372C>A (p.Leu124=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003526437] |
Chr14:94382866 [GRCh38] Chr14:94849203 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1066-17G>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003527102] |
Chr14:94378657 [GRCh38] Chr14:94844994 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.423C>A (p.Gly141=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003526545] |
Chr14:94382815 [GRCh38] Chr14:94849152 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003486404] |
Chr14:94382670 [GRCh38] Chr14:94849007 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.1066-15T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003526275] |
Chr14:94378655 [GRCh38] Chr14:94844992 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.987A>G (p.Gln329=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003878784] |
Chr14:94379542 [GRCh38] Chr14:94845879 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.294T>C (p.Asp98=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003833875] |
Chr14:94382944 [GRCh38] Chr14:94849281 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.699C>T (p.His233=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003811635] |
Chr14:94381089 [GRCh38] Chr14:94847426 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.747C>G (p.Gly249=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003838272] |
Chr14:94381041 [GRCh38] Chr14:94847378 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.768T>C (p.Cys256=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638491] |
Chr14:94381020 [GRCh38] Chr14:94847357 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.465G>A (p.Leu155=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639141] |
Chr14:94382773 [GRCh38] Chr14:94849110 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.708G>A (p.Gln236=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003640308] |
Chr14:94381080 [GRCh38] Chr14:94847417 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1065+16C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003859305] |
Chr14:94379448 [GRCh38] Chr14:94845785 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.943C>T (p.Leu315=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639454] |
Chr14:94379586 [GRCh38] Chr14:94845923 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1065+17G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638479] |
Chr14:94379447 [GRCh38] Chr14:94845784 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.30C>T (p.Leu10=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639866] |
Chr14:94383208 [GRCh38] Chr14:94849545 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1066-20T>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638585] |
Chr14:94378660 [GRCh38] Chr14:94844997 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1066-14_1066-12del |
deletion |
Alpha-1-antitrypsin deficiency [RCV003640267] |
Chr14:94378652..94378654 [GRCh38] Chr14:94844989..94844991 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1065+19C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003640338] |
Chr14:94379445 [GRCh38] Chr14:94845782 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.481T>C (p.Leu161=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639082] |
Chr14:94382757 [GRCh38] Chr14:94849094 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1066-14T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003865789] |
Chr14:94378654 [GRCh38] Chr14:94844991 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.963T>C (p.Tyr321=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639577]|SERPINA1-related disorder [RCV003929276] |
Chr14:94379566 [GRCh38] Chr14:94845903 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.618T>C (p.Phe206=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638122] |
Chr14:94382620 [GRCh38] Chr14:94848957 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.627G>C (p.Val209=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638156] |
Chr14:94382611 [GRCh38] Chr14:94848948 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.24C>T (p.Gly8=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638499] |
Chr14:94383214 [GRCh38] Chr14:94849551 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.441C>G (p.Gly147=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003640285] |
Chr14:94382797 [GRCh38] Chr14:94849134 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.189C>T (p.Arg63=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638608] |
Chr14:94383049 [GRCh38] Chr14:94849386 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.771G>A (p.Lys257=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639685] |
Chr14:94381017 [GRCh38] Chr14:94847354 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.646+15C>T |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003640243] |
Chr14:94382577 [GRCh38] Chr14:94848914 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.646+15C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003846136] |
Chr14:94382577 [GRCh38] Chr14:94848914 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.917+20G>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003858402] |
Chr14:94380851 [GRCh38] Chr14:94847188 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.917+13C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639314] |
Chr14:94380858 [GRCh38] Chr14:94847195 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.111A>G (p.Thr37=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003639767] |
Chr14:94383127 [GRCh38] Chr14:94849464 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.27C>A (p.Ile9=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003638201] |
Chr14:94383211 [GRCh38] Chr14:94849548 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.519C>T (p.Asp173=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV003823014] |
Chr14:94382719 [GRCh38] Chr14:94849056 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.966T>A (p.Asp322Glu) |
single nucleotide variant |
SERPINA1-related disorder [RCV003974569] |
Chr14:94379563 [GRCh38] Chr14:94845900 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.115C>T (p.His39Tyr) |
single nucleotide variant |
SERPINA1-related disorder [RCV003982564] |
Chr14:94383123 [GRCh38] Chr14:94849460 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.*10G>A |
single nucleotide variant |
SERPINA1-related disorder [RCV003927000] |
Chr14:94378439 [GRCh38] Chr14:94844776 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1014T>C (p.Asn338=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005103131]|SERPINA1-related disorder [RCV003984638] |
Chr14:94379515 [GRCh38] Chr14:94845852 [GRCh37] Chr14:14q32.13 |
benign|likely benign |
NM_000295.5(SERPINA1):c.27C>T (p.Ile9=) |
single nucleotide variant |
SERPINA1-related disorder [RCV003981716] |
Chr14:94383211 [GRCh38] Chr14:94849548 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.835C>A (p.Pro279Thr) |
single nucleotide variant |
SERPINA1-related disorder [RCV003976910] |
Chr14:94380953 [GRCh38] Chr14:94847290 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.980_981insTA (p.Gly328fs) |
insertion |
SERPINA1-related disorder [RCV003919809] |
Chr14:94379548..94379549 [GRCh38] Chr14:94845885..94845886 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.1076A>T (p.Lys359Met) |
single nucleotide variant |
SERPINA1-related disorder [RCV003921597] |
Chr14:94378630 [GRCh38] Chr14:94844967 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.969G>C (p.Leu323=) |
single nucleotide variant |
SERPINA1-related disorder [RCV003984630] |
Chr14:94379560 [GRCh38] Chr14:94845897 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.975C>A (p.Ser325Arg) |
single nucleotide variant |
SERPINA1-related disorder [RCV003979602] |
Chr14:94379554 [GRCh38] Chr14:94845891 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.964G>A (p.Asp322Asn) |
single nucleotide variant |
SERPINA1-related disorder [RCV003979716] |
Chr14:94379565 [GRCh38] Chr14:94845902 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.1032G>A (p.Gly344=) |
single nucleotide variant |
SERPINA1-related disorder [RCV003979806] |
Chr14:94379497 [GRCh38] Chr14:94845834 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.987_988insT (p.Leu330fs) |
insertion |
SERPINA1-related disorder [RCV003984635] |
Chr14:94379541..94379542 [GRCh38] Chr14:94845878..94845879 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.1020T>C (p.Ala340=) |
single nucleotide variant |
SERPINA1-related disorder [RCV003977345] |
Chr14:94379509 [GRCh38] Chr14:94845846 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.927C>T (p.Ser309=) |
single nucleotide variant |
SERPINA1-related disorder [RCV003911664] |
Chr14:94379602 [GRCh38] Chr14:94845939 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.923C>T (p.Ala308Val) |
single nucleotide variant |
SERPINA1-related disorder [RCV003911727] |
Chr14:94379606 [GRCh38] Chr14:94845943 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.-20C>A |
single nucleotide variant |
SERPINA1-related disorder [RCV003899517] |
Chr14:94388575 [GRCh38] Chr14:94854912 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.922G>A (p.Ala308Thr) |
single nucleotide variant |
SERPINA1-related disorder [RCV003904247] |
Chr14:94379607 [GRCh38] Chr14:94845944 [GRCh37] Chr14:14q32.13 |
benign |
NM_000295.5(SERPINA1):c.1157C>G (p.Pro386Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004453177] |
Chr14:94378549 [GRCh38] Chr14:94844886 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.940A>C (p.Lys314Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004453179] |
Chr14:94379589 [GRCh38] Chr14:94845926 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.918G>A (p.Arg306=) |
single nucleotide variant |
Inborn genetic diseases [RCV004453178] |
Chr14:94379611 [GRCh38] Chr14:94845948 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1138A>G (p.Ile380Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004665934] |
Chr14:94378568 [GRCh38] Chr14:94844905 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1133_1134insTA (p.Glu378fs) |
insertion |
Alpha-1-antitrypsin deficiency [RCV004573570] |
Chr14:94378572..94378573 [GRCh38] Chr14:94844909..94844910 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.1211A>G (p.Lys404Arg) |
single nucleotide variant |
not specified [RCV004587876] |
Chr14:94378495 [GRCh38] Chr14:94844832 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.754_764dup (p.His255fs) |
duplication |
Alpha-1-antitrypsin deficiency [RCV004573572] |
Chr14:94381023..94381024 [GRCh38] Chr14:94847360..94847361 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.290dup (p.His97fs) |
duplication |
Alpha-1-antitrypsin deficiency [RCV004573571] |
Chr14:94382947..94382948 [GRCh38] Chr14:94849284..94849285 [GRCh37] Chr14:14q32.13 |
likely pathogenic |
NM_000295.5(SERPINA1):c.592A>G (p.Lys198Glu) |
single nucleotide variant |
not provided [RCV004794032] |
Chr14:94382646 [GRCh38] Chr14:94848983 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1066-4C>T |
single nucleotide variant |
SERPINA1-related disorder [RCV004748282] |
Chr14:94378644 [GRCh38] Chr14:94844981 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.172G>A (p.Ala58Thr) |
single nucleotide variant |
SERPINA1-related disorder [RCV004748239] |
Chr14:94383066 [GRCh38] Chr14:94849403 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.784T>C (p.Trp262Arg) |
single nucleotide variant |
SERPINA1-related disorder [RCV004726391] |
Chr14:94381004 [GRCh38] Chr14:94847341 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.4(SERPINA1):c.-53dup |
duplication |
SERPINA1-related disorder [RCV004749031] |
Chr14:94388605..94388606 [GRCh38] Chr14:94854942..94854943 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.553G>A (p.Val185Met) |
single nucleotide variant |
SERPINA1-related disorder [RCV004748119] |
Chr14:94382685 [GRCh38] Chr14:94849022 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1074T>A (p.His358Gln) |
single nucleotide variant |
not specified [RCV004703079] |
Chr14:94378632 [GRCh38] Chr14:94844969 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.41G>A (p.Gly14Asp) |
single nucleotide variant |
SERPINA1-related disorder [RCV004724416] |
Chr14:94383197 [GRCh38] Chr14:94849534 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1156C>G (p.Pro386Ala) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005103674]|SERPINA1-related disorder [RCV004750507] |
Chr14:94378550 [GRCh38] Chr14:94844887 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.325A>T (p.Thr109Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004955011] |
Chr14:94382913 [GRCh38] Chr14:94849250 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.1124T>C (p.Met375Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004955012] |
Chr14:94378582 [GRCh38] Chr14:94844919 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.394A>G (p.Ser132Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004955013] |
Chr14:94382844 [GRCh38] Chr14:94849181 [GRCh37] Chr14:14q32.13 |
uncertain significance |
GRCh37/hg19 14q31.1-32.2(chr14:79886061-96870809)x1 |
copy number loss |
not provided [RCV004819380] |
Chr14:79886061..96870809 [GRCh37] Chr14:14q31.1-32.2 |
pathogenic |
NM_000295.5(SERPINA1):c.917+12A>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005087514] |
Chr14:94380859 [GRCh38] Chr14:94847196 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1045G>C (p.Ala349Pro) |
single nucleotide variant |
not provided [RCV005063383] |
Chr14:94379484 [GRCh38] Chr14:94845821 [GRCh37] Chr14:14q32.13 |
uncertain significance |
NM_000295.5(SERPINA1):c.549T>C (p.Asp183=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005116932] |
Chr14:94382689 [GRCh38] Chr14:94849026 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1038A>G (p.Thr346=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005117742] |
Chr14:94379491 [GRCh38] Chr14:94845828 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.243C>T (p.Ile81=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005117097] |
Chr14:94382995 [GRCh38] Chr14:94849332 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1065+10C>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005070510] |
Chr14:94379454 [GRCh38] Chr14:94845791 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.918-14T>C |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005177123] |
Chr14:94379625 [GRCh38] Chr14:94845962 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.882T>C (p.Asp294=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005207143] |
Chr14:94380906 [GRCh38] Chr14:94847243 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1066-14T>G |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005082565] |
Chr14:94378654 [GRCh38] Chr14:94844991 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.180C>T (p.Ser60=) |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005151743] |
Chr14:94383058 [GRCh38] Chr14:94849395 [GRCh37] Chr14:14q32.13 |
likely benign |
NM_000295.5(SERPINA1):c.1135del (p.Ala379fs) |
deletion |
Alpha-1-antitrypsin deficiency [RCV005163501] |
Chr14:94378571 [GRCh38] Chr14:94844908 [GRCh37] Chr14:14q32.13 |
pathogenic |
NM_000295.5(SERPINA1):c.917+1G>A |
single nucleotide variant |
Alpha-1-antitrypsin deficiency [RCV005179292] |
Chr14:94380870 [GRCh38] Chr14:94847207 [GRCh37] Chr14:14q32.13 |
pathogenic |