ABCA7 — 514 ClinVar variants
All ClinVar germline ABCA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 375 flagged for review →
3 Pathogenic · 21 Likely pathogenic · 11 Conflicting · 33 Benign · 4 Benign/Likely benign · 77 Likely benign · 365 Uncertain significance
Full ABCA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 375
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 174
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 174
-
ABCA7 p.Lys1521Gln
Uncertain significance
Multiple submitters
Alzheimer disease 9
- ABCA7 p.Pro364Arg Uncertain significance Multiple submitters
- ABCA7 p.Ala1108Val Uncertain significance Single submitter
- ABCA7 p.Ala1241Thr Uncertain significance Single submitter
- ABCA7 p.Ala1287Gly Uncertain significance Single submitter
- ABCA7 p.Ala1294Val Uncertain significance Single submitter
- ABCA7 p.Ala1304Ser Uncertain significance Single submitter
- ABCA7 p.Ala1460Val Uncertain significance Single submitter
- ABCA7 p.Ala1490Val Uncertain significance Single submitter
- ABCA7 p.Ala1935Ser Uncertain significance Single submitter
- ABCA7 p.Ala196Val Uncertain significance Single submitter
- ABCA7 p.Ala2018Val Uncertain significance Single submitter
- ABCA7 p.Ala2066Val Uncertain significance Single submitter
-
ABCA7 p.Ala2075Glu
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Ala430Thr Uncertain significance Single submitter
- ABCA7 p.Ala648Val Uncertain significance Single submitter
- ABCA7 p.Ala742Glu Uncertain significance Single submitter
- ABCA7 p.Ala784Gly Uncertain significance Single submitter
- ABCA7 p.Ala799Glu Uncertain significance Single submitter
- ABCA7 p.Arg1061Lys Uncertain significance Single submitter
- ABCA7 p.Arg1353Gln Uncertain significance Single submitter
- ABCA7 p.Arg1354His Uncertain significance Single submitter
- ABCA7 p.Arg1385Trp Uncertain significance Single submitter
- ABCA7 p.Arg1397Cys Uncertain significance Single submitter
- ABCA7 p.Arg1422Gln Uncertain significance Single submitter
- ABCA7 p.Arg1453Gly Uncertain significance Single submitter
- ABCA7 p.Arg1698Leu Uncertain significance Single submitter
- ABCA7 p.Arg1705Gln Uncertain significance Single submitter
- ABCA7 p.Arg1715Leu Uncertain significance Single submitter
- ABCA7 p.Arg1848Ser Uncertain significance Single submitter
- ABCA7 p.Arg198Ser Uncertain significance Single submitter
- ABCA7 p.Arg2056His Uncertain significance Single submitter
- ABCA7 p.Arg2056Ser Uncertain significance Single submitter
- ABCA7 p.Arg402Gln Uncertain significance Single submitter
- ABCA7 p.Arg433Gln Uncertain significance Single submitter
- ABCA7 p.Arg524Gln Uncertain significance Single submitter
- ABCA7 p.Arg548Leu Uncertain significance Single submitter
- ABCA7 p.Arg571Pro Uncertain significance Single submitter
- ABCA7 p.Arg770Gln Uncertain significance Single submitter
- ABCA7 p.Arg810Pro Uncertain significance Single submitter
- ABCA7 p.Arg873Cys Uncertain significance Single submitter
- ABCA7 p.Asn1381Lys Uncertain significance Single submitter
- ABCA7 p.Asn239Lys Uncertain significance Single submitter
- ABCA7 p.Asn522Ile Uncertain significance Single submitter
- ABCA7 p.Asp1173Gly Uncertain significance Single submitter
- ABCA7 p.Asp1920Glu Uncertain significance Single submitter
- ABCA7 p.Asp2109Gly Uncertain significance Single submitter
- ABCA7 p.Asp245Tyr Uncertain significance Single submitter
- ABCA7 p.Asp260Glu Uncertain significance Single submitter
- ABCA7 p.Asp260Val Uncertain significance Single submitter
- ABCA7 p.Asp618Asn Uncertain significance Single submitter
- ABCA7 p.Asp921Glu Uncertain significance Single submitter
- ABCA7 p.Cys1359Arg Uncertain significance Single submitter
- ABCA7 p.Cys1541Tyr Uncertain significance Single submitter
- ABCA7 p.Cys599Arg Uncertain significance Single submitter
- ABCA7 p.Cys599Gly Uncertain significance Single submitter
- ABCA7 p.Cys755Phe Uncertain significance Single submitter
- ABCA7 p.Gln1201Arg Uncertain significance Single submitter
- ABCA7 p.Gln1606Arg Uncertain significance Single submitter
- ABCA7 p.Gln1904Arg Uncertain significance Single submitter
- ABCA7 p.Gln2134His Uncertain significance Single submitter
- ABCA7 p.Gln959Glu Uncertain significance Single submitter
- ABCA7 p.Glu1951Lys Uncertain significance Single submitter
- ABCA7 p.Glu1987Asp Uncertain significance Single submitter
- ABCA7 p.Glu572Asp Uncertain significance Single submitter
- ABCA7 p.Glu900Lys Uncertain significance Single submitter
-
ABCA7 p.Gly1133Arg
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Gly1305Glu Uncertain significance Single submitter
- ABCA7 p.Gly1364Ser Uncertain significance Single submitter
- ABCA7 p.Gly1421Ala Uncertain significance Single submitter
- ABCA7 p.Gly2014Arg Uncertain significance Single submitter
- ABCA7 p.Gly365Arg Uncertain significance Single submitter
- ABCA7 p.Gly394Glu Uncertain significance Single submitter
- ABCA7 p.Gly460Ala Uncertain significance Single submitter
- ABCA7 p.Gly501Ser Uncertain significance Single submitter
- ABCA7 p.Gly501Val Uncertain significance Single submitter
- ABCA7 p.Gly660Asp Uncertain significance Single submitter
- ABCA7 p.Gly720Ser Uncertain significance Single submitter
- ABCA7 p.Gly846Asp Uncertain significance Single submitter
- ABCA7 p.Gly846Cys Uncertain significance Single submitter
- ABCA7 p.Gly869Val Uncertain significance Single submitter
- ABCA7 p.Gly977Ser Uncertain significance Single submitter
- ABCA7 p.His1481Asp Uncertain significance Single submitter
- ABCA7 p.His1693Arg Uncertain significance Single submitter
- ABCA7 p.His2077Gln Uncertain significance Single submitter
- ABCA7 p.His2128Asp Uncertain significance Single submitter
- ABCA7 p.His939Tyr Uncertain significance Single submitter
- ABCA7 p.Ile1597Val Uncertain significance Single submitter
- ABCA7 p.Ile1658Thr Uncertain significance Single submitter
- ABCA7 p.Ile1878Met Uncertain significance Single submitter
- ABCA7 p.Ile1878Thr Uncertain significance Single submitter
- ABCA7 p.Ile619Asn Uncertain significance Single submitter
- ABCA7 p.Ile978Val Uncertain significance Single submitter
-
ABCA7 p.Ile992Val
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Leu1271Phe Uncertain significance Single submitter
- ABCA7 p.Leu1301Pro Uncertain significance Single submitter
- ABCA7 p.Leu1700Phe Uncertain significance Single submitter
- ABCA7 p.Leu2126Val Uncertain significance Single submitter
- ABCA7 p.Leu655Val Uncertain significance Single submitter
- ABCA7 p.Leu812Gln Uncertain significance Single submitter
- ABCA7 p.Leu824Pro Uncertain significance Single submitter
- ABCA7 p.Leu827Pro Uncertain significance Single submitter
- ABCA7 p.Leu857Val Uncertain significance Single submitter
- ABCA7 p.Leu883Pro Uncertain significance Single submitter
- ABCA7 p.Leu991Gln Uncertain significance Single submitter
- ABCA7 p.Lys573Asn Uncertain significance Single submitter
- ABCA7 p.Met1634Ile Uncertain significance Single submitter
- ABCA7 p.Met1956Thr Uncertain significance Single submitter
- ABCA7 p.Met1979Ile Uncertain significance Single submitter
- ABCA7 p.Met308Ile Uncertain significance Single submitter
- ABCA7 p.Met581Arg Uncertain significance Single submitter
- ABCA7 p.Phe1282Tyr Uncertain significance Single submitter
- ABCA7 p.Phe1486Ser Uncertain significance Single submitter
- ABCA7 p.Phe1602Leu Uncertain significance Single submitter
- ABCA7 p.Phe1605Ile Uncertain significance Single submitter
- ABCA7 p.Phe2057Leu Uncertain significance Single submitter
- ABCA7 p.Phe440Leu Uncertain significance Single submitter
- ABCA7 p.Phe831Ser Uncertain significance Single submitter
- ABCA7 p.Phe866Leu Uncertain significance Single submitter
- ABCA7 p.Phe893Leu Uncertain significance Single submitter
- ABCA7 p.Pro1273Ala Uncertain significance Single submitter
- ABCA7 p.Pro1273Leu Uncertain significance Single submitter
- ABCA7 p.Pro1368Leu Uncertain significance Single submitter
- ABCA7 p.Pro1516Ser Uncertain significance Single submitter
- ABCA7 p.Pro1550Leu Uncertain significance Single submitter
- ABCA7 p.Pro1692Ser Uncertain significance Single submitter
- ABCA7 p.Pro1819Arg Uncertain significance Single submitter
- ABCA7 p.Pro2124Arg Uncertain significance Single submitter
- ABCA7 p.Pro2124Ser Uncertain significance Single submitter
- ABCA7 p.Pro278Ser Uncertain significance Single submitter
- ABCA7 p.Pro486Arg Uncertain significance Single submitter
- ABCA7 p.Pro535Arg Uncertain significance Single submitter
- ABCA7 p.Pro621Leu Uncertain significance Single submitter
- ABCA7 p.Pro768Leu Uncertain significance Single submitter
- ABCA7 p.Pro780Ser Uncertain significance Single submitter
- ABCA7 p.Pro785Ala Uncertain significance Single submitter
- ABCA7 p.Pro787Ala Uncertain significance Single submitter
- ABCA7 p.Pro792Ala Uncertain significance Single submitter
- ABCA7 p.Pro820Arg Uncertain significance Single submitter
- ABCA7 p.Ser1281Tyr Uncertain significance Single submitter
- ABCA7 p.Ser1418Trp Uncertain significance Single submitter
- ABCA7 p.Ser1428Leu Uncertain significance Single submitter
- ABCA7 p.Ser1847Ile Uncertain significance Single submitter
- ABCA7 p.Ser1959Asn Uncertain significance Single submitter
- ABCA7 p.Ser2140Thr Uncertain significance Single submitter
- ABCA7 p.Ser231Asn Uncertain significance Single submitter
- ABCA7 p.Ser268Trp Uncertain significance Single submitter
- ABCA7 p.Ser549Leu Uncertain significance Single submitter
-
ABCA7 p.Ser598Arg
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Ser828Arg Uncertain significance Single submitter
Predictors split 198
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 198
- ABCA7 p.Ala2045Ser Benign Multiple submitters
- ABCA7 p.Ala414Gly Benign Multiple submitters
- ABCA7 p.Arg1026Cys Uncertain significance Multiple submitters
- ABCA7 p.Arg1237His Benign Multiple submitters
- ABCA7 p.Arg463His Benign Multiple submitters
- ABCA7 p.Arg652Cys Uncertain significance Multiple submitters
-
ABCA7 p.Arg880Trp
Uncertain significance
Multiple submitters
Alzheimer disease 9
- ABCA7 p.Asn718Thr Benign Multiple submitters
- ABCA7 p.Asp1452Asn Uncertain significance Multiple submitters
-
ABCA7 p.Asp2085Asn
Uncertain significance
Multiple submitters
Alzheimer disease 9
- ABCA7 p.Gln758His Benign Multiple submitters
- ABCA7 p.Val1599Met Likely benign Multiple submitters
- ABCA7 p.Val562Met Uncertain significance Multiple submitters
- ABCA7 p.Ala1080Thr Uncertain significance Single submitter
- ABCA7 p.Ala1108Thr Uncertain significance Single submitter
- ABCA7 p.Ala1125Val Uncertain significance Single submitter
- ABCA7 p.Ala1299Val Uncertain significance Single submitter
- ABCA7 p.Ala1493Ser Uncertain significance Single submitter
- ABCA7 p.Ala1712Thr Uncertain significance Single submitter
- ABCA7 p.Ala1919Ser Likely benign Single submitter
- ABCA7 p.Ala1919Thr Uncertain significance Single submitter
- ABCA7 p.Ala1960Thr Uncertain significance Single submitter
- ABCA7 p.Ala2040Pro Uncertain significance Single submitter
- ABCA7 p.Ala589Val Likely benign Single submitter
- ABCA7 p.Ala653Val Uncertain significance Single submitter
- ABCA7 p.Ala657Val Uncertain significance Single submitter
- ABCA7 p.Ala696Ser Uncertain significance Single submitter
- ABCA7 p.Ala747Thr Uncertain significance Single submitter
- ABCA7 p.Ala878Val Uncertain significance Single submitter
- ABCA7 p.Arg1123Gln Likely benign Single submitter
- ABCA7 p.Arg1123Gly Uncertain significance Single submitter
- ABCA7 p.Arg1123Trp Uncertain significance Single submitter
- ABCA7 p.Arg1210Trp Uncertain significance Single submitter
- ABCA7 p.Arg1218His Likely benign Single submitter
- ABCA7 p.Arg1233Cys Uncertain significance Single submitter
- ABCA7 p.Arg1234His Uncertain significance Single submitter
- ABCA7 p.Arg1295Trp Uncertain significance Single submitter
-
ABCA7 p.Arg1453His
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Arg1496Cys Uncertain significance Single submitter
- ABCA7 p.Arg1682Trp Uncertain significance Single submitter
- ABCA7 p.Arg1726Cys Uncertain significance Single submitter
- ABCA7 p.Arg1778His Likely benign Single submitter
- ABCA7 p.Arg1782Gly Uncertain significance Single submitter
- ABCA7 p.Arg1812Cys Uncertain significance Single submitter
- ABCA7 p.Arg1885Cys Uncertain significance Single submitter
- ABCA7 p.Arg1912Leu Uncertain significance Single submitter
- ABCA7 p.Arg1921Gln Uncertain significance Single submitter
-
ABCA7 p.Arg1976Ser
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Arg198Cys Conflicting Single submitter
- ABCA7 p.Arg19Trp Uncertain significance Single submitter
- ABCA7 p.Arg2131His Uncertain significance Single submitter
- ABCA7 p.Arg281His Uncertain significance Single submitter
- ABCA7 p.Arg281Leu Uncertain significance Single submitter
- ABCA7 p.Arg286Cys Uncertain significance Single submitter
- ABCA7 p.Arg334Trp Uncertain significance Single submitter
- ABCA7 p.Arg350Trp Uncertain significance Single submitter
- ABCA7 p.Arg497Pro Uncertain significance Single submitter
- ABCA7 p.Arg512Ser Uncertain significance Single submitter
- ABCA7 p.Arg516Pro Uncertain significance Single submitter
- ABCA7 p.Arg578Trp Uncertain significance Single submitter
- ABCA7 p.Arg588Leu Uncertain significance Single submitter
- ABCA7 p.Arg810Leu Uncertain significance Single submitter
- ABCA7 p.Arg825Gly Conflicting Single submitter
- ABCA7 p.Arg825Pro Uncertain significance Single submitter
- ABCA7 p.Arg880Gln Uncertain significance Single submitter
- ABCA7 p.Arg922Cys Uncertain significance Single submitter
- ABCA7 p.Asn1457Tyr Uncertain significance Single submitter
- ABCA7 p.Asn79Thr Uncertain significance Single submitter
- ABCA7 p.Asn890Thr Uncertain significance Single submitter
- ABCA7 p.Asp1389Gly Uncertain significance Single submitter
- ABCA7 p.Asp1876Asn Uncertain significance Single submitter
- ABCA7 p.Asp579Gly Uncertain significance Single submitter
- ABCA7 p.Asp618Tyr Uncertain significance Single submitter
- ABCA7 p.Asp726Tyr Likely benign Single submitter
- ABCA7 p.Asp871His Uncertain significance Single submitter
- ABCA7 p.Asp999Ala Uncertain significance Single submitter
- ABCA7 p.Cys1019Gly Uncertain significance Single submitter
- ABCA7 p.Cys755Arg Uncertain significance Single submitter
- ABCA7 p.Gln531His Uncertain significance Single submitter
- ABCA7 p.Gln936His Uncertain significance Single submitter
- ABCA7 p.Glu1063Lys Uncertain significance Single submitter
- ABCA7 p.Glu1093Lys Uncertain significance Single submitter
- ABCA7 p.Glu1140Lys Uncertain significance Single submitter
- ABCA7 p.Glu1303Lys Uncertain significance Single submitter
- ABCA7 p.Glu1728Gln Uncertain significance Single submitter
- ABCA7 p.Glu1850Gln Uncertain significance Single submitter
-
ABCA7 p.Glu1850Lys
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Glu1889Lys Uncertain significance Single submitter
- ABCA7 p.Glu188Asp Uncertain significance Single submitter
- ABCA7 p.Glu511Asp Uncertain significance Single submitter
- ABCA7 p.Glu712Lys Uncertain significance Single submitter
- ABCA7 p.Glu919Lys Uncertain significance Single submitter
- ABCA7 p.Gly1190Arg Uncertain significance Single submitter
- ABCA7 p.Gly1351Ser Uncertain significance Single submitter
- ABCA7 p.Gly1449Arg Uncertain significance Single submitter
- ABCA7 p.Gly1502Val Uncertain significance Single submitter
- ABCA7 p.Gly1573Asp Uncertain significance Single submitter
- ABCA7 p.Gly1804Ala Uncertain significance Single submitter
- ABCA7 p.Gly1804Val Uncertain significance Single submitter
-
ABCA7 p.Gly1820Ser
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Gly1928Arg Uncertain significance Single submitter
- ABCA7 p.Gly1929Glu Uncertain significance Single submitter
- ABCA7 p.Gly2078Arg Uncertain significance Single submitter
- ABCA7 p.Gly502Ser Uncertain significance Single submitter
- ABCA7 p.Gly520Ser Uncertain significance Single submitter
- ABCA7 p.Gly626Asp Uncertain significance Single submitter
- ABCA7 p.Gly660Ser Uncertain significance Single submitter
- ABCA7 p.Gly698Ser Uncertain significance Single submitter
- ABCA7 p.Gly760Arg Uncertain significance Single submitter
- ABCA7 p.Gly802Arg Uncertain significance Single submitter
- ABCA7 p.His2011Tyr Uncertain significance Single submitter
- ABCA7 p.Ile1558Thr Uncertain significance Single submitter
-
ABCA7 p.Leu101Arg
Conflicting
Single submitter
amyotrophic lateral sclerosis
- ABCA7 p.Leu1079Pro Uncertain significance Single submitter
- ABCA7 p.Leu1127Pro Uncertain significance Single submitter
- ABCA7 p.Leu1225Phe Uncertain significance Single submitter
- ABCA7 p.Leu1439Met Uncertain significance Single submitter
- ABCA7 p.Leu1458Ile Uncertain significance Single submitter
- ABCA7 p.Leu1578Pro Uncertain significance Single submitter
- ABCA7 p.Leu1656Ile Uncertain significance Single submitter
- ABCA7 p.Leu1934Val Uncertain significance Single submitter
- ABCA7 p.Leu2136Phe Uncertain significance Single submitter
- ABCA7 p.Leu246Val Uncertain significance Single submitter
- ABCA7 p.Leu373Arg Uncertain significance Single submitter
- ABCA7 p.Leu373Gln Uncertain significance Single submitter
- ABCA7 p.Leu396Arg Uncertain significance Single submitter
- ABCA7 p.Leu509Gln Uncertain significance Single submitter
- ABCA7 p.Leu586Phe Uncertain significance Single submitter
- ABCA7 p.Leu591Ile Uncertain significance Single submitter
- ABCA7 p.Leu803Arg Uncertain significance Single submitter
- ABCA7 p.Leu812Met Uncertain significance Single submitter
- ABCA7 p.Leu857His Uncertain significance Single submitter
- ABCA7 p.Lys1329Asn Uncertain significance Single submitter
- ABCA7 p.Met1634Val Uncertain significance Single submitter
- ABCA7 p.Met1869Val Uncertain significance Single submitter
- ABCA7 p.Phe1390Leu Uncertain significance Single submitter
- ABCA7 p.Phe1713Leu Uncertain significance Single submitter
- ABCA7 p.Phe603Leu Uncertain significance Single submitter
- ABCA7 p.Pro1261Ser Uncertain significance Single submitter
- ABCA7 p.Pro1767Leu Uncertain significance Single submitter
- ABCA7 p.Pro1819Leu Uncertain significance Single submitter
- ABCA7 p.Pro1898Leu Uncertain significance Single submitter
-
ABCA7 p.Pro455Leu
Uncertain significance
Single submitter
Alzheimer disease 9
- ABCA7 p.Pro779His Uncertain significance Single submitter
- ABCA7 p.Pro780His Uncertain significance Single submitter
- ABCA7 p.Pro789Leu Likely benign Single submitter
- ABCA7 p.Pro800Leu Uncertain significance Single submitter
- ABCA7 p.Pro817Ser Uncertain significance Single submitter
- ABCA7 p.Pro820Thr Uncertain significance Single submitter
- ABCA7 p.Pro822Arg Uncertain significance Single submitter
All ABCA7 variants
Pathogenic 3
- c.67-1G>A Single submitter Alzheimer disease 9
- p.Gln1083Ter Single submitter ABCA7-related disorder
- p.Thr849fs Single submitter Alzheimer disease 9
Likely pathogenic 21
- c.1048-2A>C Single submitter
- c.1622+2_1622+3del Single submitter
- c.3423+1G>T Single submitter Alzheimer disease 9
- c.4417-1G>C Single submitter ABCA7-related disorder
- p.Arg578fs Single submitter Alzheimer disease 9
- p.Arg93fs Single submitter
- p.Asp1389delinsProValTer Single submitter Alzheimer disease 9
- p.Gln1183Ter Single submitter Alzheimer disease 9
- p.Glu1679Ter Single submitter Alzheimer disease 9
- p.Glu572fs Single submitter Alzheimer disease 9
- p.Gly776Ter Single submitter
- p.Pro1246fs Single submitter Alzheimer disease 9
- p.Ser1135fs Single submitter ABCA7-related disorder
- p.Ser446fs Single submitter
- p.Thr337fs Single submitter
- p.Trp1085Ter Single submitter Alzheimer disease 9
- p.Trp1336Ter Single submitter
- p.Val898fs Single submitter ABCA7-related disorder
- p.Arg1754Ter No assertion criteria ABCA7-related disorder
- p.Asp1950fs No assertion criteria ABCA7-related disorder
- p.Glu269Ter No assertion criteria ABCA7-related disorder
Conflicting classifications of pathogenicity 11
- c.3727-6C>T Single submitter
- c.5570+5G>C Single submitter Alzheimer disease 9
- p.Ala1207Thr Single submitter ⚠
- p.Arg198Cys Single submitter ⚠
- p.Arg825Gly Single submitter ⚠
- p.Glu2041Ala Single submitter ⚠
- p.Leu101Arg Single submitter amyotrophic lateral sclerosis ⚠
- p.Leu1403fs Single submitter
- p.Leu396fs Single submitter neuromuscular disease
- p.Trp1214Ter Single submitter Alzheimer disease 9
- p.Val541Met Single submitter ⚠
Benign 33
- c.3472+4C>T Multiple submitters
- c.5401-18A>G Multiple submitters
- p.Ala1467= Multiple submitters
- p.Ala2045Ser Multiple submitters ⚠
- p.Ala414Gly Multiple submitters ⚠
- p.Ala676Thr Multiple submitters
- p.Arg1237His Multiple submitters ⚠
- p.Arg1505His Multiple submitters
- p.Arg463His Multiple submitters ⚠
- p.Asn718Thr Multiple submitters ⚠
- p.Gln1686Arg Multiple submitters
- p.Gln758His Multiple submitters ⚠
- p.Glu188Gly Multiple submitters
- p.Leu795= Multiple submitters
- p.Pro1503= Multiple submitters
- p.Pro152Leu Multiple submitters
- p.Tyr241= Multiple submitters
- p.Val915= Multiple submitters
- c.2685-4G>T Single submitter
- c.2963-9C>T Single submitter
- c.3147+9C>T Single submitter
- c.4880+11dup Single submitter
- p.Glu2084= Single submitter
- p.Gly1770Glu Single submitter
- p.Leu669= Single submitter
- c.4417-7del No assertion criteria ABCA7-related disorder
- c.790+10T>G No assertion criteria ABCA7-related disorder
- c.-9A>G No assertion criteria ABCA7-related disorder
- p.Ala1864= No assertion criteria ABCA7-related disorder
- p.Glu167= No assertion criteria ABCA7-related disorder
- p.Glu2108Lys No assertion criteria ABCA7-related disorder ⚠
- p.Leu1139= No assertion criteria ABCA7-related disorder
- p.Ser1723Leu No assertion criteria ABCA7-related disorder ⚠
Benign/Likely benign 4
- p.Cys786= Multiple submitters
- p.Glu1679= Multiple submitters
- p.Met354Thr Multiple submitters Alzheimer disease 9
- p.Ser1629Leu Multiple submitters Alzheimer disease 9
Likely benign 77
- p.Arg165= Multiple submitters
- p.Cys1988Phe Multiple submitters
- p.Val1599Met Multiple submitters ⚠
- c.1445+9A>T Single submitter
- c.160+10C>G Single submitter
- c.2068-4G>T Single submitter
- c.303-4C>G Single submitter
- c.3148-4G>A Single submitter
- c.3148-5C>T Single submitter
- c.3851+10G>A Single submitter
- c.3950+18C>T Single submitter
- c.3950+7C>T Single submitter
- c.5713-7C>T Single submitter
- c.579+5G>A Single submitter
- c.6285+18G>A Single submitter
- p.Ala1207= Single submitter
- p.Ala1919Ser Single submitter ⚠
- p.Ala2123= Single submitter
- p.Ala525= Single submitter
- p.Ala589Val Single submitter ⚠
- p.Ala634= Single submitter
- p.Ala742Val Single submitter
- p.Arg1123Gln Single submitter ⚠
- p.Arg1177Gln Single submitter
- p.Arg1218His Single submitter ⚠
- p.Arg1400His Single submitter
- p.Arg1778His Single submitter ⚠
- p.Arg204Gln Single submitter
- p.Arg2131= Single submitter
- p.Arg325Gln Single submitter
- p.Arg480= Single submitter
- p.Arg680Gln Single submitter
- p.Asp726Tyr Single submitter ⚠
- p.Cys1150Ser Single submitter
- p.Gln387Arg Single submitter
- p.Glu1560= Single submitter
- p.Gly1070= Single submitter
- p.Gly1374Ser Single submitter
- p.Gly2105= Single submitter
- p.Gly251Arg Single submitter
- p.His901= Single submitter
- p.Ile1690Thr Single submitter
- p.Ile853= Single submitter
- p.Leu106= Single submitter
- p.Leu1938Val Single submitter
- p.Leu318= Single submitter
- p.Leu33Pro Single submitter
- p.Leu614= Single submitter
- p.Leu9= Single submitter
- p.Pro1181Leu Single submitter
- p.Pro1396= Single submitter
- p.Pro1632= Single submitter
- p.Pro682= Single submitter
- p.Pro789Leu Single submitter ⚠
- p.Pro817= Single submitter
- p.Ser1857= Single submitter
- p.Ser643= Single submitter
- p.Thr1106Met Single submitter ⚠
- p.Thr80= Single submitter
- p.Val1244Met Single submitter ⚠
- p.Val234Gly Single submitter
- p.Val885Ile Single submitter
- p.Ala1441= No assertion criteria ABCA7-related disorder
- p.Ala589= No assertion criteria ABCA7-related disorder
- p.Ala689= No assertion criteria ABCA7-related disorder
- p.Arg1349Trp No assertion criteria Flexion contracture
- p.Arg1912= No assertion criteria ABCA7-related disorder
- p.Arg976= No assertion criteria ABCA7-related disorder
- p.Asp964Glu No assertion criteria ABCA7-related disorder
- p.Gly1013= No assertion criteria ABCA7-related disorder
- p.Gly863= No assertion criteria ABCA7-related disorder
- p.His1508= No assertion criteria ABCA7-related disorder
- p.Leu1297= No assertion criteria ABCA7-related disorder
- p.Phe2071Cys No assertion criteria ABCA7-related disorder
- p.Pro2009= No assertion criteria ABCA7-related disorder
- p.Thr1841= No assertion criteria ABCA7-related disorder
- p.Val1643Met No assertion criteria ABCA7-related disorder ⚠
Uncertain significance 365
Showing the top 300 by review status; the full set is in the sitemap.
- c.3578-2A>G Multiple submitters
- p.Arg1026Cys Multiple submitters ⚠
- p.Arg652Cys Multiple submitters ⚠
- p.Arg880Trp Multiple submitters Alzheimer disease 9 ⚠
- p.Asp1452Asn Multiple submitters ⚠
- p.Asp2085Asn Multiple submitters Alzheimer disease 9 ⚠
- p.Lys1521Gln Multiple submitters Alzheimer disease 9 ⚠
- p.Pro364Arg Multiple submitters ⚠
- p.Val562Met Multiple submitters ⚠
- c.161-2A>T Single submitter Alzheimer disease 9
- c.3852-2A>C Single submitter Alzheimer disease 9
- c.4416+2T>G Single submitter
- c.4764+5G>A Single submitter
- p.Ala1080Thr Single submitter ⚠
- p.Ala1108Thr Single submitter ⚠
- p.Ala1108Val Single submitter ⚠
- p.Ala1125Val Single submitter ⚠
- p.Ala1241Thr Single submitter ⚠
- p.Ala1287Gly Single submitter ⚠
- p.Ala1294Val Single submitter ⚠
- p.Ala1299Val Single submitter ⚠
- p.Ala1304Ser Single submitter ⚠
- p.Ala1460Val Single submitter ⚠
- p.Ala1490Val Single submitter ⚠
- p.Ala1493Ser Single submitter ⚠
- p.Ala1712Thr Single submitter ⚠
- p.Ala1919Thr Single submitter ⚠
- p.Ala1935Ser Single submitter ⚠
- p.Ala1960Thr Single submitter ⚠
- p.Ala196Val Single submitter ⚠
- p.Ala2018Val Single submitter ⚠
- p.Ala2040Pro Single submitter ⚠
- p.Ala2066Val Single submitter ⚠
- p.Ala2075Glu Single submitter Alzheimer disease 9 ⚠
- p.Ala430Thr Single submitter ⚠
- p.Ala648Val Single submitter ⚠
- p.Ala653Val Single submitter ⚠
- p.Ala657Val Single submitter ⚠
- p.Ala696Ser Single submitter ⚠
- p.Ala742Glu Single submitter ⚠
- p.Ala747Thr Single submitter ⚠
- p.Ala784Gly Single submitter ⚠
- p.Ala799Glu Single submitter ⚠
- p.Ala878Val Single submitter ⚠
- p.Arg1061Lys Single submitter ⚠
- p.Arg1123Gly Single submitter ⚠
- p.Arg1123Trp Single submitter ⚠
- p.Arg1210Trp Single submitter ⚠
- p.Arg1233Cys Single submitter ⚠
- p.Arg1234His Single submitter ⚠
- p.Arg1237= Single submitter
- p.Arg1295Trp Single submitter ⚠
- p.Arg1353Gln Single submitter ⚠
- p.Arg1354His Single submitter ⚠
- p.Arg1385Trp Single submitter ⚠
- p.Arg1397Cys Single submitter ⚠
- p.Arg1422Gln Single submitter ⚠
- p.Arg1453Gly Single submitter ⚠
- p.Arg1453His Single submitter Alzheimer disease 9 ⚠
- p.Arg1496Cys Single submitter ⚠
- p.Arg1682Trp Single submitter ⚠
- p.Arg1698Leu Single submitter ⚠
- p.Arg1705Gln Single submitter ⚠
- p.Arg1715Leu Single submitter ⚠
- p.Arg1726Cys Single submitter ⚠
- p.Arg1782Gly Single submitter ⚠
- p.Arg1812Cys Single submitter ⚠
- p.Arg1848Ser Single submitter ⚠
- p.Arg1885Cys Single submitter ⚠
- p.Arg1912Leu Single submitter ⚠
- p.Arg1921Gln Single submitter ⚠
- p.Arg1976Ser Single submitter Alzheimer disease 9 ⚠
- p.Arg198Ser Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg2056His Single submitter ⚠
- p.Arg2056Ser Single submitter ⚠
- p.Arg2131His Single submitter ⚠
- p.Arg281His Single submitter ⚠
- p.Arg281Leu Single submitter ⚠
- p.Arg286Cys Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg402Gln Single submitter ⚠
- p.Arg433Gln Single submitter ⚠
- p.Arg497Pro Single submitter ⚠
- p.Arg512Ser Single submitter ⚠
- p.Arg516Pro Single submitter ⚠
- p.Arg524Gln Single submitter ⚠
- p.Arg548Leu Single submitter ⚠
- p.Arg571Pro Single submitter ⚠
- p.Arg578Trp Single submitter ⚠
- p.Arg588Leu Single submitter ⚠
- p.Arg770Gln Single submitter ⚠
- p.Arg810Leu Single submitter ⚠
- p.Arg810Pro Single submitter ⚠
- p.Arg825Pro Single submitter ⚠
- p.Arg873Cys Single submitter ⚠
- p.Arg880Gln Single submitter ⚠
- p.Arg922Cys Single submitter ⚠
- p.Asn1381Lys Single submitter ⚠
- p.Asn1457Tyr Single submitter ⚠
- p.Asn239Lys Single submitter ⚠
- p.Asn522Ile Single submitter ⚠
- p.Asn79Thr Single submitter ⚠
- p.Asn890Thr Single submitter ⚠
- p.Asp1173Gly Single submitter ⚠
- p.Asp1389Gly Single submitter ⚠
- p.Asp1876Asn Single submitter ⚠
- p.Asp1920Glu Single submitter ⚠
- p.Asp2109Gly Single submitter ⚠
- p.Asp245Tyr Single submitter ⚠
- p.Asp260Glu Single submitter ⚠
- p.Asp260Val Single submitter ⚠
- p.Asp579Gly Single submitter ⚠
- p.Asp618Asn Single submitter ⚠
- p.Asp618Tyr Single submitter ⚠
- p.Asp871His Single submitter ⚠
- p.Asp921Glu Single submitter ⚠
- p.Asp999Ala Single submitter ⚠
- p.Cys1019Gly Single submitter ⚠
- p.Cys1359Arg Single submitter ⚠
- p.Cys1541Tyr Single submitter ⚠
- p.Cys599Arg Single submitter ⚠
- p.Cys599Gly Single submitter ⚠
- p.Cys755Arg Single submitter ⚠
- p.Cys755Phe Single submitter ⚠
- p.Gln1201Arg Single submitter ⚠
- p.Gln1606Arg Single submitter ⚠
- p.Gln1904Arg Single submitter ⚠
- p.Gln2134His Single submitter ⚠
- p.Gln349Ter Single submitter neuromuscular disease
- p.Gln531His Single submitter ⚠
- p.Gln925Ter Single submitter
- p.Gln936His Single submitter ⚠
- p.Gln959Glu Single submitter ⚠
- p.Glu1063Lys Single submitter ⚠
- p.Glu1093Lys Single submitter ⚠
- p.Glu1140Lys Single submitter ⚠
- p.Glu1303Lys Single submitter ⚠
- p.Glu1728Gln Single submitter ⚠
- p.Glu1850Gln Single submitter ⚠
- p.Glu1850Lys Single submitter Alzheimer disease 9 ⚠
- p.Glu1889Lys Single submitter ⚠
- p.Glu188Asp Single submitter ⚠
- p.Glu1951Lys Single submitter ⚠
- p.Glu1987Asp Single submitter ⚠
- p.Glu2046fs Single submitter
- p.Glu511Asp Single submitter ⚠
- p.Glu572Asp Single submitter ⚠
- p.Glu712Lys Single submitter ⚠
- p.Glu900Lys Single submitter ⚠
- p.Glu919Lys Single submitter ⚠
- p.Gly1133Arg Single submitter Alzheimer disease 9 ⚠
- p.Gly1190Arg Single submitter ⚠
- p.Gly1305Glu Single submitter ⚠
- p.Gly1351Ser Single submitter ⚠
- p.Gly1364Ser Single submitter ⚠
- p.Gly1421Ala Single submitter ⚠
- p.Gly1449Arg Single submitter ⚠
- p.Gly1502Val Single submitter ⚠
- p.Gly1573Asp Single submitter ⚠
- p.Gly1804Ala Single submitter ⚠
- p.Gly1804Val Single submitter ⚠
- p.Gly1820Ser Single submitter Alzheimer disease 9 ⚠
- p.Gly1928Arg Single submitter ⚠
- p.Gly1929Glu Single submitter ⚠
- p.Gly2014Arg Single submitter ⚠
- p.Gly2078Arg Single submitter ⚠
- p.Gly365Arg Single submitter ⚠
- p.Gly394Glu Single submitter ⚠
- p.Gly460Ala Single submitter ⚠
- p.Gly501Ser Single submitter ⚠
- p.Gly501Val Single submitter ⚠
- p.Gly502Ser Single submitter ⚠
- p.Gly520Ser Single submitter ⚠
- p.Gly626Asp Single submitter ⚠
- p.Gly660Asp Single submitter ⚠
- p.Gly660Ser Single submitter ⚠
- p.Gly698Ser Single submitter ⚠
- p.Gly720Ser Single submitter ⚠
- p.Gly760Arg Single submitter ⚠
- p.Gly802Arg Single submitter ⚠
- p.Gly846Asp Single submitter ⚠
- p.Gly846Cys Single submitter ⚠
- p.Gly846fs Single submitter
- p.Gly869Val Single submitter ⚠
- p.Gly977Ser Single submitter ⚠
- p.His1481Asp Single submitter ⚠
- p.His1693Arg Single submitter ⚠
- p.His2011Tyr Single submitter ⚠
- p.His2077Gln Single submitter ⚠
- p.His2128Asp Single submitter ⚠
- p.His939Tyr Single submitter ⚠
- p.Ile1558Thr Single submitter ⚠
- p.Ile1597Val Single submitter ⚠
- p.Ile1658Thr Single submitter ⚠
- p.Ile1878Met Single submitter ⚠
- p.Ile1878Thr Single submitter ⚠
- p.Ile619Asn Single submitter ⚠
- p.Ile978Val Single submitter ⚠
- p.Ile992Val Single submitter Alzheimer disease 9 ⚠
- p.Leu1079Pro Single submitter ⚠
- p.Leu1127Pro Single submitter ⚠
- p.Leu1225Phe Single submitter ⚠
- p.Leu1271Phe Single submitter ⚠
- p.Leu1301Pro Single submitter ⚠
- p.Leu1439Met Single submitter ⚠
- p.Leu1458Ile Single submitter ⚠
- p.Leu1578Pro Single submitter ⚠
- p.Leu1656Ile Single submitter ⚠
- p.Leu1700Phe Single submitter ⚠
- p.Leu1934Val Single submitter ⚠
- p.Leu2126Val Single submitter ⚠
- p.Leu2136Phe Single submitter ⚠
- p.Leu246Val Single submitter ⚠
- p.Leu373Arg Single submitter ⚠
- p.Leu373Gln Single submitter ⚠
- p.Leu396Arg Single submitter ⚠
- p.Leu509Gln Single submitter ⚠
- p.Leu586Phe Single submitter ⚠
- p.Leu591Ile Single submitter ⚠
- p.Leu655Val Single submitter ⚠
- p.Leu803Arg Single submitter ⚠
- p.Leu812Gln Single submitter ⚠
- p.Leu812Met Single submitter ⚠
- p.Leu824Pro Single submitter ⚠
- p.Leu827Pro Single submitter ⚠
- p.Leu857His Single submitter ⚠
- p.Leu857Val Single submitter ⚠
- p.Leu883Pro Single submitter ⚠
- p.Leu991Gln Single submitter ⚠
- p.Lys1329Asn Single submitter ⚠
- p.Lys573Asn Single submitter ⚠
- p.Met1634Ile Single submitter ⚠
- p.Met1634Val Single submitter ⚠
- p.Met1869Val Single submitter ⚠
- p.Met1956Thr Single submitter ⚠
- p.Met1979Ile Single submitter ⚠
- p.Met308Ile Single submitter ⚠
- p.Met581Arg Single submitter ⚠
- p.Phe1282Tyr Single submitter ⚠
- p.Phe1390Leu Single submitter ⚠
- p.Phe1486Ser Single submitter ⚠
- p.Phe1602Leu Single submitter ⚠
- p.Phe1605Ile Single submitter ⚠
- p.Phe1713Leu Single submitter ⚠
- p.Phe2057Leu Single submitter ⚠
- p.Phe440Leu Single submitter ⚠
- p.Phe603Leu Single submitter ⚠
- p.Phe831Ser Single submitter ⚠
- p.Phe866Leu Single submitter ⚠
- p.Phe893Leu Single submitter ⚠
- p.Pro1205fs Single submitter
- p.Pro1261Ser Single submitter ⚠
- p.Pro1273Ala Single submitter ⚠
- p.Pro1273Leu Single submitter ⚠
- p.Pro1367fs Single submitter Alzheimer disease 9
- p.Pro1368Leu Single submitter ⚠
- p.Pro1516Ser Single submitter ⚠
- p.Pro1550Leu Single submitter ⚠
- p.Pro1692Ser Single submitter ⚠
- p.Pro1767Leu Single submitter ⚠
- p.Pro1819Arg Single submitter ⚠
- p.Pro1819Leu Single submitter ⚠
- p.Pro1898Leu Single submitter ⚠
- p.Pro2124Arg Single submitter ⚠
- p.Pro2124Ser Single submitter ⚠
- p.Pro2129fs Single submitter Alzheimer disease 9
- p.Pro278Ser Single submitter ⚠
- p.Pro455Leu Single submitter Alzheimer disease 9 ⚠
- p.Pro486Arg Single submitter ⚠
- p.Pro535Arg Single submitter ⚠
- p.Pro621Leu Single submitter ⚠
- p.Pro768Leu Single submitter ⚠
- p.Pro779His Single submitter ⚠
- p.Pro780His Single submitter ⚠
- p.Pro780Ser Single submitter ⚠
- p.Pro785Ala Single submitter ⚠
- p.Pro787Ala Single submitter ⚠
- p.Pro792Ala Single submitter ⚠
- p.Pro800Leu Single submitter ⚠
- p.Pro817Ser Single submitter ⚠
- p.Pro820Arg Single submitter ⚠
- p.Pro820Thr Single submitter ⚠
- p.Pro822Arg Single submitter ⚠
- p.Pro860Ser Single submitter ⚠
- p.Pro887Leu Single submitter ⚠
- p.Pro918Arg Single submitter ⚠
- p.Pro972Leu Single submitter ⚠
- p.Ser1281Tyr Single submitter ⚠
- p.Ser1418Trp Single submitter ⚠
- p.Ser1428Leu Single submitter ⚠
- p.Ser1847Ile Single submitter ⚠
- p.Ser1959Asn Single submitter ⚠
- p.Ser2089Asn Single submitter ⚠
- p.Ser2140Thr Single submitter ⚠
- p.Ser226Asn Single submitter ⚠
- p.Ser231Asn Single submitter ⚠
- p.Ser232Cys Single submitter ⚠
- p.Ser268Trp Single submitter ⚠