Total 74 pathogenic variants reported for Alexander disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) SNV
Germline		 Chr17:44913334 Pathogenic Alexander disease
Condition: not provided
GFAP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217208 rs_58064122

15 SubmittersRCV000017550RCV000056898RCV004748526
NM_002055.5(GFAP):c.716G>A (p.Arg239His) SNV
Germline		 Chr17:44913333 Pathogenic Alexander disease
Condition: not provided
Spastic paraplegia, intellectual disability, nystagmus, and obesity		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217209 rs_59565950

10 SubmittersRCV000017551RCV000056899RCV004786269
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) SNV
Germline		 Chr17:44908075 Pathogenic Alexander disease
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217140 rs_121909717

9 SubmittersRCV000017552RCV000056848RCV001267511
NM_002055.5(GFAP):c.236G>A (p.Arg79His) SNV
Germline/somatic		 Chr17:44915251 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217167 rs_59285727

10 SubmittersRCV000017553RCV000056869
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) SNV
Germline		 Chr17:44915252 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217166 rs_59793293

7 SubmittersRCV000017554RCV000056868
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) SNV
Germline		 Chr17:44915225 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217183 rs_61622935

11 SubmittersRCV000017555RCV000056879
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) SNV
Germline		 Chr17:44915225 Pathogenic Alexander disease
Condition: not provided		 No Assertion Criteria Provided
 CA217182 rs_61622935

3 SubmittersRCV000017556RCV000056878
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) SNV
Germline		 Chr17:44915261 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Single Submitter
 CA217160 rs_57120761

4 SubmittersRCV000017557RCV000056863
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr) SNV
Germline		 Chr17:44915258 Pathogenic Alexander disease
Condition: not provided		 No Assertion Criteria Provided
 CA217161 rs_58732244

3 SubmittersRCV000017558RCV000056864
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp) SNV
Germline		 Chr17:44911277 Pathogenic Alexander disease
Condition: not provided		 No Assertion Criteria Provided
 CA217107 rs_121909718

3 SubmittersRCV000017559RCV000056825
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) SNV
Germline		 Chr17:44911751 Pathogenic Alexander disease
Condition: not provided		 No Assertion Criteria Provided
 CA217223 rs_121909719

3 SubmittersRCV000017560RCV000056910
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) SNV
Germline		 Chr17:44911308 Pathogenic Alexander disease
Condition: not provided		 No Assertion Criteria Provided
 CA217100 rs_28932769

3 SubmittersRCV000017561RCV000056820
NM_002055.5(GFAP):c.234C>A (p.Asp78Glu) SNV
Germline		 Chr17:44915253 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Single Submitter
 CA341388 rs_121909720

3 SubmittersRCV000017562RCV003556033
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) SNV
Germline		 Chr17:44911293 Likely pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217101 rs_267607515

3 SubmittersRCV000056821RCV000192157
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) SNV
Germline		 Chr17:44911287 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217104 rs_267607511

3 SubmittersRCV000056823RCV000192161
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) SNV
Germline		 Chr17:44911284 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217105 rs_62636501

3 SubmittersRCV000056824RCV000192162
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) SNV
Germline		 Chr17:44911267 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217111 rs_58008462

4 SubmittersRCV000056828RCV000192167
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) SNV
Germline		 Chr17:44911246 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217118 rs_58075601

3 SubmittersRCV000056833RCV000192173
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) SNV
Germline		 Chr17:44911237 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217122 rs_267607512

4 SubmittersRCV000056837RCV000192177
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) SNV
Germline		 Chr17:44910629 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217130 rs_61726471

3 SubmittersRCV000056842RCV000192181
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) SNV
Germline		 Chr17:44915279 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217151 rs_60343255

6 SubmittersRCV000056855RCV000192100
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) SNV
Germline		 Chr17:44915278 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease		 Criteria Provided
Conflicting Classifications
 CA217152 rs_267607510

6 SubmittersRCV000056856RCV000192099
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) SNV
Germline		 Chr17:44915257 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217162 rs_57590980

4 SubmittersRCV000056865RCV000192107
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) SNV
Germline		 Chr17:44915252 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217165 rs_59793293

3 SubmittersRCV000056867RCV000192109
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) SNV
Germline		 Chr17:44915251 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217169 rs_59285727

3 SubmittersRCV000056871RCV000192112
NM_002055.5(GFAP):c.259G>C (p.Val87Leu) SNV
Germline		 Chr17:44915228 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217178 rs_267607518

4 SubmittersRCV000056876RCV000192118
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) SNV
Germline		 Chr17:44915105 Pathogenic/Likely pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217191 rs_267607509

6 SubmittersRCV000056885RCV000192126
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) SNV
Germline		 Chr17:44913733 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease		 Criteria Provided
Conflicting Classifications
 CA217197 rs_267607507

4 SubmittersRCV000056889RCV000192127
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) SNV
Germline		 Chr17:44913382 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease		 Criteria Provided
Conflicting Classifications
 CA217204 rs_56679084

8 SubmittersRCV000056895RCV000192131
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) SNV
Germline		 Chr17:44913345 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217206 rs_60269890

3 SubmittersRCV000056896RCV000192133
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) SNV
Germline		 Chr17:44913333 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217211 rs_59565950

4 SubmittersRCV000056901RCV000192137
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) SNV
Germline		 Chr17:44913291 Pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Single Submitter
 CA217217 rs_61726470

3 SubmittersRCV000056905RCV000192141
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) SNV
Germline		 Chr17:44911369 Pathogenic Condition: not provided
Alexander disease		 No Assertion Criteria Provided
 CA217236 rs_267607514

2 SubmittersRCV000056919RCV000192154
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe) SNV
Germline		 Chr17:44908128 Pathogenic Alexander disease No Assertion Criteria Provided
 CA347233 rs_267607508

1 SubmittersRCV000192183
NM_002055.5(GFAP):c.1171+472G>A SNV
Germline		 Chr17:44910143 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA347239 rs_748860341

3 SubmittersRCV000192190RCV000479024
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) SNV
Germline		 Chr17:44910632 Pathogenic/Likely pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347231 rs_797044590

7 SubmittersRCV000192180RCV000479686
NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly) SNV
Germline		 Chr17:44911278 Pathogenic Alexander disease No Assertion Criteria Provided
 CA347224 rs_797044588

1 SubmittersRCV000192163
NM_002055.5(GFAP):c.803C>A (p.Ala268Asp) SNV
Germline		 Chr17:44911775 Pathogenic Alexander disease No Assertion Criteria Provided
 CA347210 rs_797044582

1 SubmittersRCV000192148
NM_002055.5(GFAP):c.799G>C (p.Ala267Pro) SNV
Germline		 Chr17:44911779 Pathogenic Alexander disease Criteria Provided
Single Submitter
 CA347209 rs_797044581

2 SubmittersRCV000192147
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) SNV
Germline		 Chr17:44911787 Pathogenic Alexander disease Criteria Provided
Single Submitter
 CA347206 rs_797044579

2 SubmittersRCV000192145
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) SNV
Germline		 Chr17:44913277 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347204 rs_797044578

3 SubmittersRCV000192143RCV002472960
NM_002055.5(GFAP):c.259G>A (p.Val87Ile) SNV
Germline		 Chr17:44915228 Pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347191 rs_267607518

3 SubmittersRCV000192117RCV001850427
NM_002055.5(GFAP):c.218T>C (p.Met73Thr) SNV
Germline		 Chr17:44915269 Pathogenic Alexander disease Criteria Provided
Single Submitter
 CA347186 rs_61060395

2 SubmittersRCV000192103
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) SNV
Germline		 Chr17:44915282 Likely pathogenic Alexander disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347184 rs_797044570

3 SubmittersRCV000192098RCV001200224
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) SNV
Germline		 Chr17:44915290 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA347183 rs_797044569

7 SubmittersRCV000192097RCV001288188
NM_002055.5(GFAP):c.1171+420C>T SNV
Germline		 Chr17:44910195 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8608701 rs_180974014

2 SubmittersRCV000490317RCV002054358
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) SNV
Germline		 Chr17:44915158 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8609062 rs_147282497

7 SubmittersRCV000363054RCV000675417
NM_002055.5(GFAP):c.215A>G (p.Glu72Gly) SNV
Germline		 Chr17:44915272 Likely pathogenic Alexander disease No Assertion Criteria Provided
 CA16043694 rs_1057518685

1 SubmittersRCV000414950
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) SNV
Germline		 Chr17:44911685 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease
GFAP-related disorder
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA8608836 rs_760672791

6 SubmittersRCV000487859RCV002489186RCV003392316RCV003243147RCV005434965
NM_002055.5(GFAP):c.252C>G (p.Ile84Met) SNV
Germline		 Chr17:44915235 Likely pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA399848618 rs_571151302

2 SubmittersRCV000498900RCV002051858
NM_002055.5(GFAP):c.625C>T (p.Arg209Trp) SNV
Germline		 Chr17:44913424 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8608894 rs_146725018

6 SubmittersRCV000675414RCV005400460RCV004972846
NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys) SNV
Germline		 Chr17:44911238 Likely pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399843303 rs_1567773470

1 SubmittersRCV000722139
NM_002055.5(GFAP):c.242C>A (p.Ala81Asp) SNV
Germline		 Chr17:44915245 Pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399848662 rs_1597864461

1 SubmittersRCV000789012
NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile) SNV
Unknown		 Chr17:44908086 Likely pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399838855 rs_1597853099

1 SubmittersRCV000989932
NM_002055.5(GFAP):c.1171+473C>A SNV
Germline		 Chr17:44910142 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA645576197 rs_775524073

3 SubmittersRCV000993764RCV003769327
NM_002055.5(GFAP):c.1171+472G>C SNV
Germline		 Chr17:44910143 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8608682 rs_748860341

2 SubmittersRCV001198883RCV002560258
NM_002055.5(GFAP):c.217A>G (p.Met73Val) SNV
Somatic		 Chr17:44915270 Pathogenic Alexander disease No Assertion Criteria Provided
 CA399848761 rs_2145642617

1 SubmittersRCV001527383
NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys) SNV
Germline		 Chr17:44911252 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease		 Criteria Provided
Conflicting Classifications
 CA399843382 rs_267607526

2 SubmittersRCV002569019RCV001563640
NM_002055.5(GFAP):c.706A>G (p.Lys236Glu) SNV
Germline		 Chr17:44913343 Likely pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399845737 rs_2145637388

1 SubmittersRCV001725869
NM_002055.5(GFAP):c.1087A>G (p.Ile363Val) SNV
Germline		 Chr17:44911276 Pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399843481 rs_2145632673

1 SubmittersRCV002250013
NM_002055.5(GFAP):c.368T>C (p.Leu123Pro) SNV
Germline		 Chr17:44915119 Likely pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399848237 rs_2508948888

1 SubmittersRCV002463390
NM_002055.5(GFAP):c.371G>A (p.Arg124Gln) SNV
Germline		 Chr17:44915116 Conflicting classifications of pathogenicity Alexander disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA399848233 rs_1185404768

2 SubmittersRCV002471745RCV002573617
NM_002055.5(GFAP):c.287C>T (p.Ala96Val) SNV
Germline		 Chr17:44915200 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Alexander disease		 Criteria Provided
Conflicting Classifications
 CA8609071 rs_552590923

3 SubmittersRCV003063324RCV003068783RCV003485812
NM_002055.5(GFAP):c.1127G>A (p.Arg376Gln) SNV
Germline		 Chr17:44911236 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease		 Criteria Provided
Conflicting Classifications
 CA399843291 rs_2508933141

2 SubmittersRCV002880280RCV006546125
NM_002055.5(GFAP):c.219G>A (p.Met73Ile) SNV
Germline		 Chr17:44915268 Likely pathogenic Condition: not provided
Alexander disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA399848755 rs_2508949861

2 SubmittersRCV003062100RCV006696489
NM_002055.5(GFAP):c.227T>C (p.Leu76Pro) SNV
Germline		 Chr17:44915260 Likely pathogenic Alexander disease Criteria Provided
Single Submitter
 CA399848715 rs_2508949801

1 SubmittersRCV003883277
NM_002055.5(GFAP):c.621G>T (p.Glu207Asp) SNV
Germline		 Chr17:44913428 Likely pathogenic Alexander disease Criteria Provided
Single Submitter
 CA8608895 rs_759844035

1 SubmittersRCV004547288
NM_002055.5(GFAP):c.1106T>C (p.Leu369Pro) SNV
Germline		 Chr17:44911257 Pathogenic Alexander disease Criteria Provided
Single Submitter

1 SubmittersRCV004759648
NM_002055.5(GFAP):c.370C>T (p.Arg124Trp) SNV
Germline		 Chr17:44915117 Conflicting classifications of pathogenicity Condition: not provided
Alexander disease		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004770487RCV006454827
NM_002055.5(GFAP):c.650G>A (p.Arg217Gln) SNV
Germline		 Chr17:44913399 Conflicting classifications of pathogenicity Inborn genetic diseases
Alexander disease		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004982461RCV005400570
NM_002055.5(GFAP):c.808C>G (p.Arg270Gly) SNV
Germline		 Chr17:44911770 Likely pathogenic Alexander disease Criteria Provided
Single Submitter

1 SubmittersRCV005250460
NM_002055.5(GFAP):c.241G>C (p.Ala81Pro) SNV
Germline		 Chr17:44915246 Likely pathogenic Alexander disease Criteria Provided
Single Submitter

1 SubmittersRCV005252192
NM_002055.5(GFAP):c.1072G>A (p.Ala358Thr) SNV
Germline		 Chr17:44911291 Likely pathogenic Alexander disease Criteria Provided
Single Submitter

1 SubmittersRCV006257876