Total 44 pathogenic variants reported for X-linked sideroblastic anemia 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) SNV
Germline		 ChrX:55014757 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121074 rs_137852299

1 SubmittersRCV000011214
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) SNV
Germline		 ChrX:55015583 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121077 rs_137852300

1 SubmittersRCV000011215
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) SNV
Germline		 ChrX:55021195 Pathogenic X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA121078 rs_137852301

2 SubmittersRCV000011216RCV001857329
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) SNV
Germline		 ChrX:55017618 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121079 rs_137852302

1 SubmittersRCV000011217
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) SNV
Germline		 ChrX:55021176 Likely pathogenic Sideroblastic anemia 1, late-onset
X-linked sideroblastic anemia 1		 Criteria Provided
Single Submitter
 CA121083 rs_137852304

2 SubmittersRCV000011219RCV001729346
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) SNV
Germline		 ChrX:55021121 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121085 rs_28935484

1 SubmittersRCV003322588
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) SNV
Germline		 ChrX:55014953 Pathogenic X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA121087 rs_137852305

2 SubmittersRCV000011221RCV003555997
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) SNV
Germline		 ChrX:55009242 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121088 rs_137852306

1 SubmittersRCV000011222
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) SNV
Germline		 ChrX:55015000 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121090 rs_137852307

1 SubmittersRCV000011223
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) SNV
Germline		 ChrX:55021215 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121092 rs_137852308

1 SubmittersRCV000011224
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) SNV
Germline		 ChrX:55021215 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121093 rs_137852308

1 SubmittersRCV000011225
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) SNV
Germline		 ChrX:55013516 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121095 rs_137852309

1 SubmittersRCV000011227
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) SNV
Germline		 ChrX:55021095 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA121097 rs_137852310

1 SubmittersRCV000011230
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) SNV
Germline		 ChrX:55014830 Pathogenic X-linked sideroblastic anemia 1
Condition: not provided
ALAS2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121098 rs_137852311

4 SubmittersRCV000011231RCV000254885RCV004730841
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) SNV
Germline		 ChrX:55009187 Conflicting classifications of pathogenicity X-linked erythropoietic protoporphyria
Condition: not provided
X-linked sideroblastic anemia 1
Developmental and epileptic encephalopathy, 36		 Criteria Provided
Conflicting Classifications
 CA323962 rs_139596860

7 SubmittersRCV000033870RCV000199418RCV000990842RCV004698465
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) SNV
Germline		 ChrX:55013526 Conflicting classifications of pathogenicity not specified
X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA321966 rs_150055592

6 SubmittersRCV000197497RCV000291203RCV000955055
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) SNV
Germline		 ChrX:55013527 Conflicting classifications of pathogenicity not specified
X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA320759 rs_201062903

7 SubmittersRCV000196345RCV000990843RCV000911423
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) SNV
Germline		 ChrX:55014866 Conflicting classifications of pathogenicity Condition: not provided
X-linked sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA323834 rs_758646032

2 SubmittersRCV000199304RCV000400419
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) SNV
Germline		 Chr3:39390470 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Sideroblastic anemia 2
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2327393 rs_144149294

5 SubmittersRCV000278029RCV000330775RCV000425850RCV000968454RCV002523257
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) SNV
Germline		 Chr3:39383736 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327308 rs_142420345

4 SubmittersRCV000266145RCV000302431RCV001718735
NM_017875.4(SLC25A38):c.*304C>T SNV
Germline		 Chr3:39396824 Conflicting classifications of pathogenicity Sideroblastic anemia 2
X-linked sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA10616368 rs_113251543

1 SubmittersRCV000261187RCV000314019
NM_017875.4(SLC25A38):c.*490G>A SNV
Germline		 Chr3:39397010 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Sideroblastic anemia 2		 Criteria Provided
Conflicting Classifications
 CA10616372 rs_150889211

1 SubmittersRCV000284434RCV000337092
NM_017875.4(SLC25A38):c.-292G>A SNV
Germline		 Chr3:39383433 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10618431 rs_142441701

2 SubmittersRCV000321473RCV000376142RCV001558065
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) SNV
Germline		 Chr3:39391858 Conflicting classifications of pathogenicity Sideroblastic anemia 2
X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327474 rs_369980078

3 SubmittersRCV000302332RCV000407906RCV001718736
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) SNV
Germline		 ChrX:55020482 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10428394 rs_753156183

4 SubmittersRCV000323663RCV000842471RCV001821131
NM_000032.5(ALAS2):c.741C>T (p.His247=) SNV
Germline		 ChrX:55020402 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
not specified		 Criteria Provided
Conflicting Classifications
 CA10652017 rs_1057515971

2 SubmittersRCV000268610RCV000599912
NM_000032.5(ALAS2):c.416-11T>C SNV
Germline		 ChrX:55021285 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10652019 rs_977637650

2 SubmittersRCV000264856RCV002058831
NM_000032.5(ALAS2):c.-34C>T SNV
Germline		 ChrX:55030960 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10428530 rs_780642606

3 SubmittersRCV000383961RCV001575679RCV002248635
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) SNV
Germline		 ChrX:55014849 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10428315 rs_765603040

2 SubmittersRCV000296627RCV004725197
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) SNV
Germline		 ChrX:55013519 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10428272 rs_199826743

5 SubmittersRCV000376222RCV001572292RCV001821130
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) SNV
Germline		 ChrX:55020491 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10428396 rs_754772558

2 SubmittersRCV000359551RCV003565417
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) SNV
Germline		 ChrX:55023799 Conflicting classifications of pathogenicity not specified
Condition: not provided
X-linked sideroblastic anemia 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10428433 rs_143995220

4 SubmittersRCV000500755RCV002524146RCV003485595RCV004984920
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) SNV
Germline		 ChrX:55021182 Pathogenic X-linked sideroblastic anemia 1 No Assertion Criteria Provided
 CA413295647 rs_1557248142

1 SubmittersRCV000626482
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) SNV
Germline		 ChrX:55013586 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1602244633

2 SubmittersRCV001169626RCV003769828
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) SNV
Germline		 ChrX:55025891 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_756790340

2 SubmittersRCV001167233RCV004986860
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) SNV
Germline		 ChrX:55014802 Likely pathogenic X-linked sideroblastic anemia 1 Criteria Provided
Single Submitter
 rs_1935671225

1 SubmittersRCV001352676
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) SNV
Germline		 ChrX:55013515 Likely pathogenic X-linked sideroblastic anemia 1 Criteria Provided
Single Submitter
 rs_2146715075

1 SubmittersRCV001534614
NM_000032.5(ALAS2):c.488G>A (p.Arg163His) SNV
Germline		 ChrX:55021202 Pathogenic/Likely pathogenic X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2146722839

2 SubmittersRCV001376189RCV003145646
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) SNV
Germline		 ChrX:55020490 Conflicting classifications of pathogenicity Condition: not provided
not specified
X-linked sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 rs_185504937

5 SubmittersRCV001574411RCV001821909RCV002246436
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) SNV
Germline		 ChrX:55014940 Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_143328343

3 SubmittersRCV002279884RCV003138149
NM_000032.5(ALAS2):c.680G>A (p.Arg227His) SNV
Germline		 ChrX:55020463 Conflicting classifications of pathogenicity Condition: not provided
X-linked sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003141300RCV004786878
NM_000032.5(ALAS2):c.-15-2188A>G SNV
Germline		 ChrX:55028203 Likely pathogenic X-linked sideroblastic anemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV003226058
NM_000032.5(ALAS2):c.304+2T>A SNV
Germline		 ChrX:55024716 Likely pathogenic X-linked sideroblastic anemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004017207
NM_000032.5(ALAS2):c.-15-2187T>C SNV
Germline		 ChrX:55028202 Pathogenic X-linked sideroblastic anemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004789924