Total 86 pathogenic variants reported for Acute intermittent porphyria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000190.4(HMBS):c.77G>A (p.Arg26His) SNV
Germline		 Chr11:119088298 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251791 rs_118204103

4 SubmittersRCV000001508RCV000798844
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) SNV
Germline		 Chr11:119089991 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251793 rs_118204094

6 SubmittersRCV000001510RCV001212053
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) SNV
Germline		 Chr11:119091414 Pathogenic/Likely pathogenic Acute intermittent porphyria
Condition: not provided
Leukoencephalopathy, porphyria-related
Encephalopathy, porphyria-related		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251795 rs_118204095

9 SubmittersRCV000001511RCV000520560RCV003764510RCV003764509
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) SNV
Germline		 Chr11:119091432 Pathogenic Acute intermittent porphyria
Condition: not provided
Encephalopathy, porphyria-related		 Criteria Provided
Single Submitter
 CA251797 rs_118204096

2 SubmittersRCV000001512RCV001851550RCV003764511
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) SNV
Germline		 Chr11:119090230 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251799 rs_118204097

1 SubmittersRCV000001513
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) SNV
Germline		 Chr11:119090213 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251802 rs_118204098

1 SubmittersRCV000001514
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) SNV
Germline		 Chr11:119092486 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251804 rs_118204099

1 SubmittersRCV000001515
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) SNV
Germline		 Chr11:119091507 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251806 rs_118204100

1 SubmittersRCV000001518
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) SNV
Germline		 Chr11:119088638 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251809 rs_118204104

1 SubmittersRCV000001519
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) SNV
Germline		 Chr11:119088647 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251811 rs_118204105

1 SubmittersRCV000001520
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) SNV
Germline		 Chr11:119091413 Pathogenic Acute intermittent porphyria
Condition: not provided
Encephalopathy, porphyria-related		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251813 rs_118204101

5 SubmittersRCV000001521RCV000489906RCV003764512
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) SNV
Germline		 Chr11:119091414 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251815 rs_118204095

1 SubmittersRCV000001522
NM_000190.4(HMBS):c.211-1G>A SNV
Germline		 Chr11:119089216 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA382889617 rs_1565754452

1 SubmittersRCV000001526
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) SNV
Germline		 Chr11:119091515 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided
Encephalopathy, porphyria-related		 Criteria Provided
Conflicting Classifications
 CA251820 rs_118204109

8 SubmittersRCV000001527RCV000432186RCV004584591
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) SNV
Germline		 Chr11:119089747 Pathogenic/Likely pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251822 rs_118204107

3 SubmittersRCV000001529RCV001381874
NM_000190.4(HMBS):c.499-1G>A SNV
Germline		 Chr11:119091412 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA382894048 rs_1565756481

2 SubmittersRCV000001530RCV001389654
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) SNV
Germline		 Chr11:119091444 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA251824 rs_118204108

2 SubmittersRCV000001531RCV000795368
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) SNV
Germline		 Chr11:119092419 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA251826 rs_118204110

3 SubmittersRCV000001532RCV001209137
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) SNV
Germline		 Chr11:119092491 Likely pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA251828 rs_118204111

2 SubmittersRCV000001534RCV002298429
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) SNV
Germline		 Chr11:119092500 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251830 rs_118204112

1 SubmittersRCV000001536
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) SNV
Germline		 Chr11:119092507 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251834 rs_118204114

1 SubmittersRCV000001538
NM_000190.4(HMBS):c.766C>A (p.His256Asn) SNV
Germline		 Chr11:119092518 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA251836 rs_118204115

1 SubmittersRCV000001539
NM_000190.4(HMBS):c.771+1G>C SNV
Germline		 Chr11:119092524 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA382898094 rs_1565758008

1 SubmittersRCV000001540
NM_000190.4(HMBS):c.913-1G>A SNV
Germline		 Chr11:119093109 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA382899051 rs_1946325053

2 SubmittersRCV000001541RCV001851551
NM_000190.4(HMBS):c.266+1G>C SNV
Germline		 Chr11:119089273 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA382890212 rs_1565754565

1 SubmittersRCV000001542
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) SNV
Germline		 Chr11:119092159 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA251838 rs_118204116

3 SubmittersRCV000001543RCV001851552
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) SNV
Germline		 Chr11:119092958 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251840 rs_118204117

4 SubmittersRCV000001548RCV000418446
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) SNV
Germline		 Chr11:119090212 Pathogenic Acute intermittent porphyria
Condition: not provided
HMBS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251845 rs_118204120

4 SubmittersRCV000001551RCV001389642RCV003924793
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) SNV
Germline		 Chr2:219217782 Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 7
Protoporphyria, erythropoietic, 1
Condition: not provided
Variegate porphyria
Acute intermittent porphyria
ABCB6-related disorder		 Criteria Provided
Conflicting Classifications
 CA145194 rs_150221689

12 SubmittersRCV000059344RCV001731356RCV001699031RCV001731358RCV001731357RCV003974948
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) SNV
Germline		 Chr11:119089263 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided
HMBS-related disorder
Acute intermittent porphyria
Encephalopathy, porphyria-related
Leukoencephalopathy, porphyria-related
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA272879 rs_150763621

9 SubmittersRCV000148510RCV001514054RCV003927449RCV005394506RCV005888287RCV005888285RCV005888286
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) SNV
Germline		 Chr11:119091497 Pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA272877 rs_34413634

2 SubmittersRCV000148509RCV001041963
NM_000190.4(HMBS):c.962G>A (p.Arg321His) SNV
Germline		 Chr11:119093159 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA272874 rs_150428209

9 SubmittersRCV000148508RCV000730694
NM_000190.4(HMBS):c.345-9C>T SNV
Germline		 Chr11:119089981 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided
HMBS-related disorder		 Criteria Provided
Conflicting Classifications
 CA6314025 rs_772934410

3 SubmittersRCV000368824RCV002520676RCV003950016
NM_000190.4(HMBS):c.-28A>C SNV
Germline		 Chr11:119085006 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6313815 rs_201349602

6 SubmittersRCV000345889RCV000923727RCV003993924
NM_000190.4(HMBS):c.612+4G>A SNV
Germline		 Chr11:119091530 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6314093 rs_745705652

2 SubmittersRCV000319841RCV001065053
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) SNV
Germline		 Chr11:119091446 Conflicting classifications of pathogenicity Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Conflicting Classifications
 CA6314087 rs_536814318

7 SubmittersRCV000413917RCV000779045
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) SNV
Germline		 Chr11:119088651 Likely pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA229593101 rs_974712040

3 SubmittersRCV000522139RCV001254080
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) SNV
Germline		 Chr11:119085059 Conflicting classifications of pathogenicity not specified
Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6313828 rs_148084355

3 SubmittersRCV000605528RCV001102686RCV001860291
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) SNV
Germline		 Chr11:119088297 Pathogenic/Likely pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA229592849 rs_998842815

4 SubmittersRCV000799514RCV003152734
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) SNV
Germline		 Chr11:119089992 Conflicting classifications of pathogenicity Condition: not provided
Acute intermittent porphyria
Ovarian serous cystadenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA382892112 rs_1165046276

4 SubmittersRCV000799967RCV001107356RCV005901981
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) SNV
Germline		 Chr11:119091431 Pathogenic/Likely pathogenic Condition: not provided
Acute intermittent porphyria
HMBS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA229595374 rs_575222284

6 SubmittersRCV000804261RCV001198558RCV004748972
NM_000190.4(HMBS):c.612G>T (p.Gln204His) SNV
Germline		 Chr11:119091526 Pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382895036 rs_1592217847

4 SubmittersRCV000807846RCV002249519
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter) SNV
Germline		 Chr11:119092425 Pathogenic Condition: not provided
HMBS-related disorder
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382897226 rs_1325031228

5 SubmittersRCV000796426RCV003908095RCV005253130
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) SNV
Germline		 Chr11:119092983 Pathogenic/Likely pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382898850 rs_1592220915

3 SubmittersRCV000807669RCV003152735
NM_000190.4(HMBS):c.345-1G>A SNV
Germline		 Chr11:119089989 Pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382892088 rs_1286913162

3 SubmittersRCV000822122RCV005407999
NM_000190.4(HMBS):c.160+5G>C SNV
Germline		 Chr11:119088712 Pathogenic/Likely pathogenic Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA915947796 rs_1592213590

2 SubmittersRCV000855547RCV006279259
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) SNV
Germline		 Chr11:119093189 Pathogenic/Likely pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6314298 rs_770086296

4 SubmittersRCV001056204RCV001535464
NM_000190.4(HMBS):c.723C>G (p.Pro241=) SNV
Germline		 Chr11:119092475 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA229596344 rs_202067277

2 SubmittersRCV001107358RCV002069758
NM_000190.4(HMBS):c.798C>T (p.Ala266=) SNV
Germline		 Chr11:119092784 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6314205 rs_375078473

2 SubmittersRCV001108006RCV002069764
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) SNV
Germline		 Chr11:119093122 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6314285 rs_746707121

5 SubmittersRCV001108009RCV001593271
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) SNV
Germline		 Chr11:119090009 Likely pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA6314030 rs_143984293

1 SubmittersRCV001171316
NM_000190.4(HMBS):c.613-1G>A SNV
Unknown		 Chr11:119092124 Pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382896582 rs_771206317

1 SubmittersRCV001198011
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) SNV
Unknown		 Chr11:119089691 Likely pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382890512 rs_1946187914

1 SubmittersRCV001332261
NM_000190.4(HMBS):c.826-2A>T SNV
Germline		 Chr11:119092933 Pathogenic/Likely pathogenic Acute intermittent porphyria
HMBS-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382898629 rs_1946317952

5 SubmittersRCV001332263RCV003983876RCV004793436
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) SNV
Germline		 Chr11:119093170 Pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382899441 rs_2134885779

2 SubmittersRCV001382070RCV002246365
NM_000190.4(HMBS):c.210+1G>C SNV
Germline		 Chr11:119089132 Pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382889496 rs_2134859316

1 SubmittersRCV001786486
NM_000190.4(HMBS):c.211-1G>T SNV
Unknown		 Chr11:119089216 Pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382889619 rs_1565754452

1 SubmittersRCV001789607
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) SNV
Germline		 Chr2:219213284 Conflicting classifications of pathogenicity Condition: not provided
Protoporphyria, erythropoietic, 1
Variegate porphyria
Acute intermittent porphyria
Hereditary coproporphyria		 Criteria Provided
Conflicting Classifications
 CA2119237 rs_145526996

7 SubmittersRCV001700536RCV001732227RCV001732229RCV001732228RCV001732230
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser) SNV
Germline		 Chr2:219210782 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2119020 rs_541845688

2 SubmittersRCV001733864RCV002539842
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys) SNV
Germline		 Chr11:119088285 Conflicting classifications of pathogenicity Acute intermittent porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6313887 rs_189159450

2 SubmittersRCV001809135RCV001869594
NM_000190.4(HMBS):c.500G>C (p.Arg167Pro) SNV
Germline		 Chr11:119091414 Pathogenic/Likely pathogenic Condition: not provided
Encephalopathy, porphyria-related
Leukoencephalopathy, porphyria-related
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382894056 rs_118204095

2 SubmittersRCV002017727RCV005042682
NM_000190.4(HMBS):c.266+4A>T SNV
Germline		 Chr11:119089276 Conflicting classifications of pathogenicity Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Conflicting Classifications
 CA229593770 rs_1004988273

2 SubmittersRCV002018360RCV004763315
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) SNV
Germline		 Chr11:119089102 Likely pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382889248 rs_2134859037

1 SubmittersRCV002225205
NM_000190.4(HMBS):c.912+1G>C SNV
Germline		 Chr11:119093022 Pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA382899010 rs_2497475732

1 SubmittersRCV002293282
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter) SNV
Unknown		 Chr11:119091494 Likely pathogenic Acute intermittent porphyria No Assertion Criteria Provided
 CA382894721 rs_2497452998

1 SubmittersRCV003319952
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro) SNV
Germline		 Chr11:119091432 Pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382894205 rs_118204096

1 SubmittersRCV003333896
NM_000190.4(HMBS):c.643G>A (p.Val215Met) SNV
Germline		 Chr11:119092155 Pathogenic/Likely pathogenic Condition: not provided
Acute intermittent porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382896822 rs_2134876594

2 SubmittersRCV003557676RCV004818379
NM_000190.4(HMBS):c.413C>T (p.Pro138Leu) SNV
Germline		 Chr11:119090058 Likely pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382892776 rs_2497440458

1 SubmittersRCV003990487
NM_000190.4(HMBS):c.772-2A>G SNV
Germline		 Chr11:119092756 Pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter
 CA382898221 rs_2497471386

1 SubmittersRCV003994651
NM_000190.4(HMBS):c.33+1G>C SNV
Unknown		 Chr11:119085067 Pathogenic Acute intermittent porphyria Criteria Provided
Single Submitter

1 SubmittersRCV005402307