ClinVar for MedGen (Select 56452) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25750551.	NM_000190.4(HMBS):c.580C>T (p.Gln194Ter) GRCh37: Chr11:118962204 GRCh38: Chr11:119091494	HMBS	Q177, Q194	Acute intermittent porphyria	Likely pathogenic	no assertion criteria provided
Select item 17111862.	NM_000190.4(HMBS):c.912+1G>C GRCh37: Chr11:118963732 GRCh38: Chr11:119093022	HMBS		Acute intermittent porphyria	Pathogenic (Feb 7, 2021)	no assertion criteria provided
Select item 16786043.	NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) GRCh37: Chr11:118959812 GRCh38: Chr11:119089102	HMBS	D44Y, D61Y	Acute intermittent porphyria	Likely pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 14218524.	NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) GRCh37: Chr11:118963186 GRCh38: Chr11:119092476	HMBS	E225K, E242K	not provided, Acute intermittent porphyria	Uncertain significance (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13417555.	NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp) GRCh37: Chr11:118963970 GRCh38: Chr11:119093260	HMBS	R298W, R315W, R338W, R355W	not provided, Acute intermittent porphyria	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13339206.	NM_000190.4(HMBS):c.64C>T (p.Arg22Cys) GRCh37: Chr11:118958995 GRCh38: Chr11:119088285	HMBS	R5C, R22C	not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 13339097.	NM_000190.4(HMBS):c.232A>T (p.Thr78Ser) GRCh37: Chr11:118959948 GRCh38: Chr11:119089238	HMBS	T61S, T78S	Acute intermittent porphyria	Uncertain significance (Apr 8, 2019)	criteria provided, single submitter
Select item 13031268.	NM_000190.4(HMBS):c.584G>A (p.Arg195His) GRCh37: Chr11:118962208 GRCh38: Chr11:119091498	HMBS	R178H, R195H	Acute intermittent porphyria, not provided	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13019979.	NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser) GRCh37: Chr2:220075504 GRCh38: Chr2:219210782	ABCB6	G683S, G729S	Acute intermittent porphyria, not provided	Conflicting interpretations of pathogenicity (Mar 17, 2022)	criteria provided, conflicting interpretations
Select item 130199610.	NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) GRCh37: Chr2:220078652 GRCh38: Chr2:219213930	ABCB6	A446T, A492T	Protoporphyria, erythropoietic, 1, not provided, Variegate porphyria, Hereditary coproporphyria, Acute intermittent porphyria	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128464611.	NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) GRCh37: Chr2:220078006 GRCh38: Chr2:219213284	ABCB6	G542S, G588S	Protoporphyria, erythropoietic, 1, not provided, Hereditary coproporphyria, Variegate porphyria, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 122769412.	NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) GRCh37: Chr2:220080845 GRCh38: Chr2:219216123	ABCB6	R297Q, R343Q	Protoporphyria, erythropoietic, 1, not provided, Acute intermittent porphyria	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116409513.	NM_000190.4(HMBS):c.211-1G>T GRCh37: Chr11:118959926 GRCh38: Chr11:119089216	HMBS		Acute intermittent porphyria	Pathogenic (May 27, 2021)	criteria provided, single submitter
Select item 112022214.	NM_000190.4(HMBS):c.210+1G>C GRCh37: Chr11:118959842 GRCh38: Chr11:119089132	HMBS		Acute intermittent porphyria	Pathogenic (Mar 9, 2021)	criteria provided, single submitter
Select item 107004815.	NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) GRCh37: Chr11:118963880 GRCh38: Chr11:119093170	HMBS	R268, R285, R308, R325	Acute intermittent porphyria, not provided	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103065916.	NM_000190.4(HMBS):c.826-2A>T GRCh37: Chr11:118963643 GRCh38: Chr11:119092933	HMBS		Acute intermittent porphyria	Pathogenic/Likely pathogenic (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103065717.	NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) GRCh37: Chr11:118960401 GRCh38: Chr11:119089691	HMBS	L75P, L92P	Acute intermittent porphyria	Likely pathogenic (Feb 3, 2020)	criteria provided, single submitter
Select item 94382118.	NM_000190.4(HMBS):c.186G>C (p.Lys62Asn) GRCh37: Chr11:118959817 GRCh38: Chr11:119089107	HMBS	K45N, K62N	not provided, Acute intermittent porphyria	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93184419.	NM_000190.4(HMBS):c.13G>A (p.Gly5Ser) GRCh37: Chr11:118955756 GRCh38: Chr11:119085046	HMBS	G5S	Acute intermittent porphyria	Uncertain significance (Dec 7, 2018)	criteria provided, single submitter
Select item 93145520.	NM_000190.4(HMBS):c.613-1G>A GRCh37: Chr11:118962834 GRCh38: Chr11:119092124	HMBS		Acute intermittent porphyria	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 91584221.	NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) GRCh37: Chr11:118960719 GRCh38: Chr11:119090009	HMBS	A122P, A105P	Acute intermittent porphyria	Likely pathogenic (Feb 27, 2020)	criteria provided, single submitter
Select item 88003422.	NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) GRCh37: Chr11:118963832 GRCh38: Chr11:119093122	HMBS	P292S, P309S, P252S, P269S	not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 88003323.	NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) GRCh37: Chr11:118963708 GRCh38: Chr11:119092998	HMBS	A240S, A280S, A297S, A257S	Acute intermittent porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88003224.	NM_000190.4(HMBS):c.885G>A (p.Met295Ile) GRCh37: Chr11:118963704 GRCh38: Chr11:119092994	HMBS	M295I, M238I, M278I, M255I	not provided, Acute intermittent porphyria	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88003125.	NM_000190.4(HMBS):c.798C>T (p.Ala266=) GRCh37: Chr11:118963494 GRCh38: Chr11:119092784	HMBS		not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 88003026.	NM_000190.4(HMBS):c.768C>A (p.His256Gln) GRCh37: Chr11:118963230 GRCh38: Chr11:119092520	HMBS	H256Q, H239Q	not provided, Acute intermittent porphyria	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87966527.	NM_000190.4(HMBS):c.723C>G (p.Pro241=) GRCh37: Chr11:118963185 GRCh38: Chr11:119092475	HMBS		not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 87966428.	NM_000190.4(HMBS):c.654G>A (p.Gly218=) GRCh37: Chr11:118963116 GRCh38: Chr11:119092406	HMBS		Acute intermittent porphyria	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87723529.	NM_000190.4(HMBS):c.*153G>A GRCh37: Chr11:118964146 GRCh38: Chr11:119093436	HMBS		Acute intermittent porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87723430.	NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) GRCh37: Chr11:118963881 GRCh38: Chr11:119093171	HMBS	R308Q, R285Q, R325Q, R268Q	Acute intermittent porphyria	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 85174431.	NM_000190.4(HMBS):c.992C>T (p.Ala331Val) GRCh37: Chr11:118963899 GRCh38: Chr11:119093189	HMBS	A314V, A291V, A331V, A274V	not provided	Likely pathogenic (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76958832.	NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) GRCh37: Chr2:220081503 GRCh38: Chr2:219216781	ABCB6	R247C, R201C	not provided, Acute intermittent porphyria, Protoporphyria, erythropoietic, 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71591233.	NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) GRCh37: Chr11:118959391 GRCh38: Chr11:119088681	HMBS	S45L, S28L	not provided, Acute intermittent porphyria	Benign/Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69428034.	NM_000190.4(HMBS):c.160+5G>C GRCh37: Chr11:118959422 GRCh38: Chr11:119088712	HMBS		Acute intermittent porphyria	Pathogenic (Mar 17, 2019)	criteria provided, single submitter
Select item 68973135.	NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) GRCh37: Chr11:118963117 GRCh38: Chr11:119092407	HMBS	A219S, A202S	not provided, Acute intermittent porphyria	Uncertain significance (Feb 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 65342736.	NM_000190.4(HMBS):c.219_220del (p.Ser75fs) GRCh37: Chr11:118959931-118959932 GRCh38: Chr11:119089221-119089222	HMBS	S58fs, S75fs	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 65231437.	NM_000190.4(HMBS):c.612G>T (p.Gln204His) GRCh37: Chr11:118962236 GRCh38: Chr11:119091526	HMBS	Q187H, Q204H	not provided	Pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 65216638.	NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) GRCh37: Chr11:118963693 GRCh38: Chr11:119092983	HMBS	Q235, Q252, Q292, Q275	Acute intermittent porphyria, not provided	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64934839.	NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) GRCh37: Chr11:118962141 GRCh38: Chr11:119091431	HMBS	R173W, R156W	not provided, Acute intermittent porphyria	Pathogenic/Likely pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64580940.	NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) GRCh37: Chr11:118960702 GRCh38: Chr11:119089992	HMBS	R116Q, R99Q	not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Apr 16, 2022)	criteria provided, conflicting interpretations
Select item 64544341.	NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) GRCh37: Chr11:118959007 GRCh38: Chr11:119088297	HMBS	R26C, R9C	Acute intermittent porphyria, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 61790442.	NM_000190.4(HMBS):c.891dup (p.Thr298fs) GRCh37: Chr11:118963709-118963710 GRCh38: Chr11:119092999-119093000	HMBS	T241fs, T298fs, T281fs, T258fs	Acute intermittent porphyria	Likely pathogenic (Nov 21, 2018)	criteria provided, single submitter
Select item 54966243.	NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) GRCh37: Chr11:118963984-118964038 GRCh38: Chr11:119093274-119093328	HMBS	A303fs, A320fs, A343fs, A360fs	Acute intermittent porphyria	Pathogenic (May 20, 2017)	criteria provided, single submitter
Select item 52257844.	NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) GRCh37: Chr11:118963127-118963156 GRCh38: Chr11:119092417-119092446	HMBS		Acute intermittent porphyria	Pathogenic	criteria provided, single submitter
Select item 51099545.	NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) GRCh37: Chr11:118955769 GRCh38: Chr11:119085059	HMBS	A9E	not specified, not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 48882346.	NM_000190.4(HMBS):c.771G>A (p.Leu257=) GRCh37: Chr11:118963233 GRCh38: Chr11:119092523	HMBS		not provided	Uncertain significance (Dec 6, 2017)	criteria provided, single submitter
Select item 45252547.	NM_000190.4(HMBS):c.737G>A (p.Arg246His) GRCh37: Chr11:118963199 GRCh38: Chr11:119092489	HMBS	R229H, R246H	not provided, Acute intermittent porphyria	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45042548.	NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) GRCh37: Chr11:118959417 GRCh38: Chr11:119088707	HMBS	I37L, I54L	not provided, Acute intermittent porphyria	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44946549.	NM_000190.4(HMBS):c.104C>T (p.Thr35Met) GRCh37: Chr11:118959361 GRCh38: Chr11:119088651	HMBS	T18M, T35M	not provided, Acute intermittent porphyria	Likely pathogenic (Nov 16, 2017)	criteria provided, multiple submitters, no conflicts
Select item 44547750.	NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) GRCh37: Chr2:220078564 GRCh38: Chr2:219213842	ABCB6	T521S, T475S	not specified, Protoporphyria, erythropoietic, 1, not provided, Variegate porphyria, Hereditary coproporphyria, Acute intermittent porphyria	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44106951.	NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) GRCh37: Chr1:161138340 GRCh38: Chr1:161168550	PPOX	I197T, I35T, I164T, I61T	Acute intermittent porphyria	not provided	no assertion provided
Select item 37495352.	NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) GRCh37: Chr11:118963511 GRCh38: Chr11:119092801	HMBS	K215T, K232T, K255T, K272T	Acute intermittent porphyria	Uncertain significance (Mar 30, 2016)	no assertion criteria provided
Select item 37408453.	NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) GRCh37: Chr11:118960753 GRCh38: Chr11:119090043	HMBS		Abdominal pain, Visual loss, Mood changes, Fever, Vomiting, Acute intermittent porphyria	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 37237954.	NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) GRCh37: Chr11:118962156 GRCh38: Chr11:119091446	HMBS	D161N, D178N	not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Nov 13, 2022)	criteria provided, conflicting interpretations
Select item 36894055.	NM_001382.4(DPAGT1):c.*159G>A GRCh37: Chr11:118967549 GRCh38: Chr11:119096839	DPAGT1, HMBS		Acute intermittent porphyria, DPAGT1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34697956.	NM_000097.7(CPOX):c.814A>C (p.Asn272His) GRCh37: Chr3:98307696 GRCh38: Chr3:98588852	CPOX	N272H	not provided, Hereditary coproporphyria	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30274557.	NM_001382.4(DPAGT1):c.*184G>A GRCh37: Chr11:118967524 GRCh38: Chr11:119096814	DPAGT1, HMBS		Congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation, Acute intermittent porphyria, not provided	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30274458.	NM_001382.4(DPAGT1):c.*265A>G GRCh37: Chr11:118967443 GRCh38: Chr11:119096733	DPAGT1, HMBS		Congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 30274159.	NM_001382.4(DPAGT1):c.*417T>C GRCh37: Chr11:118967291 GRCh38: Chr11:119096581	DPAGT1, HMBS		Congenital disorder of glycosylation, Acute intermittent porphyria, DPAGT1-congenital disorder of glycosylation, not provided	Benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30274060.	NM_001382.4(DPAGT1):c.*427T>G GRCh37: Chr11:118967281 GRCh38: Chr11:119096571	DPAGT1, HMBS		Congenital disorder of glycosylation, Acute intermittent porphyria, DPAGT1-congenital disorder of glycosylation, not provided	Conflicting interpretations of pathogenicity (May 24, 2021)	criteria provided, conflicting interpretations
Select item 30273861.	NM_000190.4(HMBS):c.*194A>G GRCh37: Chr11:118964187 GRCh38: Chr11:119093477	HMBS		Acute intermittent porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30273762.	NM_000190.4(HMBS):c.*101G>A GRCh37: Chr11:118964094 GRCh38: Chr11:119093384	HMBS		Acute intermittent porphyria	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30273663.	NM_000190.4(HMBS):c.*94T>C GRCh37: Chr11:118964087 GRCh38: Chr11:119093377	HMBS		Acute intermittent porphyria	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30273564.	NM_000190.4(HMBS):c.1026G>A (p.Leu342=) GRCh37: Chr11:118963933 GRCh38: Chr11:119093223	HMBS		Acute intermittent porphyria, not provided	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30273465.	NM_000190.4(HMBS):c.1020C>T (p.Asn340=) GRCh37: Chr11:118963927 GRCh38: Chr11:119093217	HMBS		Acute intermittent porphyria, not provided	Benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30273366.	NM_000190.4(HMBS):c.723C>T (p.Pro241=) GRCh37: Chr11:118963185 GRCh38: Chr11:119092475	HMBS		Acute intermittent porphyria, not provided	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30273267.	NM_000190.4(HMBS):c.717C>T (p.His239=) GRCh37: Chr11:118963179 GRCh38: Chr11:119092469	HMBS		Acute intermittent porphyria, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30273168.	NM_000190.4(HMBS):c.615C>G (p.Ile205Met) GRCh37: Chr11:118962837 GRCh38: Chr11:119092127	HMBS	I205M, I188M	Acute intermittent porphyria, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30273069.	NM_000190.4(HMBS):c.612+4G>A GRCh37: Chr11:118962240 GRCh38: Chr11:119091530	HMBS		not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 30272970.	NM_000190.4(HMBS):c.345-9C>T GRCh37: Chr11:118960691 GRCh38: Chr11:119089981	HMBS		not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Jan 13, 2022)	criteria provided, conflicting interpretations
Select item 30272871.	NM_000190.4(HMBS):c.303C>T (p.Pro101=) GRCh37: Chr11:118960429 GRCh38: Chr11:119089719	HMBS		not provided, Acute intermittent porphyria	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30272772.	NM_000190.4(HMBS):c.210+5C>A GRCh37: Chr11:118959846 GRCh38: Chr11:119089136	HMBS		not provided, Acute intermittent porphyria	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30272673.	NM_000190.4(HMBS):c.135G>A (p.Ser45=) GRCh37: Chr11:118959392 GRCh38: Chr11:119088682	HMBS		not provided, Acute intermittent porphyria	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30272574.	NM_000190.4(HMBS):c.105G>C (p.Thr35=) GRCh37: Chr11:118959362 GRCh38: Chr11:119088652	HMBS		Acute intermittent porphyria	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30272475.	NM_000190.4(HMBS):c.-28A>C GRCh37: Chr11:118955716 GRCh38: Chr11:119085006	HMBS		not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 30272376.	NM_000190.4(HMBS):c.-65C>T GRCh37: Chr11:118955679 GRCh38: Chr11:119084969	HMBS		Acute intermittent porphyria	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 25548777.	NM_000190.4(HMBS):c.88-14G>A GRCh37: Chr11:118959331 GRCh38: Chr11:119088621	HMBS		not specified, not provided, Acute intermittent porphyria	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25548678.	NM_000190.4(HMBS):c.613-19C>A GRCh37: Chr11:118962816 GRCh38: Chr11:119092106	HMBS		not specified, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25548579.	NM_000190.4(HMBS):c.606G>T (p.Val202=) GRCh37: Chr11:118962230 GRCh38: Chr11:119091520	DPAGT1, HMBS		not specified, Acute intermittent porphyria, not provided, Congenital disorder of glycosylation	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23529180.	NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) GRCh37: Chr2:220081416 GRCh38: Chr2:219216694	ABCB6	R276W, R230W	not provided, Hereditary coproporphyria, Variegate porphyria, Acute intermittent porphyria, Protoporphyria, erythropoietic, 1	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21787281.	NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) GRCh37: Chr2:220082505 GRCh38: Chr2:219217783	ABCB6	R192W	Variegate porphyria, not provided, Hereditary coproporphyria, Protoporphyria, erythropoietic, 1, Acute intermittent porphyria	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16700782.	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) GRCh37: Chr11:118968185 GRCh38: Chr11:119097475	DPAGT1, HMBS	F332V	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, not provided, DPAGT1-congenital disorder of glycosylation, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Aug 8, 2023)	criteria provided, conflicting interpretations
Select item 16125383.	NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) GRCh37: Chr11:118963136 GRCh38: Chr11:119092426	HMBS	R208Q, R225Q	not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16125284.	NM_000190.4(HMBS):c.257A>T (p.Glu86Val) GRCh37: Chr11:118959973 GRCh38: Chr11:119089263	HMBS	E69V, E86V	not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 16125185.	NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) GRCh37: Chr11:118962207 GRCh38: Chr11:119091497	HMBS	R178C, R195C	not provided	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 16125086.	NM_000190.4(HMBS):c.962G>A (p.Arg321His) GRCh37: Chr11:118963869 GRCh38: Chr11:119093159	HMBS	R304H, R321H, R264H, R281H	not provided, Acute intermittent porphyria	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 16124987.	NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) GRCh37: Chr11:118963982 GRCh38: Chr11:119093272	HMBS	D342N, D359N, D302N, D319N	not provided, Acute intermittent porphyria	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9372888.	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) GRCh37: Chr11:118967758 GRCh38: Chr11:119097048	DPAGT1, HMBS	I393V	not specified, Congenital disorder of glycosylation, Congenital myasthenic syndrome 13, Acute intermittent porphyria, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6847389.	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) GRCh37: Chr2:220082504 GRCh38: Chr2:219217782	ABCB6	R192Q	not provided, Variegate porphyria, Acute intermittent porphyria, Protoporphyria, erythropoietic, 1	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148690.	NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) GRCh37: Chr11:118960922 GRCh38: Chr11:119090212	HMBS	R149, R132	not provided, Acute intermittent porphyria	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148591.	NM_000190.4(HMBS):c.242T>C (p.Leu81Pro) GRCh37: Chr11:118959958 GRCh38: Chr11:119089248	HMBS	L81P, L64P	Acute intermittent porphyria	Pathogenic (Jan 1, 2004)	no assertion criteria provided
Select item 148392.	NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) GRCh37: Chr11:118963668 GRCh38: Chr11:119092958	HMBS	W283, W266, W226, W243	not provided	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148093.	HMBS, ALU INS	HMBS		Acute intermittent porphyria	Pathogenic (Jan 1, 1999)	no assertion criteria provided
Select item 147994.	NM_000190.4(HMBS):c.847_848del (p.Trp283fs) GRCh37: Chr11:118963666-118963667 GRCh38: Chr11:119092956-119092957	HMBS	W283fs, W226fs, W243fs, W266fs	Acute intermittent porphyria	Pathogenic (Jul 1, 1997)	no assertion criteria provided
Select item 147895.	NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) GRCh37: Chr11:118962869 GRCh38: Chr11:119092159	HMBS	G216D, G199D	not provided	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 147796.	NM_000190.4(HMBS):c.266+1G>C GRCh37: Chr11:118959983 GRCh38: Chr11:119089273	HMBS		Acute intermittent porphyria	Pathogenic (Jul 1, 1997)	no assertion criteria provided
Select item 147697.	NM_000190.4(HMBS):c.913-1G>A GRCh37: Chr11:118963819 GRCh38: Chr11:119093109	HMBS		not provided	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 147598.	NM_000190.4(HMBS):c.771+1G>C GRCh37: Chr11:118963234 GRCh38: Chr11:119092524	HMBS		Acute intermittent porphyria	Pathogenic (Dec 1, 1993)	no assertion criteria provided
Select item 147499.	NM_000190.4(HMBS):c.766C>A (p.His256Asn) GRCh37: Chr11:118963228 GRCh38: Chr11:119092518	HMBS	H256N, H239N	Acute intermittent porphyria	Pathogenic (Dec 1, 1993)	no assertion criteria provided
Select item 1473100.	NM_000190.4(HMBS):c.755C>T (p.Ala252Val) GRCh37: Chr11:118963217 GRCh38: Chr11:119092507	HMBS	A252V, A235V	Acute intermittent porphyria	Pathogenic (Dec 1, 1993)	no assertion criteria provided

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