ClinVar for MedGen (Select 75669) - ClinVar

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Items: 51

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25750491.	NM_000374.5(UROD):c.101G>A (p.Trp34Ter) GRCh37: Chr1:45478659 GRCh38: Chr1:45012987	UROD	W34*	Familial porphyria cutanea tarda	Likely pathogenic	no assertion criteria provided
Select item 16835052.	NM_000374.5(UROD):c.70T>G (p.Trp24Gly) GRCh37: Chr1:45478628 GRCh38: Chr1:45012956	UROD	W24G	Familial porphyria cutanea tarda	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 14573363.	NM_000374.5(UROD):c.616C>T (p.Gln206Ter) GRCh37: Chr1:45479722 GRCh38: Chr1:45014050	UROD	Q206*	Familial porphyria cutanea tarda, not provided	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13253374.	NM_000374.5(UROD):c.138T>A (p.Phe46Leu) GRCh37: Chr1:45478812 GRCh38: Chr1:45013140	UROD	F46L	Familial porphyria cutanea tarda	Likely pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 12983415.	NM_000374.5(UROD):c.583_611del (p.Leu195fs) GRCh37: Chr1:45479689-45479717 GRCh38: Chr1:45014017-45014045	UROD	L195fs	Familial porphyria cutanea tarda	Likely pathogenic (Apr 30, 2021)	criteria provided, single submitter
Select item 10656376.	NM_000410.4(HFE):c.1006+1G>A GRCh37: Chr6:26093461 GRCh38: Chr6:26093233	HFE		Hemochromatosis type 1, not provided, Familial porphyria cutanea tarda, Hemochromatosis type 1, Microvascular complications of diabetes, susceptibility to, 7, Transferrin serum level quantitative trait locus 2, Variegate porphyria, Alzheimer disease type 1, Hereditary hemochromatosis	Pathogenic/Likely pathogenic (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9153197.	NM_000374.5(UROD):c.21-1G>C GRCh37: Chr1:45478578 GRCh38: Chr1:45012906	UROD		Familial porphyria cutanea tarda	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 9067918.	NM_000410.4(HFE):c.*603C>T GRCh37: Chr6:26095057 GRCh38: Chr6:26094829	HFE		Hemochromatosis type 1, Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Variegate porphyria	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9043989.	NM_000410.4(HFE):c.*198C>T GRCh37: Chr6:26094652 GRCh38: Chr6:26094424	HFE		Hemochromatosis type 1, Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Variegate porphyria	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87631510.	NM_000374.5(UROD):c.21-12C>T GRCh37: Chr1:45478567 GRCh38: Chr1:45012895	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87622611.	NM_000374.5(UROD):c.*70G>A GRCh37: Chr1:45481240 GRCh38: Chr1:45015568	UROD		Familial porphyria cutanea tarda	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87622512.	NM_000374.5(UROD):c.952G>A (p.Gly318Arg) GRCh37: Chr1:45481018 GRCh38: Chr1:45015346	UROD	G318R	not specified, not provided, Familial porphyria cutanea tarda	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 87622413.	NM_000374.5(UROD):c.774+12G>A GRCh37: Chr1:45480260 GRCh38: Chr1:45014588	UROD		not provided, Familial porphyria cutanea tarda	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 87526714.	NM_000374.5(UROD):c.745C>T (p.Arg249Trp) GRCh37: Chr1:45480219 GRCh38: Chr1:45014547	UROD	R249W	Familial porphyria cutanea tarda, not provided	Uncertain significance (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87526615.	NM_000374.5(UROD):c.679C>G (p.Gln227Glu) GRCh37: Chr1:45480153 GRCh38: Chr1:45014481	UROD	Q227E	Familial porphyria cutanea tarda	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87526516.	NM_000374.5(UROD):c.578G>A (p.Arg193His) GRCh37: Chr1:45479684 GRCh38: Chr1:45014012	UROD	R193H	Familial porphyria cutanea tarda	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87526417.	NM_000374.5(UROD):c.561T>C (p.Ala187=) GRCh37: Chr1:45479667 GRCh38: Chr1:45013995	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87434218.	NM_000374.5(UROD):c.463G>A (p.Ala155Thr) GRCh37: Chr1:45479452 GRCh38: Chr1:45013780	UROD	A155T	Familial porphyria cutanea tarda	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87434119.	NM_000374.5(UROD):c.442C>T (p.Arg148Cys) GRCh37: Chr1:45479431 GRCh38: Chr1:45013759	UROD	R148C	not provided, Familial porphyria cutanea tarda	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87434020.	NM_000374.5(UROD):c.390G>T (p.Glu130Asp) GRCh37: Chr1:45479379 GRCh38: Chr1:45013707	UROD	E130D	not provided, Familial porphyria cutanea tarda	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87433921.	NM_000374.5(UROD):c.383C>A (p.Ala128Asp) GRCh37: Chr1:45479372 GRCh38: Chr1:45013700	UROD	A128D	not provided, Familial porphyria cutanea tarda	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87433822.	NM_000374.5(UROD):c.240T>G (p.Ala80=) GRCh37: Chr1:45478990 GRCh38: Chr1:45013318	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87433723.	NM_000374.5(UROD):c.27G>C (p.Gln9His) GRCh37: Chr1:45478585 GRCh38: Chr1:45012913	UROD	Q9H	Familial porphyria cutanea tarda	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 80147424.	NM_000374.5(UROD):c.904C>T (p.Gln302Ter) GRCh37: Chr1:45480640 GRCh38: Chr1:45014968	UROD	Q302*	Familial porphyria cutanea tarda	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 74147825.	NM_000374.5(UROD):c.158A>G (p.Gln53Arg) GRCh37: Chr1:45478832 GRCh38: Chr1:45013160	UROD	Q53R	Familial porphyria cutanea tarda, not provided	Conflicting interpretations of pathogenicity (Apr 17, 2018)	criteria provided, conflicting interpretations
Select item 63248126.	NM_000410.4(HFE):c.676C>T (p.Arg226Trp) GRCh37: Chr6:26092972 GRCh38: Chr6:26092744	HFE	R226W, R138W, R212W, R46W, R124W, R203W, R120W, R134W, R223W	Alzheimer disease type 1, Microvascular complications of diabetes, susceptibility to, 7, Variegate porphyria, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Hemochromatosis type 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 46119427.	NM_000410.4(HFE):c.766G>A (p.Val256Ile) GRCh37: Chr6:26093062 GRCh38: Chr6:26092834	HFE	V256I, V154I, V164I, V168I, V233I, V242I, V150I, V76I, V253I	Hemochromatosis type 1, Hereditary hemochromatosis, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Variegate porphyria, Alzheimer disease type 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40707928.	NM_000410.4(HFE):c.546_547del (p.Leu183fs) GRCh37: Chr6:26091747-26091748 GRCh38: Chr6:26091519-26091520	HFE	L183fs, L95fs, L160fs	Hemochromatosis type 1, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Familial porphyria cutanea tarda, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Alzheimer disease type 1, Hereditary hemochromatosis	Pathogenic/Likely pathogenic (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29746429.	NM_000374.5(UROD):c.*45C>T GRCh37: Chr1:45481215 GRCh38: Chr1:45015543	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29746330.	NM_000374.5(UROD):c.758T>A (p.Leu253Gln) GRCh37: Chr1:45480232 GRCh38: Chr1:45014560	UROD	L253Q	Familial porphyria cutanea tarda, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 29746231.	NM_000374.5(UROD):c.738C>T (p.Ala246=) GRCh37: Chr1:45480212 GRCh38: Chr1:45014540	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29746132.	NM_000374.5(UROD):c.693G>A (p.Lys231=) GRCh37: Chr1:45480167 GRCh38: Chr1:45014495	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29746033.	NM_000374.5(UROD):c.474+15G>C GRCh37: Chr1:45479478 GRCh38: Chr1:45013806	UROD		not provided, Familial porphyria cutanea tarda	Conflicting interpretations of pathogenicity (Apr 5, 2021)	criteria provided, conflicting interpretations
Select item 29745934.	NM_000374.5(UROD):c.450G>A (p.Pro150=) GRCh37: Chr1:45479439 GRCh38: Chr1:45013767	UROD		not provided, Familial porphyria cutanea tarda	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29745835.	NM_000374.5(UROD):c.-1C>T GRCh37: Chr1:45477937 GRCh38: Chr1:45012265	UROD		Familial porphyria cutanea tarda	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 25596136.	NM_000374.5(UROD):c.603A>G (p.Pro201=) GRCh37: Chr1:45479709 GRCh38: Chr1:45014037	UROD		Familial porphyria cutanea tarda, not provided, not specified	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25596037.	NM_000374.5(UROD):c.*3G>A GRCh37: Chr1:45481173 GRCh38: Chr1:45015501	UROD		Familial porphyria cutanea tarda, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 25417238.	NM_000374.5(UROD):c.578G>C (p.Arg193Pro) GRCh37: Chr1:45479684 GRCh38: Chr1:45014012	UROD	R193P	UROD-Related Disorders, not provided	Likely pathogenic (Dec 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22265139.	NM_000410.4(HFE):c.502G>C (p.Glu168Gln) GRCh37: Chr6:26091703 GRCh38: Chr6:26091475	HFE	E168Q, E80Q, E145Q	Hereditary hemochromatosis, Hemochromatosis type 1, not provided, Familial porphyria cutanea tarda, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1	Uncertain significance (Sep 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21642540.	NM_000410.4(HFE):c.18G>C (p.Arg6Ser) GRCh37: Chr6:26087686 GRCh38: Chr6:26087458	HFE-AS1, HFE	R6S	Hemochromatosis type 1, Hereditary hemochromatosis, not provided, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7641.	NM_000374.5(UROD):c.995G>A (p.Arg332His) GRCh37: Chr1:45481061 GRCh38: Chr1:45015389	UROD	R332H	Familial porphyria cutanea tarda	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 7542.	NM_000374.5(UROD):c.912C>A (p.Asn304Lys) GRCh37: Chr1:45480648 GRCh38: Chr1:45014976	UROD	N304K	not provided	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 7443.	NM_000374.5(UROD):c.583C>T (p.Leu195Phe) GRCh37: Chr1:45479689 GRCh38: Chr1:45014017	UROD	L195F	Familial porphyria cutanea tarda	Pathogenic (Nov 1, 1998)	no assertion criteria provided
Select item 7344.	NM_000374.5(UROD):c.494T>G (p.Met165Arg) GRCh37: Chr1:45479600 GRCh38: Chr1:45013928	UROD	M165R	Familial porphyria cutanea tarda	Pathogenic (Nov 1, 1998)	no assertion criteria provided
Select item 7245.	NM_000374.5(UROD):c.942G>A (p.Glu314=) GRCh37: Chr1:45480678 GRCh38: Chr1:45015006	UROD		not provided	Likely pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 6746.	NM_000374.5(UROD):c.636+1G>C GRCh37: Chr1:45479743 GRCh38: Chr1:45014071	UROD		not provided	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 6647.	NM_000374.5(UROD):c.842G>A (p.Gly281Glu) GRCh37: Chr1:45480475 GRCh38: Chr1:45014803	UROD	G281E	Porphyria cutanea tarda, Hepatoerythropoietic porphyria	Pathogenic (Apr 1, 1996)	no assertion criteria provided
Select item 6548.	NM_000374.5(UROD):c.842G>T (p.Gly281Val) GRCh37: Chr1:45480475 GRCh38: Chr1:45014803	UROD	G281V	not provided	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 1149.	NM_000410.4(HFE):c.193A>T (p.Ser65Cys) GRCh37: Chr6:26091185 GRCh38: Chr6:26090957	HFE, HFE-AS1	S65C, S42C	Hemochromatosis type 1, Hereditary hemochromatosis, not provided, not specified, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Alzheimer disease type 1, Variegate porphyriaMicrovascular complications of diabetes, susceptibility to, 7, Alzheimer disease, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, ...see more	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 1050.	NM_000410.4(HFE):c.187C>G (p.His63Asp) GRCh37: Chr6:26091179 GRCh38: Chr6:26090951	HFE, HFE-AS1	H63D, H40D	not specified, Hemochromatosis type 1, Hereditary hemochromatosis, not provided, Cardiomyopathy, Variegate porphyria, Abnormality of iron homeostasis, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease, Hemochromatosis type 1Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, See cases, ...see more	Conflicting interpretations of pathogenicity; other (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 951.	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) GRCh37: Chr6:26093141 GRCh38: Chr6:26092913	HFE	C282Y, C176Y, C180Y, C190Y, C194Y, C259Y, C268Y, C102Y, C279Y	HFE-related disorder, Abnormal peripheral nervous system morphology, Abnormality of the male genitalia, Abdominal pain, Atypical behavior, Abnormality of the nervous system, Pain, Peripheral neuropathy, Inborn genetic diseases, Hemochromatosis type 1, Hemochromatosis type 2Hereditary hemochromatosis, Hereditary cancer-predisposing syndrome, not provided, Cardiomyopathy, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Alzheimer disease type 1, Cutaneous photosensitivity, Porphyrinuria, ...see more	Conflicting interpretations of pathogenicity; other; risk factor (Aug 15, 2023)	criteria provided, conflicting interpretations

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Items: 51