ClinVar for MedGen (Select 75669) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235017	NM_000374.5(UROD):c.968A>G (p.Gln323Arg)	UROD (Q323R)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 2690773	NM_000374.5(UROD):c.758dup (p.Ala254fs)	UROD (A254fs)	Duplication (frameshift variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 2664811	NM_000374.5(UROD):c.725del (p.Lys242fs)	UROD (K242fs)	Deletion (frameshift variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 2575049	NM_000374.5(UROD):c.101G>A (p.Trp34Ter)	UROD (W34*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 1683505	NM_000374.5(UROD):c.70T>G (p.Trp24Gly)	UROD (W24G)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GUncertain significance
Select item 1457336	NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	UROD (Q206*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda +1 more	GPathogenic/Likely pathogenic
Select item 1325337	NM_000374.5(UROD):c.138T>A (p.Phe46Leu)	UROD (F46L)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GLikely pathogenic
Select item 1298341	NM_000374.5(UROD):c.583_611del (p.Leu195fs)	UROD (L195fs)	Deletion (frameshift variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Single nucleotide variant (splice donor variant)	Variegate porphyria +7 more	GPathogenic/Likely pathogenic
Select item 915319	NM_000374.5(UROD):c.21-1G>C	UROD	Single nucleotide variant (non-coding transcript variant +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 906791	NM_000410.4(HFE):c.*603C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Microvascular complications of diabetes, susceptibility to, 7 +6 more	GUncertain significance
Select item 904398	NM_000410.4(HFE):c.*198C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Variegate porphyria +5 more	GUncertain significance
Select item 876315	NM_000374.5(UROD):c.21-12C>T	UROD	Single nucleotide variant (non-coding transcript variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 876226	NM_000374.5(UROD):c.*70G>A	UROD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial porphyria cutanea tarda +1 more	GConflicting classifications of pathogenicity
Select item 876225	NM_000374.5(UROD):c.952G>A (p.Gly318Arg)	UROD (G318R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 876224	NM_000374.5(UROD):c.774+12G>A	UROD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875267	NM_000374.5(UROD):c.745C>T (p.Arg249Trp)	UROD (R249W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 875266	NM_000374.5(UROD):c.679C>G (p.Gln227Glu)	UROD (Q227E)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 875265	NM_000374.5(UROD):c.578G>A (p.Arg193His)	UROD (R193H)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 875264	NM_000374.5(UROD):c.561T>C (p.Ala187=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874342	NM_000374.5(UROD):c.463G>A (p.Ala155Thr)	UROD (A155T)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 874341	NM_000374.5(UROD):c.442C>T (p.Arg148Cys)	UROD (R148C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 874340	NM_000374.5(UROD):c.390G>T (p.Glu130Asp)	UROD (E130D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 874339	NM_000374.5(UROD):c.383C>A (p.Ala128Asp)	UROD (A128D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 874338	NM_000374.5(UROD):c.240T>G (p.Ala80=)	UROD	Single nucleotide variant (synonymous variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 874337	NM_000374.5(UROD):c.27G>C (p.Gln9His)	UROD (Q9H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 801474	NM_000374.5(UROD):c.904C>T (p.Gln302Ter)	UROD (Q302*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 741478	NM_000374.5(UROD):c.158A>G (p.Gln53Arg)	UROD (Q53R)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GConflicting classifications of pathogenicity
Select item 632481	NM_000410.4(HFE):c.676C>T (p.Arg226Trp)	HFE (R226W +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +5 more	GUncertain significance
Select item 461194	NM_000410.4(HFE):c.766G>A (p.Val256Ile)	HFE (V256I +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis +6 more	GUncertain significance
Select item 407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE (L183fs +2 more)	Deletion (frameshift variant +1 more)	Microvascular complications of diabetes, susceptibility to, 7 +6 more	GPathogenic/Likely pathogenic
Select item 297464	NM_000374.5(UROD):c.*45C>T	UROD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 297463	NM_000374.5(UROD):c.758T>A (p.Leu253Gln)	UROD (L253Q)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GConflicting classifications of pathogenicity
Select item 297462	NM_000374.5(UROD):c.738C>T (p.Ala246=)	UROD	Single nucleotide variant (synonymous variant +1 more)	Familial porphyria cutanea tarda +1 more	GConflicting classifications of pathogenicity
Select item 297461	NM_000374.5(UROD):c.693G>A (p.Lys231=)	UROD	Single nucleotide variant (synonymous variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 297460	NM_000374.5(UROD):c.474+15G>C	UROD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297459	NM_000374.5(UROD):c.450G>A (p.Pro150=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 297458	NM_000374.5(UROD):c.-1C>T	LOC129930433, UROD	Single nucleotide variant (5 prime UTR variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 255961	NM_000374.5(UROD):c.603A>G (p.Pro201=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 255960	NM_000374.5(UROD):c.*3G>A	UROD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial porphyria cutanea tarda +2 more	GConflicting classifications of pathogenicity
Select item 254172	NM_000374.5(UROD):c.578G>C (p.Arg193Pro)	UROD (R193P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 222651	NM_000410.4(HFE):c.502G>C (p.Glu168Gln)	HFE (E168Q +2 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease type 1 +7 more	GUncertain significance
Select item 216425	NM_000410.4(HFE):c.18G>C (p.Arg6Ser)	HFE, HFE-AS1 (R6S)	Single nucleotide variant (non-coding transcript variant +1 more)	Variegate porphyria +7 more	GUncertain significance
Select item 76	NM_000374.5(UROD):c.995G>A (p.Arg332His)	UROD (R332H)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GConflicting classifications of pathogenicity
Select item 75	NM_000374.5(UROD):c.912C>A (p.Asn304Lys)	UROD (N304K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 74	NM_000374.5(UROD):c.583C>T (p.Leu195Phe)	UROD (L195F)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 73	NM_000374.5(UROD):c.494T>G (p.Met165Arg)	UROD (M165R)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 72	NM_000374.5(UROD):c.942G>A (p.Glu314=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 67	NM_000374.5(UROD):c.636+1G>C	UROD	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 66	NM_000374.5(UROD):c.842G>A (p.Gly281Glu)	UROD (G281E)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 65	NM_000374.5(UROD):c.842G>T (p.Gly281Val)	UROD (G281V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 11	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	HFE, HFE-AS1 (S65C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Alzheimer disease +10 more	GConflicting classifications of pathogenicity
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	See cases +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Juvenile hemochromatosis +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor

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Items: 54