"Genome-Nilou Lab"[submitter] AND "HFE"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216425	NM_000410.4(HFE):c.18G>C (p.Arg6Ser)	HFE-AS1, HFE (R6S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +7 more	GUncertain significance
Select item 907724	NM_000410.4(HFE):c.40C>G (p.Leu14Val)	HFE-AS1, HFE (L14V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +2 more	GUncertain significance
Select item 461193	NM_000410.4(HFE):c.50C>T (p.Thr17Ile)	HFE, HFE-AS1 (T17I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 219411	NM_000410.4(HFE):c.189T>C (p.His63=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1315973	NM_000410.4(HFE):c.196C>T (p.Arg66Cys)	HFE-AS1, HFE (R43C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1 +2 more	GUncertain significance
Select item 1073981	NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	HFE, HFE-AS1 (R48* +1 more)	Single nucleotide variant (nonsense +2 more)	Hemochromatosis type 1 +1 more	GPathogenic
Select item 129225	NM_000410.4(HFE):c.340+4T>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +3 more	GBenign/Likely benign
Select item 1193507	NM_000410.4(HFE):c.496A>G (p.Lys166Glu)	HFE (K143E +2 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +2 more	GUncertain significance
Select item 222651	NM_000410.4(HFE):c.502G>C (p.Glu168Gln)	HFE (E168Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis +7 more	GUncertain significance
Select item 407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE (L183fs +2 more)	Deletion (frameshift variant +1 more)	Variegate porphyria +6 more	GPathogenic/Likely pathogenic
Select item 907725	NM_000410.4(HFE):c.670C>T (p.Arg224Trp)	HFE (R122W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis +2 more	GUncertain significance
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 1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Single nucleotide variant (splice donor variant)	Alzheimer disease type 1 +7 more	GPathogenic/Likely pathogenic
Select item 1164200	NM_000410.4(HFE):c.1007-47G>A	HFE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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