"GeneDx"[submitter] AND "HFE"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152408	GRCh38/hg38 6p22.2(chr6:25991391-26116829)x3	H1-1, H1-2 +30 more	Copy number gain	See cases	GLikely benign
Select item 1168055	NC_000006.12:g.26086974G>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	Hereditary hemochromatosis +1 more	GBenign
Select item 1204708	NC_000006.12:g.26087031A>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1320501	NC_000006.12:g.26087421G>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1710897	NM_000410.4(HFE):c.-4G>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1317189	NM_000410.4(HFE):c.20C>G (p.Pro7Arg)	HFE, HFE-AS1 (P7R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 414267	NM_000410.4(HFE):c.21G>A (p.Pro7=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +2 more	GConflicting classifications of pathogenicity
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 3253220	NM_000410.4(HFE):c.68G>T (p.Arg23Leu)	HFE, HFE-AS1 (R23L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 356194	NM_000410.4(HFE):c.68G>A (p.Arg23His)	HFE, HFE-AS1 (R23H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1265351	NM_000410.4(HFE):c.76+112T>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1712606	NM_000410.4(HFE):c.105G>C (p.Met35Ile)	HFE-AS1, HFE (M35I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1196256	NM_000410.4(HFE):c.171G>C (p.Leu57=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis +1 more	GLikely benign
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)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
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)	not provided +9 more	GConflicting classifications of pathogenicity
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 1316157	NM_000410.4(HFE):c.200G>A (p.Arg67His)	HFE, HFE-AS1 (R44H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 452680	NM_000410.4(HFE):c.212G>A (p.Arg71Gln)	HFE-AS1, HFE (R71Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
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 1316044	NM_000410.4(HFE):c.401G>C (p.Gly134Ala)	HFE (G111A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1409845	NM_000410.4(HFE):c.498G>C (p.Lys166Asn)	HFE (K143N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis +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 1316363	NM_000410.4(HFE):c.616+4T>C	HFE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287224	NM_000410.4(HFE):c.617-296A>C	HFE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292203	NM_000410.4(HFE):c.617-48C>G	HFE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1712700	NM_000410.4(HFE):c.755A>G (p.Glu252Gly)	HFE (E146G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 356196	NM_000410.4(HFE):c.829G>A (p.Glu277Lys)	HFE (E277K +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	HFE-related disorder +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 461195	NM_000410.4(HFE):c.884T>C (p.Val295Ala)	HFE (V295A +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 1260209	NM_000410.4(HFE):c.892+16G>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GBenign
Select item 14	NM_000410.4(HFE):c.892+48G>A	HFE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190983	NM_000410.4(HFE):c.893-50G>A	HFE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236293	NM_000410.4(HFE):c.893-44T>C	HFE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3358755	NM_000410.4(HFE):c.896C>T (p.Pro299Leu)	HFE (P119L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321072	NM_000410.4(HFE):c.944T>G (p.Val315Gly)	HFE (V135G +9 more)	Single nucleotide variant (missense variant)	not provided	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 1178780	NM_000410.4(HFE):c.1007-284T>C	HFE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215277	NM_000410.4(HFE):c.1007-205del	HFE	Deletion (intron variant)	not provided	GLikely benign
Select item 1164200	NM_000410.4(HFE):c.1007-47G>A	HFE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 237780	NM_000410.4(HFE):c.1026C>T (p.Tyr342=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 3369706	NM_000410.4(HFE):c.1031T>C (p.Leu344Ser)	HFE (L164S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372714	NM_000410.4(HFE):c.1045T>A (p.Ter349Arg)	HFE	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance

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Items: 45