ClinVar for MedGen (Select 854011) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233283	NM_000410.4(HFE):c.976T>A (p.Phe326Ile)	HFE (F146I +9 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 1	GUncertain significance
Select item 2575054	NM_000410.4(HFE):c.340+1G>A	HFE	Single nucleotide variant (splice donor variant +1 more)	Hemochromatosis type 1	GLikely pathogenic
Select item 2432449	NM_000410.4(HFE):c.202G>A (p.Val68Met)	HFE, HFE-AS1 (V45M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1	GUncertain significance
Select item 1315973	NM_000410.4(HFE):c.196C>T (p.Arg66Cys)	HFE, HFE-AS1 (R43C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1 +2 more	GUncertain significance
Select item 1217279	NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del)	HFE (Y125del +8 more)	Microsatellite (inframe_indel +2 more)	Hemochromatosis type 1	GLikely pathogenic
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 1185560	NM_000410.4(HFE):c.262A>T (p.Ser88Cys)	HFE, HFE-AS1 (S65C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1	GLikely pathogenic
Select item 1164200	NM_000410.4(HFE):c.1007-47G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +2 more	GBenign
Select item 1073981	NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	HFE, HFE-AS1 (R48* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis +1 more	GPathogenic
Select item 1071037	NM_000410.4(HFE):c.1022_1034del (p.His341fs)	HFE (H161fs +9 more)	Deletion (frameshift variant +1 more)	Hereditary hemochromatosis +1 more	GPathogenic
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 907776	NM_000410.4(HFE):c.*918A>G	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
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 907724	NM_000410.4(HFE):c.40C>G (p.Leu14Val)	HFE, HFE-AS1 (L14V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis +2 more	GUncertain significance
Select item 906793	NM_000410.4(HFE):c.*838T>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 906792	NM_000410.4(HFE):c.*744G>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 906791	NM_000410.4(HFE):c.*603C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Variegate porphyria +5 more	GUncertain significance
Select item 906712	NM_000410.4(HFE):c.-7T>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 906711	NM_000410.3(HFE):c.-48C>G	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	Hemochromatosis type 1	GBenign
Select item 906710	NM_000410.3(HFE):c.-96G>C	HFE-AS1, HFE	Single nucleotide variant (non-coding transcript variant)	Hemochromatosis type 1	GUncertain significance
Select item 905193	NM_000410.4(HFE):c.*459C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 905192	NM_000410.4(HFE):c.*426T>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 905191	NM_000410.4(HFE):c.*403T>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 905190	NM_000410.4(HFE):c.*281C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 904399	NM_000410.4(HFE):c.*199G>A	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	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 904397	NM_000410.4(HFE):c.*120C>T	HFE	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 1	GUncertain significance
Select item 904396	NM_000410.4(HFE):c.*61C>T	HFE	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 1	GUncertain significance
Select item 904395	NM_000410.4(HFE):c.1006+14A>G	HFE	Single nucleotide variant (intron variant)	Hemochromatosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 802342	NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)	LOC113687175, TFR2 (R530* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +2 more	GPathogenic/Likely pathogenic
Select item 801842	NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp)	SLC40A1 (A232D)	Single nucleotide variant (missense variant)	Hemochromatosis type 1 +1 more	GUncertain significance
Select item 633265	NM_000410.4(HFE):c.77-2_78delinsTGGAGTC	HFE, HFE-AS1	Indel (non-coding transcript variant +2 more)	Hemochromatosis type 1	GLikely pathogenic
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 576868	NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)	TFR2 (G373D +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +3 more	GUncertain significance
Select item 461195	NM_000410.4(HFE):c.884T>C (p.Val295Ala)	HFE (V295A +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +2 more	GConflicting classifications of pathogenicity
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 461193	NM_000410.4(HFE):c.50C>T (p.Thr17Ile)	HFE, HFE-AS1 (T17I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +1 more	GUncertain significance
Select item 414267	NM_000410.4(HFE):c.21G>A (p.Pro7=)	HFE-AS1, HFE	Single nucleotide variant (non-coding transcript variant +1 more)	Hemochromatosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE (L183fs +2 more)	Deletion (frameshift variant +1 more)	Hemochromatosis type 1 +6 more	GPathogenic/Likely pathogenic
Select item 407073	NM_000410.4(HFE):c.892G>T (p.Glu298Ter)	HFE (E298* +8 more)	Single nucleotide variant (nonsense +1 more)	Hemochromatosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 356209	NM_000410.4(HFE):c.*991C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 356208	NM_000410.4(HFE):c.*988G>A	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 356207	NM_000410.4(HFE):c.*957T>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356206	NM_000410.4(HFE):c.*871C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356205	NM_000410.4(HFE):c.*801T>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356204	NM_000410.4(HFE):c.*746G>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356203	NM_000410.4(HFE):c.*625C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356202	NM_000410.4(HFE):c.*578T>C	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356201	NM_000410.4(HFE):c.*517A>G	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356200	NM_000410.4(HFE):c.*417C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356199	NM_000410.4(HFE):c.*301C>A	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356198	NM_000410.4(HFE):c.*296A>T	HFE	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 1	GUncertain significance
Select item 356197	NM_000410.4(HFE):c.*155C>T	HFE	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 1	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)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 356195	NM_000410.4(HFE):c.707C>T (p.Thr236Ile)	HFE (T236I +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1	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 237780	NM_000410.4(HFE):c.1026C>T (p.Tyr342=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hemochromatosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 222651	NM_000410.4(HFE):c.502G>C (p.Glu168Gln)	HFE (E168Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +7 more	GUncertain significance
Select item 222650	NM_000410.4(HFE):c.200G>T (p.Arg67Leu)	HFE, HFE-AS1 (R67L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1	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)	Hemochromatosis type 1 +2 more	GBenign/Likely benign
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)	Alzheimer disease type 1 +7 more	GUncertain significance
Select item 208985	NM_000410.4(HFE):c.506G>A (p.Trp169Ter)	HFE (W169* +2 more)	Single nucleotide variant (nonsense +1 more)	Hemochromatosis type 1	Gnot provided
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 88946	NM_000410.4(HFE):c.502G>T (p.Glu168Ter)	HFE (E168* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 4286	NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	HAMP (G71D)	Single nucleotide variant (missense variant)	Hemochromatosis type 2B +4 more	GBenign/Likely benign
Select item 2371	NM_213653.4(HJV):c.963C>A (p.Cys321Ter)	HJV (C321* +2 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 2A +1 more	GPathogenic
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 19	NM_000410.4(HFE):c.848A>C (p.Gln283Pro)	HFE (Q283P +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 18	NM_000410.4(HFE):c.989G>T (p.Arg330Met)	HFE (R330M +9 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 1	GPathogenic
Select item 17	NM_000410.4(HFE):c.381A>C (p.Gln127His)	HFE (Q127H +2 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1	GPathogenic
Select item 16	NM_000410.4(HFE):c.175G>A (p.Val59Met)	HFE, HFE-AS1 (V59M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GUncertain significance
Select item 15	NM_000410.4(HFE):c.157G>A (p.Val53Met)	HFE, HFE-AS1 (V53M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1	GUncertain significance
Select item 13	NM_000410.4(HFE):c.277G>C (p.Gly93Arg)	HFE (G93R +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1	GPathogenic
Select item 12	NM_000410.4(HFE):c.314T>C (p.Ile105Thr)	HFE (I105T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
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)	Hemochromatosis type 1 +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)	Hemochromatosis type 1 +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)	not provided +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor

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Items: 77