HFE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 1168055	NR_144383.1(HFE-AS1):n.1501C>G	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign
Select item 1204708	NR_144383.1(HFE-AS1):n.1444T>G	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 906710	NM_000410.3(HFE):c.-96G>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	Hemochromatosis type 1	GUncertain significance
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 1320501	NR_144383.1(HFE-AS1):n.1054C>T	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	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 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 1156873	NM_000410.4(HFE):c.6C>T (p.Gly2=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 3061479	NM_000410.4(HFE):c.17G>C (p.Arg6Thr)	HFE, HFE-AS1 (R6T)	Single nucleotide variant (non-coding transcript variant +1 more)	HFE-related disorder	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)	Alzheimer disease 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2070671	NM_000410.4(HFE):c.23C>T (p.Ala8Val)	HFE, HFE-AS1 (A8V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2168637	NM_000410.4(HFE):c.24G>C (p.Ala8=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2013750	NM_000410.4(HFE):c.36G>C (p.Leu12=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
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 1935737	NM_000410.4(HFE):c.43T>C (p.Leu15=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
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 696716	NM_000410.4(HFE):c.51C>T (p.Thr17=)	HFE-AS1, HFE	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2975965	NM_000410.4(HFE):c.54G>C (p.Ala18=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 1950367	NM_000410.4(HFE):c.54G>A (p.Ala18=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 1136786	NM_000410.4(HFE):c.57C>T (p.Val19=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
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 1685344	NM_000410.4(HFE):c.76+2T>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis +1 more	GLikely pathogenic
Select item 2004587	NM_000410.4(HFE):c.76+8C>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 1149012	NM_000410.4(HFE):c.76+8C>T	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 1564758	NM_000410.4(HFE):c.76+9G>T	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 1564136	NM_000410.4(HFE):c.76+11G>A	HFE, HFE-AS1	Single nucleotide variant (intron variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2696029	NM_000410.4(HFE):c.76+12G>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2731394	NM_000410.4(HFE):c.76+13G>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2083206	NM_000410.4(HFE):c.76+15T>G	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2920129	NM_000410.4(HFE):c.76+17C>T	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 3010157	NM_000410.4(HFE):c.76+20G>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2816744	NM_000410.4(HFE):c.76+20G>A	HFE, HFE-AS1	Single nucleotide variant (intron variant +1 more)	Hereditary hemochromatosis	GLikely benign
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 2906418	NM_000410.4(HFE):c.77-5T>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
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 1107298	NM_000410.4(HFE):c.84C>T (p.His28=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 1153927	NM_000410.4(HFE):c.87T>C (p.Ser29=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 1174749	NM_000410.4(HFE):c.88C>A (p.Leu30Met)	HFE, HFE-AS1 (L30M)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 698047	NM_000410.4(HFE):c.88C>T (p.Leu30=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 2920024	NM_000410.4(HFE):c.99C>T (p.Leu33=)	HFE-AS1, HFE	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
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 970730	NM_000410.4(HFE):c.107G>A (p.Gly36Asp)	HFE, HFE-AS1 (G36D)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2490949	NM_000410.4(HFE):c.110C>T (p.Ala37Val)	HFE, HFE-AS1 (A37V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2822995	NM_000410.4(HFE):c.123C>T (p.Asp41=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 3006063	NM_000410.4(HFE):c.129T>G (p.Gly43=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 1559454	NM_000410.4(HFE):c.136T>C (p.Leu46=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 1136711	NM_000410.4(HFE):c.141T>C (p.Phe47=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 2429149	NM_000410.4(HFE):c.145G>T (p.Ala49Ser)	HFE, HFE-AS1 (A49S)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 1630032	NM_000410.4(HFE):c.156C>T (p.Tyr52=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
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 1568854	NM_000410.4(HFE):c.165C>T (p.Asp55=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 1196256	NM_000410.4(HFE):c.171G>C (p.Leu57=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1141885	NM_000410.4(HFE):c.174C>T (p.Phe58=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
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 1499738	NM_000410.4(HFE):c.182A>G (p.Tyr61Cys)	HFE, HFE-AS1 (Y38C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GUncertain significance
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)	Familial porphyria cutanea tarda +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
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 1661989	NM_000410.4(HFE):c.192G>A (p.Glu64=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary hemochromatosis	GLikely benign
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)	Familial porphyria cutanea tarda +10 more	GConflicting classifications of pathogenicity
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 2961876	NM_000410.4(HFE):c.199C>T (p.Arg67Cys)	HFE, HFE-AS1 (R67C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely pathogenic
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 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 2105122	NM_000410.4(HFE):c.201T>C (p.Arg67=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary hemochromatosis	GLikely benign
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 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 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 2486980	NM_000410.4(HFE):c.217C>G (p.Pro73Ala)	HFE, HFE-AS1 (P73A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1530021	NM_000410.4(HFE):c.228C>T (p.Ser76=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
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 1454985	NM_000410.4(HFE):c.279del (p.Trp94fs)	HFE (W71fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary hemochromatosis	GPathogenic
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 2138513	NM_000410.4(HFE):c.278G>T (p.Gly93Val)	HFE (G93V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2717889	NM_000410.4(HFE):c.279G>C (p.Gly93=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2445854	NM_000410.4(HFE):c.282_283delinsTC (p.Trp94_Asp95delinsCysHis)	HFE	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 2445853	NM_000410.4(HFE):c.282G>T (p.Trp94Cys)	HFE (W71C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1328992	NM_000410.4(HFE):c.283G>C (p.Asp95His)	HFE (D72H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1982247	NM_000410.4(HFE):c.313A>G (p.Ile105Val)	HFE (I105V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2819902	NM_000410.4(HFE):c.314T>G (p.Ile105Ser)	HFE (I82S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
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 2290097	NM_000410.4(HFE):c.320A>G (p.Glu107Gly)	HFE (E107G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1677541	NM_000410.4(HFE):c.340+1G>C	HFE	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
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 2161977	NM_000410.4(HFE):c.340+12G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2956279	NM_000410.4(HFE):c.340+19T>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2889068	NM_000410.4(HFE):c.341-17G>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2015257	NM_000410.4(HFE):c.341-12G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2730214	NM_000410.4(HFE):c.341-11G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2737856	NM_000410.4(HFE):c.341-4C>G	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 845767	NM_000410.4(HFE):c.341-1G>A	HFE	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary hemochromatosis	GLikely pathogenic
Select item 3105611	NM_000410.4(HFE):c.344C>G (p.Ser115Cys)	HFE (S27C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 797340	NM_000410.4(HFE):c.345C>A (p.Ser115=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 1636750	NM_000410.4(HFE):c.352C>T (p.Leu118=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign

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