ClinVar for MedGen (Select 356321) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068589	NM_213653.4(HJV):c.127_146del (p.Asn43fs)	HJV (N43fs)	Deletion (frameshift variant +3 more)	Hemochromatosis type 2A	GPathogenic
Select item 2733977	NM_213653.4(HJV):c.960dup (p.Cys321fs)	HJV (C208fs +2 more)	Duplication (frameshift variant)	Hemochromatosis type 2A +1 more	GPathogenic
Select item 2506134	NM_213653.4(HJV):c.3G>C (p.Met1Ile)	HJV (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Hemochromatosis type 2A	GLikely pathogenic
Select item 2084916	NM_213653.4(HJV):c.399del (p.Ala134fs)	HJV (A134fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1985059	NM_213653.4(HJV):c.862C>T (p.Arg288Trp)	HJV (R62W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806075	NM_213653.4(HJV):c.614G>C (p.Ser205Thr)	HJV (S205T +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 2A	GUncertain significance
Select item 1709058	NM_213653.4(HJV):c.293G>A (p.Arg98His)	HJV (R98H)	Single nucleotide variant (missense variant +2 more)	Hemochromatosis type 2A	GUncertain significance
Select item 1698681	NM_213653.4(HJV):c.657+2T>A	HJV	Single nucleotide variant (intron variant +1 more)	Hemochromatosis type 2A	GLikely pathogenic
Select item 1687064	NM_213653.4(HJV):c.572G>C (p.Trp191Ser)	HJV (W191S +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 2A	GLikely pathogenic
Select item 1327997	NM_213653.4(HJV):c.445del (p.Asp149fs)	HJV (D149fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1327996	NM_213653.4(HJV):c.187C>T (p.Arg63Ter)	HJV (R63*)	Single nucleotide variant (nonsense +2 more)	Hemochromatosis type 2A	GPathogenic/Likely pathogenic
Select item 1199284	NM_213653.4(HJV):c.1238C>T (p.Pro413Leu)	HJV (P187L +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 1169514	NM_213653.4(HJV):c.645C>G (p.Thr215=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1070644	NM_213653.4(HJV):c.59dup (p.Ser21fs)	HJV (S21fs)	Duplication (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 1053196	NM_213653.4(HJV):c.275G>C (p.Arg92Pro)	HJV (R92P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1018758	NM_213653.4(HJV):c.397_417del (p.Pro133_Gly139del)	HJV	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 965344	NM_213653.4(HJV):c.1097T>A (p.Leu366Ter)	HJV (L140* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 876889	NM_213653.4(HJV):c.885C>T (p.Ser295=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A +1 more	GConflicting classifications of pathogenicity
Select item 876888	NM_213653.4(HJV):c.841A>T (p.Ile281Phe)	HJV (I168F +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 876887	NM_213653.4(HJV):c.819T>C (p.His273=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A	GUncertain significance
Select item 876886	NM_213653.4(HJV):c.780A>G (p.Gly260=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A +1 more	GConflicting classifications of pathogenicity
Select item 875890	NM_213653.4(HJV):c.597C>T (p.Leu199=)	HJV	Single nucleotide variant (synonymous variant +1 more)	Hemochromatosis type 2A	GUncertain significance
Select item 875889	NM_213653.4(HJV):c.510C>T (p.Phe170=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875020	NM_213653.4(HJV):c.*574A>T	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875019	NM_213653.4(HJV):c.*372A>G	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875018	NM_213653.4(HJV):c.*198G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875017	NM_213653.4(HJV):c.*197G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875016	NM_213653.4(HJV):c.*190G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 874964	NM_213653.4(HJV):c.170G>A (p.Gly57Asp)	HJV (G57D)	Single nucleotide variant (missense variant +2 more)	Hemochromatosis type 2A	GUncertain significance
Select item 874086	NM_213653.4(HJV):c.1084G>A (p.Val362Ile)	HJV (V249I +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 874085	NM_213653.4(HJV):c.994C>T (p.Arg332Cys)	HJV (R106C +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 874084	NM_213653.4(HJV):c.977G>A (p.Arg326Gln)	HJV (R213Q +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 874031	NM_213653.4(HJV):c.-202G>A	HJV	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 2A	GBenign
Select item 874030	NM_213653.3(HJV):c.-243C>T	HJV	Single nucleotide variant	Hemochromatosis type 2A	GUncertain significance
Select item 874029	NM_213653.3(HJV):c.-281T>C	HJV	Single nucleotide variant	Hemochromatosis type 2A	GUncertain significance
Select item 874028	NM_213653.3(HJV):c.-322G>A	HJV	Single nucleotide variant	Hemochromatosis type 2A	GUncertain significance
Select item 699829	NM_213653.4(HJV):c.387G>A (p.Pro129=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 697003	NM_213653.4(HJV):c.1068T>C (p.Ala356=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694655	NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)	HJV (C204Y +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +2 more	GConflicting classifications of pathogenicity
Select item 664777	NM_213653.4(HJV):c.1004G>A (p.Arg335Gln)	HJV (R222Q +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 658524	NM_213653.4(HJV):c.904G>A (p.Glu302Lys)	HJV (E189K +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 646197	NM_213653.4(HJV):c.220del (p.Val74fs)	HJV (V74fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 590920	NM_213653.4(HJV):c.697del (p.Gln233fs)	HJV (Q120fs +2 more)	Deletion (frameshift variant)	Hemochromatosis type 2A	GPathogenic
Select item 583737	NC_000001.10:g.(?_145414782)_(145474819_?)dup	POLR3GL, TXNIP +2 more	Duplication	Hemochromatosis type 2A	GUncertain significance
Select item 583553	NC_000001.10:g.(?_145414782)_(145474819_?)del	ANKRD34A, HJV +2 more	Deletion	Hemochromatosis type 2A	GPathogenic
Select item 560162	NM_213653.4(HJV):c.1006G>T (p.Gly336Ter)	HJV (G336* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 545472	NM_213653.4(HJV):c.497A>G (p.His166Arg)	HJV (H166R +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 2A	GUncertain significance
Select item 536408	NC_000001.10:g.(?_145414776)_(145416941_?)dup	HJV	Duplication	Hemochromatosis type 2A	GUncertain significance
Select item 536407	NM_213653.4(HJV):c.792G>C (p.Ser264=)	HJV	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 536406	NM_213653.4(HJV):c.432C>G (p.Ala144=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 468532	NM_213653.4(HJV):c.305C>T (p.Ala102Val)	HJV (A102V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 417403	NC_000001.10:g.(?_145414693)_(145417545_?)del	HJV	Deletion	Hemochromatosis type 2A	GPathogenic
Select item 292435	NM_213653.4(HJV):c.*288A>C	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 292434	NM_213653.4(HJV):c.1257T>G (p.Phe419Leu)	HJV (F419L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292433	NM_213653.4(HJV):c.1254C>G (p.Leu418=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A	GUncertain significance
Select item 292432	NM_213653.4(HJV):c.1113C>T (p.Pro371=)	HJV	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292431	NM_213653.4(HJV):c.986G>C (p.Arg329Pro)	HJV (R329P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 292430	NM_213653.4(HJV):c.929C>G (p.Ala310Gly)	HJV (A310G +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GBenign/Likely benign
Select item 292429	NM_213653.4(HJV):c.828C>A (p.Ile276=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A +1 more	GBenign
Select item 292428	NM_213653.4(HJV):c.756C>T (p.Ile252=)	HJV	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292427	NM_213653.4(HJV):c.559G>T (p.Val187Phe)	HJV (V187F +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 2A	GUncertain significance
Select item 292426	NM_213653.4(HJV):c.522T>C (p.His174=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292425	NM_213653.4(HJV):c.435G>C (p.Pro145=)	HJV	Single nucleotide variant (synonymous variant +1 more)	Hemochromatosis type 2A +1 more	GConflicting classifications of pathogenicity
Select item 292424	NM_213653.4(HJV):c.409G>A (p.Gly137Ser)	HJV (G137S +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 2A	GUncertain significance
Select item 292423	NM_213653.4(HJV):c.345C>T (p.Ile115=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292422	NM_213653.4(HJV):c.286A>T (p.Thr96Ser)	HJV (T96S)	Single nucleotide variant (missense variant +2 more)	Hemochromatosis type 2A	GUncertain significance
Select item 292421	NM_213653.4(HJV):c.201A>C (p.Gly67=)	HJV	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292420	NM_213653.4(HJV):c.188G>A (p.Arg63Gln)	HJV (R63Q)	Single nucleotide variant (missense variant +2 more)	Hemochromatosis type 2A	GUncertain significance
Select item 292418	NM_213653.4(HJV):c.-135T>C	HJV	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 2A	GLikely benign
Select item 292417	NM_213653.4(HJV):c.-154C>T	HJV	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 292416	NM_213653.4(HJV):c.-203C>T	HJV	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 220478	NM_213653.4(HJV):c.9G>C (p.Glu3Asp)	HJV (E3D)	Single nucleotide variant (missense variant +2 more)	Hemochromatosis type 2A +1 more	GBenign
Select item 220423	NM_213653.4(HJV):c.98-6C>G	HJV	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 219585	NM_213653.4(HJV):c.189AGG[7] (p.Gly69dup)	HJV	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GLikely benign
Select item 2373	NM_213653.4(HJV):c.160A>T (p.Arg54Ter)	HJV (R54*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2372	NM_213653.4(HJV):c.982_985del (p.Ser328fs)	HJV (S328fs +2 more)	Microsatellite (frameshift variant)	Hemochromatosis type 2A	GPathogenic
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 2370	NM_213653.4(HJV):c.302T>C (p.Leu101Pro)	HJV (L101P)	Single nucleotide variant (intron variant +2 more)	HJV-related condition +1 more	GPathogenic
Select item 2369	NM_213653.4(HJV):c.238T>C (p.Cys80Arg)	HJV (C80R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2368	NM_213653.4(HJV):c.842T>C (p.Ile281Thr)	HJV (I281T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2367	NM_213653.4(HJV):c.665T>A (p.Ile222Asn)	HJV (I222N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2366	NM_213653.4(HJV):c.976C>T (p.Arg326Ter)	HJV (R326* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	Juvenile hemochromatosis +2 more	GPathogenic

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Items: 83