ClinVar (all) for Orgtrack (Select 507787) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986335	NM_014585.6(SLC40A1):c.1502A>G (p.Tyr501Cys)	SLC40A1 (Y501C)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986334	NM_014585.6(SLC40A1):c.1468G>A (p.Gly490Ser)	SLC40A1 (G490S)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986333	NM_014585.6(SLC40A1):c.968G>A (p.Gly323Asp)	SLC40A1 (G323D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986332	NM_014585.6(SLC40A1):c.698T>C (p.Leu233Pro)	SLC40A1 (L233P)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986331	NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn)	SLC40A1 (T230N)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 986330	NM_014585.6(SLC40A1):c.679T>G (p.Tyr227Asp)	SLC40A1 (Y227D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986329	NM_014585.6(SLC40A1):c.616G>C (p.Gly206Arg)	SLC40A1 (G206R)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986328	NM_014585.6(SLC40A1):c.611G>T (p.Gly204Val)	SLC40A1 (G204V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986327	NM_014585.6(SLC40A1):c.554A>C (p.Asn185Thr)	SLC40A1 (N185T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986326	NM_014585.6(SLC40A1):c.536G>C (p.Arg179Thr)	SLC40A1 (R179T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986325	NM_014585.6(SLC40A1):c.442A>G (p.Thr148Ala)	SLC40A1 (T148A)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986324	NM_014585.6(SLC40A1):c.238G>A (p.Gly80Ser)	SLC40A1 (G80S)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic/Likely pathogenic
Select item 986323	NM_014585.6(SLC40A1):c.212C>T (p.Ser71Phe)	SLC40A1 (S71F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986322	NM_014585.6(SLC40A1):c.188T>C (p.Val63Ala)	SLC40A1 (V63A)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 986321	NM_014585.6(SLC40A1):c.1151T>G (p.Leu384Trp)	SLC40A1 (L384W)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986320	NM_014585.6(SLC40A1):c.1049C>T (p.Ala350Val)	SLC40A1 (A350V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986319	NM_014585.6(SLC40A1):c.1048G>A (p.Ala350Thr)	SLC40A1 (A350T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986318	NM_014585.6(SLC40A1):c.1035G>C (p.Leu345Phe)	SLC40A1 (L345F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986317	NM_014585.6(SLC40A1):c.517A>G (p.Met173Val)	SLC40A1 (M173V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986316	NM_014585.6(SLC40A1):c.306A>G (p.Ser102=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 986315	NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu)	SLC40A1 (A45E)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 986314	NM_014585.6(SLC40A1):c.140C>T (p.Ser47Phe)	SLC40A1 (S47F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 839124	NM_014585.6(SLC40A1):c.533G>A (p.Arg178Gln)	SLC40A1 (R178Q)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic/Likely pathogenic
Select item 809126	NM_014585.6(SLC40A1):c.1384G>A (p.Val462Ile)	SLC40A1 (V462I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 406376	NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp)	SLC40A1 (G490D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 333172	NM_014585.6(SLC40A1):c.289G>A (p.Val97Met)	SLC40A1 (V97M)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 216680	NM_014585.6(SLC40A1):c.1520A>G (p.His507Arg)	SLC40A1 (H507R)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 56158	NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)	SLC40A1 (G204S)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic/Likely pathogenic
Select item 56155	NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly)	SLC40A1 (R88G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 5418	NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp)	SLC40A1 (G267D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 5414	NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del)	SLC40A1 (V162del)	Microsatellite (inframe_deletion)	Hemochromatosis type 4 +1 more	GPathogenic/Likely pathogenic
Select item 5412	NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly)	SLC40A1 (D157G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic

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Items: 32