"SLC40A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061254	NM_014585.6(SLC40A1):c.1647_1655del (p.Lys549_Ala552delinsAsn)	SLC40A1	Deletion (inframe_indel)	SLC40A1-related disorder	GUncertain significance
Select item 333162	NM_014585.6(SLC40A1):c.1570G>A (p.Val524Ile)	SLC40A1 (V524I)	Single nucleotide variant (missense variant)	SLC40A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 406376	NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp)	SLC40A1 (G490D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GPathogenic
Select item 698027	NM_014585.6(SLC40A1):c.1328C>T (p.Pro443Leu)	SLC40A1 (P443L)	Single nucleotide variant (missense variant)	SLC40A1-related disorder +1 more	GBenign
Select item 695283	NM_014585.6(SLC40A1):c.1294A>G (p.Met432Val)	SLC40A1 (M432V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GBenign
Select item 534237	NM_014585.6(SLC40A1):c.1203C>T (p.Ser401=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4 +1 more	GBenign/Likely benign
Select item 3030688	NM_014585.6(SLC40A1):c.1035G>T (p.Leu345Phe)	SLC40A1 (L345F)	Single nucleotide variant (missense variant)	SLC40A1-related disorder	GUncertain significance
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 2630546	NM_014585.6(SLC40A1):c.589A>T (p.Thr197Ser)	SLC40A1 (T197S)	Single nucleotide variant (missense variant)	SLC40A1-related disorder	GUncertain significance
Select item 5414	NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del)	SLC40A1 (V162del)	Microsatellite (inframe_deletion)	SLC40A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 986316	NM_014585.6(SLC40A1):c.306A>G (p.Ser102=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4 +1 more	GLikely benign
Select item 1711522	NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys)	SLC40A1 (G80C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity