Related gene-specific medical variations for Gene (Select 30061) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690012	NM_014585.6(SLC40A1):c.373C>T (p.His125Tyr)	SLC40A1 (H125Y)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 333181	NM_014585.5(SLC40A1):c.-318_-310dupCGGCGGCGG	LOC129935241, SLC40A1	Microsatellite (genic upstream transcript variant)	Hereditary hemochromatosis	GUncertain significance
Select item 333180	NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG	LOC129935241, SLC40A1	Microsatellite (genic upstream transcript variant)	Hereditary hemochromatosis	GBenign
Select item 333179	NM_014585.5(SLC40A1):c.-312_-310dupCGG	LOC129935241, SLC40A1	Microsatellite (genic upstream transcript variant)	Hereditary hemochromatosis +1 more	GBenign
Select item 208986	NP_055400.1(SLC40A1):p.Gln248His	SLC40A1	Protein only	Hemochromatosis type 4	GPathogenic
Select item 56157	NM_014585.6(SLC40A1):c.553A>G (p.Asn185Asp)	SLC40A1 (N185D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 56156	NM_014585.6(SLC40A1):c.473G>T (p.Trp158Leu)	SLC40A1 (W158L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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