C3469186[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801842	NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp)	SLC40A1 (A232D)	Single nucleotide variant (missense variant)	Hemochromatosis type 1 +1 more	GUncertain significance
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 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)	Hemochromatosis type 1 +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
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)	Alzheimer disease type 1 +10 more	GConflicting classifications of pathogenicity
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease type 1 +20 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 802342	NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)	LOC113687175, TFR2 (R530* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +2 more	GPathogenic/Likely pathogenic
Select item 576868	NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)	TFR2 (G373D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 4286	NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	HAMP (G71D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign