ClinVar for MedGen (Select 82769) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075867	NM_000410.4(HFE):c.616+1G>A	HFE	Single nucleotide variant (splice donor variant +1 more)	Juvenile hemochromatosis	GLikely pathogenic
Select item 694655	NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)	HJV (C204Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328835	NM_021175.3(HAMP):c.-67G>C	HAMP	Single nucleotide variant	Juvenile hemochromatosis	GUncertain significance
Select item 292419	NM_213653.4(HJV):c.189AGG[5] (p.Gly69del)	HJV (G69del)	Microsatellite (inframe_deletion +2 more)	Juvenile hemochromatosis	GUncertain significance
Select item 292415	NM_145277.4(HJV):c.-406delC	HJV	Deletion	Juvenile hemochromatosis	GUncertain significance
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor

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