ClinVar for MedGen (Select 82769) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3288351.	NM_021175.3(HAMP):c.-67G>C GRCh37: Chr19:35773414 GRCh38: Chr19:35282511	HAMP		Juvenile hemochromatosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2924192.	NM_213653.4(HJV):c.189AGG[5] (p.Gly69del) GRCh37: Chr1:145415369-145415371 GRCh38: Chr1:146019626-146019628	HJV	G69del	Juvenile hemochromatosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2924153.	NM_145277.4(HJV):c.-406delC GRCh37: Chr1:145413263 GRCh38: Chr1:146021745	HJV		Juvenile hemochromatosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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