ClinVar for MedGen (Select 1814970) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801219	NM_001718.6(BMP6):c.770G>A (p.Arg257His)	BMP6 (R257H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801218	NM_001718.6(BMP6):c.472C>T (p.Gln158Ter)	BMP6	Single nucleotide variant (nonsense)	Iron overload, susceptibility to	Grisk factor
Select item 1801217	NM_001718.6(BMP6):c.334G>C (p.Glu112Gln)	BMP6 (E112Q)	Single nucleotide variant (missense variant)	Iron overload, susceptibility to	Grisk factor
Select item 1801216	NM_001718.6(BMP6):c.337C>G (p.Gln113Glu)	BMP6	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1801215	NM_001718.6(BMP6):c.287T>C (p.Leu96Pro)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801214	NM_001718.6(BMP6):c.283C>T (p.Pro95Ser)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar