Related gene-specific medical variations for Gene (Select 7421) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244360	NC_000012.11:g.(?_48249393)_(48251491_?)del	VDR	Deletion	not provided	GPathogenic
Select item 3064877	NM_000376.3(VDR):c.670C>T (p.Leu224Phe)	VDR (L224F +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2690923	NM_000376.3(VDR):c.702C>A (p.Val234=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2438524	NM_000376.3(VDR):c.967C>G (p.Leu323Val)	VDR (L323V +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2438523	NM_000376.3(VDR):c.446A>G (p.Asp149Gly)	VDR (D149G +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2434513	NM_000376.3(VDR):c.146+1G>T	VDR	Single nucleotide variant (splice donor variant)	Vitamin D-dependent rickets type II with alopecia	GLikely pathogenic

ClinVar