ClinVar for MedGen (Select 526251) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309991	NM_000785.4(CYP27B1):c.426_428dup	CYP27B1	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308890	NM_000376.3(VDR):c.-84+5056C>T	VDR	Single nucleotide variant (5 prime UTR variant +1 more)	Vitamin D-dependent rickets	GUncertain significance
Select item 308885	NM_000376.3(VDR):c.146+9dup	VDR	Duplication (intron variant)	Vitamin D-dependent rickets +1 more	GConflicting classifications of pathogenicity
Select item 308855	NM_000376.3(VDR):c.*948GAG[1]	VDR	Microsatellite (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308854	NM_000376.3(VDR):c.*1178A>C	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308853	NM_000376.3(VDR):c.*1179del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308850	NM_000376.3(VDR):c.*1235CCAGC[4]	VDR	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 308849	NM_000376.3(VDR):c.*1253T>A	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308834	NM_000376.3(VDR):c.*2102del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308833	NM_000376.3(VDR):c.2100_2105del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308832	NM_000376.3(VDR):c.2117_2122del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets	GBenign
Select item 308831	NM_000376.3(VDR):c.*2122dup	VDR	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308830	NM_000376.3(VDR):c.2118_2122del	VDR	Deletion (3 prime UTR variant)	Vitamin D-dependent rickets +1 more	GUncertain significance
Select item 308829	NM_000376.3(VDR):c.*2124dup	VDR	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308821	NM_000376.3(VDR):c.*2391C>G	VDR	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 308817	NM_000376.3(VDR):c.*2658dup	VDR	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance