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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP2R1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
CYP2R1, LOC130005371
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CYP2R1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CYP2R1
(R145* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP2R1
(R340Q +2 more)
Single nucleotide variant
(missense variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GUncertain significance
CYP2R1
(R145* +2 more)
Single nucleotide variant
(nonsense)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GPathogenic/Likely pathogenic
CYP2R1
Single nucleotide variant
(synonymous variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GBenign/Likely benign
CYP2R1
(G335R +2 more)
Single nucleotide variant
(missense variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GUncertain significance
CYP2R1
(V274E +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CYP2R1
(M118V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP2R1
Indel
(inframe_indel)
Vitamin D hydroxylation-deficient rickets, type 1B
GPathogenic
CYP2R1
(L142fs +2 more)
Duplication
(frameshift variant)
CYP2R1-related disorder
+2 more
GConflicting classifications of pathogenicity
CYP2R1
Single nucleotide variant
(splice donor variant)
Vitamin D hydroxylation-deficient rickets, type 1B
GPathogenic
CYP2R1
(V87I +2 more)
Single nucleotide variant
(missense variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GUncertain significance
CYP2R1
(N263S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP2R1
(S102C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CYP2R1
(I340T +2 more)
Single nucleotide variant
(missense variant)
Vitamin D hydroxylation-deficient rickets, type 1B
GUncertain significance
CYP2R1
Single nucleotide variant
(intron variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GLikely benign
CYP2R1
Single nucleotide variant
(synonymous variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GBenign/Likely benign
CYP2R1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
CYP2R1
Single nucleotide variant
(synonymous variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GLikely benign
CYP2R1
Single nucleotide variant
(synonymous variant)
Vitamin D hydroxylation-deficient rickets, type 1B
+1 more
GBenign/Likely benign
CYP2R1
(I332T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP2R1
(M284T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP2R1
(M284I +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CYP2R1
(L99P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Vitamin D-dependent rickets, type 1
+2 more
GPathogenic/Likely pathogenic
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