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Links from MedGen

Items: 1 to 100 of 180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VDR
(M1R +1 more)
Single nucleotide variant
(missense variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(R124S +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(R274C +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(L224F +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(splice acceptor variant)
Vitamin D-dependent rickets type II with alopecia
GLikely pathogenic
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(E379Q +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(W286R +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GPathogenic
VDR
(R402C +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(L323V +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(D149G +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(splice donor variant)
Vitamin D-dependent rickets type II with alopecia
GLikely pathogenic
VDR
(R123* +1 more)
Single nucleotide variant
(nonsense)
Vitamin D-dependent rickets type II with alopecia
+1 more
GPathogenic
VDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GLikely benign
VDR
(V311I +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+2 more
GUncertain significance
VDR
(R173S +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(R67C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VDR
(N37S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
VDR
(R36G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Vitamin D-dependent rickets type II with alopecia
GLikely pathogenic
VDR
(R100* +1 more)
Single nucleotide variant
(nonsense)
Vitamin D-dependent rickets type II with alopecia
+1 more
GPathogenic
VDR
(R368L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
VDR
(M102I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
VDR
(I268T +1 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 2
GUncertain significance
VDR
(H189N +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(A399T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
(C369G +1 more)
Inversion
(missense variant)
not provided
GUncertain significance
VDR
(C410F +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(R121W +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(D86G +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(D29G +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(R204W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
(R324H +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GLikely pathogenic
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
LOC130007784, VDR
Single nucleotide variant
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(5 prime UTR variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(5 prime UTR variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(5 prime UTR variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(intron variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
VDR
(P424R +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GLikely benign
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(A5V +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(R68W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GBenign
VDR
(R22W +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GConflicting classifications of pathogenicity
VDR
(E395Q +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(R452Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
VDR-related disorder
+1 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GLikely benign
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GLikely benign
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(R22Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
(R124H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
(E142K +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(R104Q +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GUncertain significance
VDR
(R171Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GBenign
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(3 prime UTR variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(V339A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
VDR
(R30Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GBenign/Likely benign
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GBenign/Likely benign
VDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
VDR
(T412I +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+2 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
VDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VDR
(R408H +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
+2 more
GConflicting classifications of pathogenicity
VDR
Single nucleotide variant
(synonymous variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GConflicting classifications of pathogenicity
VDR
(C76F +1 more)
Single nucleotide variant
(missense variant)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
LOC130007784, VDR
Single nucleotide variant
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(5 prime UTR variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
Single nucleotide variant
(5 prime UTR variant +1 more)
Vitamin D-dependent rickets type II with alopecia
GBenign
VDR
Single nucleotide variant
(intron variant)
Vitamin D-dependent rickets type II with alopecia
+1 more
GBenign
VDR
(A47P)
Single nucleotide variant
(5 prime UTR variant +2 more)
Vitamin D-dependent rickets type II with alopecia
GUncertain significance
VDR
(M1T +1 more)
Single nucleotide variant
(missense variant +1 more)
Vitamin D-dependent rickets type II with alopecia
+2 more
GBenign
VDR
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
VDR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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