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Links from MedGen

Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMP1
(D111G +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(H497L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
(I485T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
(R173W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
(P403S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(N332K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DMP1
(R302I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(S226P +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GLikely benign
DMP1
Single nucleotide variant
(synonymous variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GBenign/Likely benign
DMP1
(G181D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(Y513C +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(G512S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
(D105N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(synonymous variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GConflicting classifications of pathogenicity
DMP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DMP1
(D478A +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
Single nucleotide variant
(3 prime UTR variant)
Hypophosphatemic rickets, autosomal recessive, 1
GBenign
DMP1
(I486V +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(N483T +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GBenign
DMP1
(E470K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
(K463R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DMP1
(E445K +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
(G315R +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DMP1
(L282I +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GBenign/Likely benign
DMP1
(R272H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
(M237V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DMP1
(S225N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMP1
(P220T +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(Q159K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DMP1
(T143I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DMP1
(K124Q +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(K97E +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
GUncertain significance
DMP1
(S69C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DMP1
(E31K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
DMP1
(S4T)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GUncertain significance
DMP1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DMP1
(Y480fs +1 more)
Deletion
(frameshift variant)
Hypophosphatemic rickets, autosomal recessive, 1
GPathogenic
DMP1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DMP1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DMP1
(P105fs +1 more)
Deletion
(frameshift variant)
Hypophosphatemic rickets, autosomal recessive, 1
GPathogenic
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