U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTH1R
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
Eiken syndrome
+4 more
GBenign/Likely benign
PTH1R
Single nucleotide variant
(synonymous variant)
Metaphyseal chondrodysplasia, Jansen type
+4 more
GLikely benign
PTH1R
(L250P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(A210V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(R150L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(E579A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(R400W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(P581R)
Single nucleotide variant
(missense variant)
Primary failure of tooth eruption
+4 more
GUncertain significance
PTH1R
(R511G)
Single nucleotide variant
(missense variant)
Primary failure of tooth eruption
+4 more
GUncertain significance
PTH1R
(G566S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PTH1R
(E549K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
Primary failure of tooth eruption
+4 more
GUncertain significance
PTH1R
(P558S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(I371T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(R580W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(M231V)
Single nucleotide variant
(missense variant)
Chondrodysplasia Blomstrand type
+4 more
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
PTH1R
Single nucleotide variant
(synonymous variant)
Metaphyseal chondrodysplasia, Jansen type
+4 more
GBenign/Likely benign
PTH1R
(Y134S)
Single nucleotide variant
(missense variant)
Eiken syndrome
GUncertain significance
PTH1R
(E35K)
Single nucleotide variant
(missense variant)
Eiken syndrome
GUncertain significance
PTH1R
(N529S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
Metaphyseal chondrodysplasia, Jansen type
+4 more
GBenign/Likely benign
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
PTH1R
Single nucleotide variant
(synonymous variant)
Primary failure of tooth eruption
+5 more
GBenign/Likely benign
PTH1R
Duplication
(intron variant)
Metaphyseal chondrodysplasia
+7 more
GConflicting classifications of pathogenicity
LOC129936652, PTH1R
Single nucleotide variant
(synonymous variant)
Metaphyseal chondrodysplasia, Jansen type
+4 more
GBenign/Likely benign
PTH1R
Single nucleotide variant
(synonymous variant)
Metaphyseal chondrodysplasia, Jansen type
+4 more
GBenign/Likely benign
PTH1R
(R43H)
Single nucleotide variant
(missense variant)
Metaphyseal chondrodysplasia, Jansen type
+5 more
GBenign/Likely benign
PTH1R
Single nucleotide variant
(intron variant)
Chondrodysplasia Blomstrand type
+4 more
GBenign/Likely benign
PTH1R
(L585V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(P269S)
Single nucleotide variant
(missense variant)
Eiken syndrome
+3 more
GUncertain significance
PTH1R
(R485*)
Single nucleotide variant
(nonsense)
Eiken syndrome
GPathogenic
LOC129936652, PTH1R
(P132L)
Single nucleotide variant
(missense variant)
Metaphyseal chondrodysplasia, Jansen type
+3 more
GPathogenic
Format
Items per page
Sort by
Choose Destination