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Items: 1 to 100 of 328

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
CCDC12, LOC112935943
+13 more
Copy number loss
See cases
GPathogenic
MYL3, PTH1R
Single nucleotide variant
(5 prime UTR variant)
Chondrodysplasia Blomstrand type
+1 more
GUncertain significance
MYL3, PTH1R
Single nucleotide variant
(5 prime UTR variant)
Chondrodysplasia Blomstrand type
+1 more
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
Single nucleotide variant
(5 prime UTR variant)
Chondrodysplasia Blomstrand type
+1 more
GBenign/Likely benign
PTH1R
(R5G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(P8R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(G9S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PTH1R
(G9V)
Indel
(missense variant)
not provided
GUncertain significance
PTH1R
(L12F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTH1R
(P17L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PTH1R
Single nucleotide variant
(synonymous variant)
Chondrodysplasia Blomstrand type
+1 more
GUncertain significance
PTH1R
(A22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
Chondrodysplasia Blomstrand type
+3 more
GConflicting classifications of pathogenicity
PTH1R
Single nucleotide variant
(intron variant)
Chondrodysplasia Blomstrand type
+4 more
GBenign/Likely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
(E35K)
Single nucleotide variant
(missense variant)
Eiken syndrome
GUncertain significance
PTH1R
(Q37K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTH1R
(H42Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(R43H)
Single nucleotide variant
(missense variant)
Metaphyseal chondrodysplasia, Jansen type
+5 more
GBenign/Likely benign
PTH1R
(Q45R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(A46T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(A46D)
Single nucleotide variant
(missense variant)
Chondrodysplasia Blomstrand type
+1 more
GConflicting classifications of pathogenicity
PTH1R
Single nucleotide variant
(synonymous variant)
Chondrodysplasia Blomstrand type
+2 more
GConflicting classifications of pathogenicity
PTH1R
(R51L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(R51Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(L52F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(K53E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GBenign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GBenign
PTH1R
(S61P)
Indel
(missense variant)
not provided
GUncertain significance
PTH1R
(S61N)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PTH1R
(G68E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(A72V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
Primary failure of tooth eruption
+4 more
GBenign/Likely benign
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTH1R
(G76R)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
PTH1R
(P89R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTH1R
(K95E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(G100D)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
PTH1R
(R104*)
Single nucleotide variant
(nonsense)
Chondrodysplasia Blomstrand type
GPathogenic
PTH1R
(R104Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PTH1R
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
PTH1R
Microsatellite
(intron variant)
not provided
GBenign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GBenign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GBenign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
(R106C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
(P110L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129936652, PTH1R
(W118C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
LOC129936652, PTH1R
(A122T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
Single nucleotide variant
(synonymous variant)
Metaphyseal chondrodysplasia, Jansen type
+4 more
GBenign/Likely benign
LOC129936652, PTH1R
(V127M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
(V127E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
(P130L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
(P132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129936652, PTH1R
(P132L)
Single nucleotide variant
(missense variant)
Metaphyseal chondrodysplasia, Jansen type
+3 more
GPathogenic
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTH1R
(Y134S)
Single nucleotide variant
(missense variant)
Eiken syndrome
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
Chondrodysplasia Blomstrand type
+1 more
GUncertain significance
PTH1R
(N139S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTH1R
(G142D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(Y145N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTH1R
Single nucleotide variant
(synonymous variant)
Chondrodysplasia Blomstrand type
+2 more
GBenign/Likely benign
PTH1R
(R147C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(R147H)
Single nucleotide variant
(missense variant)
Primary failure of tooth eruption
+1 more
GUncertain significance
PTH1R
(R150C)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
PTH1R
(R150L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTH1R
(R150H)
Single nucleotide variant
(missense variant)
Metaphyseal chondrodysplasia, Jansen type
+1 more
GConflicting classifications of pathogenicity
PTH1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTH1R
(E155*)
Single nucleotide variant
(nonsense)
Primary failure of tooth eruption
GPathogenic
PTH1R
(P158R)
Single nucleotide variant
(missense variant)
Chondrodysplasia Blomstrand type
+1 more
GUncertain significance
PTH1R
(T163M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTH1R
(S168G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(T175S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(N176Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(N176S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(T178A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(R179L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(R181W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTH1R
(R181Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTH1R
Single nucleotide variant
(splice donor variant)
Primary failure of tooth eruption
GPathogenic
PTH1R
Single nucleotide variant
(intron variant)
Primary failure of tooth eruption
+4 more
GUncertain significance
PTH1R
Single nucleotide variant
(intron variant)
Metaphyseal chondrodysplasia, Jansen type
+2 more
GBenign
PTH1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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