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Links from MedGen

Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNT3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALNT3
(Q566*)
Single nucleotide variant
(nonsense)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GPathogenic/Likely pathogenic
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GALNT3
(R418H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNT3
(M56L)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GUncertain significance
GALNT3
(G329R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNT3
(R438C)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GPathogenic/Likely pathogenic
GALNT3
(R6*)
Single nucleotide variant
(nonsense)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+2 more
GConflicting classifications of pathogenicity
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GALNT3
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+2 more
GLikely benign
GALNT3
(V512I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GALNT3
(E49D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNT3
(R261Q)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
(L98W)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GUncertain significance
GALNT3
(R113C)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
(E136G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNT3
(V267F)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GBenign
GALNT3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNT3
Single nucleotide variant
(genic upstream transcript variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GConflicting classifications of pathogenicity
GALNT3
(D457N)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
(E522G)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(intron variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GUncertain significance
GALNT3
(A564V)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
(T575I)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
KL
Duplication
(intron variant)
not provided
+1 more
GBenign
GALNT3
(V301I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GALNT3
(V569I)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GBenign
GALNT3
Single nucleotide variant
(synonymous variant)
GALNT3-related disorder
+2 more
GBenign/Likely benign
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
GALNT3
(I450V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNT3
(R169*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
GALNT3
(Y298fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FGF23
(G123W)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
FGF23
(S129P)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 2
+1 more
GPathogenic/Likely pathogenic
GALNT3
Single nucleotide variant
(genic upstream transcript variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GBenign
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(5 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
(G165R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNT3
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GBenign/Likely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNT3
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GConflicting classifications of pathogenicity
GALNT3
Single nucleotide variant
(synonymous variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GBenign
GALNT3
(V240L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GALNT3
(Y284C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GALNT3
(N484T)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GBenign
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GBenign
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(3 prime UTR variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GUncertain significance
GALNT3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GALNT3
(C574G)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
(A226fs)
Deletion
(frameshift variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
GALNT3
(T269fs)
Duplication
(frameshift variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GPathogenic
GALNT3
(T272K)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
(Q481*)
Single nucleotide variant
(nonsense)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
(Y322*)
Single nucleotide variant
(nonsense)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
(T359K)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
(Q592*)
Single nucleotide variant
(nonsense)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
GALNT3
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALNT3
(R162*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
GALNT3
Single nucleotide variant
(splice donor variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
KL
(H193R)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 3
+1 more
GConflicting classifications of pathogenicity
FGF23
(S71G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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