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Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC20A2
(Y430N)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(splice donor variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
PDGFB
(Q130P +1 more)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(A21fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(Y386*)
Single nucleotide variant
(nonsense)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(K426del)
Microsatellite
(inframe_deletion)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(L62P)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(M645V)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(A480fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(I285fs)
Deletion
(frameshift variant)
SLC20A2-related disorder
+2 more
GPathogenic/Likely pathogenic
SLC20A2
(T115K)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(T201A)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(T546fs)
Microsatellite
(frameshift variant)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
Deletion
(splice acceptor variant)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(N27fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(R382*)
Single nucleotide variant
(nonsense)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(D615E)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
Single nucleotide variant
(splice donor variant)
Idiopathic basal ganglia calcification 1
+2 more
GPathogenic/Likely pathogenic
SLC20A2
(G73V)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
DUOX2
(L1199P)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(A633S)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+1 more
GUncertain significance
SLC20A2
Single nucleotide variant
(splice acceptor variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(E55fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
PDGFRB
(T140M +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal ganglia calcification, idiopathic, 4
+7 more
GConflicting classifications of pathogenicity
SLC20A2
(R181Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC20A2
(P568L)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+1 more
GConflicting classifications of pathogenicity
SLC20A2
(T190A)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(F33fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GPathogenic
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
SMIM19, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(intron variant)
Idiopathic basal ganglia calcification 1
+1 more
GBenign/Likely benign
SLC20A2
(S324L)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+1 more
GUncertain significance
SLC20A2
Single nucleotide variant
(3 prime UTR variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(3 prime UTR variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(synonymous variant)
SLC20A2-related disorder
+2 more
GBenign/Likely benign
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(E446D)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+1 more
GConflicting classifications of pathogenicity
SLC20A2
Single nucleotide variant
(3 prime UTR variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(3 prime UTR variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(3 prime UTR variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(intron variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(5 prime UTR variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(G40D)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
(A480V)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+2 more
GUncertain significance
SLC20A2
(T527M)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+2 more
GConflicting classifications of pathogenicity
SLC20A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SLC20A2
(A227T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC20A2
(R617C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC20A2
Single nucleotide variant
(3 prime UTR variant)
Idiopathic basal ganglia calcification 1
GBenign
SLC20A2
(P286R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SLC20A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC20A2
Deletion
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC20A2
(L7fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
Single nucleotide variant
(splice acceptor variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(W101fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
Deletion
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(H399P)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(G63S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC20A2
(G63D)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(V507fs)
Deletion
(frameshift variant)
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
Deletion
Idiopathic basal ganglia calcification 1
GLikely pathogenic
SLC20A2
(E459*)
Single nucleotide variant
(nonsense)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(E575*)
Single nucleotide variant
(nonsense)
Idiopathic basal ganglia calcification 1
GPathogenic
SLC20A2
(Q46*)
Single nucleotide variant
(nonsense)
Idiopathic basal ganglia calcification 1
+1 more
GPathogenic
SLC20A2, SMIM19
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GBenign
SLC20A2, SMIM19
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2, SMIM19
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GBenign
SLC20A2, SMIM19
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GBenign
LOC130000303, SLC20A2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Duplication
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
LOC130000303, SLC20A2
+1 more
Duplication
(5 prime UTR variant +1 more)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC20A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+2 more
GBenign/Likely benign
SLC20A2
Single nucleotide variant
(intron variant)
Idiopathic basal ganglia calcification 1
+1 more
GBenign
SLC20A2
Single nucleotide variant
(intron variant)
Idiopathic basal ganglia calcification 1
+1 more
GBenign
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+1 more
GBenign/Likely benign
SLC20A2
(V185L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+1 more
GLikely benign
SLC20A2
(R254Q)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
+2 more
GBenign/Likely benign
SLC20A2
(V263I)
Single nucleotide variant
(missense variant)
Idiopathic basal ganglia calcification 1
GBenign
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
GUncertain significance
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+1 more
GConflicting classifications of pathogenicity
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+1 more
GBenign
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+1 more
GConflicting classifications of pathogenicity
SLC20A2
Single nucleotide variant
(synonymous variant)
Idiopathic basal ganglia calcification 1
+1 more
GBenign
SLC20A2
(G304S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SLC20A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC20A2
Single nucleotide variant
(synonymous variant)
SLC20A2-related disorder
+2 more
GBenign/Likely benign
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