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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPC3
(V64fs)
Deletion
(frameshift variant +1 more)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC3
Single nucleotide variant
(intron variant)
Simpson-Golabi-Behmel syndrome type 1
GUncertain significance
GPC3
(P131S +2 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
GUncertain significance
GPC3
Indel
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
(V525fs +3 more)
Deletion
(frameshift variant)
Simpson-Golabi-Behmel syndrome type 1
GUncertain significance
GPC3
(Q94fs)
Deletion
(frameshift variant +1 more)
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
Copy number loss
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
(A178D +2 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
GUncertain significance
GPC3
Single nucleotide variant
(splice donor variant)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC3
(I495V +3 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
GPC3
Single nucleotide variant
(intron variant)
Wilms tumor 1
+1 more
GLikely benign
GPC3
Single nucleotide variant
(synonymous variant)
Wilms tumor 1
+1 more
GLikely benign
GPC3
(E115* +2 more)
Single nucleotide variant
(nonsense)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC3, GPC3-AS1
+2 more
Copy number gain
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
(Q91fs)
Deletion
(frameshift variant +1 more)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GPathogenic/Likely pathogenic
GPC3
(I102N +2 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
GUncertain significance
GPC3
Single nucleotide variant
(splice acceptor variant)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC4
Deletion
(intron variant)
Wilms tumor 1
+3 more
GBenign
GPC3
Single nucleotide variant
(synonymous variant)
Wilms tumor 1
+1 more
GLikely benign
GPC3
Single nucleotide variant
(synonymous variant)
Wilms tumor 1
+1 more
GLikely benign
GPC3
(Y303C +3 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+2 more
GUncertain significance
GPC3
(S40P)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
Single nucleotide variant
(5 prime UTR variant)
Simpson-Golabi-Behmel syndrome type 1
GUncertain significance
GPC3
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
GPC3
Single nucleotide variant
(intron variant)
Wilms tumor 1
+1 more
GUncertain significance
GPC3
(V235M +2 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
(H297Y +3 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
(N493S +3 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
(D431A +3 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
(R39C)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+1 more
GUncertain significance
GPC3
(P47L)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+1 more
GUncertain significance
GPC3
(R505H +3 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GUncertain significance
GPC3
(Q266R +2 more)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+3 more
GConflicting classifications of pathogenicity
GPC3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
GPC3
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
GPC3
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
STK26, TFDP3
+9 more
Copy number loss
Nystagmus 1, congenital, X-linked
+1 more
GPathogenic
MED12
(L675F)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+4 more
GUncertain significance
GPC3
(C498* +3 more)
Single nucleotide variant
(nonsense)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC3
(Q426R +3 more)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+2 more
GUncertain significance
GPC3
(E305K +2 more)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+1 more
GUncertain significance
GPC3
(S325* +2 more)
Single nucleotide variant
(nonsense)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC3
(L523P +3 more)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+1 more
GUncertain significance
GPC3
(N162S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GPC3
Single nucleotide variant
(synonymous variant)
Simpson-Golabi-Behmel syndrome type 1
+1 more
GLikely benign
GPC3
Single nucleotide variant
(synonymous variant)
Wilms tumor 1
+1 more
GLikely benign
GPC3
Single nucleotide variant
(intron variant)
Wilms tumor 1
+1 more
GBenign/Likely benign
GPC3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign
GPC3
(L511fs +3 more)
Deletion
(frameshift variant)
Simpson-Golabi-Behmel syndrome type 1
GLikely pathogenic
GPC3
Single nucleotide variant
(synonymous variant)
Wilms tumor 1
+5 more
GBenign
GPC3
Single nucleotide variant
(synonymous variant)
Wilms tumor 1
+2 more
GBenign/Likely benign
GPC3
(M216I +2 more)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+3 more
GBenign/Likely benign
GPC3
(P544L +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
GPC3
(S411I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GPC3
Copy number loss
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
Deletion
(intron variant)
Wilms tumor 1
+5 more
GBenign/Likely benign
GPC3
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
GPC3
(V429M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GPC3
(R120C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
GPC3
(G556R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
GPC3
(R387* +3 more)
Single nucleotide variant
(nonsense)
Wilms tumor 1
+2 more
GPathogenic
GPC3
Single nucleotide variant
(intron variant +1 more)
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
Deletion
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
(R199* +2 more)
Single nucleotide variant
(nonsense)
Wilms tumor 1
+1 more
GPathogenic
GPC3
Single nucleotide variant
(splice donor variant)
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
(W296R +2 more)
Single nucleotide variant
(missense variant)
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
Deletion
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
GPC3
(C65fs)
Deletion
(frameshift variant +1 more)
Simpson-Golabi-Behmel syndrome type 1
GPathogenic
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