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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCE
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
TBCE
(P81L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TBCE
(S52N)
Single nucleotide variant
(missense variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
(R24H)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy, progressive, with amyotrophy and optic atrophy
+3 more
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
(R24C)
Single nucleotide variant
(missense variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
(I119fs)
Deletion
(frameshift variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GLikely pathogenic
TBCE
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(intron variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GBenign/Likely benign
TBCE
(R110W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(splice donor variant)
TBCE-related disorder
+3 more
GConflicting classifications of pathogenicity
TBCE
(G94E)
Single nucleotide variant
(missense variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
+2 more
GLikely benign
TBCE
(P64L)
Single nucleotide variant
(missense variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
+2 more
GLikely benign
TBCE
Single nucleotide variant
(synonymous variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GConflicting classifications of pathogenicity
TBCE
Deletion
Hypoparathyroidism-retardation-dysmorphism syndrome
GPathogenic
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE, B3GALNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GLikely benign
B3GALNT2, TBCE
Duplication
(3 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
B3GALNT2, TBCE
(R526Q +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
+3 more
GConflicting classifications of pathogenicity
B3GALNT2, TBCE
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GBenign/Likely benign
B3GALNT2, LOC126806060
+1 more
(P466L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
TBCE
Deletion
(intron variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
(Y418C +2 more)
Single nucleotide variant
(missense variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GUncertain significance
TBCE
(E409G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TBCE
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TBCE
Single nucleotide variant
(synonymous variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(synonymous variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(synonymous variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(intron variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
(V205A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
(C141Y +1 more)
Single nucleotide variant
(missense variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(intron variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TBCE
Microsatellite
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Microsatellite
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Microsatellite
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
TBCE
Single nucleotide variant
(5 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(5 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GUncertain significance
TBCE
Single nucleotide variant
(5 prime UTR variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
GLikely benign
TBCE
(P72S)
Single nucleotide variant
(missense variant +1 more)
Hypoparathyroidism-retardation-dysmorphism syndrome
+2 more
GBenign/Likely benign
TBCE
(A149G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
B3GALNT2, TBCE
(L489I +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCE
(I85V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCE
(S333T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TBCE
(K48fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive Kenny-Caffey syndrome
+2 more
GPathogenic/Likely pathogenic
TBCE
(I283F +2 more)
Single nucleotide variant
(missense variant)
Hypoparathyroidism-retardation-dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
TBCE
(C371* +2 more)
Single nucleotide variant
(nonsense)
Hypoparathyroidism-retardation-dysmorphism syndrome
GPathogenic
TBCE
(V23fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
TBCE
Deletion
(inframe_deletion +1 more)
Encephalopathy, progressive, with amyotrophy and optic atrophy
+2 more
GPathogenic/Likely pathogenic
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