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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB4
(R60H)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 5A, intermediate
+1 more
GUncertain significance
GALK1, ITGB4
(T1696I +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
GALK1, ITGB4
(D1450N +2 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GUncertain significance
ITGB4
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GBenign/Likely benign
ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GLikely benign
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GBenign
GALK1, ITGB4
(G1680R +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GBenign/Likely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GLikely benign
ITGB4
(A448V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+3 more
GConflicting classifications of pathogenicity
ITGB4
(T168A)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
(S1567L +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+3 more
GUncertain significance
GALK1, ITGB4
(G1340R)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
ITGB4
(D1191N)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
ITGB4
(R1074H)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 5A, intermediate
+3 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
(V1640M +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
GALK1, ITGB4
(G1544D +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+3 more
GUncertain significance
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
(R1485Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GUncertain significance
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
(D1109fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
GALK1, ITGB4
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GLikely benign
GALK1, ITGB4
(E1628fs +2 more)
Deletion
(frameshift variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GLikely pathogenic
GALK1, ITGB4
(R1355H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
ITGB4
(G919S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
(D230E)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
(R116W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GALK1, ITGB4
(E1702K +2 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
GALK1, ITGB4
(S1758N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GALK1, ITGB4
(P1738L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
(P1481L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GALK1, ITGB4
(A1468T +1 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ITGB4
(P835T)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+3 more
GConflicting classifications of pathogenicity
ITGB4
(G449S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
(R1475fs +2 more)
Microsatellite
(frameshift variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GPathogenic/Likely pathogenic
ITGB4
(R945Q)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GBenign
ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GLikely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GLikely benign
ITGB4
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ITGB4
(I1143V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GBenign/Likely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ITGB4
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GLikely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GLikely benign
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
GALK1, ITGB4
(R1542C +2 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GUncertain significance
GALK1, ITGB4
Single nucleotide variant
(intron variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+4 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
(E1727Q +2 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
GALK1, ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
ITGB4
(D1106G)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
(R1072Q)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
ITGB4
(R977C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ITGB4
(R892C)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
ITGB4
(P835A)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GLikely benign
ITGB4
(P708L)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
ITGB4
(R401W)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+3 more
GUncertain significance
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
ITGB4
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GBenign/Likely benign
GALK1, ITGB4
(A1455fs +2 more)
Deletion
(frameshift variant +1 more)
Epidermolysis bullosa, junctional 5A, intermediate
GPathogenic
ITGB4
(G931D)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 5A, intermediate
GPathogenic
ITGB4
(C61Y)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 5A, intermediate
+3 more
GPathogenic/Likely pathogenic
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