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Links from MedGen

Items: 1 to 100 of 432

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALK1, ITGB4
(T1455I +1 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
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
GALK1, ITGB4
(L1488F +1 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GConflicting classifications of pathogenicity
ITGB4
(R630H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
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
PLEC
(R1806W +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+5 more
GUncertain significance
GALK1, ITGB4
(S1567L +2 more)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+3 more
GUncertain significance
PLEC
(F1051L +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 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
PLEC
(G3226S +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+4 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
ITGB4
(A266fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ITGB4
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa, non-Herlitz type
+3 more
GBenign
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 1C, localized
+3 more
GBenign
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
PLEC
(P168L)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+7 more
GBenign/Likely benign
ITGA6
(H186fs +1 more)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
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
(T1236fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GPathogenic
ITGB4
(D1109fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
ITGB4
(R1014W)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ITGB4
(L822S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
(C671S)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
(C457Y)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
(Y333D)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
(R283C)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
(G234V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
Deletion
(splice donor variant)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
PLEC
(E1634G +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GUncertain significance
ITGA6
(G160R +1 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
(D861fs +2 more)
Insertion
(frameshift variant)
Junctional epidermolysis bullosa with pyloric atresia
GLikely pathogenic
GALK1, ITGB4
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa, junctional 5A, intermediate
+2 more
GLikely benign
GALK1, ITGB4
(N1509fs +2 more)
Duplication
(frameshift variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGB4
(N318I)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
GALK1, ITGB4
(E1628fs +2 more)
Deletion
(frameshift variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GLikely pathogenic
PLEC
(G3559S +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GUncertain significance
PLEC
(E4091del +6 more)
Deletion
(inframe_deletion)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+5 more
GUncertain significance
ITGB4
Copy number loss
Junctional epidermolysis bullosa with pyloric atresia
GPathogenic
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
PDK1-AS1, ITGA6
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
PDK1-AS1, ITGA6
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
PDK1-AS1, ITGA6
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GLikely benign
PDK1-AS1, ITGA6
(E1065Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
(T729I +1 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
PDK1-AS1, ITGA6
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6
Single nucleotide variant
(5 prime UTR variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GLikely benign
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
(R1053G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Epidermolysis bullosa, junctional 6, with pyloric atresia
+1 more
GBenign
ITGA6, PDK1-AS1
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
(I498T +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa, junctional 6, with pyloric atresia
+2 more
GConflicting classifications of pathogenicity
ITGA6
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6
(T387I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GLikely benign
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
(K952T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ITGA6
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6
(M440V +1 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ITGA6
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ITGA6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GBenign
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GLikely benign
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GLikely benign
ITGA6, PDK1-AS1
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
(L807P +2 more)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGA6, PDK1-AS1
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GConflicting classifications of pathogenicity
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
GALK1, ITGB4
(S1356F)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GUncertain significance
GALK1, ITGB4
(R1355H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa with pyloric atresia
+2 more
GUncertain significance
GALK1, ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
+1 more
GConflicting classifications of pathogenicity
ITGB4
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
ITGB4
(T973N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ITGB4
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
GUncertain significance
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