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Links from MedGen

Items: 1 to 100 of 270

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(F1214del)
Microsatellite
(inframe_deletion)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Deletion
(inframe_deletion)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G1489D)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2578A)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(A1654fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(intron variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(splice donor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(E1451fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
Duplication
(splice acceptor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(A159fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GPathogenic
COL7A1
(K1556fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
COL7A1
(K1325fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2386D)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G2419D)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(splice acceptor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(R2008L)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(D850Y)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(intron variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G2357R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
Single nucleotide variant
(splice donor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(Q265*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
COL7A1
(G2749*)
Single nucleotide variant
(nonsense)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(S1227fs)
Microsatellite
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(Q1199*)
Single nucleotide variant
(nonsense)
Transient bullous dermolysis of the newborn
+3 more
GLikely pathogenic
COL7A1
(G2542R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(K2309N)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(intron variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Indel
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(R1957Q)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
COL7A1
(G2150S)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
COL7A1
(R1944W)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
COL7A1
Duplication
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
COL7A1
(G1417fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(P1775fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2254fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2692D)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(L2246F)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+2 more
GConflicting classifications of pathogenicity
COL7A1
(R2927H)
Single nucleotide variant
(missense variant)
Pretibial dystrophic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
COL7A1
(G2254R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GLikely pathogenic
COL7A1
(K1693E)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GUncertain significance
COL7A1
Single nucleotide variant
(splice acceptor variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GLikely pathogenic
COL7A1
(G1673E)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GLikely pathogenic
COL7A1
(G2233S)
Single nucleotide variant
Pretibial dystrophic epidermolysis bullosa
+3 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(splice acceptor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2910V)
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
COL7A1
(G2749fs)
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2734R)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(E27V)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Deletion
(genic downstream transcript variant)
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
Single nucleotide variant
(splice donor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
Single nucleotide variant
Transient bullous dermolysis of the newborn
+2 more
GPathogenic/Likely pathogenic
COL7A1
(G2278R)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G2245S)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2216E)
Single nucleotide variant
not provided
+1 more
GPathogenic
COL7A1
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2025S)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(P1894fs)
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G1890V)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G1667W)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G1610fs)
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G1528D)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(splice acceptor variant)
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
Deletion
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Duplication
not provided
+1 more
GPathogenic
COL7A1
Single nucleotide variant
(splice acceptor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2806fs)
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
Deletion
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
not provided
+1 more
GPathogenic/Likely pathogenic
COL7A1
(K2309T)
Single nucleotide variant
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G115fs)
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
Deletion
Recessive dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G1890S)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
Single nucleotide variant
(intron variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G1854R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
COL7A1
(G2049R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(K1518E)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GPathogenic
COL7A1
(P423L)
Single nucleotide variant
(missense variant)
Pretibial dystrophic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
COL7A1
(R226*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
COL7A1
(D2570fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL7A1
(M2415fs)
Duplication
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GPathogenic
COL7A1
(E903fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL7A1
Duplication
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+1 more
GPathogenic/Likely pathogenic
COL7A1
(R1201H)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GUncertain significance
COL7A1
(S1984L)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
COL7A1
(F1213fs)
Deletion
(frameshift variant)
not provided
+7 more
GPathogenic/Likely pathogenic
COL7A1
(G1901S)
Single nucleotide variant
(missense variant)
Transient bullous dermolysis of the newborn
+7 more
GUncertain significance
COL7A1
(G2740A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL7A1
(P1472T)
Single nucleotide variant
(missense variant)
Dominant dystrophic epidermolysis bullosa with absence of skin
+7 more
GConflicting classifications of pathogenicity
COL7A1
(R2541*)
Single nucleotide variant
(nonsense)
COL7A1-related disorder
+2 more
GPathogenic/Likely pathogenic
COL7A1
(G2749E)
Single nucleotide variant
(missense variant)
COL7A1-related disorder
+2 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(splice donor variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(E2857*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
COL7A1
Single nucleotide variant
(intron variant)
Recessive dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G1673R)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2372E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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