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Links from MedGen

Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(G271R)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G2037V)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(R2927H)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa pruriginosa
+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
(G1913V)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2746R)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G2626D)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2626S)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2079K)
Indel
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2070E)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2064E)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
+1 more
GPathogenic
COL7A1
(G2046S)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2012D)
Single nucleotide variant
not provided
+1 more
GPathogenic
COL7A1
(G2009R)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
+1 more
GPathogenic
COL7A1
(G2006S)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G2003E)
Single nucleotide variant
not provided
+1 more
GPathogenic
COL7A1
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(G1922E)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G1773D)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GPathogenic
COL7A1
(G1700V)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G1534E)
Single nucleotide variant
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(K1518E)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GUncertain significance
COL7A1
(P423L)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
COL7A1
(R1201H)
Single nucleotide variant
(missense variant)
Nonsyndromic congenital nail disorder 8
+7 more
GUncertain significance
COL7A1
(S1984L)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
COL7A1
(F1213fs)
Deletion
(frameshift variant)
Pretibial dystrophic epidermolysis bullosa
+7 more
GPathogenic/Likely pathogenic
COL7A1
(G1901S)
Single nucleotide variant
(missense variant)
Pretibial dystrophic epidermolysis bullosa
+7 more
GUncertain significance
COL7A1
(P1472T)
Single nucleotide variant
(missense variant)
Transient bullous dermolysis of the newborn
+7 more
GConflicting classifications of pathogenicity
COL7A1
(G2659E)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
GUncertain significance
COL7A1
(R1482Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
COL7A1
(G2245D)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
(G2079R)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
+1 more
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GPathogenic
COL7A1
(Q189*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
COL7A1
(G1338R)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
COL7A1
(Q929fs)
Microsatellite
(frameshift variant)
Epidermolysis bullosa dystrophica
+3 more
GPathogenic
COL7A1
(G2040D)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa dystrophica
+1 more
GPathogenic
COL7A1
(E109fs)
Insertion
(frameshift variant)
Epidermolysis bullosa dystrophica
+4 more
GPathogenic
COL7A1
(R20fs)
Deletion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GPathogenic
COL7A1
(R1068H)
Single nucleotide variant
(missense variant)
Dominant dystrophic epidermolysis bullosa with absence of skin
+7 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(splice donor variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GPathogenic/Likely pathogenic
COL7A1
(G101V)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+6 more
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GUncertain significance
COL7A1
(R1660W)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
COL7A1
(P1663T)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
COL7A1
(R1977C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
COL7A1
(D2007E)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GLikely benign
COL7A1
(R2346C)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GUncertain significance
COL7A1
(P2445L)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+6 more
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(synonymous variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GLikely benign
COL7A1
(D850N)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(synonymous variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GLikely benign
COL7A1
(Q1013H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
COL7A1
(L1276F)
Single nucleotide variant
(missense variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GUncertain significance
COL7A1
(R1388C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GLikely benign
COL7A1
(G1712fs)
Insertion
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+3 more
GPathogenic
COL7A1
(M1189T)
Single nucleotide variant
(missense variant)
Pretibial dystrophic epidermolysis bullosa
+8 more
GUncertain significance
COL7A1
(E1521Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa dystrophica
+8 more
GUncertain significance
COL7A1
(R1529C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa dystrophica
+8 more
GConflicting classifications of pathogenicity
COL7A1
(R1334C)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
COL7A1
(R1630Q)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
COL7A1
(R1696C)
Single nucleotide variant
(missense variant)
COL7A1-related condition
+10 more
GConflicting classifications of pathogenicity
COL7A1
(R1340*)
Single nucleotide variant
(nonsense)
Transient bullous dermolysis of the newborn
+7 more
GPathogenic
COL7A1
(G2233fs)
Deletion
(frameshift variant)
Generalized dominant dystrophic epidermolysis bullosa
+1 more
GLikely pathogenic
COL7A1
(G2009E)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
GLikely pathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(R1538H)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
COL7A1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa dystrophica
+8 more
GBenign/Likely benign
COL7A1
(R1120K)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(R1408W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
Epidermolysis bullosa dystrophica
+1 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(intron variant)
Epidermolysis bullosa dystrophica
+1 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(R1506Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa dystrophica
+1 more
GConflicting classifications of pathogenicity
COL7A1
(R1202H)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta type 1
+2 more
GConflicting classifications of pathogenicity
COL7A1
(P2438R)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL7A1
Single nucleotide variant
(intron variant)
Recessive dystrophic epidermolysis bullosa
+8 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(splice donor variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GLikely pathogenic
COL7A1
(R1632*)
Single nucleotide variant
(nonsense)
Recessive dystrophic epidermolysis bullosa
+7 more
GPathogenic
COL7A1
(R1343*)
Single nucleotide variant
(nonsense)
Recessive dystrophic epidermolysis bullosa
+7 more
GPathogenic
COL7A1
(G636V)
Single nucleotide variant
(missense variant)
Pretibial dystrophic epidermolysis bullosa
+8 more
GConflicting classifications of pathogenicity
COL7A1
(R137*)
Single nucleotide variant
(nonsense)
Recessive dystrophic epidermolysis bullosa
+7 more
GPathogenic
COL7A1
(G2055E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa pruriginosa
+9 more
GConflicting classifications of pathogenicity
COL7A1
(G2760R)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
+6 more
GLikely pathogenic
COL7A1
(G2028R)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
COL7A1
(R669*)
Single nucleotide variant
(nonsense)
Recessive dystrophic epidermolysis bullosa
+16 more
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
Recessive dystrophic epidermolysis bullosa
+7 more
GPathogenic
COL7A1
(G2177fs)
Duplication
(frameshift variant)
Recessive dystrophic epidermolysis bullosa
+10 more
GPathogenic
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