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Items: 1 to 100 of 1345

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
C1orf74, CAMK1G
+97 more
Copy number loss
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
LAMB3
Single nucleotide variant
Junctional epidermolysis bullosa
GBenign
LAMB3
Single nucleotide variant
Junctional epidermolysis bullosa
GLikely benign
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GLikely benign
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GLikely benign
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
LAMB3
Single nucleotide variant
(3 prime UTR variant)
Junctional epidermolysis bullosa
GLikely benign
LAMB3
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
LAMB3
Deletion
(frameshift variant +1 more)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(V1165M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(R1164H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
(R1164C)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta type 1A
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(H1160R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMB3
(E1155fs)
Deletion
(frameshift variant)
Amelogenesis imperfecta
GPathogenic
LAMB3
(R1153S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(G1149fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(A1145V)
Indel
(missense variant)
not provided
GUncertain significance
LAMB3
(A1145V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta type 1A
+5 more
GBenign
LAMB3
(S1144*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta type 1A
GPathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(R1143H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(A1139V)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(R1135Q)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+2 more
GUncertain significance
LAMB3
(R1135W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(E1132fs)
Duplication
(frameshift variant)
Amelogenesis imperfecta type 1A
GPathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(splice acceptor variant)
Amelogenesis imperfecta type 1A
GPathogenic
LAMB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMB3
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(splice donor variant)
Amelogenesis imperfecta type 1A
GLikely pathogenic
LAMB3
(M1123K)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(E1114*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta type 1A
GPathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(A1112T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(T1110I)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa gravis of Herlitz
+2 more
GUncertain significance
LAMB3
(V1108G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(Q1106H)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(G1102fs)
Deletion
(frameshift variant)
Amelogenesis imperfecta type 1A
GLikely pathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(L1098P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
Indel
(inframe_indel)
not provided
GUncertain significance
LAMB3
(Q1094K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
(R1091Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
(R1091G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LAMB3
(K1084fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMB3
(Q1083*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
GPathogenic
LAMB3
(R1080fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
LAMB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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