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Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM10, ALDH1A2
+287 more
Copy number loss
See cases
GPathogenic
LOC126862145, LOC126862146
+140 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+163 more
Copy number loss
See cases
GPathogenic
ADAM10
(R717C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(R705W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(R734S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(R703C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(I698T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(Q696R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Duplication
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(synonymous variant)
ADAM10-related disorder
GBenign
ADAM10
(A645T +1 more)
Single nucleotide variant
(missense variant)
Reticulate acropigmentation of Kitamura
GUncertain significance
ADAM10
Deletion
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
(P633S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(P597S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(M571T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
(D555E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(A552P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(E548K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(I571M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(I571V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(N533S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(P519Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(I504V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(C524Y +1 more)
Single nucleotide variant
(missense variant)
Reticulate acropigmentation of Kitamura
GPathogenic
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Duplication
(intron variant)
not provided
GBenign
ADAM10
Deletion
(intron variant)
not provided
GBenign
ADAM10
Deletion
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
(S504N +1 more)
Single nucleotide variant
(missense variant)
Reticulate acropigmentation of Kitamura
GPathogenic
ADAM10
(P459L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(E439G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(T391fs +1 more)
Deletion
(frameshift variant)
Reticulate acropigmentation of Kitamura
GPathogenic
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
(I363V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Single nucleotide variant
(intron variant)
ADAM10-related disorder
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADAM10
(D251E +1 more)
Single nucleotide variant
(missense variant)
Reticulate acropigmentation of Kitamura
GUncertain significance
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Duplication
(intron variant)
not provided
GBenign
ADAM10
Deletion
(intron variant)
not provided
GBenign
ADAM10
(K211R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAM10
(P197H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
(M187I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(R181G)
Single nucleotide variant
(missense variant)
Alzheimer disease 18
Grisk factor
ADAM10
(Q170H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADAM10
(G168S)
Single nucleotide variant
(missense variant)
ADAM10-related disorder
GLikely benign
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
(H152P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADAM10
(Y143*)
Single nucleotide variant
(nonsense)
Reticulate acropigmentation of Kitamura
GPathogenic
ADAM10
(R142fs)
Insertion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ADAM10
(P139S)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ADAM10
(P139S +1 more)
Single nucleotide variant
(missense variant +1 more)
Reticulate acropigmentation of Kitamura
GPathogenic
ADAM10
(I120T)
Single nucleotide variant
(missense variant)
Corticobasal syndrome
GUncertain significance
ADAM10
Single nucleotide variant
(intron variant)
Reticulate acropigmentation of Kitamura
+2 more
GBenign/Likely benign
ADAM10
Single nucleotide variant
(synonymous variant)
ADAM10-related disorder
GLikely benign
ADAM10
(S80F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAM10
(H70Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(H65P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
(H55D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Single nucleotide variant
(synonymous variant)
ADAM10-related disorder
GLikely benign
ADAM10
(G19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM10
Single nucleotide variant
(intron variant)
ADAM10-related disorder
GLikely benign
ADAM10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAM10
(L7S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM10
Microsatellite
(5 prime UTR variant)
ADAM10-related disorder
GBenign
ADAM10, LOC130057158
Single nucleotide variant
not provided
GBenign
ADAM10, LOC130057158
Single nucleotide variant
not provided
GBenign
ADAM10, LOC130057159
Single nucleotide variant
not provided
GBenign
ADAM10, LOC130057159
Single nucleotide variant
not provided
GBenign
ADAM10, ALDH1A2
+35 more
Copy number loss
not provided
GPathogenic
ADAM10, ALDH1A2
+81 more
Copy number gain
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
SLTM, ADAM10
+1 more
Copy number gain
not provided
GUncertain significance
ADAM10, AQP9
+1 more
Copy number gain
not provided
GUncertain significance
ADAM10, ALDH1A2
+6 more
Copy number gain
not provided
GUncertain significance
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
ADAM10, AQP9
+11 more
Copy number gain
not provided
GUncertain significance
ADAM10, ALDH1A2
+5 more
Copy number gain
not provided
GUncertain significance
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAM10, ALDH1A2
+17 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+6 more
Copy number gain
See cases
GLikely pathogenic
ADAM10, ALDH1A2
+37 more
Copy number loss
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
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