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Links from Gene

Items: 1 to 100 of 484

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSS1
(P82T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(T55M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(S31Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(Y283C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(G150R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(V33L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(G265E +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 5
GLikely pathogenic
ADSS1
Deletion
(splice donor variant +1 more)
not specified
GUncertain significance
ADSS1
Deletion
not provided
GPathogenic
ADSS1, INF2
Deletion
not provided
GPathogenic
ADSS1, AHNAK2
+40 more
Deletion
Herpes simplex encephalitis, susceptibility to, 3
GUncertain significance
ADSS1, AHNAK2
+70 more
Copy number loss
not provided
GPathogenic
ADSS1
(P41T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(A23T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(G211E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(G200E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(K18R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(F110L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(G13S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(H126R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(G108E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(R79M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(I59V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(D43E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(Y174N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADSS1
(D138N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(R338H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(V331A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(V35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(V35M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(R304C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1, LOC130056631
(T34M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
Insertion
(splice donor variant)
Myopathy, distal, 5
GUncertain significance
CLBA1, COA8
+65 more
Copy number loss
not specified
GPathogenic
ADSS1
Single nucleotide variant
(5 prime UTR variant +2 more)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(3 prime UTR variant)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
ADSS1-related disorder
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
(H148R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
(Q148* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
ADSS1
(R233* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADSS1
Deletion
not provided
GPathogenic
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ADSS1
(Q17*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
ADSS1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ADSS1
(D261A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
(G254fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ADSS1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ADSS1
(W204* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ADSS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IGHV3-23, INF2
+91 more
Copy number loss
not provided
GPathogenic
CDCA4, IGHA2
+32 more
Copy number gain
not provided
GUncertain significance
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ADSS1, LOC130056631
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADSS1
(A218G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(R99S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(A242T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(I172F +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130056644, LOC130056645
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADSS1, AHNAK2
+50 more
Copy number loss
not provided
GPathogenic
ADSS1
(H126fs +1 more)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
ADSS1
(T209I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(G15C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(N223D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(A134P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ADSS1
(N187I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADSS1
(V138A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
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