U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 243

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
ABTB3, ACACB
+316 more
Copy number loss
See cases
GPathogenic
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
LOC130008738, ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GBenign
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
LOC130008738, ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GBenign
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2, LOC130008738
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GBenign
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GBenign
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Keratosis follicularis
GBenign
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign/Likely benign
ATP2A2
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ATP2A2
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ATP2A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ATP2A2
(G23E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ATP2A2
(L32F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP2A2
(R35S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
Microsatellite
(splice acceptor variant)
not provided
GLikely pathogenic
ATP2A2
Microsatellite
not provided
GPathogenic
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2A2
(E44G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
GLikely benign
ATP2A2
Deletion
(intron variant)
Acrokeratosis verruciformis of Hopf
+1 more
GConflicting classifications of pathogenicity
ATP2A2
Insertion
(intron variant)
Keratosis follicularis
GPathogenic
ATP2A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2A2
(F73S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP2A2
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP2A2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2A2
(L98fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
ATP2A2
Single nucleotide variant
(synonymous variant)
Keratosis follicularis
GUncertain significance
ATP2A2
(I103V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP2A2
(Q108*)
Single nucleotide variant
(nonsense)
Keratosis follicularis
GPathogenic
ATP2A2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ATP2A2
(I116fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ATP2A2
(E121D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP2A2
(M91I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP2A2
(R131L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
(R131Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ATP2A2
(K108fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ATP2A2
(I110fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ATP2A2
Deletion
(intron variant)
not provided
GLikely benign
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
+1 more
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2A2
(G156V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP2A2
(P125L +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ATP2A2
(D127N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
(K169R)
Single nucleotide variant
(missense variant)
Keratosis follicularis
GUncertain significance
ATP2A2
(S178L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP2A2
Insertion
(nonsense)
not provided
GLikely pathogenic
ATP2A2
Single nucleotide variant
(splice donor variant)
Keratosis follicularis
GPathogenic
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP2A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ATP2A2
(E58K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
Single nucleotide variant
(synonymous variant)
Keratosis follicularis
GUncertain significance
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2A2
(V159I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP2A2
(P195A)
Single nucleotide variant
(missense variant)
Keratosis follicularis
GUncertain significance
ATP2A2
(G176D +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ATP2A2
(V223M +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP2A2
(V223L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP2A2
(T230A)
Single nucleotide variant
(missense variant)
Acrokeratosis verruciformis of Hopf
GUncertain significance
ATP2A2
(I110N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
(D112G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2A2
(C268F)
Single nucleotide variant
(missense variant)
Darier disease, acral hemorrhagic type
GPathogenic
ATP2A2
(A268V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2A2
(P212fs +2 more)
Deletion
(frameshift variant)
Keratosis follicularis
GLikely pathogenic
ATP2A2
(S213F +2 more)
Single nucleotide variant
(missense variant)
Keratosis follicularis
GPathogenic
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2A2
(T228S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
Acrokeratosis verruciformis of Hopf
+3 more
GBenign/Likely benign
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2A2
(M366V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP2A2
(G374R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP2A2
Single nucleotide variant
(synonymous variant)
Keratosis follicularis
GLikely benign
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2A2
(I349V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
Format
Items per page
Sort by
Choose Destination