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Links from Gene

Items: 1 to 100 of 354

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AQP7, ARHGEF39
+75 more
Duplication
not provided
GUncertain significance
APTX
(R246C +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
APTX
(L245F +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
APTX
(I124L +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
APTX
Single nucleotide variant
(splice acceptor variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GLikely pathogenic
APTX
(A118T +6 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
(H24fs +2 more)
Microsatellite
(frameshift variant +2 more)
not provided
GPathogenic
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
Deletion
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
Deletion
(intron variant)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GLikely benign
APTX
(Q77fs)
Duplication
(frameshift variant +3 more)
not provided
GPathogenic
APTX
(Q212* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
Duplication
(intron variant)
not provided
GBenign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Deletion
(intron variant)
not provided
GLikely benign
APTX
Deletion
(intron variant)
APTX-related disorder
+1 more
GLikely benign
APTX
Deletion
(intron variant)
not provided
GBenign
APTX
Deletion
(intron variant)
not provided
GLikely benign
APTX
Microsatellite
(intron variant)
not provided
GLikely benign
ACER2, ACO1
+188 more
Copy number gain
not provided
GPathogenic
APTX
(L224fs +3 more)
Indel
(frameshift variant +2 more)
not provided
GLikely pathogenic
APTX
(S188G +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
APTX
(R159* +4 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy
+1 more
GPathogenic
APTX
(K155fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GLikely pathogenic
APTX
Deletion
not provided
GUncertain significance
ANKRD18B, APTX
+42 more
Duplication
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
+1 more
GUncertain significance
APTX, AQP3
+87 more
Duplication
not provided
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
APTX
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GUncertain significance
APTX
(S121N +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
APTX
(V134L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
APTX
(M227T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
APTX
(M173V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
APTX
(P182L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
APTX
(G62E)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
APTX
(L141P +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
APTX
(S158I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
APTX
(I17F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
(I124V +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
APTX
(S242N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
APTX
Microsatellite
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
APTX
Deletion
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
(K197fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
APTX
(G127V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
(G30D)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
Duplication
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
(R29C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
(M2I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
(R13W)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
(G152V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
APTX
(Q115E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
FOXD4, PLGRKT
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
APTX
(L125fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
ABCA1, ABHD17B
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ACER2, ACO1
+204 more
Copy number gain
Bradycardia
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Tetrasomy 9p
GPathogenic
APTX
(P228S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
(A212V +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Deletion
(intron variant)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GBenign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
APTX
Insertion
(intron variant)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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