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Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060143, LOC130060144
+963 more
Copy number gain
See cases
GPathogenic
MIR6883, MIR744
+923 more
Copy number gain
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC126862500, LOC126862501
+461 more
Copy number gain
See cases
GPathogenic
PIK3R5
(P853S +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PIK3R5
(T465M +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(T852A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3R5
(S457G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
(G808A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(G423S +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant)
PIK3R5-related condition
GLikely benign
PIK3R5
(N398S +3 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(V394del +3 more)
Microsatellite
(inframe_deletion)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(T388M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
(R761W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIK3R5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIK3R5
Single nucleotide variant
(intron variant)
not provided
GBenign
PIK3R5
(I331M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(T300M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(E259G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
PIK3R5-related condition
GLikely benign
PIK3R5
(P629S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PIK3R5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant)
PIK3R5-related condition
+1 more
GBenign/Likely benign
PIK3R5
(A204T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(D199V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R190Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(C572S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(V175M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PIK3R5
(R164Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R159H +1 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(N151S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PIK3R5
(R140W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PIK3R5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIK3R5
(G99S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PIK3R5
(R472Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(E465K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R455Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PIK3R5
(G445A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R441Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R25H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R25C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3R5
(P403S +1 more)
Single nucleotide variant
(missense variant)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(S372L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
(L361F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
(L359S)
Single nucleotide variant
(missense variant +1 more)
PIK3R5-related condition
+2 more
GConflicting classifications of pathogenicity
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
(T336A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
(E321D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PIK3R5
(D319N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(intron variant)
PIK3R5-related condition
GLikely benign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
PIK3R5-related condition
GLikely benign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
Ataxia with oculomotor apraxia type 3
+1 more
GBenign
PIK3R5
Single nucleotide variant
(synonymous variant +2 more)
PIK3R5-related condition
GLikely benign
PIK3R5
(R251Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
PIK3R5
(I243M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
(A234T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
(L223V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
(V211I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign/Likely benign
PIK3R5
(T195A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
PIK3R5
(G186R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R157H)
Single nucleotide variant
(missense variant +1 more)
Ataxia with oculomotor apraxia type 3
GUncertain significance
PIK3R5
(R157G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130060268, LOC130060269
+16 more
Copy number gain
See cases
GLikely benign
PIK3R5
(A132T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(intron variant)
Ataxia with oculomotor apraxia type 3
GBenign
PIK3R5
(L56F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PIK3R5
(G36A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
(R29H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PIK3R5
Single nucleotide variant
(synonymous variant +2 more)
PIK3R5-related condition
GLikely benign
PIK3R5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
PIK3R5
(A5T)
Single nucleotide variant
(missense variant +2 more)
Ataxia with oculomotor apraxia type 3
Gnot provided
PIK3R5, PIK3R5-DT
Microsatellite
not provided
GUncertain significance
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
ALOX12B, ALOX15B
+36 more
Copy number gain
not specified
GUncertain significance
ABR, ACADVL
+240 more
Copy number gain
not provided
GPathogenic
ABR, ACADVL
+250 more
Copy number gain
See cases
GPathogenic
ALOX12B, ALOX15B
+61 more
Copy number gain
See cases
GUncertain significance
TNFSF12, TNFSF12-TNFSF13
+1143 more
Copy number gain
See cases
GPathogenic
AIPL1, AKAP1
+1143 more
Copy number gain
See cases
GPathogenic
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