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Items: 1 to 100 of 564

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHNAK, ASRGL1
+110 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+105 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+95 more
Copy number gain
See cases
GPathogenic
B3GAT3, BSCL2
+70 more
Copy number gain
See cases
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5A
+1 more
GUncertain significance
HNRNPUL2-BSCL2, BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital generalized lipodystrophy type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R390fs +2 more)
Deletion
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(S398Y +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5C
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(C395S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(C395Y +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(T394I +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(P457S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(R456H +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(R456Q +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R390L +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R454* +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Severe neurodegenerative syndrome with lipodystrophy
+1 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(A452S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
HNRNPUL2-BSCL2, BSCL2
(G387A +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
HNRNPUL2-BSCL2, BSCL2
(G446S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(T378I +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(V375I +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(P438L +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Microsatellite
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(A373V +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary spastic paraplegia 17
+3 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Microsatellite
(non-coding transcript variant +2 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
(A437P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(S434P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(S434A +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Microsatellite
(inframe_insertion +2 more)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(A369V +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5A
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P432L +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(A367P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P430T +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P366S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Duplication
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P364S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+7 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(L427P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+10 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(N426S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(N362D +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(E426Q +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+4 more
GLikely benign
HNRNPUL2-BSCL2, BSCL2
(T359M +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(L358V +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary spastic paraplegia 17
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(S351F +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Insertion
(splice acceptor variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(splice acceptor variant)
Congenital generalized lipodystrophy type 2
GLikely pathogenic
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+4 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Congenital generalized lipodystrophy type 2
+5 more
GBenign/Likely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Congenital generalized lipodystrophy type 2
+2 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
HNRNPUL2-BSCL2, BSCL2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(P407L +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(E340del +2 more)
Microsatellite
(inframe_deletion +2 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(G337E +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(G337R +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+2 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(P334L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P334R +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(K329N +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(E394del +3 more)
Microsatellite
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(E391K +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(E326Q +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(E326K +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+7 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P278L)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(Q387R +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 17
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(Q323* +2 more)
Single nucleotide variant
(nonsense +2 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
BSCL2, HNRNPUL2-BSCL2
Deletion
(splice acceptor variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(E387Q +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(Q273R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(T384A +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
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