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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, HNRNPUL2-BSCL2
(R23C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5C
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(V248A +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5C
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
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+5 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Congenital generalized lipodystrophy type 2
+4 more
GBenign/Likely benign
BSCL2, HNRNPUL2-BSCL2
Microsatellite
(intron variant)
Neuronopathy, distal hereditary motor, type 5C
+4 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+4 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(F84S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+4 more
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
(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
(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
(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
+4 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(T123S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital generalized lipodystrophy type 2
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(E230K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+5 more
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
(Q246R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R265Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5A
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(L255V +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe neurodegenerative syndrome with lipodystrophy
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(G86D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R281W +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
BSCL2-related disorder
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+4 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Severe neurodegenerative syndrome with lipodystrophy
+4 more
GBenign
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
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
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
Microsatellite
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(V248I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(K205R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(Y56C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+5 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
HNRNPUL2-BSCL2, BSCL2
(P258L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital generalized lipodystrophy type 2
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(G319R +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P293S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(S154W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
BSCL2, GNG3
+1 more
(Q21L)
Single nucleotide variant
(genic upstream transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5C
+4 more
GUncertain significance
HNRNPUL2-BSCL2, BSCL2
(S382L +3 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+8 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(N3H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Microsatellite
(non-coding transcript variant +2 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(intron variant)
not specified
+4 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
(I326fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5C
+5 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(G45S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+6 more
GBenign/Likely benign
HNRNPUL2-BSCL2, BSCL2
(W323L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 17
+5 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Severe neurodegenerative syndrome with lipodystrophy
+7 more
GBenign
BSCL2, HNRNPUL2-BSCL2
(C100F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BSCL2-related disorder
+7 more
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
(R281Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R350Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+4 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(K268R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+8 more
GBenign
BSCL2, HNRNPUL2-BSCL2
(L427P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+10 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(S90L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic/Likely pathogenic
BSCL2, HNRNPUL2-BSCL2
(N88S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 17
+8 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(R138* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5C
+2 more
GPathogenic
BSCL2, HNRNPUL2-BSCL2
(T109fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital generalized lipodystrophy type 2
+4 more
GPathogenic
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