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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BSCL2, HNRNPUL2-BSCL2
(R456H +2 more)
Single nucleotide variant
(missense variant +2 more)
Monogenic diabetes
+5 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(L427P +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Severe neurodegenerative syndrome with lipodystrophy
+10 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(P367L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neurologic Disorders/Seipinopathy
+6 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(W323L +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
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+6 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
(D137N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
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