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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
(S487L +1 more)
Single nucleotide variant
(missense variant)
VIPAS39-related condition
+2 more
GConflicting classifications of pathogenicity
VIPAS39
(S485R +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
+2 more
GConflicting classifications of pathogenicity
VIPAS39
(A465T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
(R455W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
VIPAS39-related condition
+1 more
GConflicting classifications of pathogenicity
VIPAS39
(V450I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(N439D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(N429S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
VIPAS39-related condition
+1 more
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
VIPAS39
(R409P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
(K400R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(T399I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(T361A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
VIPAS39
Single nucleotide variant
(synonymous variant)
VIPAS39-related condition
+1 more
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(R320* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
VIPAS39
(G314R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
(T295M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
VIPAS39
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
VIPAS39
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(R176H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
(R165Q +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
+1 more
GUncertain significance
VIPAS39
(R162Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(T160I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(S156N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(D154A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(P139S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(A134V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(T132S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
VIPAS39
(R91Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(G79C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
(R56Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(V46M)
Single nucleotide variant
(missense variant)
VIPAS39-related condition
+2 more
GBenign/Likely benign
VIPAS39
(D44Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(R37Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VIPAS39
(D24N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
(K18R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
VIPAS39
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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