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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VIPAS39
Single nucleotide variant
(splice acceptor variant +1 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
GUncertain significance
VIPAS39
(W106fs +1 more)
Deletion
(frameshift variant +1 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
GLikely pathogenic
VIPAS39
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GLikely pathogenic
VIPAS39
(R190* +4 more)
Single nucleotide variant
(nonsense +2 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
+1 more
GPathogenic
VIPAS39
Single nucleotide variant
(intron variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GLikely benign
VIPAS39
(R381* +6 more)
Single nucleotide variant
(nonsense +2 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
Indel
(nonsense +1 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
Single nucleotide variant
(intron variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
+1 more
GBenign/Likely benign
VIPAS39
(D456N +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GUncertain significance
VIPAS39
(T286A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
VIPAS39
Duplication
(inframe_insertion)
Arthrogryposis, renal dysfunction, and cholestasis 2
GLikely pathogenic
VIPAS39
(W395* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
(H226R +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GLikely pathogenic
VIPAS39
(S485R +1 more)
Single nucleotide variant
(missense variant)
VIPAS39-related condition
+2 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
(M1R)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
(Q291* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
(R220* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
(T201fs +1 more)
Deletion
(frameshift variant)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
VIPAS39
(Q179* +1 more)
Single nucleotide variant
(nonsense)
Arthrogryposis, renal dysfunction, and cholestasis 2
GPathogenic
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