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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GANAB
Deletion
(splice donor variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(V373M +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
Deletion
(splice donor variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GPathogenic
GANAB
(D383H +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(Q101fs +4 more)
Deletion
(frameshift variant +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(W112* +4 more)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(R173* +2 more)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(R571* +5 more)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(E13K +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(G566A +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(R355H +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(A143D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GANAB
(Y236H +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(T75M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GANAB
(T598I +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GPathogenic
GANAB
(R703* +5 more)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
Single nucleotide variant
(intron variant +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(D537E +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB
(P193R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GANAB
Single nucleotide variant
(intron variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GLikely benign
GANAB
Single nucleotide variant
(intron variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GBenign/Likely benign
GANAB
Single nucleotide variant
(intron variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GBenign/Likely benign
GANAB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GANAB
(F411del +5 more)
Microsatellite
(inframe_deletion)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(V85M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Polycystic kidney disease 3 with or without polycystic liver disease
+2 more
GUncertain significance
GANAB
(E139K +2 more)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB
Single nucleotide variant
(intron variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GConflicting classifications of pathogenicity
GANAB
(A69V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GANAB
(V524I +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GLikely benign
GANAB
(R164* +2 more)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GPathogenic/Likely pathogenic
GANAB
(R195H +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+2 more
GUncertain significance
GANAB
(M485T +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB
(R433Q +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB
(P108L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GANAB
Single nucleotide variant
(intron variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GBenign/Likely benign
GANAB
(V88M)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GANAB
(T195M +1 more)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB
(N415T +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(R237Q +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GUncertain significance
GANAB
(R584Q +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB
(S289T +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GUncertain significance
GANAB, INTS5
Deletion
Polycystic kidney disease 3 with or without polycystic liver disease
GPathogenic
GANAB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GANAB
Single nucleotide variant
(synonymous variant +1 more)
Polycystic kidney disease 3 with or without polycystic liver disease
+1 more
GBenign/Likely benign
PKD1
Single nucleotide variant
(intron variant)
PKD1-related condition
+2 more
GPathogenic/Likely pathogenic
PKD1
(V1899fs)
Duplication
(frameshift variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
PKD1
(V2371fs)
Deletion
(frameshift variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GPathogenic
GANAB
(R886* +5 more)
Single nucleotide variant
(nonsense)
Autosomal dominant polycystic liver disease
+1 more
GPathogenic/Likely pathogenic
PKD1
(L727P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+3 more
GConflicting classifications of pathogenicity
PKD1
(F2132C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+3 more
GConflicting classifications of pathogenicity
GANAB
(R51fs)
Microsatellite
(5 prime UTR variant +2 more)
GANAB-related condition
+2 more
GPathogenic/Likely pathogenic
GANAB
(R839W +5 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GLikely pathogenic
GANAB
(D377fs +5 more)
Deletion
(frameshift variant)
Polycystic kidney disease 3 with or without polycystic liver disease
GPathogenic
PKD1
(L845S)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+2 more
GPathogenic/Likely pathogenic
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