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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPKBP1
(Q743* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 20
GLikely pathogenic
MAPKBP1
(N87S)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 20
GUncertain significance
MAPKBP1
(I476V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 20
GUncertain significance
MAPKBP1
(S424fs +1 more)
Microsatellite
(frameshift variant +1 more)
MAPKBP1-related disorder
+1 more
GPathogenic/Likely pathogenic
MAPKBP1
(N76S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MAPKBP1
(E33Q)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 20
GUncertain significance
MAPKBP1
(S1339T +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 20
GUncertain significance
MAPKBP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MAPKBP1
(A1221V +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 20
GUncertain significance
MAPKBP1
(R744C +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 20
GUncertain significance
MAPKBP1
(R1102C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAPKBP1
(R318* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 20
GLikely pathogenic
MAPKBP1
(R752W +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 20
+1 more
GBenign/Likely benign
MAPKBP1
(T663I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
MAPKBP1
(G1350C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
MAPKBP1
(Q943* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 20
GPathogenic
MAPKBP1
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis 20
GPathogenic
MAPKBP1
(R544Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 20
GPathogenic
MAPKBP1
(R440* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 20
GPathogenic
MAPKBP1
(R1465* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 20
GPathogenic
MAPKBP1
(R198*)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis 20
GPathogenic
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