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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR19
Single nucleotide variant
(splice acceptor variant)
Renal dysplasia and retinal aplasia
+2 more
GPathogenic
CEP290
(R1237fs)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+5 more
GPathogenic/Likely pathogenic
SDCCAG8
(Q474* +3 more)
Single nucleotide variant
(nonsense)
Renal dysplasia and retinal aplasia
GPathogenic
IQCB1
(M237fs +1 more)
Duplication
(frameshift variant +1 more)
Renal dysplasia and retinal aplasia
GPathogenic
IQCB1
(R455* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
TTC21B
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
IQCB1
Single nucleotide variant
Renal dysplasia and retinal aplasia
GUncertain significance
IQCB1
Deletion
(5 prime UTR variant +1 more)
Renal dysplasia and retinal aplasia
GUncertain significance
IQCB1
Deletion
(5 prime UTR variant +1 more)
Renal dysplasia and retinal aplasia
GBenign
IQCB1
Duplication
(intron variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP1
Microsatellite
(3 prime UTR variant)
Renal dysplasia and retinal aplasia
+2 more
GUncertain significance
CEP290
Deletion
(intron variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
CEP290
Duplication
(intron variant)
Meckel-Gruber syndrome
+5 more
GConflicting classifications of pathogenicity
CEP290
Duplication
(intron variant)
Meckel-Gruber syndrome
+7 more
GConflicting classifications of pathogenicity
CEP290
Duplication
(splice donor variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
CEP290
Deletion
(intron variant)
Meckel-Gruber syndrome
+5 more
GConflicting classifications of pathogenicity
CEP290
Deletion
(intron variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
CEP290, RLIG1
Microsatellite
(3 prime UTR variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
NPHP4
Single nucleotide variant
Renal dysplasia and retinal aplasia
+1 more
GUncertain significance
NPHP4
Single nucleotide variant
Renal dysplasia and retinal aplasia
+1 more
GUncertain significance
NPHP4
Single nucleotide variant
Renal dysplasia and retinal aplasia
+1 more
GUncertain significance
NPHP4
Single nucleotide variant
Renal dysplasia and retinal aplasia
+1 more
GUncertain significance
AKT3, SDCCAG8
Duplication
(3 prime UTR variant +1 more)
Renal dysplasia and retinal aplasia
+2 more
GConflicting classifications of pathogenicity
AKT3, SDCCAG8
Single nucleotide variant
(3 prime UTR variant +1 more)
Renal dysplasia and retinal aplasia
+1 more
GUncertain significance
AKT3, SDCCAG8
Duplication
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
AKT3, SDCCAG8
Duplication
(3 prime UTR variant +1 more)
Renal dysplasia and retinal aplasia
+2 more
GConflicting classifications of pathogenicity
CEP290, RLIG1
Deletion
(3 prime UTR variant)
not provided
+6 more
GBenign/Likely benign
NPHP4
Deletion
(intron variant)
Renal dysplasia and retinal aplasia
+4 more
GBenign/Likely benign
CEP290
Microsatellite
(intron variant)
Renal dysplasia and retinal aplasia
+7 more
GConflicting classifications of pathogenicity
NPHP1
Microsatellite
(inframe_insertion)
Nephronophthisis
+6 more
GUncertain significance
CEP290
Insertion
(intron variant)
Nephronophthisis
+11 more
GBenign
CEP290
Duplication
(intron variant)
Nephronophthisis
+11 more
GBenign
CEP290
Deletion
(intron variant)
not specified
+11 more
GBenign
TTC21B, TTC21B-AS1
(P209L)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+8 more
GPathogenic/Likely pathogenic
WDR19
(L710S +1 more)
Single nucleotide variant
(missense variant)
Renal dysplasia and retinal aplasia
+5 more
GPathogenic
IQCB1
(R461* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
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