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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
+1 more
(K124E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
+1 more
(E108A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
+1 more
(S104R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
(R95K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP3-ACAD11, NPHP3-AS1
+2 more
(E92D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
Deletion
(non-coding transcript variant +1 more)
NPHP3-related condition
+2 more
GPathogenic/Likely pathogenic
LOC129937586, NPHP3
+2 more
(A88S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
(P82Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC129937586, NPHP3
+2 more
(G78V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Meckel-Gruber syndrome
+5 more
GUncertain significance
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP3-ACAD11, NPHP3-AS1
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
+2 more
(A53del)
Microsatellite
(non-coding transcript variant +1 more)
not provided
+4 more
GUncertain significance
NPHP3-ACAD11, NPHP3-AS1
+2 more
(A53G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
+2 more
(A52T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Kidney disorder
+6 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
(A51L)
Indel
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
NPHP3-ACAD11, NPHP3-AS1
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Kidney disorder
+6 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
(E29D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC129937586, NPHP3
+2 more
(A22V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3-ACAD11, NPHP3-AS1
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Kidney disorder
+5 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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