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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INF2
(I685T)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+2 more
GUncertain significance
APOL1
(I400M +5 more)
Single nucleotide variant
(missense variant)
Hyalinosis, Segmental Glomerular
Grisk factor
PLCE1
(Q252H)
Single nucleotide variant
(missense variant)
Glomerulonephritis
GUncertain significance
NPHS1
(E782K)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(R1436H)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+2 more
GUncertain significance
COL4A4
(P416A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL4A4
(P263R)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+1 more
GConflicting classifications of pathogenicity
COL4A4
(G285E)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+1 more
GConflicting classifications of pathogenicity
COL4A4
(A880fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
+5 more
GPathogenic
MYH9
(A1729S)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+3 more
GConflicting classifications of pathogenicity
APOL1
(S358G +2 more)
Single nucleotide variant
(missense variant)
APOL1-associated kidney disease
+3 more
GConflicting classifications of pathogenicity; risk factor
CEL
(A656P)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
APOL1
(I400M +2 more)
Single nucleotide variant
(missense variant)
APOL1-associated kidney disease
+3 more
GConflicting classifications of pathogenicity; risk factor
APOL1
(I400M +5 more)
Single nucleotide variant
(missense variant)
Hyalinosis, Segmental Glomerular
Grisk factor
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