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Links from MedGen

Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REG1A
(T27R)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
CFH
(P258L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLCE1
Single nucleotide variant
(5 prime UTR variant)
Focal segmental glomerulosclerosis
GUncertain significance
SMARCAL1
(A118G)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GConflicting classifications of pathogenicity
PDSS2
(P11S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
CD2AP
(E143D)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
CD2AP
(E143G)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
SDCCAG8
(S166fs +1 more)
Duplication
(5 prime UTR variant +1 more)
Focal segmental glomerulosclerosis
GLikely pathogenic
AXDND1, NPHS2
(P248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Focal segmental glomerulosclerosis
GUncertain significance
CD2AP
(A491T)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
KIRREL2, NPHS1
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis
GUncertain significance
ACTN4
Single nucleotide variant
(intron variant)
ACTN4-related condition
+1 more
GConflicting classifications of pathogenicity
NPHS1
(P1061S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
TRPC6
(D890H)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
ACTN4
(F153L)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
NPHS1
Single nucleotide variant
(synonymous variant)
NPHS1-related condition
+2 more
GConflicting classifications of pathogenicity
NPHS1
(K848T)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GUncertain significance
ACTN4
Single nucleotide variant
(intron variant)
Focal segmental glomerulosclerosis
GUncertain significance
CD2AP
Single nucleotide variant
(synonymous variant)
CD2AP-related condition
+1 more
GLikely benign
SMARCAL1
(L322H)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GConflicting classifications of pathogenicity
LAMB2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis
+3 more
GConflicting classifications of pathogenicity
ACTN4
(R410Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GLikely benign
KIRREL2, NPHS1
(T6R)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
NPHS1
(P838S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
TRPC6
(V126F)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
LAMB2
(Y272C)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
LAMB2
(C386R)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
ACTN4
(A772V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TRPC6
(Q386*)
Single nucleotide variant
(nonsense)
Focal segmental glomerulosclerosis
GUncertain significance
NPHS1
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis
GUncertain significance
PLCE1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRPC6
(R399Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GLikely benign
TRPC6
(K803R)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
TRPC6
(W783fs)
Duplication
(frameshift variant)
Focal segmental glomerulosclerosis
GLikely pathogenic
NPHS1
(C1080S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
INF2
(A203T)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 5
+1 more
GUncertain significance
TRPC6
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 2
+2 more
GBenign/Likely benign
NPHS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
INF2
Single nucleotide variant
(synonymous variant)
INF2-related condition
+3 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
Pierson syndrome
+2 more
GConflicting classifications of pathogenicity
ACTN4
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 1
+2 more
GConflicting classifications of pathogenicity
NPHS1
(R864H)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+3 more
GUncertain significance
LMX1B
(V389M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTN4
(G19C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TRIM8
(Y455* +1 more)
Single nucleotide variant
(nonsense +1 more)
Focal segmental glomerulosclerosis
+2 more
GLikely pathogenic
TRIM8
(Q382* +1 more)
Single nucleotide variant
(nonsense +1 more)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
GPathogenic
MYO9A
(T389M)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
MYO9A
(E765D)
Single nucleotide variant
(missense variant)
MYO9A-related condition
GUncertain significance
MYO9A
(D156G)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
PAX2
(T123M +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GLikely pathogenic
PAX2
(G116V +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GLikely pathogenic
INF2
(V181G)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GPathogenic
COL4A4
(M138fs)
Duplication
(frameshift variant)
Focal segmental glomerulosclerosis
GLikely pathogenic
NPHS1
(G867D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ARHGAP24
(E170A +3 more)
Single nucleotide variant
(intron variant +1 more)
Focal segmental glomerulosclerosis
GUncertain significance
PLCE1
(G1183S +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
INF2
(E955Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 5
+2 more
GUncertain significance
PLCE1, NOC3L
(D1906N +2 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
INF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TRIM8
(Q413*)
Single nucleotide variant
(nonsense +1 more)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
+3 more
GPathogenic/Likely pathogenic
TRIM8
(Q379*)
Single nucleotide variant
(nonsense +1 more)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
+3 more
GPathogenic/Likely pathogenic
TRIM8
(F356fs +1 more)
Deletion
(frameshift variant +1 more)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
+3 more
GPathogenic/Likely pathogenic
TRIM8
(Y428*)
Single nucleotide variant
(nonsense +1 more)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
+3 more
GPathogenic/Likely pathogenic
SDCCAG8
(A35fs)
Deletion
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+3 more
GConflicting classifications of pathogenicity
ACTN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ACTN4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
INF2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 5
+3 more
GBenign/Likely benign
ACTN4
(Q392E)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GConflicting classifications of pathogenicity
APOL1
(I400M +5 more)
Single nucleotide variant
(missense variant)
Hyalinosis, Segmental Glomerular
Grisk factor
MYO9A
(P1704S)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, congenital, 24, presynaptic
GUncertain significance
ACTN4
(G889S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COQ8B
(R139C +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
TRIM8
(Q391* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
COL4A4
(P1235fs)
Deletion
(frameshift variant)
Benign familial hematuria
+3 more
GPathogenic/Likely pathogenic
MYH9
(E1453G)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GUncertain significance
LAMB2
(H1383Q)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+2 more
GUncertain significance
COL4A5
(N607fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NUP93
(K514E +1 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GLikely pathogenic
TRPC6
(D890N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCAL1
Single nucleotide variant
(synonymous variant)
Schimke immuno-osseous dysplasia
+1 more
GConflicting classifications of pathogenicity
PLCE1
(S1000N +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 3
+4 more
GConflicting classifications of pathogenicity
NPHS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis
+1 more
GConflicting classifications of pathogenicity
TRPC6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
NPHS1
(R268Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
NPHS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPHS1
(P1200S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDSS2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis
+1 more
GConflicting classifications of pathogenicity
NPHS1
(E1044K)
Single nucleotide variant
(missense variant)
NPHS1-related condition
+4 more
GConflicting classifications of pathogenicity
NPHS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NPHS1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ACTN4
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis 1
+2 more
GBenign/Likely benign
INF2
Single nucleotide variant
(synonymous variant)
Focal segmental glomerulosclerosis
+2 more
GLikely benign
PLCE1, PLCE1-AS1
(Q1660fs +2 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
WT1
(R177C +8 more)
Single nucleotide variant
(missense variant +2 more)
Frasier syndrome
+5 more
GUncertain significance
ACTN4
(A427T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
WT1
(R246Q +10 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 4
+8 more
GConflicting classifications of pathogenicity
NPHS2
(E237Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ACTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
TRIM8
(Q459* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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