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Links from MedGen

Items: 1 to 100 of 229

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1GALT1C1
(T54I +1 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GPathogenic
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
TMEM67-related disorder
+3 more
GConflicting classifications of pathogenicity
DGKE
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFHR2
(T71M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
THBD
(P353T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
(V405E)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
C3
(F830del)
Microsatellite
(inframe_deletion)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFH
(C16fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CFH
(L697F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CD46, LOC129932405
(L28fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CFHR5
(V369G)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFHR4
(Y42F +1 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely benign
C3
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
C3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFI
(I227T +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFI
Deletion
(intron variant)
Atypical hemolytic-uremic syndrome
GLikely benign
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFB
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
DGKE
(N403del)
Microsatellite
(inframe_deletion)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFHR5
(L422V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely benign
CFHR2
(Y140C +2 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely benign
C3
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFI
(L4H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CFHR2
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome
GBenign
CFHR2
(C72Y)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
GBenign
CFHR5
(G228A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PLA2R1
(M292V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GBenign
PLA2R1
(H300D)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GBenign
PLA2R1
(G1106S)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GBenign
THBD
(A188G)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
C3
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFHR5
(S215P)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely benign
CFH
(R1215L)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CD46
(C64F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+2 more
GUncertain significance
C3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFH
Duplication
(intron variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
C3
Single nucleotide variant
(intron variant)
Complement component 3 deficiency
+4 more
GConflicting classifications of pathogenicity
CFH
Single nucleotide variant
(synonymous variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
CFB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFI
(Y65H)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome
+4 more
GUncertain significance
CFI
(I126T)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
CFI
(I338M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CFI
(S113N)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+4 more
GUncertain significance
C3
(R1134Q)
Single nucleotide variant
(missense variant)
Complement component 3 deficiency
+4 more
GUncertain significance
CFI
(V336M +4 more)
Single nucleotide variant
(missense variant +1 more)
Factor I deficiency
+4 more
GUncertain significance
CFH
(A892V)
Single nucleotide variant
(missense variant)
Basal laminar drusen
+5 more
GUncertain significance
CFH
Single nucleotide variant
(splice donor variant)
Atypical hemolytic-uremic syndrome
+1 more
GPathogenic/Likely pathogenic
CFH
Duplication
(intron variant)
Age related macular degeneration 4
+5 more
GBenign/Likely benign
CFH
Duplication
(intron variant)
not specified
+6 more
GBenign
CFH
(Q1076E)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+5 more
GUncertain significance
CFI
Single nucleotide variant
(splice donor variant)
Factor I deficiency
+4 more
GPathogenic/Likely pathogenic
C3
(L10M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C3
(V560M)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
C3
(R881H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(splice acceptor variant)
Atypical hemolytic-uremic syndrome
GPathogenic
C3
(A667T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
C3
(I1157T)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GPathogenic
SMARCAL1
(F731fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
SMARCAL1
(R659C)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GUncertain significance
PLG
(G579R)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+3 more
GUncertain significance
CFI
(T98A)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFI
(A220E +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFHR5
Duplication
Atypical hemolytic-uremic syndrome
GPathogenic
CFHR5
(D236G)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFH
(S1133*)
Single nucleotide variant
(nonsense)
Atypical hemolytic-uremic syndrome
GPathogenic
CFH
(T1216K)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFI
(R133* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CFH
(V609I)
Single nucleotide variant
(missense variant)
Factor H deficiency
+4 more
GUncertain significance
C3
(K1450Q)
Single nucleotide variant
(missense variant)
Age related macular degeneration 9
+3 more
GUncertain significance
DGKE
(M1L)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CFH
(Y1177F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFH
(W525*)
Single nucleotide variant
(nonsense)
Atypical hemolytic-uremic syndrome
GPathogenic
CFH
(N1178Y)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFH
(R1182K)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFH
(C691R)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CFH
(R1182S)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CFH
Single nucleotide variant
(splice donor variant)
Atypical hemolytic-uremic syndrome
GPathogenic
ADAMTS13
(R629Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADAMTS13
(A420T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
THBD
(D126Y)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
THBD
(A255P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(Y189D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(M24V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Indel
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
CD46-related disorder
+3 more
GBenign
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+2 more
GConflicting classifications of pathogenicity
CD46, LOC129932405
(S13F)
Single nucleotide variant
(missense variant)
CD46-related disorder
+3 more
GBenign
CFH
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome
+4 more
GConflicting classifications of pathogenicity
CFHR5
(N216Y)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
+2 more
GUncertain significance
C3
(L9P)
Single nucleotide variant
(missense variant)
Complement component 3 deficiency
+4 more
GConflicting classifications of pathogenicity
CFB
(M458I)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with B factor anomaly
+4 more
GUncertain significance
CFHR4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CFHR5
(P46S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
CFHR3
(G18A)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+1 more
GBenign
CFHR5
(M514R)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+3 more
GConflicting classifications of pathogenicity
CFI
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome
+2 more
GBenign/Likely benign
C3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
(N711S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atypical hemolytic-uremic syndrome
+4 more
GConflicting classifications of pathogenicity
CFH
(R175P)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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