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Links from MedGen

Items: 1 to 100 of 229

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1GALT1C1
(T89I)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GPathogenic
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+2 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)
Atypical hemolytic-uremic syndrome
+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)
Inborn genetic diseases
+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)
Atypical hemolytic-uremic syndrome
+4 more
GConflicting classifications of pathogenicity
CFH
Duplication
(intron variant)
Atypical hemolytic-uremic syndrome
+6 more
GBenign/Likely benign
C3
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome
+4 more
GConflicting classifications of pathogenicity
CFH
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+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)
not provided
+4 more
GUncertain significance
CFI
(I126T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
CFI
(I338M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CFI
(S113N)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+4 more
GUncertain significance
C3
(R1134Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CFI
(V336M +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome
+4 more
GUncertain significance
CFH
(A892V)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+5 more
GUncertain significance
CFH
Single nucleotide variant
(splice donor variant)
Atypical hemolytic-uremic syndrome
+1 more
GPathogenic/Likely pathogenic
CFH
Duplication
(intron variant)
not provided
+5 more
GBenign/Likely benign
CFH
Duplication
(intron variant)
Factor H deficiency
+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)
Atypical hemolytic-uremic syndrome
+4 more
GPathogenic/Likely pathogenic
C3
(L10M)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+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)
Atypical hemolytic-uremic syndrome with C3 anomaly
+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)
Angioedema, hereditary, 4
+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)
not provided
+4 more
GUncertain significance
C3
(K1450Q)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with C3 anomaly
+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 provided
+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
+1 more
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)
Atypical hemolytic-uremic syndrome
+2 more
GBenign
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+2 more
GConflicting classifications of pathogenicity
CD46, LOC129932405
(S13F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CFH
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome
+5 more
GConflicting classifications of pathogenicity
CFHR5
(N216Y)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+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)
not provided
+5 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)
not provided
+1 more
GBenign
CFHR5
(M514R)
Single nucleotide variant
(missense variant)
not specified
+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)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+3 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
(N711S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GConflicting classifications of pathogenicity
CFH
(R175P)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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