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Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
LOC129932244, LOC129932245
+1147 more
Copy number gain
See cases
GPathogenic
ASPM, ATP6V1G3
+173 more
Copy number loss
See cases
GPathogenic
ASPM, CFH
+36 more
Copy number loss
See cases
GPathogenic
CFH, CFHR3
+5 more
Copy number loss
See cases
GUncertain significance
CFH, CFHR1
+12 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
CFH, CFHR1
+4 more
Deletion
Atypical hemolytic-uremic syndrome with I factor anomaly
GPathogenic
CFH, CFHR4
+4 more
Copy number loss
Premature ovarian failure
GBenign
CFH, CFHR1
+1 more
Deletion
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GPathogenic
CFHR1, CFHR3
Deletion
Age-related macular degeneration
+1 more
GPathogenic; risk factor
CFHR1, CFHR3
Copy number loss
See cases
GBenign
CFHR1, CFHR3
Copy number gain
See cases
GBenign
CFHR1, CFHR3
+3 more
Copy number loss
See cases
GBenign
CFHR3
Single nucleotide variant
not provided
GBenign
CFHR3
Single nucleotide variant
not provided
GBenign
CFHR3
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFHR3
(I5T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR3
(G18A)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+1 more
GBenign
CFHR3
Single nucleotide variant
(intron variant)
CFHR3-related condition
GLikely benign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR1, CFHR3
Copy number gain
See cases
GLikely benign
CFHR1, CFHR3
Copy number loss
See cases
GLikely benign
CFHR1, CFHR3
Copy number loss
See cases
GBenign
CFHR1, CFHR3
+3 more
Copy number loss
See cases
GBenign
CFHR1, CFHR3
Copy number gain
See cases
GBenign
CFHR3
(F34C)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+3 more
GBenign/Likely benign
CFHR3
(E36*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
CFHR3
(R39C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR3
(R39H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR3
(Y53H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR3
(P79S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR3
(Y100C)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFHR3
Single nucleotide variant
(synonymous variant)
CFHR3-related condition
GLikely benign
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR3
(Y118*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CFHR3
(G119R)
Single nucleotide variant
(missense variant)
Kidney disorder
GUncertain significance
CFHR3
(G119A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CFHR3
(P138L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
(R142C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1, CFHR3
Copy number loss
See cases
GPathogenic
CFHR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CFHR3
Single nucleotide variant
(splice donor variant +1 more)
not provided
GConflicting classifications of pathogenicity
CFHR3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR3
Deletion
(intron variant)
not provided
GUncertain significance
CFHR3
(N218Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
(Q179H +1 more)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
+2 more
GBenign
CFHR3
(P180S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
CFHR3
(Y182D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR3
(S198L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
CFHR3
(H205Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFHR3
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR3
Microsatellite
(intron variant)
not provided
GLikely benign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR3
(C268F +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
GLikely benign
CFHR3
(I269V +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
+2 more
GLikely benign
CFHR3
(N213K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
(N217D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR3
(I219fs +1 more)
Deletion
(frameshift variant)
not provided
+3 more
GUncertain significance
CFHR3
(K220fs +1 more)
Deletion
(frameshift variant)
not specified
GUncertain significance
CFHR3
(K220Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CFHR3
(L221V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR3
(T297I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
(G244E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR3
(I251V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFHR3
(I251F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CFHR3
(V257fs +1 more)
Insertion
(frameshift variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CFHR3
(R320Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR3
(E269K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CFHR1, CFHR3
Copy number loss
not provided
GLikely benign
CFHR4, CFHR5
+11 more
Copy number loss
not provided
GUncertain significance
IGFN1, IKBKE
+211 more
Copy number gain
not provided
GPathogenic
CFHR3, CFHR4
+22 more
Copy number loss
not provided
GPathogenic
ASPM, ATP6V1G3
+28 more
Copy number loss
not provided
GLikely pathogenic
ACBD6, APOBEC4
+98 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+82 more
Copy number loss
not specified
GPathogenic
ASPM, CFH
+8 more
Duplication
not provided
GUncertain significance
KLHL12, LNCATV
+956 more
Duplication
Paragangliomas 3
+2 more
GUncertain significance
CSRP1, PPFIA4
+145 more
Copy number gain
not provided
Gnot provided
CFH, CFHR1
+5 more
Copy number gain
not provided
GUncertain significance
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
ASPM, ATP6V1G3
+18 more
Copy number loss
not provided
GUncertain significance
CAPN9, CATSPERE
+433 more
Copy number gain
not provided
GPathogenic
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