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Items: 1 to 100 of 122

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, 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
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
CFHR1, CFHR3
Copy number loss
See cases
GPathogenic
CFHR1, CFHR4
+2 more
Copy number loss
See cases
GBenign
CFHR1
Single nucleotide variant
not provided
GBenign
CFHR1
Single nucleotide variant
not provided
GBenign
CFHR1
Single nucleotide variant
not provided
GBenign
CFHR1
Deletion
(nonsense)
Age related macular degeneration 1
+2 more
GConflicting classifications of pathogenicity
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Insertion
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFHR1
(Q27* +1 more)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
CFHR1
(V28F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
CFHR1
(Y53S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CFHR1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
CFHR1
(T68A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CFHR1
(I53V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CFHR1
(T56A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
(C22fs +5 more)
Duplication
(frameshift variant +1 more)
not specified
GUncertain significance
CFHR1
(H104Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CFHR1
(V130L +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CFHR1
(R51W +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CFHR1
(T126A +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Insertion
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1, CFHR4
+2 more
Copy number gain
See cases
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CFHR1
(H101Y +7 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFHR1
(L103V +7 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFHR1
(E107Q +7 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR1, CFHR4
+2 more
Copy number loss
See cases
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
(D160N +7 more)
Single nucleotide variant
(missense variant)
Hemolytic uremic syndrome, atypical, susceptibility to, 1
GUncertain significance
CFHR1
(D137N +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFHR1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CFHR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFHR1
(Q161E +7 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CFHR1
(L243V +7 more)
Single nucleotide variant
(missense variant)
Chronic kidney disease
GUncertain significance
CFHR1
(W175R +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFHR1
(V267I +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR1
(R205Q +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CFHR1
(A198T +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFHR1
(L209S +7 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CFHR1
(A215V +7 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CFHR1
(E242K +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFHR1
(Y304C +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CFHR1
(R254C +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFHR1
(D238N +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR1
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
CFHR1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
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