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Items: 1 to 100 of 244

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
PIK3C2B, PKP1
+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
CFHR5
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
CFHR5
Deletion
(genic upstream transcript variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
CFHR5
Deletion
(5 prime UTR variant)
Mesangiocapillary glomerulonephritis, type II
GUncertain significance
CFHR5
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
CFHR5
(M1V)
Single nucleotide variant
(missense variant +1 more)
CFHR5 deficiency
GUncertain significance
CFHR5
(F5Y)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
GUncertain significance
CFHR5
(E19fs)
Duplication
(frameshift variant)
CFHR5 deficiency
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
GUncertain significance
CFHR5
Single nucleotide variant
(intron variant)
CFHR5 deficiency
+1 more
GBenign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Duplication
(splice acceptor variant +1 more)
C3 glomerulonephritis
GPathogenic
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFHR5
(T21fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CFHR5
(T21I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(D24A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(F25Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(P26S)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
GUncertain significance
CFHR5
(H30Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(D38Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(Y39H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(N40K)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
GUncertain significance
CFHR5
(P41R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFHR5
(P46S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
CFHR5
(P62fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(V60L)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+1 more
GUncertain significance
CFHR5
(R69C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(R69H)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
+2 more
GUncertain significance
CFHR5
(E75G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(S78P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CFHR5
(P81L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CFHR5
Single nucleotide variant
(synonymous variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+2 more
GBenign/Likely benign
CFHR5
(C83S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(R85G)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
GUncertain significance
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Duplication
(splice acceptor variant)
not provided
GConflicting classifications of pathogenicity
CFHR5
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CFHR5
Single nucleotide variant
(intron variant)
CFHR5 deficiency
+4 more
GBenign/Likely benign
CFHR5
(M86I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
Insertion
(inframe_insertion)
not provided
GUncertain significance
CFHR5
(G95S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR5
(L105R)
Single nucleotide variant
(missense variant)
Variant of unknown significance
GUncertain significance
CFHR5
(V110A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
CFHR5
Single nucleotide variant
(synonymous variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+2 more
GBenign/Likely benign
CFHR5
(Q111*)
Single nucleotide variant
(nonsense)
CFHR5 deficiency
GUncertain significance
CFHR5
(N126H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(I127V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CFHR5
(C129R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR5
(R132W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFHR5
(R132Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(C140F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(T143P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
CFHR5
Single nucleotide variant
(intron variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
GUncertain significance
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
Single nucleotide variant
(intron variant)
not provided
GBenign
CFHR5
(K144R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFHR5
(K144N)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+2 more
GConflicting classifications of pathogenicity
CFHR5
(G145E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
CFHR5
(E146G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CFHR5
(Q159E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFHR5
(E163fs)
Duplication
not specified
+3 more
GConflicting classifications of pathogenicity
CFHR5
(E163fs)
Duplication
(frameshift variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CFHR5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CFHR5
(S164N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(Y165L)
Indel
(missense variant)
not provided
GUncertain significance
CFHR5
Single nucleotide variant
(synonymous variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+3 more
GBenign/Likely benign
CFHR5
(V170M)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+2 more
GConflicting classifications of pathogenicity
CFHR5
(N178S)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
+2 more
GBenign/Likely benign
CFHR5
(I180V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFHR5
(I180T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(S186*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CFHR5
(F192L)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+1 more
GUncertain significance
CFHR5
(S195T)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
+1 more
GUncertain significance
CFHR5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFHR5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
Single nucleotide variant
(intron variant)
CFHR5 deficiency
+1 more
GUncertain significance
CFHR5
(R206Q)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
GUncertain significance
CFHR5
(C208R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFHR5
(G209D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFHR5
(S215P)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
GLikely benign
CFHR5
(N216Y)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+2 more
GUncertain significance
CFHR5
(N216F)
Inversion
(missense variant)
CFHR5 deficiency
+1 more
GUncertain significance
CFHR5
(N216I)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+2 more
GUncertain significance
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