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Items: 1 to 100 of 340

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+228 more
Copy number loss
See cases
GPathogenic
LOC130000591, LOC130000592
+470 more
Copy number gain
See cases
GPathogenic
ARFGEF1, ARFGEF1-DT
+245 more
Copy number gain
See cases
GPathogenic
C8orf34, EYA1
+53 more
Copy number loss
See cases
GPathogenic
EYA1, LACTB2
+49 more
Copy number loss
See cases
GPathogenic
EYA1, LACTB2
+49 more
Copy number loss
See cases
GPathogenic
SULF1
(K2R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(S4F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
(G19E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(L21H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SULF1
(S23*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
SULF1
(S23L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
(R26G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(S27F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(R38Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
(R42Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(D51N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SULF1
(Q61K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SULF1
(M1I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(T66M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
(A75fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
(A75T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(N17D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SULF1
(R29Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SULF1
(M94L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
(M94I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
(N102H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(N104S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
(E48K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SULF1
(C50Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(P115A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SULF1
(E122*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
SULF1
(R124W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(R124Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(T133A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SULF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SULF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
(E84G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(Y89C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SULF1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
SULF1
(P153H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(P153L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(P154A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
(R157Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(R157P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(I163M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(R105H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SULF1
(R175C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(R175H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
(G177S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SULF1
(H182R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(D123H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
(I10L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(A187T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SULF1
Deletion
(intron variant)
not provided
GLikely benign
SULF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SULF1
(E136K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(I138S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(M143T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(P211S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(R151G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
SULF1
(P214L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SULF1
(V153L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SULF1
(M217I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SULF1
(A222T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SULF1
(A161V +2 more)
Single nucleotide variant
(missense variant +2 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
SULF1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
SULF1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
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