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Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBA-LCR, LOC121530606
+14 more
Copy number gain
See cases
GBenign
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, AXIN1
+59 more
Copy number loss
See cases
GUncertain significance
ARHGDIG, AXIN1
+26 more
Copy number gain
See cases
GUncertain significance
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
NHLRC4, NME4
+119 more
Copy number loss
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
LOC121530606, LOC130058084
+7 more
Copy number loss
See cases
GUncertain significance
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
HBA-LCR, HBM
+13 more
Copy number gain
See cases
GUncertain significance
RHBDF1
(R828C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(L818P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R799W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(K794N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(L756I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RHBDF1
(G725R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(G703S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R691H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RHBDF1
(F644L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R612Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R612W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R597Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
RHBDF1
(E568Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(P567L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(P558L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(Q543R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(A538V)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(P535S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(P532S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(P529L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(E517Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(E516G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(D506E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(H498R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(E494Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(G462R)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(I461M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(V447I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(N444T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(K393E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(P370S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RHBDF1
(R339Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R308C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R265Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R239P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R238H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R235L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R235P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R234H)
Single nucleotide variant
(missense variant)
not provided
GBenign
RHBDF1
(R234C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(V228I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R226H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(A221V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(A218V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R217Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R208L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R204L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(F199Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R196C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(T183M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(V182I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(H179R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(A172V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(T171A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(E138K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RHBDF1
(N131S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(P127L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R122W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(L121I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RHBDF1
(R112C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R103C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(S95G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HBA-LCR, LOC121530606
+7 more
Copy number gain
See cases
GBenign
RHBDF1
(R82C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(Q74H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R73H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RHBDF1
(P69L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(R67Q)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(L66V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHBDF1
(H58Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
RHBDF1
(R43Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RHBDF1
(P35S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(D23A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDF1
(K16T)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
RHBDF1
(R14C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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