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Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
C8orf88, CDH17
+72 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CPQ, DPY19L4
+139 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+98 more
Copy number loss
See cases
GPathogenic
RAD54B
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
RAD54B
(Q901E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(D880G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RAD54B
(M684V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(D850N +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RAD54B
(S664Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(V663I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RAD54B
(I662V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(G787D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(I594V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RAD54B
(H764Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(S752P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(I730F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(L543F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(F530C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(V703A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(I512V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RAD54B
(H499R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(R682H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(R498C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(E472K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(A468V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(L467S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(L644V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(E431D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(N593S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RAD54B
(F386I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(A332T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(F471fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(S255R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(D418Y +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RAD54B
(T333A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Deletion
(intron variant)
not provided
GBenign
RAD54B
(M128V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(G119E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(L292R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(V80F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RAD54B
(P231L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(F228Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RAD54B
(S218L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(L210P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(I13T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(I191L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(L184M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
RAD54B
Microsatellite
(intron variant)
not provided
GBenign
RAD54B
Duplication
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(K157N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RAD54B
(G151R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RAD54B
(W141R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RAD54B
(S119Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(T95A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(P91L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(P91S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Microsatellite
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
(L30V)
Single nucleotide variant
(missense variant)
not provided
GBenign
RAD54B
(P28L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(N27S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
(N27D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD54B
Single nucleotide variant
(intron variant)
not provided
GBenign
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ATP6V0D2, CA1
+53 more
Copy number loss
not provided
GPathogenic
CCNE2, CDH17
+15 more
Copy number gain
not provided
GUncertain significance
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
LINC02906, LRRC69
+36 more
Copy number loss
not provided
GPathogenic
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