U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 81

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
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
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
LOC130001371, LOC130001372
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001420, LOC130001421
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001415, LOC130001416
+1067 more
Copy number gain
See cases
GPathogenic
ANGPT1, EBAG9
+32 more
Copy number gain
See cases
GUncertain significance
EBAG9, ENY2
+15 more
Copy number gain
See cases
GLikely benign
LOC130000974, SYBU
(T500A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130000974, SYBU
(T632M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130000974, SYBU
(V492F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(L449P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYBU
(V435I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(G466R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(E404D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(P545Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(F369L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(A519V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(Q511H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(E382D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(S318R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(A335T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(G345R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(V329L +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SYBU
(V340M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(D313N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(P405A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(T399I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SYBU
(M213T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(R215Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(K216T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(R145H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(R160H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(E288V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(G124S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(R246C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(L201P +5 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SYBU
(G16V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(M164T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYBU
(Q127R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SYBU
(T111I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYBU
(G107A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYBU
(V90M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYBU
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SYBU
(P56R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYBU
(E48D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SYBU
(Q38R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+28 more
Copy number loss
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
AARD, ANGPT1
+35 more
Copy number gain
not provided
GPathogenic
SYBU
Copy number gain
not provided
GUncertain significance
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
ABRA, ANGPT1
+20 more
Copy number loss
not provided
GUncertain significance
DCAF13, CNGB3
+105 more
Copy number gain
not provided
GPathogenic
AARD, CCN3
+29 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
KCNQ3, KCNS2
+593 more
Copy number gain
See cases
GPathogenic
PPDPFL, PPP1R16A
+665 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
RRM2B, SLC30A8
+160 more
Copy number gain
See cases
GPathogenic
SLC45A4, SLC7A13
+189 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+228 more
Copy number gain
See cases
GPathogenic
CLDN23, LONRF1
+665 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination