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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009567, LOC130009568
+1005 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
LOC130009611, LOC130009612
+938 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009942, LOC130009943
+733 more
Copy number loss
See cases
GPathogenic
ALG11, ARL11
+729 more
Copy number gain
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC130009879, LOC130009880
+657 more
Copy number loss
See cases
GPathogenic
ACOD1, ALG11
+530 more
Deletion
Chromosome 13q14 deletion syndrome
GPathogenic
OBI1-AS1, OLFM4
+513 more
Copy number loss
See cases
GPathogenic
ACOD1, ATXN8OS
+258 more
Copy number loss
See cases
GPathogenic
ACOD1, ATXN8OS
+202 more
Copy number loss
See cases
GPathogenic
ATXN8OS, BORA
+70 more
Copy number gain
See cases
GPathogenic
ACOD1, ATXN8OS
+232 more
Copy number loss
See cases
GPathogenic
ACOD1, BORA
+141 more
Copy number loss
See cases
GPathogenic
KLF12, LINC00392
+2 more
Copy number gain
See cases
GLikely benign
KLF12
(D332G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF12, LOC126861799
(R294H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF12, LOC126861799
(S289P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF12, LOC126861799
(R286W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF12
Copy number loss
See cases
GUncertain significance
KLF12
(T219S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(N228S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(G230S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(P166R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(V123I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(S121T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(A105V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(R122C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(S119F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(E64K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF12
(Q40H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF12
(R30I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF12
(N18S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ACOD1, ATXN8OS
+49 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+81 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+102 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+78 more
Copy number loss
not provided
GPathogenic
BORA, COMMD6
+12 more
Copy number loss
not provided
GUncertain significance
KLF12
Copy number gain
not provided
GUncertain significance
GPR18, GRTP1
+121 more
Copy number gain
not provided
GPathogenic
TBC1D4, TEX29
+129 more
Copy number gain
not provided
GPathogenic
ACOD1, CLN5
+12 more
Copy number loss
not provided
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
KLF12
Copy number gain
not specified
GUncertain significance
KLF12, KLF5
+1 more
Copy number loss
not specified
GUncertain significance
ATXN8OS, BORA
+9 more
Copy number loss
not specified
GUncertain significance
ACOD1, ATXN8OS
+29 more
Copy number loss
not specified
GPathogenic
ACOD1, ADPRHL1
+129 more
Copy number gain
not specified
GPathogenic
KLHL1, LPAR6
+120 more
Copy number loss
not specified
GPathogenic
SPART, SPRYD7
+147 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
GTF2F2, PRR20D
+175 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ACOD1, ATXN8OS
+35 more
Copy number loss
not provided
GPathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
KLF5, LINC00402
+27 more
Copy number loss
not provided
GPathogenic
CDC16, NALCN
+142 more
Copy number loss
not provided
GPathogenic
DIS3, KLF5
+62 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
KLF12
Copy number gain
Aortic valve disease 1
GUncertain significance
LMO7, LMO7DN
+31 more
Copy number loss
See cases
GPathogenic
ABCC4, ACOD1
+60 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+137 more
Copy number gain
See cases
GPathogenic
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+125 more
Copy number gain
See cases
GPathogenic
MIR4500HG, MIR92A1
+102 more
Copy number loss
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
LOC100288208, MYCBP2
+25 more
Copy number loss
See cases
GPathogenic
ACOD1, BORA
+27 more
Copy number loss
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
KLF12, ZNF462
Translocation
not provided
GPathogenic
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