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Items: 1 to 100 of 190

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2048 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+2049 more
Copy number gain
See cases
GPathogenic
LOC126861801, LOC126861802
+2047 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2044 more
Copy number gain
See cases
GPathogenic
LOC126861839, LOC126861840
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2040 more
Copy number gain
See cases
GPathogenic
LOC124849292, LOC124849293
+2028 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2021 more
Copy number gain
See cases
GPathogenic
LOC130009743, LOC130009744
+2024 more
Copy number gain
See cases
GPathogenic
LOC130009548, LOC130009549
+2024 more
Copy number gain
See cases
GPathogenic
LOC130010180, LOC130010181
+1557 more
Copy number gain
See cases
GPathogenic
LINC00392, LINC00393
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009962, LOC130009963
+1288 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1268 more
Copy number gain
See cases
GPathogenic
MCF2L-AS1, METTL21C
+706 more
Copy number gain
See cases
GPathogenic
LOC130009994, LOC130009995
+705 more
Copy number gain
See cases
GPathogenic
LOC130010070, LOC130010071
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
LOC130010106, LOC130010107
+638 more
Copy number gain
See cases
GPathogenic
FGF14-IT1, FKSG29
+369 more
Copy number gain
See cases
GPathogenic
LOC110008580, LOC110120930
+544 more
Copy number gain
See cases
GPathogenic
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+339 more
Copy number loss
See cases
GPathogenic
ABHD13, ARGLU1
+152 more
Copy number gain
See cases
GUncertain significance
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
LINC02337, LINC03032
+332 more
Copy number loss
See cases
GPathogenic
LINC03082, LOC100506016
+325 more
Copy number gain
See cases
GUncertain significance
ABHD13, ADPRHL1
+321 more
Copy number loss
See cases
GPathogenic
LOC126861846, LOC126861847
+90 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+318 more
Copy number loss
See cases
GPathogenic
LOC130010152, LOC130010153
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
ABHD13, ADPRHL1
+302 more
Copy number loss
See cases
GPathogenic
ABHD13, ANKRD10
+156 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+271 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+261 more
Deletion
Factor X deficiency
+1 more
GPathogenic
COL4A1, COL4A2
+27 more
Duplication
not specified
GUncertain significance
IRS2
(H1328R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRS2
(G1312S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(P1309S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(G1263V)
Single nucleotide variant
(missense variant)
not provided
GBenign
IRS2
(Q1224H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(P1222L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRS2
(G1217D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
IRS2-related condition
GBenign
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRS2
(G1189S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(A1175V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(T1151I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(S1109R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(P1091Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(Y1072H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(G1057D)
Single nucleotide variant
(missense variant)
IRS2-related condition
GBenign
IRS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
IRS2
(P1033A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS2
(P1021R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRS2
(G882A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
IRS2
(G879S)
Single nucleotide variant
(missense variant)
IRS2-related condition
+1 more
GBenign/Likely benign
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRS2
Single nucleotide variant
(synonymous variant)
IRS2-related condition
GBenign
IRS2
(S820N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
IRS2
Single nucleotide variant
(synonymous variant)
IRS2-related condition
GBenign
IRS2
(P794S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(L788V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRS2
(A786E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(S785F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
IRS2-related condition
GBenign
IRS2
(S735G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(S731L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
IRS2-related condition
GBenign
IRS2
Microsatellite
(inframe_insertion)
not provided
GLikely benign
IRS2
(A701del)
Microsatellite
(inframe deletion)
IRS2-related condition
GBenign
IRS2
(A663G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS2
(L647V)
Single nucleotide variant
(missense variant)
DIABETES, TYPE II, SUSCEPTIBILITY TO
Grisk factor
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS2
(A624G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRS2
(A512T)
Single nucleotide variant
(missense variant)
not provided
GBenign
IRS2
(G508S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
Single nucleotide variant
(synonymous variant)
IRS2-related condition
GLikely benign
IRS2
(G478S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(P470L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(P463S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(S447F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRS2
(M431I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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