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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
PDS5B, PDX1
+566 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
ALOX5AP, AMER2
+488 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
USPL1, WASF3
+415 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
LOC130009528, LOC130009529
+620 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+202 more
Copy number loss
See cases
GPathogenic
ALG5, ALOX5AP
+210 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+117 more
Copy number loss
See cases
GPathogenic
ALOX5AP, B3GLCT
+50 more
Copy number loss
Diaphragmatic hernia
GUncertain significance
ALG5, ALOX5AP
+213 more
Copy number loss
See cases
GPathogenic
ACOD1, AKAP11
+1004 more
Copy number gain
See cases
GPathogenic
ALOX5AP, HMGB1
+29 more
Copy number loss
See cases
GUncertain significance
AKAP11, ALG11
+780 more
Copy number loss
See cases
GPathogenic
ALOX5AP
Single nucleotide variant
(intron variant)
ALOX5AP-related condition
GLikely benign
ALOX5AP
Single nucleotide variant
(synonymous variant +1 more)
ALOX5AP-related condition
GLikely benign
ALOX5AP
Single nucleotide variant
(synonymous variant)
ALOX5AP-related condition
GLikely benign
ALOX5AP, LOC126861725
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALOX5AP, LOC126861725
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ALOX5AP, LOC126861725
(T55I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX5AP
(A69S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX5AP
(R94S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX5AP
Single nucleotide variant
(intron variant)
not provided
Gnot provided
ALOX5AP
(P110R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX5AP
(I175V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX5AP
(I147V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOX5AP, AMER2
+82 more
Copy number gain
not provided
GUncertain significance
ALOX5AP, B3GLCT
+12 more
Copy number gain
not provided
GUncertain significance
ALOX5AP, B3GLCT
+13 more
Duplication
not provided
GUncertain significance
ALOX5AP, MEDAG
Copy number gain
not provided
GUncertain significance
CCDC169-SOHLH2, CCDC70
+332 more
Copy number gain
not provided
GPathogenic
PCID2, PCOTH
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABCC4, DNAJC15
+332 more
Copy number gain
not specified
GPathogenic
ZMYM5, SPATA13
+329 more
Copy number gain
not specified
GPathogenic
ARGLU1, FBXL3
+332 more
Copy number gain
not provided
GPathogenic
MRPL57, MRPS31
+332 more
Copy number gain
See cases
GPathogenic
ALOX5AP, FLT1
+11 more
Copy number loss
13q12.2q12.3 deletion
GLikely pathogenic
ALOX5AP, B3GLCT
+22 more
Copy number loss
not provided
GPathogenic
DGKH, DHRS12
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
AKAP11, ALG11
+211 more
Copy number gain
not provided
GPathogenic
PARP4, PCOTH
+56 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
HTR2A, IFT88
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
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