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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
LOC130059883, LOC130059884
+922 more
Copy number gain
See cases
GPathogenic
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ACADVL, ACAP1
+461 more
Copy number gain
See cases
GPathogenic
SPEM3, TEKT1
+229 more
Copy number loss
See cases
GPathogenic
ACADVL, ACAP1
+182 more
Copy number gain
See cases
GLikely pathogenic
ALOX12B, ALOX15B
+191 more
Copy number loss
See cases
GPathogenic
ATP1B2, CD68
+36 more
Copy number gain
See cases
GUncertain significance
EIF4A1, LOC130060162
+1 more
(S4R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EIF4A1, LOC130060162
+1 more
(S7F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EIF4A1, SENP3-EIF4A1
(N12S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EIF4A1, SENP3-EIF4A1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
EIF4A1, SENP3-EIF4A1
(V105I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EIF4A1, SENP3-EIF4A1
(R247C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EIF4A1, SENP3-EIF4A1
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
EIF4A1, SENP3-EIF4A1
(R311*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autism spectrum disorder
GUncertain significance
ABR, ACADVL
+209 more
Duplication
not provided
GUncertain significance
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
ACADVL, ACAP1
+48 more
Copy number loss
not provided
GPathogenic
ACADVL, ACAP1
+40 more
Deletion
Common variable immunodeficiency
GUncertain significance
ALOX15B, ACADVL
+66 more
Deletion
Li-Fraumeni syndrome
GPathogenic
NEURL4, NLGN2
+69 more
Deletion
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, ACAP1
+62 more
Duplication
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ALOX12B, ALOX15B
+37 more
Copy number gain
not provided
GUncertain significance
ACAP1, ALOX12B
+65 more
Copy number loss
not specified
GPathogenic
ACADVL, ACAP1
+64 more
Copy number loss
not specified
GPathogenic
FXR2, CD68
+14 more
Copy number gain
not provided
GUncertain significance
TMEM102, TNFSF12
+74 more
Copy number gain
not provided
GPathogenic
KCNAB3, KCTD11
+81 more
Duplication
Dyskeratosis congenita
+1 more
GUncertain significance
TNFSF12-TNFSF13, ZBTB4
+12 more
Copy number loss
not provided
GUncertain significance
ABR, ACADVL
+240 more
Copy number gain
not provided
GPathogenic
ACADVL, ACAP1
+75 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABR, ACADVL
+250 more
Copy number gain
See cases
GPathogenic
ALOX12B, ALOX15B
+61 more
Copy number gain
See cases
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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