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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
EMSY
Single nucleotide variant
(intron variant)
not provided
GBenign
EMSY
Single nucleotide variant
(intron variant)
not provided
GBenign
EMSY
(T60A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EMSY
(T271A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
(Q434K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
Single nucleotide variant
(intron variant)
EMSY-related disorder
GBenign
EMSY
Single nucleotide variant
(intron variant)
not provided
GBenign
EMSY
Single nucleotide variant
(intron variant)
EMSY-related disorder
GUncertain significance
EMSY
(Y716C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
(V739A +2 more)
Single nucleotide variant
(missense variant)
EMSY-related disorder
GLikely benign
EMSY
(L954R +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EMSY
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EMSY
(V1044L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
(Q1076K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
(P1214L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EMSY
Single nucleotide variant
(synonymous variant)
EMSY-related disorder
GBenign
EMSY
(Q1245R +2 more)
Single nucleotide variant
(missense variant)
EMSY-related disorder
GUncertain significance
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
EMSY, LRRC32
+1 more
Copy number loss
not provided
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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