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Items: 47

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
TSKU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TSKU
(V11M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(V11L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(I51F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(P67L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(P95R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(T84M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A117V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A103D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(R108H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(S112L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A136T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(E126K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(D135N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(R158W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(T153M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(H161P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(V162L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TSKU
(H166P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(R171H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(T177M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A197V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(V199M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A224V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A224D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(E258Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TSKU
(A260V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(R265C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(A270V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(S287L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(L291V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(L300F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(V320L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(R328T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(V335L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TSKU
(R343W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSKU
(S359P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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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