U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
LEUTX
(H32R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(V21I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LEUTX
(I24F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(R38W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(R74W +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LEUTX
(Q52P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(P92L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(I65L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(R101H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LEUTX
(D114G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(R86C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(A101V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LEUTX
(G119R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(I162R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(L171F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEUTX
(Q182H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ACP7, ACTN4
+53 more
Duplication
not provided
GUncertain significance
ACTMAP, AKT2
+84 more
Duplication
MEGF8-related Carpenter syndrome
+3 more
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
CLC, LEUTX
+1 more
Copy number loss
See cases
GUncertain significance
DPF1, DYRK1B
+105 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination