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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC129993982, LOC129993983
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
ADAMTS6, AK6
+139 more
Copy number gain
See cases
GLikely pathogenic
CWC27, LOC121725205
+5 more
Copy number gain
See cases
GUncertain significance
SHISAL2B
(A4D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SHISAL2B
(Y12C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(L14H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(C36R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(C36Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(L42I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(Y55C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(Y59H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(M60K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(S64R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(G70A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(A80S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(R99K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(A111D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(N127I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(A131T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(Y140C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHISAL2B
(I158T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS6, CD180
+16 more
Deletion
not provided
GUncertain significance
ADAMTS6, CENPK
+12 more
Deletion
not provided
GPathogenic
ADAMTS6, RGS7BP
+3 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ADAMTS6, CCDC125
+39 more
Copy number gain
See cases
GLikely pathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
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