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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
CALM3, CCDC61
+190 more
Copy number loss
See cases
GLikely pathogenic
CALM3, DACT3
+46 more
Copy number gain
See cases
GUncertain significance
CALM3, DACT3
+46 more
Copy number gain
See cases
GUncertain significance
AP2S1, ARHGAP35
+123 more
Copy number loss
See cases
GPathogenic
LOC130064822, LOC130064823
+290 more
Copy number gain
See cases
GPathogenic
DACT3, DACT3-AS1
(L79R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3, DACT3-AS1
(G53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3, DACT3-AS1
(M52T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3, DACT3-AS1
(H31R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3, DACT3-AS1
+1 more
(A4G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
(R717H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
(R717C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
(P862S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
(S675G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
(H673Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DACT3-AS1, PRKD2
(N628S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DACT3-AS1, PRKD2
(I624T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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