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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
ADGRB2, AHDC1
+348 more
Copy number gain
See cases
GPathogenic
LOC129929998, LOC129929999
+293 more
Copy number loss
See cases
GPathogenic
EPB41, LAPTM5
+73 more
Copy number gain
See cases
GUncertain significance
SRSF4
(P483R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(S456L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R441W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(A434V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(S431R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(K396E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R384Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R371H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(S334T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(E311K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(K297E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(G284R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(N282S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SRSF4
(G263D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SRSF4
(S247N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R241W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R239W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R235W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R227H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SRSF4
(G209D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R207Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R195C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R183Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRSF4
(R180G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR3, PTPRU
+66 more
Copy number gain
not specified
GUncertain significance
MECR, EPB41
+3 more
Copy number loss
not provided
GUncertain significance
MECR, PTPRU
+1 more
Copy number loss
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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