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Items: 23

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
A3GALT2, ADGRB2
+214 more
Copy number loss
See cases
GPathogenic
FABP3, LINC01778
+28 more
Copy number loss
See cases
GUncertain significance
ADGRB2, COL16A1
+78 more
Copy number gain
See cases
GUncertain significance
LOC129930033, LOC129930034
+117 more
Copy number gain
See cases
GPathogenic
ZCCHC17
(G4R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZCCHC17
(R5G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZCCHC17
(M9I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZCCHC17
(K78R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCCHC17
(V111F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC17
(N102S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC17
(R133Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZCCHC17
(P120S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FABP3, ZCCHC17
(K226Q +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR3, PTPRU
+66 more
Copy number gain
not specified
GUncertain significance
FABP3, SERINC2
+2 more
Copy number loss
not provided
GUncertain significance
TMEM54, RBBP4
+51 more
Copy number gain
not provided
GLikely pathogenic
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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