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Items: 17

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
RPS16
(R121H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPS16
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RPS16
(I67L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPS16
(R45C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPS16
(K17N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS16
(K4R)
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
TWIST1-related craniosynostosis
+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
DPF1, DYRK1B
+105 more
Copy number gain
See cases
GPathogenic
MED29, PAF1
+4 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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