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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ID3
(P91L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID3
(R72C)
Single nucleotide variant
(missense variant)
Neoplasm
OUncertain significance
ID3
(S49T)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
ID3
(D43N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID3
(R26W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID3
(A25T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID3
(R8C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID3
(P6S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ASAP3, CNR2
+22 more
Deletion
Diamond-Blackfan anemia
GPathogenic
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
ASAP3, CNR2
+12 more
Copy number gain
not provided
GUncertain significance
E2F2, ELOA
+7 more
Copy number loss
Lamb-Shaffer syndrome
GPathogenic
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
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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