U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

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
SLC30A2
(G320D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC30A2
(R340G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(L285P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(A281T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(Q315H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(W260C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC30A2
(L257P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(V285I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(A219T +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
SLC30A2
(V217L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(G206S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
Single nucleotide variant
(synonymous variant)
SLC30A2-related disorder
GLikely benign
SLC30A2
(G144R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(I142M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(T128fs +1 more)
Deletion
(frameshift variant)
Zinc deficiency, transient neonatal
GLikely pathogenic
SLC30A2
(L94V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC30A2
(G87R)
Single nucleotide variant
(missense variant)
Zinc deficiency, transient neonatal
GPathogenic
SLC30A2
(R72H)
Single nucleotide variant
(missense variant)
Zinc deficiency, transient neonatal
GUncertain significance
SLC30A2
(H54R)
Single nucleotide variant
(missense variant)
Zinc deficiency, transient neonatal
GPathogenic
SLC30A2
(S49N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(I43V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(G27E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(E26K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
(L23P)
Single nucleotide variant
(missense variant)
SLC30A2-related disorder
GBenign
SLC30A2
(K4R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC30A2
Single nucleotide variant
(5 prime UTR variant)
SLC30A2-related disorder
GLikely benign
ARID1A, AUNIP
+33 more
Duplication
Retinitis pigmentosa 59
GUncertain significance
ARID1A, CATSPER4
+18 more
Copy number gain
not provided
GUncertain significance
AUNIP, CATSPER4
+22 more
Deletion
Hypercholesterolemia, familial, 4
GPathogenic
NKAIN1, PLA2G2E
+783 more
Copy number gain
Global developmental delay
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination