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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
ADAMTS20, ANO6
+113 more
Copy number loss
See cases
GPathogenic
SLC38A2
(I459V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(M448V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(I374V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(F345S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(V309I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC38A2
(D179Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(N278S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(H173Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(T165I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(T162S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC38A2
(E172D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(I68V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(I159V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SLC38A2
(N27S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(N27D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC38A2
(L103F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC38A2
(M75L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC38A2
(E65D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC38A2
(P31S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC38A2
(N23S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC38A2
(D16N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCD2, ADAMTS20
+34 more
Copy number gain
not specified
GPathogenic
AMIGO2, ANO6
+27 more
Copy number loss
not provided
GPathogenic
ABCD2, ADAMTS20
+72 more
Copy number gain
not specified
GPathogenic
PPHLN1, PRICKLE1
+66 more
Copy number gain
See cases
GLikely pathogenic
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ABCD2, ADAMTS20
+92 more
Copy number gain
See cases
GPathogenic
SCAF11, SLC38A1
+1 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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