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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ZNF562, ZNF699
+132 more
Duplication
Autism
GLikely pathogenic
NDUFA7, RPS28
Single nucleotide variant
(intron variant)
not provided
GBenign
RPS28, NDUFA7
Single nucleotide variant
(intron variant)
not provided
GBenign
RPS28
Single nucleotide variant
not provided
GBenign
RPS28
Single nucleotide variant
not provided
GBenign
RPS28
(M1V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
GPathogenic
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
(T3A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
GBenign
RPS28
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
GBenign
RPS28
Single nucleotide variant
(intron variant)
not provided
GBenign
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
(G53S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPS28
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RPS28
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KANK3, RPS28
(S797P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KANK3, RPS28
(E796K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDUFA7, RPS28
Duplication
not provided
GUncertain significance
ADAMTS10, ANGPTL4
+35 more
Duplication
Mucolipidosis type IV
GUncertain significance
ANGPTL4, CAMSAP3
+30 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 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
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