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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
CLASRP
(P90T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CLASRP
(T93S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CLASRP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CLASRP
(P94R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CLASRP
(P95S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CLASRP
(E108K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R47W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(N60H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(G126S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(E68G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(A95T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLASRP
(V206M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(D242N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(K188N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R278Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLASRP
(R229H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R230Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(S307A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R314C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(T265M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(P294H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R312C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(S400F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(G343C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(A353T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R420G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
Microsatellite
(inframe_insertion +1 more)
not provided
GLikely benign
CLASRP
(W422C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(S365C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R430G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R378Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(S443A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(G382D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R455C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R397W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(G462D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R405C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R472C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(D415E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R416C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R478H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(Y417C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R419Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(G483S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(G421D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R422W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R422Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(L500F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R442C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R506C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R506H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R462L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(Q468R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(P472T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(P474L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(L479P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(A545P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R581K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(E610V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R561H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(R581Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLASRP
(H609Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APOC1, APOC2
+36 more
Copy number gain
not specified
GUncertain significance
OPA3, PPP1R37
+74 more
Copy number gain
not provided
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
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
APOC1, APOC2
+39 more
Copy number loss
See cases
GUncertain significance
NECTIN2, APOE
+24 more
Copy number gain
See cases
GUncertain significance
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
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