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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
CKM, EML2
+69 more
Copy number gain
See cases
GUncertain significance
CALM3, CCDC61
+190 more
Copy number loss
See cases
GLikely pathogenic
EML2, EML2-AS1
+34 more
Copy number loss
See cases
GUncertain significance
PPM1N, RTN2
(R333fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 12
GUncertain significance
PPM1N
(A48G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R51C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPM1N
(R51H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R51P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(G57R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064703, PPM1N
(M79T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064703, PPM1N
(A82T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(P94L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPM1N
(L102F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(G106A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(S146T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R150H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(L168F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(V193M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R210L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(A213V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(G216R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R219H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(A253E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(E265K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R294L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(I322L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(A336T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(R338W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(C355Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(A358G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PPM1N
(C406Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(D427G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1N
(M428T)
Single nucleotide variant
(missense variant)
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
EML2, SNRPD2
+10 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
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