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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARPC1B
(S364L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARPC1B
Single nucleotide variant
(synonymous variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
+1 more
GLikely benign
ARPC1B
(A238V)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
+1 more
GUncertain significance
ARPC1B
(V329I)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GPathogenic
ARPC1B
(C162G)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
+1 more
GUncertain significance
ARPC1B
(R103H)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
+1 more
GUncertain significance
ARPC1B
Single nucleotide variant
(splice acceptor variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GLikely pathogenic
ARPC1B
(E363fs)
Duplication
(frameshift variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
Single nucleotide variant
(splice donor variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
(C209fs)
Deletion
(frameshift variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
(F164fs)
Indel
(frameshift variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
(L247fs)
Deletion
(frameshift variant)
Combined immunodeficiency
+1 more
GPathogenic
LOC129998866, LOC129998867
+2 more
Deletion
(genic upstream transcript variant)
Combined immunodeficiency
GPathogenic
ARPC1B
(D255fs)
Deletion
(frameshift variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
(S311C)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
+1 more
GUncertain significance
ARPC1B
Single nucleotide variant
(splice donor variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
+1 more
GPathogenic
ARPC1B
(A105V)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
(V91fs)
Duplication
(frameshift variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
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