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Items: 1 to 100 of 318

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
ACTL6B, AGFG2
+230 more
Copy number loss
Multiple congenital anomalies/dysmorphic syndrome
GPathogenic
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
AP4M1, ARPC1A
+125 more
Copy number gain
See cases
GLikely benign
ACHE, ACTL6B
+228 more
Copy number loss
See cases
GPathogenic
LOC129998866, LOC129998867
+2 more
Deletion
(genic upstream transcript variant)
Combined immunodeficiency
GPathogenic
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(C13W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(N17K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARPC1B
(K18Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARPC1B
(R20C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(R20H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(T21A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Deletion
(splice donor variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(splice donor variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
Single nucleotide variant
(splice donor variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ARPC1B
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ARPC1B
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GBenign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
(Q22H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(C26S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(V32M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(H33R)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARPC1B
(K37N)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(G39S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARPC1B
(V45M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(H46Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(E47K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ARPC1B
(V55M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GBenign
ARPC1B
Deletion
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARPC1B
(D59E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(W60*)
Single nucleotide variant
(nonsense)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(E63K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(S64G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(N65K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(R66C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(R66H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(I67T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(T72A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARPC1B
(Y77*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ARPC1B
(T80K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARPC1B
(T80M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Deletion
(inframe_indel)
not provided
GUncertain significance
ARPC1B
(R84C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
Deletion
(nonsense)
not provided
GPathogenic
ARPC1B
(T89M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(V91fs)
Duplication
(frameshift variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
(V91A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(I95M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(N96S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ARPC1B
(A99V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(R100H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(R103H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARPC1B
(W104S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ARPC1B
(A105S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(A105V)
Single nucleotide variant
(missense variant)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
GPathogenic
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(E108K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
(E108fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ARPC1B
(N109K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(G116S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARPC1B
(E128D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARPC1B
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARPC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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