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Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
KLB, LIAS
+9 more
Copy number gain
See cases
GBenign
RFC1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
RFC1
(P1128S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RFC1
(A1086P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(S1092L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(S1042N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(V996A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(G988R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(V1007L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(L979F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(S974A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(M969V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(A953V +3 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GUncertain significance
RFC1
(R948H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(Q954K +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RFC1
(M926L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(intron variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
+1 more
GBenign
RFC1
(L906F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(R899W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(splice donor variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic
RFC1
(I879V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(H849R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(L872P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
+1 more
GBenign
RFC1
Single nucleotide variant
(splice donor variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic
RFC1
Single nucleotide variant
(synonymous variant)
RFC1-related disorder
GBenign
RFC1
(A834G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(A807P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(W820C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(V787I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(P796H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(I795F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(I786T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(H739P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(I733V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(M724V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RFC1
(T686M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(splice acceptor variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GLikely pathogenic
RFC1
(E665D +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RFC1
Single nucleotide variant
(synonymous variant)
RFC1-related disorder
GBenign
RFC1
(S684G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(Y645N +3 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
RFC1
(G643R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(C638F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(V654I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(A647V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(G636S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(G633D +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(E598K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(D578N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(Q575R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(I572V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RFC1
(T546A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(A400V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RFC1
(E393fs +1 more)
Deletion
(frameshift variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GLikely pathogenic
RFC1
(I385V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(K392E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(E363D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(R388* +1 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic
RFC1
(R357* +1 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic/Likely pathogenic
RFC1
(R350C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(S359N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(T351I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RFC1
(K320R +1 more)
Single nucleotide variant
(missense variant)
RFC1-related disorder
GBenign
RFC1
(A311P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(V254A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RFC1
(T250M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(A247V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(R227S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RFC1
(A213V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(A204T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(N192fs)
Deletion
(frameshift variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic
RFC1
(I158V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(K143E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(N133S)
Single nucleotide variant
(missense variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GUncertain significance
RFC1
(M117V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RFC1
(D111V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(intron variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
+1 more
GBenign
RFC1
(Q101R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(Q101E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(R100Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(K94R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(P85S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(Q78R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(intron variant)
RFC1-related disorder
GBenign
RFC1
(R49H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(intron variant)
RFC1-related disorder
GLikely benign
RFC1
Microsatellite
Parkinson disease, late-onset
GPathogenic
RFC1
Microsatellite
(intron variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GBenign
RFC1
Microsatellite
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic
RFC1
Indel
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GPathogenic
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