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Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+1209 more
Copy number gain
See cases
GPathogenic
LOC129992439, LOC129992440
+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
+1 more
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
(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
(M969V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
+1 more
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
GBenign
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
(H849R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
RFC1-related condition
+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 condition
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
(M724V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFC1
Single nucleotide variant
(synonymous variant)
RFC1-related condition
+1 more
GLikely benign
RFC1
(E665D +3 more)
Single nucleotide variant
(missense variant)
RFC1-related condition
+1 more
GBenign
RFC1
Single nucleotide variant
(synonymous variant)
RFC1-related condition
GBenign
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
(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)
RFC1-related condition
+1 more
GBenign
RFC1
(T546A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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
(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
(T351I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RFC1
(K320R +1 more)
Single nucleotide variant
(missense variant)
RFC1-related condition
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
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 condition
GBenign
RFC1
(R49H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
Single nucleotide variant
(intron variant)
RFC1-related condition
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
RFC1
(K28M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RFC1
(S18N)
Single nucleotide variant
(missense variant)
RFC1-related condition
+1 more
GBenign/Likely benign
RFC1
Single nucleotide variant
(intron variant)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
GBenign
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
KLB, LIAS
+6 more
Copy number gain
not provided
GUncertain significance
FAM114A1, KLB
+9 more
Duplication
not provided
GUncertain significance
KLB, LIAS
+3 more
Duplication
not provided
GUncertain significance
RFC1
Indel
Parkinson disease
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
FAM114A1, KLHL5
+6 more
Copy number gain
not specified
GUncertain significance
PDS5A, PHOX2B
+22 more
Duplication
Lipoic acid synthetase deficiency
GUncertain significance
KLB, LIAS
+3 more
Copy number gain
not provided
GUncertain significance
WDR19, UBE2K
+10 more
Copy number gain
not provided
GUncertain significance
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
WDR19, RFC1
Copy number loss
not provided
GUncertain significance
RFC1, KLHL5
+1 more
Copy number gain
not provided
GUncertain significance
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