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Items: 1 to 100 of 44105

  • The following terms were not found in ClinVar: Dimethoxy, moxifloxacin.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN
(R234L +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(P340R +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(R247W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGRN
(G371D +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(R400W +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AGRN
Duplication
(inframe_insertion)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(G636S +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(P702L +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(A756T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
AGRN
(R1233W +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GUncertain significance
AGRN
(V1374L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGRN, LOC129929078
(V1727F +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GLikely pathogenic
AGRN
(Y1776D +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
B3GALT6
(F186L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
+1 more
GPathogenic
INTS11
(A140T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTS11
(P8L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCNL2
(P202R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(T189I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(R313W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(A310V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(E84A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(E168V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(A8P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATAD3B
(R227H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3B
(I275V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3B
(P300S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNB1
(I80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral palsy
+7 more
GPathogenic/Likely pathogenic
GNB1
(K78R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
GNB1
(D76G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
GABRD
(R220H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PRKCZ
(S35C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SKI
(R648G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PRDM16
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PRDM16
(A259V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PRDM16
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PRDM16
(G278S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRDM16
(M289T)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
PRDM16
(P291L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
PRDM16
(S295N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(R442Q)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
PRDM16
(P476S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+2 more
GBenign/Likely benign
PRDM16
(R525Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PRDM16
(D628N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+2 more
GConflicting classifications of pathogenicity
PRDM16
(G817S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRDM16
(G836S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+2 more
GBenign/Likely benign
PRDM16
(D985N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PRDM16
(V1101M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+2 more
GBenign
PRDM16
Deletion
(inframe_deletion)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
NPHP4
(R658* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
GPathogenic
ESPN
(S342F)
Single nucleotide variant
(missense variant)
Usher syndrome, type 1M
+2 more
GUncertain significance
PLEKHG5
(T663M +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PLEKHG5
(H364Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(I324T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLEKHG5
(R321W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PLEKHG5
(R352K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
Deletion
(inframe_indel +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+2 more
GUncertain significance
PLEKHG5
(D366G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(D295V +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+2 more
GUncertain significance
PLEKHG5
(D332H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(P289S +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease recessive intermediate C
+3 more
GUncertain significance
PLEKHG5
(G353R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(G284R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLEKHG5
(G275S +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+2 more
GUncertain significance
PLEKHG5
(Q272K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(V336A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+2 more
GConflicting classifications of pathogenicity
PLEKHG5
(F253L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(D240G +3 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+3 more
GConflicting classifications of pathogenicity
PLEKHG5
(T291M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PLEKHG5
(E219K +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLEKHG5
(A213V +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+2 more
GUncertain significance
PLEKHG5
(R202L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLEKHG5
(R271H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PLEKHG5
(R184H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEKHG5
Microsatellite
(inframe_insertion +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GUncertain significance
LOC126805598, PLEKHG5
(R45H +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal recessive 4
+1 more
GUncertain significance
PLEKHG5
Single nucleotide variant
(5 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
CAMTA1
(Y267fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TNFRSF9
(S211F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TNFRSF9
(T195M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TNFRSF9
(I8T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
Microsatellite
(inframe_insertion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GPathogenic
H6PD
(R453Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PIK3CD
(M815L +2 more)
Single nucleotide variant
(missense variant)
PIK3CD-related disorder
+2 more
GUncertain significance
MASP2
(D120G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
LOC114827827, NPPA
+1 more
(S64R)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 6
+3 more
GBenign/Likely benign
LOC114827827, NPPA
(T8I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLOD1
(R46H +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, kyphoscoliotic type 1
+2 more
GConflicting classifications of pathogenicity
PLOD1
Duplication
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPathogenic
MFN2
(R94W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+21 more
GPathogenic
MFN2
(F216S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
MFN2
(R250Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+5 more
GConflicting classifications of pathogenicity
MFN2
(R259C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GPathogenic/Likely pathogenic
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