U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 620678

  • The following term was not found in ClinVar: Dimethyliodobenzene.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD11
(H89Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(R97Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NOC2L
(S100L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(Q92R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(Q88R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(R62G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(S170R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(D190G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(A213T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(V217L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(E228K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(D111N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(C115Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E118K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(S131W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(G213A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P212R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(Q178L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(A175G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P173L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P170R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P202S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(A168V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(A168P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(R199L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P217R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P155S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(P129A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(G119R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(C146G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(A144T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(V121M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HES4, LOC129929069
(E88D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ISG15
(S24L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ISG15
(I32N)
Single nucleotide variant
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
+1 more
GUncertain significance
ISG15
(H48Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ISG15
(G51C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ISG15
(Q55*)
Single nucleotide variant
(nonsense)
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
GPathogenic
ISG15
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ISG15
(S83N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ISG15
(R99W)
Inversion
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
GUncertain significance
ISG15
(R99Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ISG15
Single nucleotide variant
(3 prime UTR variant)
ISG15-related disorder
GLikely benign
AGRN
Deletion
(inframe_deletion)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Duplication
(inframe_insertion)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(Q61H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AGRN
(S194fs +1 more)
Microsatellite
(frameshift variant)
Congenital myasthenic syndrome 8
+1 more
GPathogenic/Likely pathogenic
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GBenign/Likely benign
AGRN
(V251A +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+3 more
GConflicting classifications of pathogenicity
AGRN
(Q216H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
(A375S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
AGRN
(R280C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
(R400W +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GConflicting classifications of pathogenicity
AGRN
(S302F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
(P465L +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GConflicting classifications of pathogenicity
AGRN
(G503S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
(P516L +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(R622Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGRN
(R555L +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(E665K +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
(Q747H +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GUncertain significance
AGRN
(T769M +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GConflicting classifications of pathogenicity
AGRN
(G864R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
(A897V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
AGRN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
AGRN
(G1065E +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(R1190S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
(D1229E +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(G1341R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
Microsatellite
(intron variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
(P1448L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGRN
(P1451L +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GLikely benign
AGRN
(E1547K +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+3 more
GConflicting classifications of pathogenicity
AGRN
(G1444R +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GUncertain significance
AGRN
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
(F1623L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
(R1699C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AGRN, LOC129929078
(R1734H +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 8
+1 more
GBenign/Likely benign
AGRN
(V1804M +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GLikely benign
AGRN
(H2025R +2 more)
Single nucleotide variant
(missense variant)
AGRN-related disorder
+4 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 8
+1 more
GBenign
TNFRSF18
(G254A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(S246C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(C233G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(C224R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(G222A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(R220C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(R202W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(A193V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(S186Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TNFRSF18
(P180L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination