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 173181

  • The following term was not found in ClinVar: Decenoic.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD11
(R180Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(R373C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(R372P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
Duplication
(splice donor variant)
not provided
GUncertain significance
SAMD11
(E221K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SAMD11
(H226Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SAMD11
Microsatellite
(intron variant +1 more)
not provided
GUncertain significance
SAMD11
(P228L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SAMD11
(D236N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SAMD11
(V404I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(A247T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(G251D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(G254V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(L255V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(R268G +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
(G278S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(A443G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(D675fs +2 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
NOC2L
(Y253S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(A252G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(R247H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(P241L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(S351N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(T364R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(T377M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(R378C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(R205C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(R239W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(V280D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGRN
(P7L)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(D312G +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(G318R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGRN
(G328R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGRN
(R346H +1 more)
Single nucleotide variant
(missense variant)
See cases
+2 more
GConflicting classifications of pathogenicity
AGRN
(G459S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGRN
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 8
+2 more
GConflicting classifications of pathogenicity
AGRN
(R555W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
AGRN
Duplication
(inframe_insertion)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Duplication
(inframe_insertion)
Congenital myasthenic syndrome 8
GUncertain significance
C1orf159
(K170R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(R7Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(R186H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(D189N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(V124I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(R200Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(R134Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(M281V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(R217C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(H295Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(E223K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(R224K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFRSF4
(R7Q)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to OX40 deficiency
GUncertain significance
TNFRSF4
(R7W)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to OX40 deficiency
+1 more
GUncertain significance
SDF4
(A348V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDF4
(T340A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDF4
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
B3GALT6
(L3V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
B3GALT6
Duplication
(inframe_insertion)
Spondyloepimetaphyseal dysplasia with joint laxity
+2 more
GUncertain significance
C1QTNF12
(T260M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2J2
(A257V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2J2
(G155R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2J2
(L145P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2J2
(G193R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2J2
(V137L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2J2
(D123H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCNN1D
(T191M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(S199L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(R221W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(F226S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(R238C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(R246C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCNN1D
(T250M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(S287L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(G300R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAP3
(D188N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(F184Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(N176S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PUSL1
(T279M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(E259D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(G276S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(G299V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(L279F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(L306P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS11
(R196H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INTS11
(R196C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DVL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DVL1
(T253M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DVL1
(S246F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DVL1
(T244I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DVL1
(S239T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DVL1
(A234V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MXRA8
(G373R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNL2
(R286Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(K148T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(F266L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNL2
(H39R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATAD3C
(R211W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(R211Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination