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Items: 1 to 100 of 62298

  • The following term was not found in ClinVar: Dragnev.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD11
(E316K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(E343K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(E221K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SAMD11
(Q374K +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC129929063, SAMD11
(K542E +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
(K753R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(E679K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(K662E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(K649R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(K325E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(E192K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(K162Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOC2L
(K144N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(Q46K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(E63K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(E228K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(K264N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E42K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E118K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E177K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E255K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E329K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E303K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E380K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E400K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHN1
(E573K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGRN
(N229K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGRN
(E444K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGRN
(E472K +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(E657K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGRN
(N832K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGRN
(E1086K +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(E1101K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGRN
(E1479K +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
(T1710K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGRN
(E1876K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RNF223
(E169K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF223
(E138K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf159
(K170R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf159
(E78K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf159
(E29K +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
TTLL10
(E258K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(K453E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(K468Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(E667K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFRSF18
(E69K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNFRSF4
(K120E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(E184K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(E167K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(E126K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GALT6
(K135R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
B3GALT6
(R324K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1QTNF12
(K166R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1QTNF12
(E123K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1QTNF12
(E52K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCNN1D
(T92K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(E118K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCNN1D
(R372K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC110599576, SCNN1D
(E583K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC110599576, SCNN1D
(K625R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC110599576, SCNN1D
(E788K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAP3
(K537Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(Q502K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(E333K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(E113K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(E21K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PUSL1
(N150K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(E225K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS11
(K510R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INTS11
(E270K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INTS11
(K274E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPTP
(E26K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPTP
(E86K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPTP
(E130K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(N85K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(N207K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E217K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E356K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R479K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R558K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E566K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DVL1
(K565R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DVL1
(Q554K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DVL1
Deletion
(intron variant)
DVL1-related disorder
GUncertain significance
DVL1
(T137K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MXRA8
(Q332K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MXRA8
(K162E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AURKAIP1
(K179N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNL2
(K366R +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
MRPL20
(R144K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MRPL20
(N89K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA1
(G25E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA1
(L43I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA1
(E187K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(K23E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(K164R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(K219E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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