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Items: 1 to 100 of 160471

  • The following terms were not found in ClinVar: Difluoro, methoxybenzylamine.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL17, LOC129929064
(E6Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(M278T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(C280G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(H294Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(E313D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(V326I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(R331H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(R336H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL17
(E338D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(P173R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(E177K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(A230T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(G194V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(R236W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(R197C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(H239P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHN1
(S200L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TTLL10
(C84R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(D92N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(D126E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(G144R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(G71W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(G146R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(H151Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(R154Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10
(P82L +1 more)
Single nucleotide variant
(missense variant)
not specified
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
(E330G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDF4
(N307S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDF4
(E184K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(I174V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(V170I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(E167K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(H165R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(G164D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(A161V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(Y155C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(V150L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(R140H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(R140C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(F139L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(E126K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(I111V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDF4
(R109Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GALT6
(R6Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
B3GALT6
(I76fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
GPathogenic
B3GALT6
(F186L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
+1 more
GPathogenic
B3GALT6
(R256W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
GPathogenic/Likely pathogenic
C1QTNF12
(R225Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1QTNF12
(D214A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3
(G155R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PUSL1
(F224S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(E225K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(S226N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(F229C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
INTS11
(V64A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TAS1R3
(D535N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D535H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R550Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R553C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R558G)
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
TAS1R3
(L571Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A585T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G604E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G615S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(S629G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(S629R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A655V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E661D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R677G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P679S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P704L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A733E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A807P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P812R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P826R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G835R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A837T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(Q838E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DVL1
(R592L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCNL2
Single nucleotide variant
(3 prime UTR variant +1 more)
CCNL2-related disorder
GBenign
CCNL2
(H129P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATAD3C
(P147R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(R154C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATAD3C
(A157T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(K164R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(R167W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(R167Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(G177R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(G180A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(G180V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3C
(G182R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3B
(V54M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3B
(R115S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3B
(E121K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATAD3B
(E76K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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