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Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+295 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+280 more
Copy number loss
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAM19
(M913T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(K901E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R893Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAM19
(R893W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R883W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(L882M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R870C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P863L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R856Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P855S)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ADAM19
(R854G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADAM19
(P839S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R838Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P834A)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADAM19
(T828M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(G822A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(A814T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAM19
(A805T)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADAM19
(P803L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R792Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R792W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R784Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(T779I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R774Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(H760L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(S736P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(V716I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(V713M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P694S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADAM19
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM19
(G653A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R606W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(N588S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R583Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(M567R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(K564M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(M558I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(L539F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P505L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(N497D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(Q464H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAM19
(P452L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R417Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
Single nucleotide variant
(intron variant)
Lung adenocarcinoma
GUncertain significance
ADAM19
(A365G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(C361R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(V339M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(A336V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P315R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P315S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(G308S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(S305F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(M304V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAM19
(H265R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(A241V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(K234R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(S208F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(T183I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(H178Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(F176L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(C174Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(P171L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAM19
(E150K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(T140K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(T118M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R107Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(R107W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(Q103E)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADAM19
Single nucleotide variant
(intron variant)
Squamous cell carcinoma
GUncertain significance
ADAM19
Single nucleotide variant
(intron variant)
Squamous cell carcinoma
GUncertain significance
ADAM19
Single nucleotide variant
(intron variant)
Lung adenocarcinoma
GUncertain significance
ADAM19
(R68G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(L63F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADAM19
Single nucleotide variant
(intron variant)
Lung adenocarcinoma
GUncertain significance
ADAM19
(H43R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19
(K40R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19, LOC129995137
(R23Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM19, LOC129995137
(A8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTTG1, UBLCP1
+29 more
Copy number loss
not provided
GLikely pathogenic
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, CYFIP2
+6 more
Copy number gain
not provided
GUncertain significance
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ADAM19, ADRA1B
+33 more
Copy number loss
not provided
Gnot provided
ADAM19, ADRA1B
+51 more
Copy number loss
not provided
GPathogenic
C5orf52, ADAM19
+51 more
Copy number gain
not provided
GPathogenic
LSM11, C5orf52
+4 more
Copy number gain
not provided
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+50 more
Copy number loss
See cases
GPathogenic
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