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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
LOC129998072, LOC129998073
+331 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+248 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
LOC111365192, LOC111413014
+281 more
Copy number loss
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
CCDC126, IGF2BP3
+14 more
Copy number loss
See cases
GLikely benign
TRA2A
(R170Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA2A
(Y151C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA2A
(G160S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA2A
(G117V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA2A
(M146V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA2A
(R97Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(R94Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(R93W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(Y91H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(Y87C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(H78Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(H78L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(H76Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(R67H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(H45R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TRA2A
(R37H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
GPNMB, CCDC126
+12 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
TRA2A
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
NFE2L3, NOD1
+53 more
Deletion
Silver Russell Syndrome-related disorder
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+121 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ABCB5, ADCYAP1R1
+119 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AQP1
+68 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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