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Links from Gene

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARIN1B
(K177N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(A32V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GARIN1B
(T305M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(R189C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(R174T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(A162V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(G251W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(L112I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(N129S)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
GARIN1B
(G25V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(R61Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
AASS, AGBL3
+100 more
Copy number loss
not specified
GPathogenic
AHCYL2, ARF5
+26 more
Copy number loss
not provided
GPathogenic
GARIN1B
(D158N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GARIN1B
(G208R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(T325I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GARIN1B
(D186V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
CHCHD3, CHRM2
+88 more
Copy number loss
not specified
GPathogenic
BPGM, CALD1
+65 more
Copy number loss
not specified
GPathogenic
ZC3HC1, ZNF800
+55 more
Copy number loss
not specified
GPathogenic
PRRT4, PTPRZ1
+92 more
Copy number gain
not specified
GPathogenic
GARIN1A, GARIN1B
+3 more
Copy number gain
not provided
GUncertain significance
HILPDA, GARIN1B
+3 more
Copy number gain
not provided
GUncertain significance
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
GARIN1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GARIN1B
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, AHCYL2
+46 more
Copy number loss
not provided
GPathogenic
CALU, CCDC136
+7 more
Copy number gain
not provided
GUncertain significance
ABCB8, ABCF2
+229 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
COPG2, COPG2IT1
+342 more
Copy number loss
See cases
GPathogenic
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
IMPDH1, AHCYL2
+106 more
Copy number gain
See cases
GLikely benign
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129999356, LOC129999357
+284 more
Copy number loss
See cases
GPathogenic
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