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Links from Gene

Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PXDC1
(G33S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(E191D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(R84W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BPHL, C6orf201
+25 more
Copy number loss
not specified
GPathogenic
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
BPHL, C6orf201
+140 more
Inversion
Anophthalmia-microphthalmia syndrome
GLikely pathogenic
BPHL, EXOC2
+19 more
Copy number loss
not provided
GPathogenic
PXDC1
(R75W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(T109M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(H192R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(V88I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(S147N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(P146L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(S120L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(E44Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PXDC1
(D188V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
BPHL, EXOC2
+20 more
Copy number loss
not specified
GPathogenic
BPHL, DUSP22
+21 more
Copy number gain
not provided
GPathogenic
PXDC1, SLC22A23
Copy number gain
not provided
GUncertain significance
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BMP6
+38 more
Copy number gain
not provided
GLikely pathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, BLOC1S5
+66 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+24 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+33 more
Copy number loss
See cases
GPathogenic
PXDC1, RIPK1
+24 more
Copy number loss
See cases
GPathogenic
PXDC1
Copy number gain
See cases
GLikely benign
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+60 more
Copy number loss
See cases
GPathogenic
PPP1R3G, BPHL
+33 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+611 more
Copy number loss
See cases
GPathogenic
LINC01622, LINC02521
+558 more
Copy number gain
See cases
GLikely pathogenic
HCG26, HCG27
+2581 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+256 more
Copy number gain
See cases
GUncertain significance
LOC129995709, LOC129995710
+642 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+313 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+256 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+346 more
Copy number loss
See cases
GPathogenic
LOC129995671, LOC129995672
+509 more
Copy number gain
See cases
GLikely pathogenic
ADTRP, ATXN1
+778 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+308 more
Copy number loss
See cases
GPathogenic
LINC01600, LINC01622
+308 more
Copy number gain
See cases
GLikely pathogenic
BPHL, C6orf201
+288 more
Copy number loss
See cases
GPathogenic
LOC129995581, LOC129995582
+436 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+572 more
Copy number gain
See cases
GPathogenic
LOC643327, PRPF4B
+31 more
Copy number gain
See cases
GUncertain significance
BLOC1S5, BLOC1S5-TXNDC5
+432 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+301 more
Copy number loss
See cases
GPathogenic
LOC129389424, LOC129389425
+311 more
Copy number loss
See cases
GPathogenic
KU-MEL-3, LINC01011
+302 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+259 more
Copy number loss
See cases
GPathogenic
LOC126859578, LOC126859579
+536 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+280 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+824 more
Copy number gain
See cases
GPathogenic
LOC129995556, LOC129995570
+306 more
Copy number loss
See cases
GPathogenic
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