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Links from Gene

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WASHC2C
(S143L +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(Q48K +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(T320A +5 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(E108K +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(M193L +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(D393V +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(R127Q +5 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GLikely benign
WASHC2C
(A342V +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(P416A +8 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(R11H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(G795S +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(P719L +12 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(G278W +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(S31R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(M215V +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
WASHC2C
(K210R +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(D168V +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(T245I +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(V24M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(M2I +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(D197G +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(I101T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(V17L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(G793R +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
WASHC2C
(G805R +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(G368S +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
WASHC2C
(E1013K +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(F358L +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(P351L +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(K857T +12 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(K866Q +12 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(R815T +12 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(Q9P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(K675N +13 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(T841I +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WASHC2C
(V622I +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WASHC2C
(D718N +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WASHC2C
(L95V +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(K604E +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(R70W +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(K591R +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(G67E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(T551A +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(I61M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(T351M +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(L475P +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(K315N +8 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(Y250C +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(V231I +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
WASHC2C
(G333V +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(A355V +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(R3P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(S158N +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AGAP10, AGAP4
+9 more
Copy number loss
not provided
GUncertain significance
AGAP10, AGAP4
+7 more
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
WASHC2C
(A332V +22 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
WASHC2C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WASHC2C
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
WASHC2C
(A102T +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
WASHC2C
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
WASHC2C
(P116L +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(T798A +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
WASHC2C
(K527N +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(P605S +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(P127R +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(E270K +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(D269Y +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(T158I +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
AGAP10, AGAP4
+37 more
Copy number loss
See cases
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
WASHC2C
(K629T +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(R243H +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(A626P +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WASHC2C
(G137R +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WASHC2C
(I185T +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(S411L +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(V1013M +22 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(R103C +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AGAP4, AGAP6
+122 more
Deletion
10q11.22q11.23 deletion syndrome
GLikely pathogenic
WASHC2C
(M107I +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
WASHC2C
(H701Y +12 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(E26D +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
WASHC2C
(F168L +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WASHC2C
(E433K +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AGAP10, AGAP4
+37 more
Copy number loss
not provided
GLikely pathogenic
AGAP10, AGAP4
+35 more
Copy number loss
See cases
GPathogenic
WASHC2C
Copy number loss
not provided
GLikely benign
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
AGAP10, AGAP4
+37 more
Copy number gain
not provided
GUncertain significance
AGAP10, AGAP4
+37 more
Copy number loss
not provided
GPathogenic
NPY4R, OGDHL
+37 more
Copy number loss
not provided
GLikely pathogenic
AGAP10, AGAP4
+37 more
Copy number loss
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CCDC6, ZNF32
+75 more
Inversion
Pediatric metastatic thyroid tumour
GLikely pathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
MARCHF8, WASHC2C
+1 more
Copy number loss
See cases
GLikely benign
ALOX5, MARCHF8
+3 more
Copy number gain
See cases
GUncertain significance
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
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