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Links from Gene

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCT6A
(V226F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(Q137R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(A83V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCT6A, LOC121175344
(M487T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(G386S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(A356G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(V346M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(L384V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A, CHCHD2
+12 more
Copy number gain
not provided
GUncertain significance
CCT6A
(K228N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A, LOC129998497
(A14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A, LOC121175344
(M487V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(S110C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A, LOC121175344
(P486T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(Y184H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(A452S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(E307D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(I229V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(T82A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCT6A
(I104K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(R172Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(S111F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCT6A
(E136K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(A423G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A
(H161D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6A, EGFR
+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
CCT6A, CHCHD2
+3 more
Duplication
Deficiency of phosphoserine phosphatase
GUncertain significance
CCT6A, CHCHD2
+3 more
Deletion
Deficiency of phosphoserine phosphatase
GUncertain significance
CCT6A, CHCHD2
+8 more
Copy number gain
not provided
GLikely benign
CCT6A, CHCHD2
+8 more
Copy number gain
not provided
GLikely benign
CCT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
CCT6A, CHCHD2
+17 more
Copy number loss
not provided
GUncertain significance
CCT6A, CHCHD2
+95 more
Duplication
Autism
GLikely pathogenic
PHKG1, PSPH
+8 more
Copy number gain
See cases
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
CCT6A, CHCHD2
+9 more
Copy number loss
See cases
GLikely benign
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
CCT6A, CHCHD2
+10 more
Copy number loss
See cases
GPathogenic
CCT6A, CHCHD2
+7 more
Copy number gain
See cases
GBenign
SUMF2, CCT6A
+7 more
Copy number loss
See cases
GUncertain significance
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
CCT6A, CHCHD2
+30 more
Copy number loss
See cases
GBenign
CCT6A, CHCHD2
+44 more
Copy number gain
See cases
GUncertain significance
ABCA13, ADCY1
+426 more
Copy number loss
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
CCT6A, CHCHD2
+30 more
Copy number loss
See cases
GUncertain significance
ASL, CCT6A
+229 more
Copy number gain
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
CCT6A, CHCHD2
+93 more
Copy number gain
See cases
GUncertain significance
CCT6A, CHCHD2
+107 more
Copy number gain
See cases
GUncertain significance
CCT6A, CHCHD2
+107 more
Copy number loss
See cases
GUncertain significance
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