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Links from Gene

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIMAP1C
(R273C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3B, C15orf39
+47 more
Deletion
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
CIMAP1C
(V195A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(M163L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CIMAP1C, LOC130057624
(A14E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(P139L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(R96Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(H81R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(A66T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(I59L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(M35K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C, COMMD4
+8 more
Copy number loss
not provided
GPathogenic
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
ADPGK, ARID3B
+48 more
Copy number loss
Chromosome 15q24 deletion syndrome
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
CIMAP1C
(R136H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(A226P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(R48Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(P156L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(T203M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CIMAP1C
(R224H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C, COMMD4
+8 more
Deletion
not provided
GUncertain significance
CIMAP1C
(Y126N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(Y67H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(D271N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(S262L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(V247M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(Q104K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(I272M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(Y212F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIMAP1C
(P253S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3B, C15orf39
+48 more
Copy number loss
not provided
GPathogenic
CSPG4, ODF3L1
Copy number gain
not provided
GUncertain significance
ARID3B, C15orf39
+34 more
Copy number loss
Hearing impairment
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
CIMAP1C, COMMD4
+8 more
Deletion
Epilepsy
+1 more
GPathogenic
TMEM266, CSPG4
+9 more
Copy number gain
not provided
GUncertain significance
SNX33, GOLGA6C
+11 more
Copy number gain
not provided
GUncertain significance
ARID3B, C15orf39
+34 more
Copy number loss
not provided
GPathogenic
COMMD4, CSPG4
+10 more
Copy number gain
not provided
GUncertain significance
ADPGK, ARID3B
+47 more
Copy number gain
not provided
GPathogenic
CSPG4, IMP3
+6 more
Copy number loss
not provided
GPathogenic
ADPGK, ARID3B
+48 more
Copy number loss
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
COMMD4, CSPG4
+8 more
Duplication
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
MIR6882, MPI
+258 more
Duplication
Schizophrenia
GLikely pathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADPGK, STOML1
+48 more
Copy number loss
not provided
Gnot provided
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
ARID3B, C15orf39
+49 more
Copy number gain
See cases
GUncertain significance
COMMD4, SNUPN
+10 more
Copy number gain
See cases
GUncertain significance
ADPGK, ARID3B
+47 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ACSBG1, ADPGK
+487 more
Copy number loss
See cases
GPathogenic
LOC130057567, LOC130057568
+243 more
Copy number loss
See cases
GPathogenic
CIMAP1C, CSPG4
+22 more
Copy number loss
See cases
GPathogenic
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