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Links from Gene

Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHCBP1L
(N204D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(S196P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(D243Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACBD6, AXDND1
+29 more
Deletion
not provided
GPathogenic
SHCBP1L
(I199T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(Y157H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(A131P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(S196F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(R113S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(Q77R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(S562N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(A528T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(C298S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(Y221H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
SHCBP1L
(A89del)
Microsatellite
(5 prime UTR variant +1 more)
not provided
GLikely benign
SHCBP1L
(V328A +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SHCBP1L
(S13L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(R63Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(G42V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(L307V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(M233T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(M117L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(T65A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
SHCBP1L
(N352S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(N552S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(N491D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(T521I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(N312D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(I383V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SHCBP1L
(V241A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(A278T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(S586N +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SHCBP1L
(A44E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(R15H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(T43I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(D147H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(A86V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(R314H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(H476R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(Y471H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(L514P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(V604I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SHCBP1L
(G309E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(V57L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(V370M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(N434H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(S49L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(F179L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(V47M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(T81K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(K33N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(Q291K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(R115K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SHCBP1L
(R197H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(D292A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SHCBP1L
(V51E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
ACBD6, APOBEC4
+48 more
Copy number loss
not provided
GPathogenic
APOBEC4, ARPC5
+23 more
Copy number gain
not specified
GUncertain significance
ACBD6, APOBEC4
+98 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+82 more
Copy number loss
not specified
GPathogenic
BRINP2, BRINP3
+101 more
Copy number loss
not specified
GPathogenic
ACBD6, AXDND1
+29 more
Duplication
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
GUncertain significance
ABL2, ACBD6
+56 more
Copy number loss
not provided
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
RGS8, RGSL1
+16 more
Copy number gain
not provided
GUncertain significance
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
DHX9, GLUL
+9 more
Copy number loss
not provided
GUncertain significance
ANKRD45, ASTN1
+61 more
Deletion
1q24q25 microdeletion syndrome
GPathogenic
ABL2, ACBD6
+71 more
Copy number gain
See cases
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
DENND1B, DHX9
+83 more
Copy number loss
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
ACBD6, APOBEC4
+30 more
Copy number loss
See cases
GPathogenic
COLGALT2, LAMC1
+35 more
Copy number loss
See cases
GPathogenic
SHCBP1L
(T294K +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
MIR488, MR1
+456 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
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