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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACYBP
(S137C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CACYBP
(L12F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
CACYBP, COP1
+5 more
Copy number loss
not specified
GUncertain significance
ABL2, ACBD6
+52 more
Copy number gain
not specified
GPathogenic
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
CACYBP
(L120P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CACYBP
(E184G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CACYBP
(P17R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CACYBP
(K128R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRINP2, BRINP3
+101 more
Copy number loss
not specified
GPathogenic
ANKRD45, C1orf105
+26 more
Copy number loss
not specified
GPathogenic
METTL13, MIR199A2
+68 more
Copy number loss
not specified
GPathogenic
ANKRD45, CACYBP
+88 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
ANKRD45, CENPL
+79 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ABL2, ACBD6
+52 more
Copy number gain
not provided
GPathogenic
CACYBP, TEX35
+13 more
Copy number loss
not provided
GUncertain significance
MRPS14, KIAA0040
+6 more
Copy number loss
not provided
GUncertain significance
CACYBP
Single nucleotide variant
(intron variant)
not provided
GBenign
CACYBP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
ABL2, ACBD6
+70 more
Copy number gain
not provided
GPathogenic
ANKRD45, ASTN1
+61 more
Deletion
1q24q25 microdeletion syndrome
GPathogenic
ANKRD45, ATP1B1
+51 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
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+46 more
Copy number loss
See cases
GPathogenic
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ANKRD45, ASTN1
+239 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
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