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Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
ANKRD45, ASTN1
+239 more
Copy number loss
See cases
GPathogenic
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
KLHL20, LOC129388638
+84 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
ANKRD45, CENPL
+79 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
ANKRD45, CACYBP
+88 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
CENPL, DARS2
+39 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
DARS2, GAS5
+43 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
LOC126805922, LOC126805923
+20 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
GAS5, GAS5-AS1
+17 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
ZBTB37
(N64S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(E65G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(K117R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(V131M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(S139C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(T156R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(R161G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(S179G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(A180T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(R213Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(Q219R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(E236G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(Q259R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(A296P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(A296G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(K297N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(R300Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB37
(V315L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB37
(P335S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122149309, LOC126805923
+21 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
LOC126805923, SERPINC1
+1 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
LOC126805923, ZBTB37
+1 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
LOC122149309, LOC126805923
+21 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
LOC122149309, LOC126805923
+21 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
ZBTB37
(R365Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB37
(I376V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB37
(A379T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB37
(S381T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB37
(R404L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB37
(Q446R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122149309, LOC126805923
+12 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
LOC126805923, LOC126805924
+3 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
RC3H1, SERPINC1
+1 more
Deletion
Hereditary antithrombin deficiency
GPathogenic
ZBTB37
Single nucleotide variant
(3 prime UTR variant)
Cholesteatoma
GUncertain significance
ZBTB37
Single nucleotide variant
(3 prime UTR variant)
Cholesteatoma
GLikely benign
ANKRD45, C1orf105
+22 more
Duplication
not provided
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
SERPINC1, ZBTB37
Copy number loss
not specified
GPathogenic
CENPL, DARS2
+5 more
Copy number gain
not specified
GUncertain significance
ABL2, ACBD6
+52 more
Copy number gain
not specified
GPathogenic
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
DARS2, GAS5
+7 more
Copy number gain
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, C1orf105
+22 more
Duplication
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
GAS5, KLHL20
+22 more
Deletion
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ABL2, ACBD6
+52 more
Copy number gain
not provided
GPathogenic
CENPL, DARS2
+5 more
Copy number gain
not provided
GUncertain significance
METTL13, METTL18
+60 more
Copy number loss
not provided
GPathogenic
GAS5, RC3H1
+8 more
Deletion
Growth abnormality
GUncertain significance
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
CENPL, DARS2
+5 more
Copy number gain
Premature ovarian failure
GUncertain significance
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