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Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
LOC130009419, LOC130009420
+567 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+116 more
Copy number gain
See cases
GPathogenic
LOC126861730, LOC126861731
+489 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009490, LOC130009491
+416 more
Copy number gain
See cases
GPathogenic
ATP12A, C1QTNF9
+181 more
Copy number loss
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+84 more
Copy number loss
See cases
GUncertain significance
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+79 more
Copy number loss
See cases
GPathogenic
SAP18, SKA3
+75 more
Copy number loss
See cases
GPathogenic
LOC130009329, LOC132090175
+32 more
Duplication
Autosomal recessive nonsyndromic hearing loss 1A
+3 more
GUncertain significance
CRYL1, EEF1AKMT1
+24 more
Copy number gain
See cases
GUncertain significance
CRYL1, EEF1AKMT1
+46 more
Copy number loss
See cases
GUncertain significance
XPO4
(G1032R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(T1010M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(T1010A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(D1111E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(F1078L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
XPO4
(T975S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
XPO4
(R947S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(D910Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(R896W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(V888L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(E850D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(T848N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(K846R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(V844F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(C723S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(Q697R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(V692I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(I687V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(I679T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(V617I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(S603C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(P559L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(N529D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(A520V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(E490D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(D445H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(T426I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(M397V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(S385N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(R384Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
XPO4
(C380G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(L375F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(F368L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(I344L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(V342M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(I331V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(Q316E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(A292V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(I248V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
XPO4
(D194Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(N175K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XPO4
(L116I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYL1, EEF1AKMT1
+16 more
Deletion
not provided
GPathogenic
CDX2, AMER2
+82 more
Copy number gain
not provided
GUncertain significance
CRYL1, EEF1AKMT1
+3 more
Copy number gain
not specified
GUncertain significance
LATS2, XPO4
Copy number gain
not provided
GUncertain significance
CRYL1, EEF1AKMT1
+18 more
Copy number loss
not provided
GPathogenic
CRYL1, EEF1AKMT1
+19 more
Copy number gain
not provided
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
LATS2, XPO4
Copy number gain
not provided
GUncertain significance
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+6 more
Deletion
Cataract 14 multiple types
GUncertain significance
IFT88, IL17D
+3 more
Copy number gain
not provided
GUncertain significance
GJB6, IL17D
+13 more
Copy number loss
not provided
GPathogenic
MPHOSPH8, FGF9
+27 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
AMER2, ATP12A
+40 more
Copy number gain
not provided
GPathogenic
CRYL1, EEF1AKMT1
+14 more
Copy number loss
not provided
GPathogenic
CRYL1, EEF1AKMT1
+19 more
Copy number loss
not provided
GPathogenic
CRYL1, EEF1AKMT1
+19 more
Copy number loss
not provided
GLikely pathogenic
NUDT15, NUFIP1
+211 more
Copy number gain
not provided
GPathogenic
ATP12A, C1QTNF9
+30 more
Copy number loss
not provided
GPathogenic
CRYL1, IFT88
+11 more
Copy number loss
not provided
GLikely pathogenic
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
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