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Links from Gene

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX21
(A273T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(G102A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(S52A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(T50R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(P269S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(P244L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(G221E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(S186W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(I182L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
ABCC4, ACOD1
+81 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+102 more
Copy number loss
not specified
GPathogenic
PCCA, POGLUT2
+50 more
Copy number loss
not provided
GPathogenic
ANKRD10, ANKRD10-IT1
+98 more
Copy number loss
not provided
GPathogenic
ABCC4, ACOD1
+78 more
Copy number loss
not provided
GPathogenic
GPR18, GRTP1
+121 more
Copy number gain
not provided
GPathogenic
TBC1D4, TEX29
+129 more
Copy number gain
not provided
GPathogenic
SOX21
(P229S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(A204D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(P134S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC4, CLDN10
+7 more
Duplication
not provided
GUncertain significance
SOX21
(S194P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(P251S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX21
(M260I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BIVM-ERCC5, CCDC168
+40 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+116 more
Copy number gain
not provided
GPathogenic
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+93 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABCC4, ABHD13
+96 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+97 more
Copy number gain
not specified
GPathogenic
DCUN1D2, ERCC5
+101 more
Copy number loss
not specified
GPathogenic
MIR18A, MIR19A
+104 more
Copy number gain
not specified
GPathogenic
ACOD1, ADPRHL1
+129 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ABCC4, CLDN10
+7 more
Duplication
not provided
GUncertain significance
GTF2F2, PRR20D
+175 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
SOX21
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ITGBL1, LIG4
+58 more
Deletion
Distal monosomy 13q
GPathogenic
ABCC4, CLDN10
+41 more
Deletion
Holoprosencephaly 5
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, HS6ST3
+9 more
Copy number gain
not provided
GUncertain significance
CDC16, NALCN
+142 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+86 more
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+103 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+49 more
Copy number loss
not provided
GPathogenic
GPC5, SOX21
+10 more
Copy number gain
not provided
GUncertain significance
SOX21, DCT
+8 more
Copy number gain
not provided
GUncertain significance
ABCC4, ACOD1
+60 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+137 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+86 more
Copy number loss
See cases
GPathogenic
TGDS, TM9SF2
+97 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+100 more
Copy number gain
See cases
GPathogenic
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ARGLU1
+58 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+125 more
Copy number gain
See cases
GPathogenic
MIR4500HG, MIR92A1
+102 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+43 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+94 more
Copy number loss
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+663 more
Copy number gain
See cases
GPathogenic
LOC124946344, LOC124946345
+706 more
Copy number gain
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130010040, LOC130010041
+236 more
Copy number loss
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+638 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+348 more
Copy number loss
See cases
GPathogenic
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, CLDN10
+73 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+88 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+168 more
Copy number loss
See cases
GPathogenic
LOC126861817, LOC126861818
+344 more
Copy number gain
See cases
GPathogenic
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