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Links from Gene

Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD13, ADPRHL1
+66 more
Copy number gain
not provided
GPathogenic
ARGLU1, BIVM
+6 more
Copy number loss
See cases
GUncertain significance
ABHD13, ARGLU1
+34 more
Copy number loss
not provided
GPathogenic
BIVM, BIVM-ERCC5
(K19E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+54 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+53 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
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
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
BIVM, BIVM-ERCC5
(A79V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DZIP1, ERCC5
+35 more
Copy number gain
See cases
GPathogenic
BIVM, BIVM-ERCC5
+8 more
Deletion
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
GPathogenic
BIVM, BIVM-ERCC5
+18 more
Duplication
not provided
GUncertain significance
BIVM, BIVM-ERCC5
(G270A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD13, ADPRHL1
+67 more
Copy number gain
not provided
GPathogenic
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
ABHD13, ARGLU1
+25 more
Copy number loss
not provided
GPathogenic
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
BIVM, BIVM-ERCC5
(I82V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
ABHD13, ADPRHL1
+62 more
Copy number loss
not specified
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
GTF2F2, PRR20D
+175 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
BIVM, BIVM-ERCC5
(S255L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
ITGBL1, LIG4
+58 more
Deletion
Distal monosomy 13q
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+55 more
Deletion
not provided
GPathogenic
METTL21C, TEX30
+6 more
Copy number gain
not provided
GUncertain significance
BIVM-ERCC5, BIVM
+8 more
Copy number gain
not provided
GUncertain significance
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
BIVM, BIVM-ERCC5
+33 more
Copy number loss
not provided
GPathogenic
CDC16, NALCN
+142 more
Copy number loss
not provided
GPathogenic
BIVM-ERCC5, BIVM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BIVM, BIVM-ERCC5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BIVM, BIVM-ERCC5
+2 more
Copy number gain
not provided
GUncertain significance
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
ABHD13, ADPRHL1
+56 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+103 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+49 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
BIVM, BIVM-ERCC5
+26 more
Copy number gain
See cases
GLikely pathogenic
ABHD13, ADPRHL1
+77 more
Copy number loss
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
ABHD13, ADPRHL1
+53 more
Copy number loss
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
BIVM, BIVM-ERCC5
+6 more
Copy number gain
See cases
GUncertain significance
MIR4500HG, MIR92A1
+102 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
BIVM, BIVM-ERCC5
+1 more
Copy number gain
See cases
GUncertain significance
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
LOC130010172, LOC130010173
+367 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
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130010039, LOC130010040
+369 more
Copy number gain
See cases
GPathogenic
BIVM, BIVM-ERCC5
+40 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
LOC124946325, LOC124946326
+271 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
ABHD13, ADPRHL1
+360 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
BIVM, BIVM-ERCC5
+184 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
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