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Items: 1 to 100 of 1065

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5L, LINC00111
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1160 more
Copy number gain
See cases
GPathogenic
KRTAP8-1, LCA5L
+1160 more
Copy number gain
See cases
GPathogenic
RNA5-8SN1, RNA5-8SN2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066804, LOC130066805
+1160 more
Copy number gain
See cases
GUncertain significance
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
SCAF4, SETD4
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1159 more
Copy number gain
See cases
GPathogenic
LOC129388418, LOC129391214
+1160 more
Copy number gain
See cases
GPathogenic
KCNJ6, KCNJ6-AS1
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LINC00515, LINC00649
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066731, LOC130066732
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
ETS2-AS1, EVA1C
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066726, LOC130066727
+1159 more
Copy number gain
See cases
GPathogenic
LOC128849172, LOC129388418
+884 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
SLC5A3, SLX9
+1159 more
Copy number gain
See cases
GPathogenic
LINC01425, LINC01426
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066861, LOC130066862
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066468, LOC130066469
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066795, LOC130066796
+1156 more
Copy number loss
See cases
GPathogenic
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
B3GALT5, B3GALT5-AS1
+177 more
Copy number loss
See cases
GPathogenic
CBR1, CBR1-AS1
+110 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 more
Copy number gain
See cases
GPathogenic
CHAF1B, CLDN14
+99 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
DSCR9, DYRK1A
+34 more
Copy number gain
See cases
GPathogenic
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Duplication
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
HLCS
Deletion
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Deletion
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Duplication
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GBenign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Microsatellite
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Deletion
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Duplication
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Microsatellite
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GBenign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GBenign
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(3 prime UTR variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
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