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Links from Gene

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTUS2, MTUS2-AS1
(E64K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTUS2, MTUS2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MTUS2, MTUS2-AS1
(E1069K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTUS2, MTUS2-AS1
(Q1071R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTUS2, MTUS2-AS1
(R1015L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTUS2, MTUS2-AS1
(R1048H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTUS2, MTUS2-AS1
(R1061Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
ALG5, ALOX5AP
+211 more
Copy number gain
See cases
GPathogenic
LOC126861730, LOC126861731
+489 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
ALOX5AP, B3GLCT
+203 more
Copy number loss
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
CDX2, FLT1
+123 more
Copy number gain
See cases
GLikely pathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009490, LOC130009491
+416 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
LOC130009419, LOC130009420
+567 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
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