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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
LOC129390145, MIR511
+4 more
Copy number loss
See cases
GLikely benign
MRC1, TMEM236
Copy number loss
See cases
Gconflicting data from submitters
MRC1, TMEM236
Copy number gain
See cases
GLikely benign
MRC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MIR511, MRC1
Copy number gain
See cases
GBenign
MRC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRC1
(G396S)
Single nucleotide variant
(missense variant)
Susceptibility to leprosy and multibacillary leprosy
+1 more
GUncertain risk allele; risk factor
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