ClinVar for Gene (Select 122056798) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +29 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59357	GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1	LOC122056798, LOC129388471 +10 more	Copy number loss	See cases	GUncertain significance
Select item 17711	NC_000001.11:g.(25258851_25268086)_(25329003_25338415)del	LOC122056798, LOC129929767 +3 more	Deletion	RHD-NEGATIVE POLYMORPHISM	GBenign

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