Related gene-specific medical variations for Gene (Select 130340) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062392	GRCh37/hg19 2q36.1(chr2:224634382-224670920)x1	AP1S3	Copy number loss	not specified	GUncertain significance
Select item 3050615	NM_001039569.2(AP1S3):c.3+9G>C	AP1S3, LOC129935691	Single nucleotide variant (intron variant)	AP1S3-related condition	GLikely benign
Select item 2688582	NM_001039569.2(AP1S3):c.28C>T (p.Arg10Ter)	AP1S3 (R10*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1285186	NM_001039569.2(AP1S3):c.3+8C>A	AP1S3, LOC129935691	Single nucleotide variant (intron variant)	AP1S3-related condition	GLikely benign
Select item 685837	GRCh37/hg19 2q36.1(chr2:224624079-224726623)x3	AP1S3	Copy number gain	not provided	GUncertain significance

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