LOC108660405[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 148987	GRCh38/hg38 5q32(chr5:146799840-147408423)x3	DPYSL3, LOC108660405 +7 more	Copy number gain	See cases	GLikely benign
Select item 3059028	NM_181675.3(PPP2R2B):c.40_57dup18	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 3037533	NM_181675.3(PPP2R2B):c.34_57dup24	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 2655889	NM_181674.3(PPP2R2B):c.75-562AGC[19]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 2655888	NM_181674.3(PPP2R2B):c.75-562AGC[12]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 2655887	NM_181674.3(PPP2R2B):c.75-562AGC[11]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 445389	NM_181674.3(PPP2R2B):c.75-562AGC[17]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 218860	NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15])	PPP2R2B, LOC108660405	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 3056407	NM_181674.3(PPP2R2B):c.75-562AGC[9]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 1050601	NM_181674.3(PPP2R2B):c.75-562AGC[4]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 5614	NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])	LOC108660405, PPP2R2B	Microsatellite	Spinocerebellar ataxia type 12	GBenign