LOC128772266[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 147564	GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	LOC110120688, LOC110120744 +99 more	Copy number gain	See cases	GPathogenic
Select item 152422	GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	LOC110120744, LOC110120771 +86 more	Copy number loss	See cases	GPathogenic
Select item 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 57299	GRCh38/hg38 5q14.3(chr5:90228146-91116592)x1	ADGRV1, CETN3 +27 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 1098682	NC_000005.10:g.90904210_91123767del	LOC128772266, LOC128772267 +8 more	Deletion	Febrile seizures, familial, 4	GUncertain significance