ClinVar for Gene (Select 728342) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, APC +119 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	LOC129994315, LOC129994316 +230 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
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 59448	GRCh38/hg38 5q23.1(chr5:116732695-118380159)x3	LINC00992, LINC02147 +12 more	Copy number gain	See cases	GUncertain significance