SEMA6A-AS1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 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 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 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 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
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 2549876	NM_020796.5(SEMA6A):c.2086C>T (p.Arg696Trp)	SEMA6A, SEMA6A-AS1 (R713W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159887	NM_020796.5(SEMA6A):c.2030G>A (p.Arg677Gln)	SEMA6A, SEMA6A-AS1 (R677Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525226	NM_020796.5(SEMA6A):c.1926C>A (p.His642Gln)	SEMA6A, SEMA6A-AS1 (H642Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159886	NM_020796.5(SEMA6A):c.1897G>C (p.Val633Leu)	SEMA6A, SEMA6A-AS1 (V633L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588132	NM_020796.5(SEMA6A):c.1853C>A (p.Pro618His)	SEMA6A, SEMA6A-AS1 (P618H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355272	NM_020796.5(SEMA6A):c.1816T>C (p.Trp606Arg)	SEMA6A, SEMA6A-AS1 (W606R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224954	NM_020796.5(SEMA6A):c.1772C>T (p.Ser591Leu)	SEMA6A, SEMA6A-AS1 (S591L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance