"GeneDx"[submitter] AND "LOC129929078"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 151330	GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	AGRN, HES4 +35 more	Copy number gain	See cases	GBenign
Select item 151320	GRCh38/hg38 1p36.33(chr1:955565-1072906)x3	AGRN, HES4 +29 more	Copy number gain	See cases	GBenign
Select item 151325	GRCh38/hg38 1p36.33(chr1:978251-1072906)x3	AGRN, HES4 +22 more	Copy number gain	See cases	GBenign
Select item 151327	GRCh38/hg38 1p36.33(chr1:996104-1072906)x3	AGRN, HES4 +20 more	Copy number gain	See cases	GBenign
Select item 145206	GRCh38/hg38 1p36.33(chr1:1029317-1072906)x3	AGRN, LOC100288175 +10 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145205	GRCh38/hg38 1p36.33(chr1:1029317-1072906)x4	AGRN, LOC100288175 +10 more	Copy number gain	See cases	GBenign
Select item 263195	NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)	AGRN, LOC129929078 (R1734H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign