"GeneDx"[submitter] AND "LOC129934748"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 1207338	NM_004807.3(HS6ST1):c.527+103C>A	HS6ST1, LOC129934748	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3369895	NM_004807.3(HS6ST1):c.512C>T (p.Ala171Val)	HS6ST1, LOC129934748 (A171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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