"GeneDx"[submitter] AND "LOC126860224"[gene] - ClinVar

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Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 1262311	NM_000603.5(NOS3):c.1503-30A>G	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227505	NM_000603.5(NOS3):c.1648-38G>T	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275619	NM_000603.5(NOS3):c.1752+80AC[29]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1265223	NM_000603.5(NOS3):c.1752+80AC[30]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1261942	NM_000603.5(NOS3):c.1752+80AC[32]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign