"GeneDx"[submitter] AND "LOC123956272"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +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 152090	GRCh38/hg38 7q36.1(chr7:152107145-152507995)x3	GALNT11, KMT2C +15 more	Copy number gain	See cases	GLikely benign
Select item 152094	GRCh38/hg38 7q36.1(chr7:152134952-152295367)x3	KMT2C, LOC123956272 +2 more	Copy number gain	See cases	GLikely benign
Select item 1710627	NM_170606.3(KMT2C):c.1097A>G (p.Tyr366Cys)	KMT2C, LOC123956272 (Y366C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581834	NM_170606.3(KMT2C):c.1063G>A (p.Asp355Asn)	KMT2C, LOC123956272 (D355N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452718	NM_170606.3(KMT2C):c.1013-1G>A	KMT2C, LOC123956272	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic