"PreventionGenetics, part of Exact Sciences"[submitter] AND "BACE2"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048890	NM_012105.5(BACE2):c.111G>A (p.Ala37=)	BACE2	Single nucleotide variant (synonymous variant)	BACE2-related disorder	GBenign
Select item 755920	NM_012105.5(BACE2):c.264T>A (p.Ser88=)	BACE2	Single nucleotide variant (synonymous variant)	BACE2-related disorder +1 more	GLikely benign
Select item 3049206	NM_012105.5(BACE2):c.312+11038G>A	BACE2, PLAC4 (R6C)	Single nucleotide variant (missense variant +2 more)	PLAC4-related disorder	GLikely benign
Select item 3059580	NM_012105.5(BACE2):c.748-10C>T	BACE2	Single nucleotide variant (intron variant)	BACE2-related disorder	GBenign
Select item 3060688	NM_012105.5(BACE2):c.1092C>T (p.Asp364=)	BACE2	Single nucleotide variant (synonymous variant +1 more)	BACE2-related disorder	GBenign
Select item 786689	NM_012105.5(BACE2):c.1135-10C>T	BACE2	Single nucleotide variant (intron variant)	BACE2-related disorder +1 more	GBenign
Select item 786690	NM_012105.5(BACE2):c.1304-8C>T	BACE2, LOC126653380	Single nucleotide variant (intron variant)	BACE2-related disorder +1 more	GBenign
Select item 3038903	NM_012105.5(BACE2):c.1378G>A (p.Ala460Thr)	BACE2, LOC126653380 (A410T +1 more)	Single nucleotide variant (missense variant +1 more)	BACE2-related disorder	GLikely benign
Select item 726927	NM_012105.5(BACE2):c.1432G>A (p.Val478Ile)	BACE2, LOC126653380 (V478I +1 more)	Single nucleotide variant (missense variant +1 more)	BACE2-related disorder +1 more	GLikely benign