"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC130061 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1970928	NM_182641.4(BPTF):c.396GGA[1] (p.Glu136_Glu138del)	BPTF, LOC130061496	Microsatellite (inframe_deletion)	BPTF-related disorder +1 more	GLikely benign
Select item 1971233	NM_182641.4(BPTF):c.429GGA[8] (p.Glu148_Asp149insGluGlu)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2855584	NM_182641.4(BPTF):c.429GGA[5] (p.Glu148del)	BPTF, LOC130061496 (E148del)	Microsatellite (inframe_deletion)	BPTF-related disorder +1 more	GLikely benign
Select item 3032982	NM_182641.4(BPTF):c.456C>T (p.Ala152=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 1970967	NM_182641.4(BPTF):c.480C>G (p.Asp160Glu)	BPTF, LOC130061496 (D160E)	Single nucleotide variant (missense variant)	BPTF-related disorder +1 more	GBenign
Select item 1806224	NM_182641.4(BPTF):c.542ACG[4] (p.Asp185del)	BPTF, LOC130061496 (D185del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 1970951	NM_182641.4(BPTF):c.570G>A (p.Thr190=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1971726	NM_182641.4(BPTF):c.604A>G (p.Ser202Gly)	BPTF, LOC130061496 (S202G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign

ClinVar