"PreventionGenetics, part of Exact Sciences"[submitter] AND "BDH1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052892	NM_203314.3(BDH1):c.941G>A (p.Arg314His)	BDH1 (R314H)	Single nucleotide variant (missense variant)	BDH1-related condition	GLikely benign
Select item 715597	NM_203314.3(BDH1):c.643G>A (p.Val215Ile)	BDH1 (V215I)	Single nucleotide variant (missense variant)	BDH1-related condition +1 more	GBenign
Select item 2631871	NM_203314.3(BDH1):c.574A>G (p.Asn192Asp)	BDH1 (N192D)	Single nucleotide variant (missense variant)	BDH1-related condition	GUncertain significance
Select item 720182	NM_203314.3(BDH1):c.414G>A (p.Met138Ile)	BDH1 (M138I)	Single nucleotide variant (missense variant)	BDH1-related condition +1 more	GBenign
Select item 3055320	NM_203314.3(BDH1):c.411C>G (p.Gly137=)	BDH1	Single nucleotide variant (synonymous variant)	BDH1-related condition	GBenign
Select item 3044178	NM_203314.3(BDH1):c.328G>A (p.Val110Ile)	BDH1 (V110I)	Single nucleotide variant (missense variant)	BDH1-related condition	GLikely benign
Select item 3053006	NM_203314.3(BDH1):c.267+9C>T	BDH1	Single nucleotide variant (intron variant)	BDH1-related condition	GLikely benign
Select item 3044823	NM_203314.3(BDH1):c.127C>T (p.Arg43Cys)	BDH1 (R43C)	Single nucleotide variant (missense variant)	BDH1-related condition	GBenign
Select item 3040435	NM_203314.3(BDH1):c.-10C>T	BDH1	Single nucleotide variant (5 prime UTR variant)	BDH1-related condition	GLikely benign

ClinVar