ClinVar for MedGen (Select 120651) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664774	NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)	SARDH (R481H)	Single nucleotide variant (missense variant)	Sarcosine dehydrogenase deficiency	GUncertain significance
Select item 2433137	NM_001134707.2(SARDH):c.1306del (p.Asp436fs)	SARDH (D436fs)	Deletion (frameshift variant)	Sarcosine dehydrogenase deficiency	GLikely pathogenic
Select item 786146	NM_001134707.2(SARDH):c.473A>G (p.Asn158Ser)	SARDH (N158S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 711531	NM_001134707.2(SARDH):c.1299G>A (p.Pro433=)	SARDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 39451	NM_001134707.2(SARDH):c.1540C>T (p.Arg514Ter)	SARDH (R514*)	Single nucleotide variant (nonsense)	Sarcosine dehydrogenase deficiency	GAffects
Select item 39450	NM_001134707.2(SARDH):c.2167C>T (p.Arg723Ter)	SARDH (R723*)	Single nucleotide variant (nonsense)	Sarcosine dehydrogenase deficiency	GAffects
Select item 39449	NM_001134707.2(SARDH):c.860C>T (p.Pro287Leu)	SARDH (P287L)	Single nucleotide variant (missense variant)	Sarcosine dehydrogenase deficiency	GAffects
Select item 39448	NM_001134707.2(SARDH):c.211G>T (p.Val71Phe)	SARDH (V71F)	Single nucleotide variant (missense variant)	Sarcosine dehydrogenase deficiency	GAffects

ClinVar