Related gene-specific medical variations for Gene (Select 29958) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3083087	NM_013391.3(DMGDH):c.2566C>T (p.Arg856Trp)	DMGDH, LOC126807431 (R856W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083086	NM_013391.3(DMGDH):c.2450A>T (p.Tyr817Phe)	DMGDH, LOC126807431 (Y817F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655554	NM_013391.3(DMGDH):c.2545T>C (p.Leu849=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442124	NM_013391.3(DMGDH):c.1531C>T (p.Arg511Cys)	DMGDH (R511C)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	GUncertain significance
Select item 726130	NM_013391.3(DMGDH):c.2464C>T (p.Leu822=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548521	NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn)	DMGDH (D708N)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	GUncertain significance
Select item 384203	NM_013391.3(DMGDH):c.2535A>G (p.Glu845=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 374514	NM_013391.3(DMGDH):c.*8C>T	DMGDH, LOC126807431	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance

ClinVar