ClinVar for MedGen (Select 895025) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098426	NM_015077.4(SARM1):c.549= (p.Ser183=)	SARM1	Variation (no sequence alteration)	TMEM199-CDG +1 more	GBenign/Likely benign
Select item 773876	NM_152464.3(TMEM199):c.156A>G (p.Gln52=)	LOC130060544, TMEM199	Single nucleotide variant (synonymous variant)	TMEM199-CDG +1 more	GBenign/Likely benign
Select item 427819	NM_152464.2(TMEM199):c.[376-1G>A];[40G>C]			Congenital disorders of glycosylation type II	GPathogenic
Select item 223001	NM_152464.3(TMEM199):c.376-1G>A	TMEM199	Single nucleotide variant (splice acceptor variant)	TMEM199-CDG	GPathogenic
Select item 223000	NM_152464.3(TMEM199):c.40G>C (p.Ala14Pro)	TMEM199 (A14P)	Single nucleotide variant (missense variant)	TMEM199-CDG	GPathogenic
Select item 218965	NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)	TMEM199 (A7E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 218964	NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)	TMEM199 (R31P)	Single nucleotide variant (missense variant)	TMEM199-related disorder +1 more	GPathogenic/Likely pathogenic

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