ClinVar for MedGen (Select 1794145) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065465	NM_152713.5(STT3A):c.544A>G (p.Met182Val)	STT3A (M182V +1 more)	Single nucleotide variant (missense variant)	STT3A-congenital disorder of glycosylation	GUncertain significance
Select item 1299225	NM_152713.5(STT3A):c.1310G>A (p.Arg437His)	STT3A (R345H +1 more)	Single nucleotide variant (missense variant)	STT3A-congenital disorder of glycosylation	GUncertain significance
Select item 1292112	NM_152713.5(STT3A):c.961+25C>T	STT3A	Single nucleotide variant (intron variant)	STT3A-congenital disorder of glycosylation +1 more	GBenign
Select item 1287809	NM_152713.5(STT3A):c.1775-8dup	STT3A	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1027877	NM_152713.5(STT3A):c.415A>C (p.Lys139Gln)	STT3A (K139Q +1 more)	Single nucleotide variant (missense variant)	STT3A-congenital disorder of glycosylation	GUncertain significance
Select item 380031	NM_152713.5(STT3A):c.1117+12C>T	STT3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 380015	NM_152713.5(STT3A):c.996G>A (p.Ser332=)	STT3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 102443	NM_152713.5(STT3A):c.1877T>C (p.Val626Ala)	STT3A (V626A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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