ClinVar for MedGen (Select 1809253) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065612	NM_006715.4(MAN2C1):c.2197C>T (p.Pro733Ser)	MAN2C1 (P634S +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 2582393	NM_006715.4(MAN2C1):c.833G>A (p.Arg278Gln)	MAN2C1 (R278Q)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 2580926	NM_006715.4(MAN2C1):c.1167C>G (p.Ile389Met)	MAN2C1 (I290M +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 1805966	NM_006715.4(MAN2C1):c.2702G>A (p.Arg901His)	MAN2C1, NEIL1 (R802H +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 1803699	NM_006715.4(MAN2C1):c.1825G>A (p.Ala609Thr)	MAN2C1 (A510T +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 2 +1 more	GConflicting classifications of pathogenicity
Select item 1687395	NM_006715.4(MAN2C1):c.52_54del (p.Glu18del)	LOC112272617, MAN2C1 (E18del)	Deletion (inframe_deletion)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 1687203	NM_006715.4(MAN2C1):c.2997-1G>T	MAN2C1, NEIL1	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 1342930	NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg)	MAN2C1 (G203R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation 2	GLikely pathogenic
Select item 1342929	NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs)	MAN2C1, NEIL1 (H812fs +2 more)	Microsatellite (frameshift variant +2 more)	Congenital disorder of deglycosylation 2	GLikely pathogenic
Select item 1342928	NM_006715.4(MAN2C1):c.2612G>C (p.Cys871Ser)	MAN2C1, NEIL1 (C871S +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of deglycosylation 2	GPathogenic
Select item 1342927	NM_006715.4(MAN2C1):c.2303G>A (p.Arg768Gln)	MAN2C1 (R768Q +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 1342926	NM_006715.4(MAN2C1):c.601-2A>G	MAN2C1	Single nucleotide variant (intron variant +1 more)	Congenital disorder of deglycosylation 2	GConflicting classifications of pathogenicity