Related gene-specific medical variations for Gene (Select 4123) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122570	NM_006715.4(MAN2C1):c.3115C>T (p.Pro1039Ser)	MAN2C1, NEIL1 (P940S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122569	NM_006715.4(MAN2C1):c.2848G>A (p.Val950Met)	LOC121847958, MAN2C1 +1 more (V927M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122568	NM_006715.4(MAN2C1):c.2809C>T (p.Pro937Ser)	LOC121847958, MAN2C1 +1 more (P954S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122567	NM_006715.4(MAN2C1):c.2752G>A (p.Ala918Thr)	MAN2C1, NEIL1 (A935T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3122566	NM_006715.4(MAN2C1):c.2656C>T (p.Leu886Phe)	MAN2C1, NEIL1 (L886F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122563	NM_006715.4(MAN2C1):c.2558A>C (p.His853Pro)	MAN2C1, NEIL1 (H853P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2645554	NM_006715.4(MAN2C1):c.2730G>A (p.Pro910=)	MAN2C1, NEIL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2634552	NM_006715.4(MAN2C1):c.2584G>A (p.Gly862Ser)	MAN2C1, NEIL1 (G763S +2 more)	Single nucleotide variant (missense variant +2 more)	MAN2C1-related condition	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 2567622	NM_006715.4(MAN2C1):c.2597C>T (p.Ala866Val)	MAN2C1, NEIL1 (A866V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554917	NM_006715.4(MAN2C1):c.2663G>A (p.Arg888Gln)	MAN2C1, NEIL1 (R905Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538220	NM_006715.4(MAN2C1):c.3053G>A (p.Arg1018His)	MAN2C1, NEIL1 (R1018H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521300	NM_006715.4(MAN2C1):c.2701C>T (p.Arg901Cys)	MAN2C1, NEIL1 (R901C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456711	NM_006715.4(MAN2C1):c.3052C>T (p.Arg1018Cys)	MAN2C1, NEIL1 (R1035C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375766	NM_006715.4(MAN2C1):c.11C>T (p.Ala4Val)	LOC112272617, MAN2C1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368949	NM_006715.4(MAN2C1):c.47G>A (p.Arg16Gln)	LOC112272617, MAN2C1 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330635	NM_006715.4(MAN2C1):c.27C>G (p.His9Gln)	LOC112272617, MAN2C1 (H9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311324	NM_006715.4(MAN2C1):c.3034T>A (p.Leu1012Met)	MAN2C1, NEIL1 (L913M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300820	NM_006715.4(MAN2C1):c.49G>C (p.Val17Leu)	LOC112272617, MAN2C1 (V17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292447	NM_006715.4(MAN2C1):c.2561G>A (p.Arg854His)	MAN2C1, NEIL1 (R871H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283851	NM_006715.4(MAN2C1):c.2866G>A (p.Val956Ile)	LOC121847958, MAN2C1 +1 more (V857I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219363	NM_006715.4(MAN2C1):c.2908C>T (p.Arg970Cys)	LOC121847958, MAN2C1 +1 more (R987C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 1803700	NM_006715.4(MAN2C1):c.351+3G>A	MAN2C1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 27 without anosmia	GUncertain significance
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 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

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Links from Gene

Items: 30