4123[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2634552	NM_006715.4(MAN2C1):c.2584G>A (p.Gly862Ser)	MAN2C1, NEIL1 (G763S +2 more)	Single nucleotide variant (missense variant +2 more)	MAN2C1-related disorder	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 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 2568262	NM_006715.4(MAN2C1):c.2516A>G (p.Tyr839Cys)	MAN2C1 (Y856C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122562	NM_006715.4(MAN2C1):c.2477A>G (p.Tyr826Cys)	MAN2C1 (Y727C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347436	NM_006715.4(MAN2C1):c.2476T>C (p.Tyr826His)	MAN2C1 (Y727H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612650	NM_006715.4(MAN2C1):c.2468A>C (p.Gln823Pro)	MAN2C1 (Q724P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466559	NM_006715.4(MAN2C1):c.2459G>A (p.Arg820Gln)	MAN2C1 (R721Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467173	NM_006715.4(MAN2C1):c.2455G>C (p.Val819Leu)	MAN2C1 (V819L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596903	NM_006715.4(MAN2C1):c.2341A>C (p.Ser781Arg)	MAN2C1 (S781R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122561	NM_006715.4(MAN2C1):c.2336C>A (p.Pro779His)	MAN2C1 (P796H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2458055	NM_006715.4(MAN2C1):c.2302C>T (p.Arg768Trp)	MAN2C1 (R669W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122560	NM_006715.4(MAN2C1):c.2290G>A (p.Glu764Lys)	MAN2C1 (E781K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408652	NM_006715.4(MAN2C1):c.2281G>A (p.Val761Met)	MAN2C1 (V761M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454513	NM_006715.4(MAN2C1):c.2252C>T (p.Pro751Leu)	MAN2C1 (P751L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291437	NM_006715.4(MAN2C1):c.2220C>A (p.Asp740Glu)	MAN2C1 (D757E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122559	NM_006715.4(MAN2C1):c.2204A>G (p.Tyr735Cys)	MAN2C1 (Y636C +2 more)	Single nucleotide variant (missense variant)	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 2636037	NM_006715.4(MAN2C1):c.2164G>A (p.Val722Met)	MAN2C1 (V623M +2 more)	Single nucleotide variant (missense variant)	MAN2C1-related disorder	GUncertain significance
Select item 3122558	NM_006715.4(MAN2C1):c.2153C>A (p.Ala718Asp)	MAN2C1 (A718D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241972	NM_006715.4(MAN2C1):c.2128G>C (p.Val710Leu)	MAN2C1 (V710L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400302	NM_006715.4(MAN2C1):c.2108G>C (p.Arg703Pro)	MAN2C1 (R604P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483609	NM_006715.4(MAN2C1):c.2084G>T (p.Arg695Leu)	MAN2C1 (R712L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270088	NM_006715.4(MAN2C1):c.2030T>A (p.Val677Glu)	MAN2C1 (V578E +2 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2294803	NM_006715.4(MAN2C1):c.1997C>T (p.Thr666Ile)	MAN2C1 (T567I +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2593500	NM_006715.4(MAN2C1):c.1993C>G (p.Pro665Ala)	MAN2C1 (P566A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216769	NM_006715.4(MAN2C1):c.1936G>T (p.Ala646Ser)	MAN2C1 (A646S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289072	NM_006715.4(MAN2C1):c.1900C>T (p.Arg634Trp)	MAN2C1 (R535W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339895	NM_006715.4(MAN2C1):c.1856C>G (p.Pro619Arg)	MAN2C1 (P520R +1 more)	Single nucleotide variant (missense variant)	not specified	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 3122557	NM_006715.4(MAN2C1):c.1808G>T (p.Gly603Val)	MAN2C1 (G603V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399500	NM_006715.4(MAN2C1):c.1805A>G (p.His602Arg)	MAN2C1 (H503R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353499	NM_006715.4(MAN2C1):c.1799G>A (p.Arg600His)	MAN2C1 (R501H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556988	NM_006715.4(MAN2C1):c.1707G>C (p.Arg569Ser)	MAN2C1 (R569S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122555	NM_006715.4(MAN2C1):c.1623C>G (p.His541Gln)	MAN2C1 (H442Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645555	NM_006715.4(MAN2C1):c.1623C>T (p.His541=)	MAN2C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489325	NM_006715.4(MAN2C1):c.1570A>G (p.Thr524Ala)	MAN2C1 (T524A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060879	NM_006715.4(MAN2C1):c.1460+9A>G	MAN2C1	Single nucleotide variant (intron variant)	MAN2C1-related disorder	GBenign
Select item 3122554	NM_006715.4(MAN2C1):c.1412C>T (p.Thr471Ile)	MAN2C1 (T372I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122553	NM_006715.4(MAN2C1):c.1372C>T (p.Leu458Phe)	MAN2C1 (L458F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617825	NM_006715.4(MAN2C1):c.1352G>A (p.Arg451Gln)	MAN2C1 (R352Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122552	NM_006715.4(MAN2C1):c.1351C>T (p.Arg451Trp)	MAN2C1 (R352W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122551	NM_006715.4(MAN2C1):c.1339C>T (p.Arg447Trp)	MAN2C1 (R348W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122550	NM_006715.4(MAN2C1):c.1307T>C (p.Val436Ala)	MAN2C1 (V337A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495594	NM_006715.4(MAN2C1):c.1198A>G (p.Asn400Asp)	MAN2C1 (N301D +1 more)	Single nucleotide variant (missense variant)	not specified	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 3122549	NM_006715.4(MAN2C1):c.1156G>A (p.Gly386Ser)	MAN2C1 (G287S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494455	NM_006715.4(MAN2C1):c.1036A>G (p.Met346Val)	MAN2C1 (M247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122575	NM_006715.4(MAN2C1):c.923G>T (p.Ser308Ile)	MAN2C1 (S209I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376837	NM_006715.4(MAN2C1):c.866G>A (p.Arg289Gln)	MAN2C1 (R289Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296306	NM_006715.4(MAN2C1):c.844A>T (p.Thr282Ser)	MAN2C1 (T282S)	Single nucleotide variant (missense variant +1 more)	not specified	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 3122574	NM_006715.4(MAN2C1):c.832C>T (p.Arg278Trp)	MAN2C1 (R278W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321393	NM_006715.4(MAN2C1):c.830C>A (p.Ala277Asp)	MAN2C1 (A277D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313280	NM_006715.4(MAN2C1):c.825A>T (p.Lys275Asn)	MAN2C1 (K275N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2682254	NM_006715.4(MAN2C1):c.768del (p.His258fs)	MAN2C1 (H258fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2370363	NM_006715.4(MAN2C1):c.685G>A (p.Glu229Lys)	MAN2C1 (E229K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122573	NM_006715.4(MAN2C1):c.623G>A (p.Arg208His)	MAN2C1 (R208H)	Single nucleotide variant (missense variant +1 more)	not specified	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 1342926	NM_006715.4(MAN2C1):c.601-2A>G	MAN2C1	Single nucleotide variant (intron variant +1 more)	Congenital disorder of deglycosylation 2 +1 more	GConflicting classifications of pathogenicity
Select item 2305991	NM_006715.4(MAN2C1):c.553G>A (p.Val185Ile)	MAN2C1 (V185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122572	NM_006715.4(MAN2C1):c.524G>A (p.Arg175Gln)	MAN2C1 (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122571	NM_006715.4(MAN2C1):c.523C>G (p.Arg175Gly)	MAN2C1 (R175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264516	NM_006715.4(MAN2C1):c.469G>A (p.Gly157Arg)	MAN2C1 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460231	NM_006715.4(MAN2C1):c.466G>T (p.Ala156Ser)	MAN2C1 (A156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310610	NM_006715.4(MAN2C1):c.419G>A (p.Arg140Gln)	MAN2C1 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308617	NM_006715.4(MAN2C1):c.353G>A (p.Gly118Asp)	MAN2C1 (G118D)	Single nucleotide variant (missense variant)	not specified	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 2326312	NM_006715.4(MAN2C1):c.289G>A (p.Val97Ile)	MAN2C1 (V97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337335	NM_006715.4(MAN2C1):c.239G>A (p.Cys80Tyr)	MAN2C1 (C80Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281782	NM_006715.4(MAN2C1):c.219C>A (p.Phe73Leu)	MAN2C1 (F73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458220	NM_006715.4(MAN2C1):c.178G>A (p.Val60Ile)	MAN2C1 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237140	NM_006715.4(MAN2C1):c.170A>G (p.Gln57Arg)	MAN2C1 (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122556	NM_006715.4(MAN2C1):c.167A>C (p.Tyr56Ser)	MAN2C1 (Y56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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