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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Anemia, Megaloblastic (D000749)
Parent Node: Diseases (C)
Parent Node: Imerslund-Grasbeck syndrome (C538556)
..Starting node ..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
Child Nodes:
Sister Nodes:
..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6896

Name:

MEGALOBLASTIC ANEMIA 1

Definition:

Alternative IDs:

ParentIDs:

MESH:C538556|MESH:D000749

TreeNumbers:

C06.405.469.637/C538556/261100 |C12.777.934.734/C538556/261100 |C13.351.968.934.734/C538556/261100 |C15.378.071.252.196/261100 |C18.452.603/C538556/261100 |C18.654.521.500.133.699.923/C538556/261100 |C23.888.942.750/C538556/261100

Synonyms:

Slim Mappings:

Reference:

MedGen: 261100
MeSH: 261100
OMIM: 261100;

Genes: AMN; CUBN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0001289	Confusion
4	HP:0000726	Dementia
5	HP:0200118	Malabsorption of Vitamin B12
6	HP:0001889	Megaloblastic anemia
7	HP:0003401	Paresthesia
8	HP:0000093	Proteinuria
9	HP:0003474	Somatic sensory dysfunction

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_030943.3(AMN):c.14delG (p.Gly5Alafs)	81693	AMN	Likely pathogenic	386834168	RCV000050162;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103389039	103389039	NM_030943.3:c.14delG	NP_112205.2:p.Gly5Alafs	NC_000014.8:g.103389039delG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.43+1G>T	81693	AMN	Likely pathogenic	386834172	RCV000050166;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103389069	103389069	NM_030943.3:c.43+1G>T		NC_000014.8:g.103389069G>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.208-2A>G	81693	AMN	Likely pathogenic	386834170	RCV000050164;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103394761	103394761	NM_030943.3:c.208-2A>G		NC_000014.8:g.103394761A>G	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.208-1G>C	81693	AMN	Likely pathogenic	386834169	RCV000050163;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103394762	103394762	NM_030943.3:c.208-1G>C		NC_000014.8:g.103394762G>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.295delG (p.Gly99Alafs)	81693	AMN	Likely pathogenic	386834171	RCV000050165;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103394850	103394850	NM_030943.3:c.295delG	NP_112205.2:p.Gly99Alafs	NC_000014.8:g.103394850delG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.468dupT (p.Gly157Trpfs)	81693	AMN	Likely pathogenic	386834173	RCV000050167;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395267	103395267	NM_030943.3:c.468dupT	NP_112205.2:p.Gly157Trpfs	NC_000014.8:g.103395267dupT	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.514-34G>A	81693	AMN	Likely pathogenic	144077391	RCV000050168;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395424	103395424	NM_030943.3:c.514-34G>A		NC_000014.8:g.103395424G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.663G>A (p.Trp221Ter)	81693	AMN	Likely pathogenic	386834174	RCV000050169;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395776	103395776	NM_030943.3:c.663G>A	NP_112205.2:p.Trp221Ter	NC_000014.8:g.103395776G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.683_730del48 (p.Gln228_Leu243del)	81693	AMN	Likely pathogenic	386834175	RCV000050170;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395796	103395843	NM_030943.3:c.683_730del48	NP_112205.2:p.Gln228_Leu243del	NC_000014.8:g.103395796_103395843del48	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.701G>T (p.Cys234Phe)	81693	AMN	Likely pathogenic	386834176	RCV000050171;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395814	103395814	NM_030943.3:c.701G>T	NP_112205.2:p.Cys234Phe	NC_000014.8:g.103395814G>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.742C>T (p.Gln248Ter)	81693	AMN	Likely pathogenic	386834177	RCV000050172;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395855	103395855	NM_030943.3:c.742C>T	NP_112205.2:p.Gln248Ter	NC_000014.8:g.103395855C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.761G>A (p.Gly254Glu)	81693	AMN	Likely pathogenic	386834178	RCV000050173;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103395992	103395992	NM_030943.3:c.761G>A	NP_112205.2:p.Gly254Glu	NC_000014.8:g.103395992G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.974_977dupCCCG (p.Ala327Profs)	81693	AMN	Likely pathogenic	386834179	RCV000050174;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396391	103396394	NM_030943.3:c.974_977dupCCCG	NP_112205.2:p.Ala327Profs	NC_000014.8:g.103396391_103396394dupCCCG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1006+16_1006+30del	81693	AMN	Likely pathogenic	386834160	RCV000050154;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396439	103396453	NM_030943.3:c.1006+16_1006+30del		NC_000014.8:g.103396439_103396453delCCATCCCGCCCCGCC	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1006+34_1006+48del	81693	AMN	Likely pathogenic	386834161	RCV000050155;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396457	103396471	NM_030943.3:c.1006+34_1006+48del		NC_000014.8:g.103396457_103396471delCCTCGCCCCGCCGCG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1006+36_1006+50del	81693	AMN	Likely pathogenic	386834162	RCV000050156;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396459	103396473	NM_030943.3:c.1006+36_1006+50del		NC_000014.8:g.103396459_103396473delTCGCCCCGCCGCGGG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1014_1021delCCTCGGCG (p.Leu339Profs)	81693	AMN	Likely pathogenic	386834163	RCV000050157;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396509	103396516	NM_030943.3:c.1014_1021delCCTCGGCG	NP_112205.2:p.Leu339Profs	NC_000014.8:g.103396509_103396516delCCTCGGCG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1170-6C>T	81693	AMN	Likely pathogenic	386834164	RCV000050158;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396737	103396737	NM_030943.3:c.1170-6C>T		NC_000014.8:g.103396737C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1253dupA (p.Leu419Alafs)	81693	AMN	Likely pathogenic	386834165	RCV000050159;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396826	103396826	NM_030943.3:c.1253dupA	NP_112205.2:p.Leu419Alafs	NC_000014.8:g.103396826dupA	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1257+10C>T	81693	AMN	Likely pathogenic	386834166	RCV000050160;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396840	103396840	NM_030943.3:c.1257+10C>T		NC_000014.8:g.103396840C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_030943.3(AMN):c.1314_1315delCA (p.His438Glnfs)	81693	AMN	Likely pathogenic	386834167	RCV000050161;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	14	103396969	103396970	NM_030943.3:c.1314_1315delCA	NP_112205.2:p.His438Glnfs	NC_000014.8:g.103396969_103396970delCA	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.6928_6934delGAGGTTA (p.Glu2310Cysfs)	8029	CUBN	Pathogenic	757649673	RCV000169656;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	16960687	16960693	NM_001081.3:c.6928_6934delGAGGTTA	NP_001072.2:p.Glu2310Cysfs	NC_000010.10:g.16960687_16960693delTAACCTC	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser)	8029	CUBN	Likely pathogenic	386833787	RCV000049752;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17061832	17061832	NM_001081.3:c.4168G>A	NP_001072.2:p.Gly1390Ser	NC_000010.10:g.17061832C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg)	8029	CUBN	Likely pathogenic	386833786	RCV000049751;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17061885	17061885	NM_001081.3:c.4115C>G	NP_001072.2:p.Thr1372Arg	NC_000010.10:g.17061885G>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter)	8029	CUBN	Likely pathogenic	386833785	RCV000049750;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17083050	17083050	NM_001081.3:c.3999C>A	NP_001072.2:p.Cys1333Ter	NC_000010.10:g.17083050G>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)	8029	CUBN	Likely pathogenic;Pathogenic	121434430	RCV000049749; RCV000007077;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000; MedGen:C4016819	10	17083159	17083159	NM_001081.3:c.3890C>T	NP_001072.2:p.Pro1297Leu	NC_000010.10:g.17083159G>A	OMIM Allelic Variant:602997.0001	C4016819 Megaloblastic anemia 1, Finnish type; C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe)	8029	CUBN	Likely pathogenic	386833784	RCV000049748;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17085906	17085906	NM_001081.3:c.3749C>T	NP_001072.2:p.Ser1250Phe	NC_000010.10:g.17085906G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly)	8029	CUBN	Likely pathogenic	386833783	RCV000049747;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17087101	17087101	NM_001081.3:c.3577T>G	NP_001072.2:p.Trp1193Gly	NC_000010.10:g.17087101A>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3330-439C>G	8029	CUBN	Likely pathogenic	386833782	RCV000050203;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17088532	17088532	NM_001081.3:c.3330-439C>G		NC_000010.10:g.17088532G>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3096delT (p.Tyr1032Terfs)	8029	CUBN	Likely pathogenic	386833781	RCV000049746;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17107550	17107550	NM_001081.3:c.3096delT	NP_001072.2:p.Tyr1032Terfs	NC_000010.10:g.17107550delA	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter)	8029	CUBN	Likely pathogenic	386833780	RCV000049745;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17107590	17107590	NM_001081.3:c.3056C>G	NP_001072.2:p.Ser1019Ter	NC_000010.10:g.17107590G>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter)	8029	CUBN	Likely pathogenic	386833779	RCV000049744;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17110122	17110122	NM_001081.3:c.2949C>A	NP_001072.2:p.Tyr983Ter	NC_000010.10:g.17110122G>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter)	8029	CUBN	Likely pathogenic	386833778	RCV000049743;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17110722	17110722	NM_001081.3:c.2673C>A	NP_001072.2:p.Cys891Ter	NC_000010.10:g.17110722G>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.2614_2615delGA (p.Asp872Leufs)	8029	CUBN	Likely pathogenic	386833777	RCV000049742;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17113435	17113436	NM_001081.3:c.2614_2615delGA	NP_001072.2:p.Asp872Leufs	NC_000010.10:g.17113435_17113436delTC	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.2515_2533del19 (p.Glu839Profs)	8029	CUBN	Likely pathogenic	386833775	RCV000049740;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17113517	17113535	NM_001081.3:c.2515_2533del19	NP_001072.2:p.Glu839Profs	NC_000010.10:g.17113517_17113535del19	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu)	8029	CUBN	Likely pathogenic	386833773	RCV000049738;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17113564	17113564	NM_001081.3:c.2486C>T	NP_001072.2:p.Ser829Leu	NC_000010.10:g.17113564G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.2068A>G (p.Ile690Val)	8029	CUBN	Likely pathogenic	386833772	RCV000049737;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17127638	17127638	NM_001081.3:c.2068A>G	NP_001072.2:p.Ile690Val	NC_000010.10:g.17127638T>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter)	8029	CUBN	Likely pathogenic	182512508	RCV000049736;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17127755	17127755	NM_001081.3:c.1951C>T	NP_001072.2:p.Arg651Ter	NC_000010.10:g.17127755G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1865delC (p.Thr622Ilefs)	8029	CUBN	Likely pathogenic	386833771	RCV000049735;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17130245	17130245	NM_001081.3:c.1865delC	NP_001072.2:p.Thr622Ilefs	NC_000010.10:g.17130245delG	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1838delG (p.Gly613Glufs)	8029	CUBN	Likely pathogenic	386833770	RCV000049734;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17130272	17130272	NM_001081.3:c.1838delG	NP_001072.2:p.Gly613Glufs	NC_000010.10:g.17130272delC	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1530G>A (p.Lys510=)	8029	CUBN	Likely pathogenic	386833769	RCV000049733;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17145124	17145124	NM_001081.3:c.1530G>A	NP_001072.2:p.Lys510=	NC_000010.10:g.17145124C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1526delG (p.Gly509Glufs)	8029	CUBN	Likely pathogenic	386833768	RCV000049732;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17145128	17145128	NM_001081.3:c.1526delG	NP_001072.2:p.Gly509Glufs	NC_000010.10:g.17145128delC	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter)	8029	CUBN	Likely pathogenic	386833767	RCV000049731;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17145218	17145218	NM_001081.3:c.1436C>G	NP_001072.2:p.Ser479Ter	NC_000010.10:g.17145218G>C	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1230+1G>A	8029	CUBN	Likely pathogenic	386833766	RCV000049730;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17147455	17147455	NM_001081.3:c.1230+1G>A		NC_000010.10:g.17147455C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter)	8029	CUBN	not provided	561240556	RCV000190383;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17152933	17152933	NM_001081.3:c.1000C>T	NP_001072.2:p.Gln334Ter	NC_000010.10:g.17152933G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.889C>T (p.Gln297Ter)	8029	CUBN	Likely pathogenic	386833791	RCV000049756;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17153044	17153044	NM_001081.3:c.889C>T	NP_001072.2:p.Gln297Ter	NC_000010.10:g.17153044G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.673T>A (p.Cys225Ser)	8029	CUBN	Likely pathogenic	386833790	RCV000049755;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17157517	17157517	NM_001081.3:c.673T>A	NP_001072.2:p.Cys225Ser	NC_000010.10:g.17157517A>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.489G>A (p.Lys163=)	8029	CUBN	Likely pathogenic	386833789	RCV000049754;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17165587	17165587	NM_001081.3:c.489G>A	NP_001072.2:p.Lys163=	NC_000010.10:g.17165587C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.434G>A (p.Gly145Glu)	8029	CUBN	Likely pathogenic	386833788	RCV000049753;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17165642	17165642	NM_001081.3:c.434G>A	NP_001072.2:p.Gly145Glu	NC_000010.10:g.17165642C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.252+1G>A	8029	CUBN	Likely pathogenic	386833776	RCV000049741;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17171119	17171119	NM_001081.3:c.252+1G>A		NC_000010.10:g.17171119C>T	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism
NM_001081.3(CUBN):c.250C>T (p.Gln84Ter)	8029	CUBN	Likely pathogenic	386833774	RCV000049739;	N	MedGen:C1306856,OMIM:261100,ORPHA:35858,SNOMED CT:34925000	10	17171122	17171122	NM_001081.3:c.250C>T	NP_001072.2:p.Gln84Ter	NC_000010.10:g.17171122G>A	-	C1306856 261100 Megaloblastic anemia due to inborn errors of metabolism