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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

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

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
..Starting node ..Hyperglycinemia, Nonketotic (D020158)
Child Nodes:
........Hyperglycinemia, Transient Neonatal (C562672)
Sister Nodes:
..2-Hydroxyglutaricaciduria (C535306)
..Cerebral Amyloid Angiopathy, Familial (D028243) 2
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Ethylmalonic encephalopathy (C535737)
..Galactosemias (D005693)
..Hartnup Disease (D006250)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Homocarnosinosis (C535328)
..Homocystinuria (D006712) 5
..Hyperglycinemia, Nonketotic (D020158) 1
..Hyperlysinemias (D020167) 3
..Leigh Disease (D007888) 12
..Lesch-Nyhan Syndrome (D007926) 1
..Lysosomal Storage Diseases, Nervous System (D020140) 70
..Maple Syrup Urine Disease (D008375) 5
..MELAS Syndrome (D017241) 1
..Menkes Kinky Hair Syndrome (D007706) 1
..MERRF Syndrome (D017243)
..Microphthalmia and mental deficiency (C537462)
..Oculocerebrorenal Syndrome (D009800) 1
..Peroxisomal Disorders (D018901) 39
..Phenylketonurias (D010661) 8
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Silengo Lerone Pelizza syndrome (C537336)
..Tricarboxylic Acid Cycle, Defect of (C564762)
..Tyrosinemias (D020176) 1
..Urea Cycle Disorders, Inborn (D056806) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5377

Name:

Hyperglycinemia, Nonketotic

Definition:

An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.

Alternative IDs:

OMIM:605899

ParentIDs:

MESH:D000592|MESH:D020739

TreeNumbers:

C10.228.140.163.100.375 |C16.320.565.100.477 |C16.320.565.189.375 |C18.452.132.100.375 |C18.452.648.100.477 |C18.452.648.189.375

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D020158
MeSH: D020158
OMIM: 605899;

Genes: AMT; GCSH; GLDC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0000718	Aggressive behavior
4	HP:0001522	Death in infancy
5	HP:0001298	Encephalopathy
6	HP:0001290	Generalized hypotonia
7	HP:0000752	Hyperactivity
8	HP:0002154	Hyperglycinemia
9	HP:0003108	Hyperglycinuria
10	HP:0001347	Hyperreflexia
11	HP:0001252	Hypotonia
12	HP:0100710	Impulsivity
13	HP:0001249	Intellectual disability
14	HP:0000737	Irritability
15	HP:0001254	Lethargy
16	HP:0001336	Myoclonus
17	HP:0100247	Recurrent singultus
18	HP:0000711	Restlessness
19	HP:0001250	Seizure

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_000481.3(AMT):c.63delC (p.Leu22Cysfs)	-1	-	Likely pathogenic	386833688	RCV000049649;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459821	49459821	NM_000481.3:c.63delC	NP_000472.2:p.Leu22Cysfs	NC_000003.11:g.49459821delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.61delG (p.Ala21Profs)	-1	-	Likely pathogenic	386833687	RCV000049648;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459823	49459823	NM_000481.3:c.61delG	NP_000472.2:p.Ala21Profs	NC_000003.11:g.49459823delC	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.59delC (p.Pro20Argfs)	-1	-	Likely pathogenic	386833686	RCV000049647;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459825	49459825	NM_000481.3:c.59delC	NP_000472.2:p.Pro20Argfs	NC_000003.11:g.49459825delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.-55C>T	-1	-	Likely pathogenic	386833677	RCV000049637;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459938	49459938	NM_000481.3:c.-55C>T		NC_000003.11:g.49459938G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.982_983delGCinsT (p.Ala328Serfs)	275	AMT	Likely pathogenic	386833692	RCV000049653;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49455301	49455302	NM_000481.3:c.982_983delGCinsT	NP_000472.2:p.Ala328Serfs	NC_000003.11:g.49455301_49455302delGCinsA	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.970_972delATG (p.Met324del)	275	AMT	Likely pathogenic	386833691	RCV000049652;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49455312	49455314	NM_000481.3:c.970_972delATG	NP_000472.2:p.Met324del	NC_000003.11:g.49455312_49455314delCAT	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.959G>A (p.Arg320His)	275	AMT	Pathogenic	121964985	RCV000012759;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49455325	49455325	NM_000481.3:c.959G>A	NP_000472.2:p.Arg320His	NC_000003.11:g.49455325C>T	OMIM Allelic Variant:238310.0006	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.887G>A (p.Arg296His)	275	AMT	Likely pathogenic	386833690	RCV000049651;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49455397	49455397	NM_000481.3:c.887G>A	NP_000472.2:p.Arg296His	NC_000003.11:g.49455397C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.878-1G>A	275	AMT	Pathogenic	181134220	RCV000012761;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49455407	49455407	NM_000481.3:c.878-1G>A		NC_000003.11:g.49455407C>T	OMIM Allelic Variant:238310.0008	C0751748 605899 Non-ketotic hyperglycinemia
NM_001164712.1(AMT):c.870G>A (p.Trp290Ter)	275	AMT	Pathogenic	797045082	RCV000190566;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49456411	49456411	NM_001164712.1:c.870G>A	NP_001158184.1:p.Trp290Ter	NC_000003.11:g.49456411C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.826G>C (p.Asp276His)	275	AMT	Pathogenic	121964984	RCV000012758;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49456455	49456455	NM_000481.3:c.826G>C	NP_000472.2:p.Asp276His	NC_000003.11:g.49456455C>G	OMIM Allelic Variant:238310.0005	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.806G>A (p.Gly269Asp)	275	AMT	Pathogenic	121964981	RCV000012754;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49456475	49456475	NM_000481.3:c.806G>A	NP_000472.2:p.Gly269Asp	NC_000003.11:g.49456475C>T	OMIM Allelic Variant:238310.0001	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.674A>G (p.Tyr225Cys)	275	AMT	Likely pathogenic	386833689	RCV000049650;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49456715	49456715	NM_000481.3:c.674A>G	NP_000472.2:p.Tyr225Cys	NC_000003.11:g.49456715T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.574C>T (p.Gln192Ter)	275	AMT	Pathogenic	121964986	RCV000012760;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49456815	49456815	NM_000481.3:c.574C>T	NP_000472.2:p.Gln192Ter	NC_000003.11:g.49456815G>A	OMIM Allelic Variant:238310.0007	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.535delC (p.Leu179Cysfs)	275	AMT	Likely pathogenic	386833685	RCV000049646;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49457158	49457158	NM_000481.3:c.535delC	NP_000472.2:p.Leu179Cysfs	NC_000003.11:g.49457158delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.471+2T>C	275	AMT	Likely pathogenic	386833684	RCV000049645;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49457642	49457642	NM_000481.3:c.471+2T>C		NC_000003.11:g.49457642A>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.452_466delAAGATTTGGCCCTCA (p.Lys151_Leu155del)	275	AMT	Likely pathogenic	386833683	RCV000049644;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49457649	49457663	NM_000481.3:c.452_466delAAGATTTGGCCCTCA	NP_000472.2:p.Lys151_Leu155del	NC_000003.11:g.49457649_49457663delTGAGGGCCAAATCTT	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.434A>T (p.Asn145Ile)	275	AMT	Likely pathogenic	386833682	RCV000049643;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49457681	49457681	NM_000481.3:c.434A>T	NP_000472.2:p.Asn145Ile	NC_000003.11:g.49457681T>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.259-1G>C	275	AMT	Likely pathogenic	386833681	RCV000049642;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459006	49459006	NM_000481.3:c.259-1G>C		NC_000003.11:g.49459006C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.230C>T (p.Ser77Leu)	275	AMT	Likely pathogenic	386833680	RCV000049641;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459565	49459565	NM_000481.3:c.230C>T	NP_000472.2:p.Ser77Leu	NC_000003.11:g.49459565G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.217C>T (p.Arg73Cys)	275	AMT	Likely pathogenic	386833679	RCV000049640;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459578	49459578	NM_000481.3:c.217C>T	NP_000472.2:p.Arg73Cys	NC_000003.11:g.49459578G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.148delG (p.Val50Trpfs)	275	AMT	Likely pathogenic	386833678	RCV000049639;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459647	49459647	NM_000481.3:c.148delG	NP_000472.2:p.Val50Trpfs	NC_000003.11:g.49459647delC	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.139G>A (p.Gly47Arg)	275	AMT	Pathogenic	121964982	RCV000012755;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459656	49459656	NM_000481.3:c.139G>A	NP_000472.2:p.Gly47Arg	NC_000003.11:g.49459656C>A,NC_000003.11:g.49459656C>T	OMIM Allelic Variant:238310.0002	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.139G>T (p.Gly47Trp)	275	AMT	Likely pathogenic	121964982	RCV000049638;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459656	49459656	NM_000481.3:c.139G>T	NP_000472.2:p.Gly47Trp	NC_000003.11:g.49459656C>A,NC_000003.11:g.49459656C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000481.3(AMT):c.125A>G (p.His42Arg)	275	AMT	Pathogenic	121964983	RCV000012756;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	3	49459670	49459670	NM_000481.3:c.125A>G	NP_000472.2:p.His42Arg	NC_000003.11:g.49459670T>C	OMIM Allelic Variant:238310.0003	C0751748 605899 Non-ketotic hyperglycinemia
NM_004483.4(GCSH):c.425-1G>T	2653	GCSH	Likely pathogenic	386833859	RCV000049828;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	16	81116569	81116569	NM_004483.4:c.425-1G>T		NC_000016.9:g.81116569C>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2919+1G>A	2731	GLDC	Likely pathogenic	386833575	RCV000049502;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6534707	6534707	NM_000170.2:c.2919+1G>A		NC_000009.11:g.6534707C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2896A>G (p.Arg966Gly)	2731	GLDC	Likely pathogenic	386833573	RCV000049500;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6534731	6534731	NM_000170.2:c.2896A>G	NP_000161.2:p.Arg966Gly	NC_000009.11:g.6534731T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2891dupA (p.Tyr964Terfs)	2731	GLDC	Likely pathogenic	386833572	RCV000049583;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6534736	6534736	NM_000170.2:c.2891dupA	NP_000161.2:p.Tyr964Terfs	NC_000009.11:g.6534736dupT	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2869T>C (p.Ser957Pro)	2731	GLDC	Likely pathogenic	386833571	RCV000049499;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6534758	6534758	NM_000170.2:c.2869T>C	NP_000161.2:p.Ser957Pro	NC_000009.11:g.6534758A>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2846C>T (p.Pro949Leu)	2731	GLDC	Likely pathogenic	386833570	RCV000049498;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6534781	6534781	NM_000170.2:c.2846C>T	NP_000161.2:p.Pro949Leu	NC_000009.11:g.6534781G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2839-1G>C	2731	GLDC	Likely pathogenic	386833569	RCV000049497;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6534789	6534789	NM_000170.2:c.2839-1G>C		NC_000009.11:g.6534789C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2838+5G>A	2731	GLDC	Likely pathogenic	386833568	RCV000049496;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6536059	6536059	NM_000170.2:c.2838+5G>A		NC_000009.11:g.6536059C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2656C>T (p.Gln886Ter)	2731	GLDC	Likely pathogenic	386833567	RCV000049495;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6540060	6540060	NM_000170.2:c.2656C>T	NP_000161.2:p.Gln886Ter	NC_000009.11:g.6540060G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2639A>T (p.Asp880Val)	2731	GLDC	Likely pathogenic	386833566	RCV000049494;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6540077	6540077	NM_000170.2:c.2639A>T	NP_000161.2:p.Asp880Val	NC_000009.11:g.6540077T>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2607C>A (p.Pro869=)	2731	GLDC	Likely pathogenic	386833565	RCV000049493;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6540109	6540109	NM_000170.2:c.2607C>A	NP_000161.2:p.Pro869=	NC_000009.11:g.6540109G>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2574T>G (p.Tyr858Ter)	2731	GLDC	Likely pathogenic	386833564	RCV000049492;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6540142	6540142	NM_000170.2:c.2574T>G	NP_000161.2:p.Tyr858Ter	NC_000009.11:g.6540142A>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro)	2731	GLDC	Likely pathogenic	386833562	RCV000049490;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6550851	6550851	NM_000170.2:c.2521G>C	NP_000161.2:p.Ala841Pro	NC_000009.11:g.6550851C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys)	2731	GLDC	Likely pathogenic	386833561	RCV000049489;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6550853	6550853	NM_000170.2:c.2519T>A	NP_000161.2:p.Met840Lys	NC_000009.11:g.6550853A>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met)	2731	GLDC	Likely pathogenic	386833560	RCV000049488;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6550883	6550883	NM_000170.2:c.2489C>T	NP_000161.2:p.Thr830Met	NC_000009.11:g.6550883G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2422delA (p.Ser808Valfs)	2731	GLDC	Likely pathogenic	386833558	RCV000049486;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6553403	6553403	NM_000170.2:c.2422delA	NP_000161.2:p.Ser808Valfs	NC_000009.11:g.6553403delT	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2414G>A (p.Trp805Ter)	2731	GLDC	Likely pathogenic	386833557	RCV000049485;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6553411	6553411	NM_000170.2:c.2414G>A	NP_000161.2:p.Trp805Ter	NC_000009.11:g.6553411C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val)	2731	GLDC	Pathogenic	121964977	RCV000012767;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6553420	6553420	NM_000170.2:c.2405C>T	NP_000161.2:p.Ala802Val	NC_000009.11:g.6553420G>A	OMIM Allelic Variant:238300.0006	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp)	2731	GLDC	Likely pathogenic	386833556	RCV000049484;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6553457	6553457	NM_000170.2:c.2368C>T	NP_000161.2:p.Arg790Trp	NC_000009.11:g.6553457G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2324A>G (p.His775Arg)	2731	GLDC	Likely pathogenic	386833555	RCV000049483;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6553501	6553501	NM_000170.2:c.2324A>G	NP_000161.2:p.His775Arg	NC_000009.11:g.6553501T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2316-1G>A	2731	GLDC	Likely pathogenic	386833554	RCV000049482;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6553510	6553510	NM_000170.2:c.2316-1G>A		NC_000009.11:g.6553510C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg)	2731	GLDC	Likely pathogenic	386833553	RCV000049481;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554673	6554673	NM_000170.2:c.2311G>A	NP_000161.2:p.Gly771Arg	NC_000009.11:g.6554673C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2306C>T (p.Pro769Leu)	2731	GLDC	Likely pathogenic	386833552	RCV000049480;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554678	6554678	NM_000170.2:c.2306C>T	NP_000161.2:p.Pro769Leu	NC_000009.11:g.6554678G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser)	2731	GLDC	Likely pathogenic	386833551	RCV000049479;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554691	6554691	NM_000170.2:c.2293C>T	NP_000161.2:p.Pro765Ser	NC_000009.11:g.6554691G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg)	2731	GLDC	Likely pathogenic;Pathogenic	386833550	RCV000049478;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554700	6554700	NM_000170.2:c.2284G>A	NP_000161.2:p.Gly762Arg	NC_000009.11:g.6554700C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg)	2731	GLDC	Pathogenic	386833549	RCV000012766;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554703	6554703	NM_000170.2:c.2281G>C	NP_000161.2:p.Gly761Arg	NC_000009.11:g.6554703C>G	OMIM Allelic Variant:238300.0005	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del)	2731	GLDC	Likely pathogenic;Pathogenic	121964975	RCV000049476;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554715	6554717	NM_000170.2:c.2267_2269delTCT	NP_000161.2:p.Phe756del	NC_000009.11:g.6554715_6554717delAGA	OMIM Allelic Variant:238300.0002	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2258A>C (p.His753Pro)	2731	GLDC	Likely pathogenic	386833547	RCV000049475;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554726	6554726	NM_000170.2:c.2258A>C	NP_000161.2:p.His753Pro	NC_000009.11:g.6554726T>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2216G>A (p.Arg739His)	2731	GLDC	Pathogenic	121964980	RCV000012770;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554768	6554768	NM_000170.2:c.2216G>A	NP_000161.2:p.Arg739His	NC_000009.11:g.6554768C>T	OMIM Allelic Variant:238300.0009	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2213_2214delGT (p.Cys738Serfs)	2731	GLDC	Likely pathogenic	386833546	RCV000049474;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554770	6554771	NM_000170.2:c.2213_2214delGT	NP_000161.2:p.Cys738Serfs	NC_000009.11:g.6554770_6554771delAC	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2203-2A>G	2731	GLDC	Likely pathogenic	386833545	RCV000049473;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6554783	6554783	NM_000170.2:c.2203-2A>G		NC_000009.11:g.6554783T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2196T>A (p.Asn732Lys)	2731	GLDC	Likely pathogenic	386833544	RCV000049472;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556159	6556159	NM_000170.2:c.2196T>A	NP_000161.2:p.Asn732Lys	NC_000009.11:g.6556159A>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2186delC (p.Ala729Glufs)	2731	GLDC	Likely pathogenic	386833543	RCV000049471;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556169	6556169	NM_000170.2:c.2186delC	NP_000161.2:p.Ala729Glufs	NC_000009.11:g.6556169delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2182G>C (p.Gly728Arg)	2731	GLDC	Likely pathogenic	386833542	RCV000049470;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556173	6556173	NM_000170.2:c.2182G>C	NP_000161.2:p.Gly728Arg	NC_000009.11:g.6556173C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2153_2155delATCinsTCCTGGTTTA (p.His718Leufs)	2731	GLDC	Likely pathogenic	386833541	RCV000049469;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556200	6556202	NM_000170.2:c.2153_2155delATCinsTCCTGGTTTA	NP_000161.2:p.His718Leufs	NC_000009.11:g.6556200_6556202delGATinsTAAACCAGGA	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2105C>T (p.Thr702Ile)	2731	GLDC	Likely pathogenic	386833540	RCV000049468;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556250	6556250	NM_000170.2:c.2105C>T	NP_000161.2:p.Thr702Ile	NC_000009.11:g.6556250G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2098C>G (p.Pro700Ala)	2731	GLDC	Likely pathogenic	386833539	RCV000049467;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556257	6556257	NM_000170.2:c.2098C>G	NP_000161.2:p.Pro700Ala	NC_000009.11:g.6556257G>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2080G>C (p.Ala694Pro)	2731	GLDC	Likely pathogenic	386833538	RCV000049466;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6556275	6556275	NM_000170.2:c.2080G>C	NP_000161.2:p.Ala694Pro	NC_000009.11:g.6556275C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1996C>T (p.Gln666Ter)	2731	GLDC	Likely pathogenic	386833537	RCV000049465;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6558615	6558615	NM_000170.2:c.1996C>T	NP_000161.2:p.Gln666Ter	NC_000009.11:g.6558615G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1952A>G (p.His651Arg)	2731	GLDC	Likely pathogenic	386833536	RCV000049464;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6558659	6558659	NM_000170.2:c.1952A>G	NP_000161.2:p.His651Arg	NC_000009.11:g.6558659T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1931G>T (p.Cys644Phe)	2731	GLDC	Likely pathogenic	386833535	RCV000049463;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6558680	6558680	NM_000170.2:c.1931G>T	NP_000161.2:p.Cys644Phe	NC_000009.11:g.6558680C>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1926+1G>A	2731	GLDC	Likely pathogenic	386833534	RCV000049462;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6565353	6565353	NM_000170.2:c.1926+1G>A		NC_000009.11:g.6565353C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1822_1832delTATGACCAGGT (p.Tyr608Leufs)	2731	GLDC	Likely pathogenic	386833532	RCV000049460;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6587159	6587169	NM_000170.2:c.1822_1832delTATGACCAGGT	NP_000161.2:p.Tyr608Leufs	NC_000009.11:g.6587159_6587169delACCTGGTCATA	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1832T>G (p.Val611Gly)	2731	GLDC	Likely pathogenic	386833533	RCV000049461;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6587159	6587159	NM_000170.2:c.1832T>G	NP_000161.2:p.Val611Gly	NC_000009.11:g.6587159A>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter)	2731	GLDC	Likely pathogenic	386833531	RCV000049459;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6587205	6587205	NM_000170.2:c.1786C>T	NP_000161.2:p.Arg596Ter	NC_000009.11:g.6587205G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1742C>G (p.Pro581Arg)	2731	GLDC	Likely pathogenic	772871471	RCV000198720;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6587249	6587249	NM_000170.2:c.1742C>G	NP_000161.2:p.Pro581Arg	NC_000009.11:g.6587249G>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile)	2731	GLDC	Pathogenic	121964974	RCV000012762;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6588417	6588417	NM_000170.2:c.1691G>T	NP_000161.2:p.Ser564Ile	NC_000009.11:g.6588417C>A	OMIM Allelic Variant:238300.0001	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1654A>G (p.Met552Val)	2731	GLDC	Likely pathogenic	386833529	RCV000049457;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6588629	6588629	NM_000170.2:c.1654A>G	NP_000161.2:p.Met552Val	NC_000009.11:g.6588629T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1597A>T (p.Asn533Tyr)	2731	GLDC	Likely pathogenic	386833528	RCV000049456;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6588686	6588686	NM_000170.2:c.1597A>T	NP_000161.2:p.Asn533Tyr	NC_000009.11:g.6588686T>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1595C>G (p.Thr532Arg)	2731	GLDC	Likely pathogenic	386833527	RCV000049455;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6588688	6588688	NM_000170.2:c.1595C>G	NP_000161.2:p.Thr532Arg	NC_000009.11:g.6588688G>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser)	2731	GLDC	Pathogenic	121964976	RCV000012765;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6589230	6589230	NM_000170.2:c.1545G>C	NP_000161.2:p.Arg515Ser	NC_000009.11:g.6589230C>G	OMIM Allelic Variant:238300.0004	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1444dupG (p.Asp482Glyfs)	2731	GLDC	Likely pathogenic	386833526	RCV000049454;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6592181	6592181	NM_000170.2:c.1444dupG	NP_000161.2:p.Asp482Glyfs	NC_000009.11:g.6592181dupC	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1402-1G>C	2731	GLDC	Likely pathogenic	386833525	RCV000049453;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6592224	6592224	NM_000170.2:c.1402-1G>C		NC_000009.11:g.6592224C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln)	2731	GLDC	Likely pathogenic	386833524	RCV000049452;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6592870	6592870	NM_000170.2:c.1382G>A	NP_000161.2:p.Arg461Gln	NC_000009.11:g.6592870C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1319T>A (p.Ile440Asn)	2731	GLDC	Likely pathogenic	386833523	RCV000049451;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6592933	6592933	NM_000170.2:c.1319T>A	NP_000161.2:p.Ile440Asn	NC_000009.11:g.6592933A>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1285_1286insCAAA (p.Leu429Profs)	2731	GLDC	Likely pathogenic	386833522	RCV000049450;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6592966	6592967	NM_000170.2:c.1285_1286insCAAA	NP_000161.2:p.Leu429Profs	NC_000009.11:g.6592966_6592967insTTTG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter)	2731	GLDC	Likely pathogenic	386833521	RCV000049449;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6592982	6592982	NM_000170.2:c.1270C>T	NP_000161.2:p.Arg424Ter	NC_000009.11:g.6592982G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1175delC (p.Ala392Valfs)	2731	GLDC	Likely pathogenic	386833520	RCV000049448;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6595100	6595100	NM_000170.2:c.1175delC	NP_000161.2:p.Ala392Valfs	NC_000009.11:g.6595100delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val)	2731	GLDC	Pathogenic	121964979	RCV000012769;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6595109	6595109	NM_000170.2:c.1166C>T	NP_000161.2:p.Ala389Val	NC_000009.11:g.6595109G>A	OMIM Allelic Variant:238300.0008	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1111C>G (p.His371Asp)	2731	GLDC	Likely pathogenic	386833519	RCV000049447;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6602153	6602153	NM_000170.2:c.1111C>G	NP_000161.2:p.His371Asp	NC_000009.11:g.6602153G>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs)	2731	GLDC	Likely pathogenic	386833518	RCV000049446;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6604592	6604592	NM_000170.2:c.1054delA	NP_000161.2:p.Thr352Glnfs	NC_000009.11:g.6604592delT	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter)	2731	GLDC	Likely pathogenic	386833517	RCV000049445;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6604637	6604637	NM_000170.2:c.1009C>T	NP_000161.2:p.Arg337Ter	NC_000009.11:g.6604637G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.1002dupT (p.Ala335Cysfs)	2731	GLDC	Likely pathogenic	386833516	RCV000049444;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6604644	6604644	NM_000170.2:c.1002dupT	NP_000161.2:p.Ala335Cysfs	NC_000009.11:g.6604644dupA	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.985C>A (p.Pro329Thr)	2731	GLDC	Likely pathogenic	386833593	RCV000049519;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6604661	6604661	NM_000170.2:c.985C>A	NP_000161.2:p.Pro329Thr	NC_000009.11:g.6604661G>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.937G>C (p.Ala313Pro)	2731	GLDC	Likely pathogenic	386833592	RCV000049518;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6604709	6604709	NM_000170.2:c.937G>C	NP_000161.2:p.Ala313Pro	NC_000009.11:g.6604709C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.887T>G (p.Leu296Arg)	2731	GLDC	Likely pathogenic	386833591	RCV000049517;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6604759	6604759	NM_000170.2:c.887T>G	NP_000161.2:p.Leu296Arg	NC_000009.11:g.6604759A>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.861+1G>T	2731	GLDC	Likely pathogenic	386833590	RCV000049516;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6605130	6605130	NM_000170.2:c.861+1G>T		NC_000009.11:g.6605130C>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro)	2731	GLDC	Likely pathogenic	386833589	RCV000049515;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6605145	6605145	NM_000170.2:c.847G>C	NP_000161.2:p.Ala283Pro	NC_000009.11:g.6605145C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.808G>T (p.Glu270Ter)	2731	GLDC	Likely pathogenic	386833588	RCV000049514;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6605184	6605184	NM_000170.2:c.808G>T	NP_000161.2:p.Glu270Ter	NC_000009.11:g.6605184C>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.806C>T (p.Thr269Met)	2731	GLDC	Likely pathogenic	386833587	RCV000049513;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6605186	6605186	NM_000170.2:c.806C>T	NP_000161.2:p.Thr269Met	NC_000009.11:g.6605186G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.793delC (p.Gln265Serfs)	2731	GLDC	Likely pathogenic	386833586	RCV000049512;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6605199	6605199	NM_000170.2:c.793delC	NP_000161.2:p.Gln265Serfs	NC_000009.11:g.6605199delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.706C>T (p.Arg236Ter)	2731	GLDC	Likely pathogenic	386833585	RCV000049511;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6606599	6606599	NM_000170.2:c.706C>T	NP_000161.2:p.Arg236Ter	NC_000009.11:g.6606599G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.635G>A (p.Arg212Lys)	2731	GLDC	Likely pathogenic	386833584	RCV000049584;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6610192	6610192	NM_000170.2:c.635G>A	NP_000161.2:p.Arg212Lys	NC_000009.11:g.6610192C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.605C>T (p.Ala202Val)	2731	GLDC	Likely pathogenic	386833583	RCV000049510;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6610222	6610222	NM_000170.2:c.605C>T	NP_000161.2:p.Ala202Val	NC_000009.11:g.6610222G>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.560C>A (p.Thr187Lys)	2731	GLDC	Likely pathogenic	386833582	RCV000049509;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6610267	6610267	NM_000170.2:c.560C>A	NP_000161.2:p.Thr187Lys	NC_000009.11:g.6610267G>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.513G>C (p.Gly171=)	2731	GLDC	Likely pathogenic	386833581	RCV000049508;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6610314	6610314	NM_000170.2:c.513G>C	NP_000161.2:p.Gly171=	NC_000009.11:g.6610314C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys)	2731	GLDC	Likely pathogenic	386833580	RCV000049507;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6610345	6610345	NM_000170.2:c.482A>G	NP_000161.2:p.Tyr161Cys	NC_000009.11:g.6610345T>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.457G>T (p.Glu153Ter)	2731	GLDC	Likely pathogenic	386833579	RCV000049506;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6620197	6620197	NM_000170.2:c.457G>T	NP_000161.2:p.Glu153Ter	NC_000009.11:g.6620197C>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.449A>C (p.Asn150Thr)	2731	GLDC	Likely pathogenic	386833578	RCV000049505;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6620205	6620205	NM_000170.2:c.449A>C	NP_000161.2:p.Asn150Thr	NC_000009.11:g.6620205T>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.413A>T (p.Tyr138Phe)	2731	GLDC	Likely pathogenic	386833577	RCV000049504;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6620241	6620241	NM_000170.2:c.413A>T	NP_000161.2:p.Tyr138Phe	NC_000009.11:g.6620241T>A	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.395C>G (p.Ser132Trp)	2731	GLDC	Likely pathogenic	386833576	RCV000049503;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6620259	6620259	NM_000170.2:c.395C>G	NP_000161.2:p.Ser132Trp	NC_000009.11:g.6620259G>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.255+1G>A	2731	GLDC	Likely pathogenic	386833563	RCV000049491;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6645244	6645244	NM_000170.2:c.255+1G>A		NC_000009.11:g.6645244C>T	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.245T>G (p.Leu82Trp)	2731	GLDC	Likely pathogenic	386833559	RCV000049487;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6645255	6645255	NM_000170.2:c.245T>G	NP_000161.2:p.Leu82Trp	NC_000009.11:g.6645255A>C	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.176G>C (p.Arg59Thr)	2731	GLDC	Likely pathogenic	386833530	RCV000049458;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6645324	6645324	NM_000170.2:c.176G>C	NP_000161.2:p.Arg59Thr	NC_000009.11:g.6645324C>G	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.28delC (p.Leu10Cysfs)	2731	GLDC	Likely pathogenic	386833574	RCV000049501;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6645472	6645472	NM_000170.2:c.28delC	NP_000161.2:p.Leu10Cysfs	NC_000009.11:g.6645472delG	-	C0751748 605899 Non-ketotic hyperglycinemia
NM_000170.2(GLDC):c.2T>C (p.Met1Thr)	2731	GLDC	Pathogenic	121964978	RCV000012768;	N	MedGen:C0751748,OMIM:605899,ORPHA:407,SNOMED CT:237939006	9	6645498	6645498	NM_000170.2:c.2T>C	NP_000161.2:p.Met1Thr	NC_000009.11:g.6645498A>G	OMIM Allelic Variant:238300.0007	C0751748 605899 Non-ketotic hyperglycinemia