MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Gamma aminobutyric acid transaminase deficiency (C535407)
Child Nodes:
Sister Nodes:
..2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006) L: 00419;
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192) L: 00444;
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434) L: 00402;
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric Acidemia I (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1 L: 00499;
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3 C:1
..Hypermethioninemia (C564683)
..Hyperprolinemia type 2 (C538385)
..HYPERPROLINEMIA, TYPE I (OMIM:239500)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073) L: 00034;
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1 L: 00439;
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16 C:4
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4943

Name:

Gamma aminobutyric acid transaminase deficiency

Definition:

Alternative IDs:

OMIM:613163

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C535407 |C18.452.648.100/C535407

Synonyms:

4 alpha aminobutyrate transaminase deficiency |Gaba-Transaminase Deficiency |GABA transaminase deficiency |Gamma aminobutyrate transaminase deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535407
MeSH: C535407
OMIM: 613163;
MSeqDR :
Genes: ABAT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0001321	Cerebellar hypoplasia
4	HP:0003819	Death in childhood
5	HP:0000494	Downslanted palpebral fissures
6	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
7	HP:0001263	Global developmental delay NAMDC: Mental retardation
8	HP:0025430	High-pitched cry
9	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
10	HP:0001254	Lethargy
11	HP:0002415	Leukodystrophy
12	HP:0007291	Posterior fossa cyst
13	HP:0000278	Retrognathia
14	HP:0001250	Seizures NAMDC: Seizures
15	HP:0006829	Severe muscular hypotonia
16	HP:0000098	Tall stature

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_020686.5(ABAT):c.-150C>A	18	ABAT	Uncertain significance	886052387	RCV000330747;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8768460	8768460	NC_000016.9:g.8768460C>A	ClinGen:CA10649080	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.-127C>G	18	ABAT	Uncertain significance	937622924	RCV001115735;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8768483	8768483	16:g.8768483C>G	-
NM_020686.6(ABAT):c.-107G>A	18	ABAT	Uncertain significance	531589337	RCV000373857;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8768503	8768503	NC_000016.9:g.8768503G>A	ClinGen:CA10648190	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.-52G>T	18	ABAT	Uncertain significance	532269694	RCV000281701;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8768558	8768558	NC_000016.9:g.8768558G>T	ClinGen:CA10638504	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NC_000016.9:g.(?_8829577)_(8875307_?)dup	18	ABAT	Uncertain significance	-1	RCV000798813;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829577	8875307		-
NC_000016.10:g.(?_8735720)_(10180431_?)dup	18	ABAT	Uncertain significance	-1	RCV001031940;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829577	10274288	-1	-
NC_000016.9:g.(?_8829597)_(8941682_?)dup	18	ABAT	Uncertain significance	-1	RCV001344840;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8941682	-1	-
NM_020686.6(ABAT):c.1A>G (p.Met1Val)	18	ABAT	Uncertain significance	1160815812	RCV001340228;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8829597	8829597	-
NC_000016.9:g.(?_8829597)_(8829676_?)dup	18	ABAT	Uncertain significance	-1	RCV001362980;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8829676	-1	-
NC_000016.9:g.(?_8829597)_(8844416_?)dup	18	ABAT	Uncertain significance	-1	RCV001943150;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8844416	-1	-
NC_000016.9:g.(?_8829597)_(8862850_?)dup	18	ABAT	Uncertain significance	-1	RCV001956000;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8862850	-1	-
NC_000016.9:g.(?_8829597)_(8839975_?)dup	18	ABAT	Uncertain significance	-1	RCV003109726;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8839975		-
NC_000016.9:g.(?_8829597)_(8858707_?)dup	18	ABAT	Uncertain significance	-1	RCV003109727;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8858707		-
NC_000016.9:g.(?_8829597)_(8875287_?)dup	18	ABAT	Uncertain significance	-1	RCV003109729;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8875287		-
NC_000016.9:g.(?_8829597)_(8829686_?)dup	18	ABAT	Uncertain significance	-1	RCV003109730;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829597	8829686		-
NM_020686.6(ABAT):c.4dup (p.Ala2fs)	18	ABAT	Likely pathogenic	-1	RCV003466086;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829598	8829599		-
NM_020686.6(ABAT):c.13T>C (p.Leu5=)	18	ABAT	Likely benign	2058905642	RCV002185436;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829609	8829609	8829609	-
NM_020686.6(ABAT):c.14T>G (p.Leu5Trp)	18	ABAT	Uncertain significance	1346245434	RCV002042588;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829610	8829610	8829610	-
NM_020686.6(ABAT):c.18C>T (p.Leu6=)	18	ABAT	Likely benign	766349160	RCV001497103;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829614	8829614	16:g.8829614C>T	-
NM_020686.6(ABAT):c.19G>A (p.Ala7Thr)	18	ABAT	Uncertain significance	141213694	RCV001216565;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829615	8829615	16:g.8829615G>A	-
NM_020686.6(ABAT):c.22C>T (p.Gln8Ter)	18	ABAT	Likely pathogenic	-1	RCV003466085;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829618	8829618		-
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)	18	ABAT	Uncertain significance	201701679	RCV000532780\|RCV002527716;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8829621	8829621	16:g.8829621C>T	ClinGen:CA7892911	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.26G>A (p.Arg9His)	18	ABAT	Conflicting interpretations of pathogenicity	531783337	RCV000334719\|RCV003258760;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8829622	8829622	NC_000016.9:g.8829622G>A	ClinGen:CA7892913	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.30G>A (p.Leu10=)	18	ABAT	Benign/Likely benign	34813662	RCV000301375\|RCV000373048\|RCV002510835;	N	MedGen:CN169374\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8829626	8829626	16:g.8829626G>A	ClinGen:CA7892914	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu)	18	ABAT	Uncertain significance	1567293995	RCV000699527;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829638	8829638	NC_000016.9:g.8829638C>G	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu)	18	ABAT	Uncertain significance	375337638	RCV001301844;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829640	8829640	8829640	-
NM_020686.6(ABAT):c.45G>C (p.Gln15His)	18	ABAT	Uncertain significance	138270964	RCV000592784\|RCV001308466\|RCV002532561;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8829641	8829641	16:g.8829641G>C	ClinGen:CA7892917	CN169374 not specified;
NM_020686.6(ABAT):c.45G>A (p.Gln15=)	18	ABAT	Likely benign	-1	RCV002791297;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829641	8829641		-
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)	18	ABAT	Conflicting interpretations of pathogenicity	77696190	RCV000224364\|RCV001081605;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829651	8829651	16:g.8829651C>T	ClinGen:CA7892920	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.55C>A (p.Arg19Ser)	18	ABAT	Uncertain significance	77696190	RCV002021904\|RCV002563613;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8829651	8829651	8829651	-
NM_020686.6(ABAT):c.56G>A (p.Arg19His)	18	ABAT	Uncertain significance	780368959	RCV000635270;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829652	8829652	16:g.8829652G>A	ClinGen:CA7892921	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.56G>T (p.Arg19Leu)	18	ABAT	Uncertain significance	780368959	RCV001886010;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829652	8829652	8829652	-
NM_020686.6(ABAT):c.57C>T (p.Arg19=)	18	ABAT	Likely benign	1428203927	RCV002219952;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829653	8829653	8829653	-
NM_020686.6(ABAT):c.58C>G (p.Leu20Val)	18	ABAT	Uncertain significance	747283357	RCV001062054;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829654	8829654	16:g.8829654C>G	-
NM_020686.6(ABAT):c.60G>A (p.Leu20=)	18	ABAT	Likely benign	768798452	RCV002085755;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829656	8829656	8829656	-
NM_020686.6(ABAT):c.61C>G (p.Leu21Val)	18	ABAT	Uncertain significance	-1	RCV002843190;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829657	8829657	NC_000016.9:g.8829657C>G	-
NM_020686.6(ABAT):c.64_66del (p.Val22del)	18	ABAT	Uncertain significance	1412155029	RCV000819749;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829658	8829660	16:g.8829658_8829660del	-
NM_020686.6(ABAT):c.64G>C (p.Val22Leu)	18	ABAT	Uncertain significance	762710511	RCV001960434;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829660	8829660	8829660	-
NM_020686.6(ABAT):c.65T>A (p.Val22Glu)	18	ABAT	Uncertain significance	-1	RCV002839038;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829661	8829661	NC_000016.9:g.8829661T>A	-
NM_020686.6(ABAT):c.66G>A (p.Val22=)	18	ABAT	Likely benign	-1	RCV002982547;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829662	8829662		-
NM_020686.6(ABAT):c.68C>A (p.Pro23His)	18	ABAT	Uncertain significance	369376388	RCV001308260;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829664	8829664	8829664	-
NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)	18	ABAT	Uncertain significance	-1	RCV003063732;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829666	8829666	NC_000016.9:g.8829666G>A	-
NM_020686.6(ABAT):c.70+9dup	18	ABAT	Benign	-1	RCV003026558;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829671	8829672	NC_000016.9:g.8829675dup	-
NM_020686.6(ABAT):c.70+6C>A	18	ABAT	Uncertain significance	369944447	RCV002042165;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829672	8829672	8829672	-
NM_020686.6(ABAT):c.70+9del	18	ABAT	Benign	-1	RCV002619396;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829672	8829672	NC_000016.9:g.8829675del	-
NM_020686.6(ABAT):c.70+7C>T	18	ABAT	Likely benign	1350929505	RCV001434559;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829673	8829673	16:g.8829673C>T	-
NM_020686.6(ABAT):c.70+9C>T	18	ABAT	Likely benign	374147109	RCV000635276;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829675	8829675	16:g.8829675C>T	ClinGen:CA7892928	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.70+10G>A	18	ABAT	Likely benign	553745013	RCV000560614;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829676	8829676	16:g.8829676G>A	ClinGen:CA7892929	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.70+12G>A	18	ABAT	Likely benign	760345321	RCV002094229;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829678	8829678	8829678	-
NM_020686.6(ABAT):c.70+13G>T	18	ABAT	Likely benign	1282229987	RCV002160328;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829679	8829679	8829679	-
NM_020686.6(ABAT):c.70+16C>T	18	ABAT	Likely benign	-1	RCV002938540;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829682	8829682	NC_000016.9:g.8829682C>T	-
NM_020686.6(ABAT):c.70+20A>C	18	ABAT	Likely benign	763704300	RCV002190536;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829686	8829686	8829686	-
NM_020686.6(ABAT):c.70+49T>C	18	ABAT	Benign	1640998	RCV001544132;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8829715	8829715	8829715	-
NC_000016.9:g.(?_8839838)_(8870367_?)del	18	ABAT	Pathogenic	-1	RCV003109722;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839838	8870367		-
NM_020686.6(ABAT):c.71-19T>C	18	ABAT	Likely benign	2142622264	RCV002197262;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839839	8839839	8839839	-
NM_020686.6(ABAT):c.71-12del	18	ABAT	Likely benign	781324531	RCV002074918;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839844	8839844	8839843	-
NM_020686.6(ABAT):c.74C>G (p.Ser25Cys)	18	ABAT	Uncertain significance	-1	RCV002646834;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839861	8839861	NC_000016.9:g.8839861C>G	-
NM_020686.6(ABAT):c.77G>C (p.Arg26Thr)	18	ABAT	Uncertain significance	2142623083	RCV002001761;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839864	8839864	8839864	-
NM_020686.6(ABAT):c.79C>A (p.His27Asn)	18	ABAT	Uncertain significance	-1	RCV002833883;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839866	8839866	NC_000016.9:g.8839866C>A	-
NM_020686.6(ABAT):c.96A>C (p.Ala32=)	18	ABAT	Likely benign	2059317913	RCV001476718;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839883	8839883	8839883	-
NM_020686.6(ABAT):c.102A>C (p.Lys34Asn)	18	ABAT	Uncertain significance	-1	RCV002760431;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839889	8839889	NC_000016.9:g.8839889A>C	-
NM_020686.6(ABAT):c.106G>A (p.Asp36Asn)	18	ABAT	Uncertain significance	766849835	RCV001875274;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839893	8839893	8839893	-
NM_020686.6(ABAT):c.108C>A (p.Asp36Glu)	18	ABAT	Uncertain significance	751650520	RCV001224364;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839895	8839895	16:g.8839895C>A	-
NM_020686.6(ABAT):c.108C>T (p.Asp36=)	18	ABAT	Likely benign	751650520	RCV002128438;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839895	8839895	8839895	-
NM_020686.6(ABAT):c.109G>A (p.Val37Ile)	18	ABAT	Uncertain significance	140119176	RCV000591998\|RCV000805256\|RCV002532536;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8839896	8839896	NC_000016.9:g.8839896G>A	ClinGen:CA7892962	CN169374 not specified;
NM_020686.6(ABAT):c.110T>C (p.Val37Ala)	18	ABAT	Uncertain significance	373781844	RCV001893151;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839897	8839897	8839897	-
NM_020686.6(ABAT):c.129G>A (p.Gly43=)	18	ABAT	Benign	2228081	RCV000285418\|RCV000676426;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8839916	8839916	NC_000016.9:g.8839916G>A	ClinGen:CA7892965	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.135G>A (p.Leu45=)	18	ABAT	Likely benign	-1	RCV002913129;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839922	8839922		-
NM_020686.6(ABAT):c.143C>T (p.Thr48Met)	18	ABAT	Uncertain significance	-1	RCV002962078;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839930	8839930	NC_000016.9:g.8839930C>T	-
NM_020686.6(ABAT):c.144G>T (p.Thr48=)	18	ABAT	Likely benign	777699903	RCV001474047;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839931	8839931	8839931	-
NM_020686.6(ABAT):c.144G>A (p.Thr48=)	18	ABAT	Likely benign	777699903	RCV002115353;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839931	8839931	8839931	-
NM_020686.6(ABAT):c.145G>T (p.Glu49Ter)	18	ABAT	Likely pathogenic	-1	RCV003465146;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839932	8839932		-
NM_020686.6(ABAT):c.150C>T (p.Val50=)	18	ABAT	Likely benign	2142624986	RCV001463642;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839937	8839937	8839937	-
NM_020686.6(ABAT):c.153A>C (p.Pro51=)	18	ABAT	Likely benign	1368430890	RCV001402667;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839940	8839940	8839940	-
NM_020686.6(ABAT):c.156G>A (p.Gly52=)	18	ABAT	Likely benign	955478669	RCV002097902;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839943	8839943	8839943	-
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu)	18	ABAT	Uncertain significance	903906856	RCV000443452\|RCV001861565;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839945	8839945	16:g.8839945C>T	ClinGen:CA16608295	CN169374 not specified;
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro)	18	ABAT	Uncertain significance	2059320233	RCV001507338\|RCV002564191;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839950	8839950	8839950	-
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)	18	ABAT	Benign	1731017	RCV000342704\|RCV000676427;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8839954	8839954	NC_000016.9:g.8839954A>G	ClinGen:CA7892974,UniProtKB:P80404#VAR_018979	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.168+1G>A	18	ABAT	Pathogenic	1567300736	RCV000786413;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839956	8839956	16:g.8839956G>A	-
NM_020686.6(ABAT):c.168+3G>A	18	ABAT	Uncertain significance	1294985666	RCV001201664;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839958	8839958	16:g.8839958G>A	-
NM_020686.6(ABAT):c.168+5G>T	18	ABAT	Uncertain significance	539641450	RCV002000708;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839960	8839960	8839960	-
NM_020686.6(ABAT):c.168+6T>A	18	ABAT	Uncertain significance	2059320859	RCV001062659;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839961	8839961	16:g.8839961T>A	-
NM_020686.6(ABAT):c.168+12A>G	18	ABAT	Benign	75151311	RCV000392110;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839967	8839967	NC_000016.9:g.8839967A>G	ClinGen:CA7892977	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.168+13C>T	18	ABAT	Conflicting interpretations of pathogenicity	759610129	RCV001117163;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839968	8839968	16:g.8839968C>T	-
NM_020686.6(ABAT):c.168+18G>C	18	ABAT	Likely benign	-1	RCV002877006;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839973	8839973	NC_000016.9:g.8839973G>C	-
NM_020686.6(ABAT):c.168+20G>T	18	ABAT	Likely benign	-1	RCV002631012;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8839975	8839975	NC_000016.9:g.8839975G>T	-
NC_000016.9:g.(?_8841945)_(8941682_?)dup	18	ABAT	Uncertain significance	-1	RCV003109728;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841945	8941682		-
NM_020686.6(ABAT):c.169-14_169-12del	18	ABAT	Likely benign	1470661184	RCV002197583;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841946	8841948	8841945	-
NM_020686.6(ABAT):c.169-13T>A	18	ABAT	Likely benign	754077432	RCV001455780;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841952	8841952	8841952	-
NM_020686.6(ABAT):c.169-8G>C	18	ABAT	Likely benign	2059383863	RCV002096167;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841957	8841957	8841957	-
NM_020686.6(ABAT):c.169-6C>T	18	ABAT	Conflicting interpretations of pathogenicity	758166055	RCV000728147\|RCV001446606;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841959	8841959	NC_000016.9:g.8841959C>T	-
NM_020686.6(ABAT):c.169-5T>C	18	ABAT	Benign	1641010	RCV000284451\|RCV000676428;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8841960	8841960	NC_000016.9:g.8841960T>C	ClinGen:CA7893003	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.169-5_169-4inv	18	ABAT	Likely benign	-1	RCV002146536;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841960	8841961	8841960	-
NM_020686.6(ABAT):c.169-5T>A	18	ABAT	Uncertain significance	-1	RCV003005653;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841960	8841960	NC_000016.9:g.8841960T>A	-
NM_020686.6(ABAT):c.169-2A>G	18	ABAT	Likely pathogenic	939876800	RCV001969528;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841963	8841963	8841963	-
GRCh37/hg19 16p13.2(chr16:8841965-8851663)	18	ABAT	Likely pathogenic	-1	RCV003236745;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841965	8851663		-
NM_020686.6(ABAT):c.170A>C (p.Glu57Ala)	18	ABAT	Uncertain significance	539748102	RCV001063259;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841966	8841966	16:g.8841966A>C	-
NM_020686.6(ABAT):c.181C>T (p.Gln61Ter)	18	ABAT	Likely pathogenic	-1	RCV003468415;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841977	8841977		-
NM_020686.6(ABAT):c.186G>T (p.Leu62=)	18	ABAT	Likely benign	-1	RCV003035767;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8841982	8841982		-
NM_020686.6(ABAT):c.190A>G (p.Ile64Val)	18	ABAT	Uncertain significance	756209600	RCV000795222\|RCV002261206;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:CN517202	16	8841986	8841986	16:g.8841986A>G	-
NM_020686.6(ABAT):c.198+7G>A	18	ABAT	Likely benign	-1	RCV003059391;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8842001	8842001	NC_000016.9:g.8842001G>A	-
NM_020686.6(ABAT):c.198+10G>A	18	ABAT	Likely benign	748922986	RCV002150727;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8842004	8842004	8842004	-
NM_020686.6(ABAT):c.198+16G>A	18	ABAT	Likely benign	-1	RCV002628586;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8842010	8842010	NC_000016.9:g.8842010G>A	-
NM_020686.6(ABAT):c.198+23_198+27del	18	ABAT	Likely benign	1357421251	RCV002095686;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8842014	8842018	8842013	-
NC_000016.9:g.(?_8844259)_(8875287_?)del	18	ABAT	Likely pathogenic	-1	RCV002036347;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844259	8875287	-1	-
NM_020686.6(ABAT):c.199-18G>A	18	ABAT	Likely benign	-1	RCV002802072;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844261	8844261	NC_000016.9:g.8844261G>A	-
NM_020686.6(ABAT):c.199-9T>A	18	ABAT	Likely benign	767501137	RCV001468817;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844270	8844270	16:g.8844270T>A	-
NM_020686.6(ABAT):c.199-7C>T	18	ABAT	Likely benign	1488250705	RCV002174051;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844272	8844272	8844272	-
NM_020686.6(ABAT):c.199-2A>C	18	ABAT	Likely pathogenic	-1	RCV002971420;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844277	8844277	NC_000016.9:g.8844277A>C	-
NM_020686.6(ABAT):c.205G>A (p.Glu69Lys)	18	ABAT	Uncertain significance	752701740	RCV002048526;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844285	8844285	8844285	-
NM_020686.6(ABAT):c.208G>T (p.Ala70Ser)	18	ABAT	Uncertain significance	540109350	RCV001370449\|RCV002550105;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8844288	8844288	8844288	-
NM_020686.6(ABAT):c.214C>A (p.His72Asn)	18	ABAT	Uncertain significance	-1	RCV003071906;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844294	8844294	NC_000016.9:g.8844294C>A	-
NM_020686.6(ABAT):c.224G>T (p.Cys75Phe)	18	ABAT	Uncertain significance	-1	RCV002928035;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844304	8844304	NC_000016.9:g.8844304G>T	-
NM_020686.6(ABAT):c.226A>G (p.Asn76Asp)	18	ABAT	Uncertain significance	-1	RCV002886390;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844306	8844306	NC_000016.9:g.8844306A>G	-
NM_020686.6(ABAT):c.231C>T (p.Tyr77=)	18	ABAT	Likely benign	746154029	RCV001421589;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844311	8844311	16:g.8844311C>T	-
NM_020686.6(ABAT):c.232G>A (p.Glu78Lys)	18	ABAT	Uncertain significance	565305929	RCV001373443;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844312	8844312	8844312	-
NM_020686.6(ABAT):c.236A>T (p.Glu79Val)	18	ABAT	Uncertain significance	1596454363	RCV000815541;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844316	8844316	16:g.8844316A>T	-
NM_020686.6(ABAT):c.249T>C (p.Asn83=)	18	ABAT	Likely benign	564543173	RCV000554327;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844329	8844329	16:g.8844329T>C	ClinGen:CA7893034	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.267C>T (p.Asp89=)	18	ABAT	Benign/Likely benign	199666932	RCV000346345\|RCV000732641\|RCV003409503;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:CN169374\|MedGen:C3661900	16	8844347	8844347	NC_000016.9:g.8844347C>T	ClinGen:CA7893036	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.274C>T (p.Arg92Ter)	18	ABAT	Pathogenic	-1	RCV002843117;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844354	8844354	NC_000016.9:g.8844354C>T	-
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)	18	ABAT	Pathogenic	724159992	RCV000149900;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844355	8844355	NC_000016.9:g.8844355G>A	ClinGen:CA175091,OMIM:137150.0003	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.279G>A (p.Met93Ile)	18	ABAT	Uncertain significance	1555490154	RCV000635266;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844359	8844359	NC_000016.9:g.8844359G>A	ClinGen:CA394687915	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.285T>C (p.Asp95=)	18	ABAT	Conflicting interpretations of pathogenicity	917180192	RCV001118794;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844365	8844365	16:g.8844365T>C	-
NM_020686.6(ABAT):c.307G>T (p.Val103Phe)	18	ABAT	Uncertain significance	2142726624	RCV001907983;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844387	8844387	8844387	-
NM_020686.6(ABAT):c.309C>T (p.Val103=)	18	ABAT	Benign	2229157	RCV000404270\|RCV000676429;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8844389	8844389	16:g.8844389C>T	ClinGen:CA7893039	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.314T>C (p.Ile105Thr)	18	ABAT	Uncertain significance	1596454443	RCV000801069;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844394	8844394	16:g.8844394T>C	-
NM_020686.6(ABAT):c.316+3A>G	18	ABAT	Uncertain significance	376810382	RCV002006795;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844399	8844399	8844399	-
NM_020686.6(ABAT):c.316+7G>C	18	ABAT	Likely benign	2142726854	RCV001468536;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844403	8844403	8844403	-
NM_020686.6(ABAT):c.316+9T>C	18	ABAT	Likely benign	1596454454	RCV001430162;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844405	8844405	16:g.8844405T>C	-
NM_020686.6(ABAT):c.316+12G>C	18	ABAT	Likely benign	-1	RCV002933079;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844408	8844408	NC_000016.9:g.8844408G>C	-
NM_020686.6(ABAT):c.316+15A>G	18	ABAT	Likely benign	-1	RCV003039541;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844411	8844411	NC_000016.9:g.8844411A>G	-
NM_020686.6(ABAT):c.316+19T>C	18	ABAT	Likely benign	1278852788	RCV002078956;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8844415	8844415	8844415	-
NC_000016.9:g.(?_8851594)_(8941702_?)dup	18	ABAT	Uncertain significance	-1	RCV000817955;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851594	8941702		-
NC_000016.9:g.(?_8851594)_(8862850_?)dup	18	ABAT	Likely pathogenic	-1	RCV002036386;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851594	8862850	-1	-
NC_000016.9:g.(?_8851594)_(9017290_?)del	18	ABAT	Uncertain significance	-1	RCV003109723;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851594	9017290		-
NM_020686.6(ABAT):c.317-18A>G	18	ABAT	Uncertain significance	2059688012	RCV001881015;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851596	8851596	8851596	-
NM_020686.6(ABAT):c.317-15C>T	18	ABAT	Likely benign	-1	RCV002624855;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851599	8851599	NC_000016.9:g.8851599C>T	-
NM_020686.6(ABAT):c.317-11C>T	18	ABAT	Likely benign	779744741	RCV002108081;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851603	8851603	8851603	-
NM_020686.6(ABAT):c.317-8G>C	18	ABAT	Likely benign	747682160	RCV002111518;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851606	8851606	8851606	-
NM_020686.6(ABAT):c.317-7C>T	18	ABAT	Likely benign	-1	RCV003055683;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851607	8851607	NC_000016.9:g.8851607C>T	-
NM_020686.6(ABAT):c.317-5C>G	18	ABAT	Uncertain significance	781499078	RCV000298206\|RCV002521075;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8851609	8851609	16:g.8851609C>G	ClinGen:CA7893071	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.317-5C>T	18	ABAT	Likely benign	781499078	RCV002065552;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851609	8851609	16:g.8851609C>T	-
NM_020686.6(ABAT):c.317-2A>G	18	ABAT	Likely pathogenic	-1	RCV003052593;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851612	8851612	NC_000016.9:g.8851612A>G	-
NM_020686.6(ABAT):c.323G>A (p.Ser108Asn)	18	ABAT	Uncertain significance	-1	RCV002971967;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851620	8851620	NC_000016.9:g.8851620G>A	-
NM_020686.6(ABAT):c.327C>T (p.His109=)	18	ABAT	Likely benign	1393125718	RCV001400627;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851624	8851624	8851624	-
NM_020686.6(ABAT):c.328C>T (p.Pro110Ser)	18	ABAT	Uncertain significance	2142848668	RCV002037383;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851625	8851625	8851625	-
NM_020686.6(ABAT):c.330C>T (p.Pro110=)	18	ABAT	Likely benign	142857998	RCV000908294;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851627	8851627	16:g.8851627C>T	-
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr)	18	ABAT	Uncertain significance	150783272	RCV001305521;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851628	8851628	8851628	-
NM_020686.6(ABAT):c.332C>A (p.Ala111Asp)	18	ABAT	Uncertain significance	771274821	RCV001211609;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851629	8851629	16:g.8851629C>A	-
NM_020686.6(ABAT):c.365C>T (p.Ala122Val)	18	ABAT	Uncertain significance	761782312	RCV000706999;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851662	8851662	16:g.8851662C>T	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.366G>A (p.Ala122=)	18	ABAT	Uncertain significance	866554267	RCV001962533;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851663	8851663	8851663	-
NM_020686.6(ABAT):c.366+10G>A	18	ABAT	Benign	61307956	RCV000635275\|RCV001084171;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851673	8851673	16:g.8851673G>A	ClinGen:CA7893082	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.366+11G>T	18	ABAT	Benign	141893184	RCV000353049;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851674	8851674	16:g.8851674G>T	ClinGen:CA7893083	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.366+13G>T	18	ABAT	Likely benign	769166673	RCV002151086;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851676	8851676	8851676	-
NM_020686.6(ABAT):c.366+104C>T	18	ABAT	Benign	12930438	RCV001544146;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8851767	8851767	8851767	-
NC_000016.9:g.(?_8857906)_(8858707_?)del	18	ABAT	Uncertain significance	-1	RCV001997121;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857906	8858707	-1	-
NC_000016.9:g.(?_8857906)_(8862850_?)del	18	ABAT	Uncertain significance	-1	RCV003109724;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857906	8862850		-
NM_020686.6(ABAT):c.367-15C>G	18	ABAT	Likely benign	2142919190	RCV002147565;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857911	8857911	8857911	-
NM_020686.6(ABAT):c.367-11C>A	18	ABAT	Likely benign	368243612	RCV001949305;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857915	8857915	8857915	-
NM_020686.6(ABAT):c.367-11C>T	18	ABAT	Likely benign	368243612	RCV002206080;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857915	8857915	8857915	-
NC_000016.10:g.(?_8764059)_(8781430_?)dup	18	ABAT	Uncertain significance	-1	RCV001032834;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857916	8875287	-1	-
NM_020686.6(ABAT):c.367-3C>T	18	ABAT	Uncertain significance	367740820	RCV002008214;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857923	8857923	8857923	-
NM_020686.6(ABAT):c.370A>G (p.Met124Val)	18	ABAT	Uncertain significance	370414705	RCV001947812;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857929	8857929	8857929	-
NM_020686.6(ABAT):c.378dup (p.Asn127fs)	18	ABAT	Pathogenic	-1	RCV002856126;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857936	8857937	NC_000016.9:g.8857937dup	-
NM_020686.6(ABAT):c.387C>T (p.Pro129=)	18	ABAT	Conflicting interpretations of pathogenicity	759203240	RCV001120167;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857946	8857946	16:g.8857946C>T	-
NM_020686.6(ABAT):c.393C>T (p.Leu131=)	18	ABAT	Likely benign	139142171	RCV002189745;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857952	8857952	8857952	-
NM_020686.6(ABAT):c.399C>T (p.Ile133=)	18	ABAT	Likely benign	1272415972	RCV001423054;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857958	8857958	8857958	-
NM_020686.6(ABAT):c.408G>A (p.Pro136=)	18	ABAT	Likely benign	149959823	RCV001061486;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857967	8857967	16:g.8857967G>A	-
NM_020686.6(ABAT):c.417T>C (p.Phe139=)	18	ABAT	Likely benign	2142919912	RCV002199816;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857976	8857976	8857976	-
NM_020686.6(ABAT):c.419T>C (p.Val140Ala)	18	ABAT	Uncertain significance	886052429	RCV000277115;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857978	8857978	16:g.8857978T>C	ClinGen:CA10648197	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.420G>A (p.Val140=)	18	ABAT	Likely benign	1596464284	RCV002547204;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857979	8857979	16:g.8857979G>A	-
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln)	18	ABAT	Uncertain significance	745491786	RCV001315448;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857990	8857990	8857990	-
NM_020686.6(ABAT):c.432G>C (p.Arg144=)	18	ABAT	Likely benign	974152356	RCV002117440;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857991	8857991	8857991	-
NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)	18	ABAT	Uncertain significance	-1	RCV002633488;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857993	8857993	NC_000016.9:g.8857993A>T	-
NM_020686.6(ABAT):c.437C>T (p.Ser146Phe)	18	ABAT	Uncertain significance	-1	RCV003033545;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8857996	8857996	NC_000016.9:g.8857996C>T	-
NM_020686.6(ABAT):c.441G>C (p.Leu147Phe)	18	ABAT	Uncertain significance	747914194	RCV002034092;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858000	8858000	8858000	-
NM_020686.6(ABAT):c.442C>T (p.Leu148Phe)	18	ABAT	Uncertain significance	-1	RCV003060539;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858001	8858001	NC_000016.9:g.8858001C>T	-
NM_020686.6(ABAT):c.444C>G (p.Leu148=)	18	ABAT	Likely benign	-1	RCV002800173;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858003	8858003		-
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu)	18	ABAT	Uncertain significance	374113959	RCV000291785\|RCV000553138;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858005	8858005	16:g.8858005C>T	ClinGen:CA7893118	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.446C>G (p.Ser149Trp)	18	ABAT	Uncertain significance	374113959	RCV001867570;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858005	8858005	8858005	-
NM_020686.6(ABAT):c.447G>C (p.Ser149=)	18	ABAT	Uncertain significance	376531387	RCV002043611;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858006	8858006	8858006	-
NM_020686.6(ABAT):c.447G>T (p.Ser149=)	18	ABAT	Uncertain significance	376531387	RCV002011190\|RCV002642178;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8858006	8858006	8858006	-
NM_020686.6(ABAT):c.447G>A (p.Ser149=)	18	ABAT	Uncertain significance	-1	RCV003074471;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858006	8858006		-
NM_020686.6(ABAT):c.447+12A>T	18	ABAT	Likely benign	2142920603	RCV001899243;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858018	8858018	8858018	-
NM_020686.6(ABAT):c.447+13G>A	18	ABAT	Likely benign	200598762	RCV002149232;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858019	8858019	8858019	-
NM_020686.6(ABAT):c.447+15A>G	18	ABAT	Likely benign	-1	RCV002876111;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858021	8858021	NC_000016.9:g.8858021A>G	-
NM_020686.6(ABAT):c.447+17C>T	18	ABAT	Likely benign	376401008	RCV001978418;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858023	8858023	8858023	-
NM_020686.6(ABAT):c.447+17C>A	18	ABAT	Likely benign	376401008	RCV002119286;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858023	8858023	8858023	-
NM_020686.6(ABAT):c.447+20T>A	18	ABAT	Likely benign	-1	RCV003036135;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858026	8858026	NC_000016.9:g.8858026T>A	-
NM_020686.6(ABAT):c.448-20G>A	18	ABAT	Benign	200644195	RCV002086433;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858575	8858575	8858575	-
NM_020686.6(ABAT):c.448-18C>T	18	ABAT	Uncertain significance	2142927888	RCV001937519;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858577	8858577	8858577	-
NM_020686.6(ABAT):c.448-18C>A	18	ABAT	Likely benign	-1	RCV002801670;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858577	8858577	NC_000016.9:g.8858577C>A	-
NM_020686.6(ABAT):c.448-15T>A	18	ABAT	Benign	2302608	RCV000332178;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858580	8858580	16:g.8858580T>A	ClinGen:CA7893140	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.448-11C>G	18	ABAT	Likely benign	771506614	RCV001947004;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858584	8858584	8858584	-
NM_020686.6(ABAT):c.448-11C>T	18	ABAT	Likely benign	-1	RCV002776375;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858584	8858584	NC_000016.9:g.8858584C>T	-
NM_020686.6(ABAT):c.448-10C>A	18	ABAT	Likely benign	-1	RCV002650490;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858585	8858585	NC_000016.9:g.8858585C>A	-
NM_020686.6(ABAT):c.448-5C>A	18	ABAT	Likely benign	374659543	RCV001452005;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858590	8858590	8858590	-
NM_020686.6(ABAT):c.448-5C>T	18	ABAT	Likely benign	374659543	RCV002087215;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858590	8858590	8858590	-
NM_020686.6(ABAT):c.448-1G>T	18	ABAT	not provided	1555491838	RCV000509501;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858594	8858594	NC_000016.9:g.8858594G>T	ClinGen:CA394688307	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.451G>A (p.Ala151Thr)	18	ABAT	Uncertain significance	1210477111	RCV001877459;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858598	8858598	8858598	-
NM_020686.6(ABAT):c.454C>T (p.Pro152Ser)	18	ABAT	Pathogenic	1567310537	RCV000786414;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858601	8858601	16:g.8858601C>T	-
NM_020686.6(ABAT):c.458A>G (p.Lys153Arg)	18	ABAT	Uncertain significance	2142928367	RCV002020257;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858605	8858605	8858605	-
NM_020686.6(ABAT):c.462G>C (p.Gly154=)	18	ABAT	Likely benign	892963068	RCV002110447;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858609	8858609	8858609	-
NM_020686.6(ABAT):c.471G>A (p.Gln157=)	18	ABAT	Likely benign	762337644	RCV001477795;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858618	8858618	8858618	-
NM_020686.6(ABAT):c.482T>G (p.Met161Arg)	18	ABAT	Uncertain significance	1323737693	RCV001070246;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858629	8858629	16:g.8858629T>G	-
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr)	18	ABAT	Uncertain significance	750911984	RCV000375231\|RCV001859570;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858631	8858631	16:g.8858631G>A	ClinGen:CA7893148	CN169374 not specified;
NM_020686.6(ABAT):c.486C>T (p.Ala162=)	18	ABAT	Conflicting interpretations of pathogenicity	763045532	RCV000593060\|RCV002062020;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858633	8858633	16:g.8858633C>T	ClinGen:CA7893149	CN169374 not specified;
NM_020686.6(ABAT):c.489C>T (p.Cys163=)	18	ABAT	Likely benign	200627621	RCV002083138;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858636	8858636	8858636	-
NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)	18	ABAT	Uncertain significance	-1	RCV003067400\|RCV003067401;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858640	8858640	NC_000016.9:g.8858640T>G	-
NM_020686.6(ABAT):c.501C>T (p.Ser167=)	18	ABAT	Likely benign	753562528	RCV002194142;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858648	8858648	8858648	-
NM_020686.6(ABAT):c.502A>G (p.Asn168Asp)	18	ABAT	Uncertain significance	1596464782	RCV002014800;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858649	8858649	8858649	-
NM_020686.6(ABAT):c.503A>G (p.Asn168Ser)	18	ABAT	Uncertain significance	757056947	RCV001367641;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858650	8858650	8858650	-
NM_020686.6(ABAT):c.510C>T (p.Asn170=)	18	ABAT	Likely benign	141981377	RCV001438597;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858657	8858657	8858657	-
NM_020686.6(ABAT):c.511G>A (p.Ala171Thr)	18	ABAT	Uncertain significance	903118661	RCV002014555;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858658	8858658	8858658	-
NM_020686.6(ABAT):c.513C>T (p.Ala171=)	18	ABAT	Likely benign	-1	RCV002654954;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858660	8858660		-
NM_020686.6(ABAT):c.522C>T (p.Thr174=)	18	ABAT	Likely benign	-1	RCV002996412;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858669	8858669		-
NM_020686.6(ABAT):c.525C>T (p.Ile175=)	18	ABAT	Likely benign	1382391739	RCV000635274;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858672	8858672	16:g.8858672C>T	ClinGen:CA493491448	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.531G>C (p.Met177Ile)	18	ABAT	Uncertain significance	779411867	RCV001219911;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858678	8858678	16:g.8858678G>C	-
NM_020686.6(ABAT):c.531G>A (p.Met177Ile)	18	ABAT	Uncertain significance	-1	RCV002991589;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858678	8858678	NC_000016.9:g.8858678G>A	-
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)	18	ABAT	Uncertain significance	746589996	RCV000805733\|RCV002534817;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8858685	8858685	16:g.8858685C>T	-
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln)	18	ABAT	Uncertain significance	776431473	RCV001047570;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858686	8858686	16:g.8858686G>A	-
NM_020686.6(ABAT):c.540+5G>T	18	ABAT	Uncertain significance	2059896686	RCV001219348;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858692	8858692	16:g.8858692G>T	-
NM_020686.6(ABAT):c.540+13_540+14dup	18	ABAT	Likely benign	765389727	RCV002171394;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858699	8858700	8858699	-
NM_020686.6(ABAT):c.540+14CA[12]	18	ABAT	Benign/Likely benign	35745596	RCV000367638;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858700	8858701	16:g.8858700_8858701insCA	ClinGen:CA7893168	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.540+14CA[14]	18	ABAT	Conflicting interpretations of pathogenicity	35745596	RCV000328041;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858700	8858701	16:g.8858700_8858701insCACACA	ClinGen:CA7893170	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.540+14CA[13]	18	ABAT	Conflicting interpretations of pathogenicity	35745596	RCV000272982;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858700	8858701	16:g.8858700_8858701insCACA	ClinGen:CA7893167	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.540+14CA[15]	18	ABAT	Likely benign	35745596	RCV002170718;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858700	8858701	8858700	-
NM_020686.6(ABAT):c.540+14CA[16]	18	ABAT	Likely benign	35745596	RCV002202142;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858700	8858701	8858700	-
NM_020686.6(ABAT):c.540+14CA[10]	18	ABAT	Benign/Likely benign	35745596	RCV001522235;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858701	8858702	8858700	-
NM_020686.6(ABAT):c.540+14CA[9]	18	ABAT	Likely benign	35745596	RCV002212482;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858701	8858704	8858700	-
NM_020686.6(ABAT):c.540+14CA[7]	18	ABAT	Likely benign	35745596	RCV002078060;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858701	8858708	8858700	-
NM_020686.6(ABAT):c.540+14CA[8]	18	ABAT	Likely benign	35745596	RCV002219912;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858701	8858706	8858700	-
NM_020686.6(ABAT):c.540+14CA[6]	18	ABAT	Likely benign	35745596	RCV002120192;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858701	8858710	8858700	-
NM_020686.6(ABAT):c.540+15A>G	18	ABAT	Likely benign	773662763	RCV002130003;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8858702	8858702	8858702	-
NM_020686.6(ABAT):c.541-15G>C	18	ABAT	Likely benign	779730449	RCV002148103;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860050	8860050	8860050	-
NM_020686.6(ABAT):c.541-10A>G	18	ABAT	Likely benign	771274045	RCV002084159\|RCV003403704;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:CN169374	16	8860055	8860055	8860055	-
NM_020686.6(ABAT):c.541-9T>C	18	ABAT	Likely benign	774934344	RCV002119919;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860056	8860056	8860056	-
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg)	18	ABAT	Uncertain significance	144238624	RCV001903048\|RCV003238875;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8860067	8860067	8860067	-
NM_020686.6(ABAT):c.555G>A (p.Gly185=)	18	ABAT	Conflicting interpretations of pathogenicity	147765799	RCV000382601;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860079	8860079	16:g.8860079G>A	ClinGen:CA7893197	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.558G>A (p.Gln186=)	18	ABAT	Likely benign	-1	RCV003037759;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860082	8860082		-
NM_020686.6(ABAT):c.560G>C (p.Arg187Thr)	18	ABAT	Uncertain significance	1156477140	RCV000706714;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860084	8860084	16:g.8860084G>C	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)	18	ABAT	Uncertain significance	141279192	RCV000288121;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860085	8860085	16:g.8860085G>C	ClinGen:CA7893198	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.563G>C (p.Gly188Ala)	18	ABAT	Uncertain significance	-1	RCV002908140;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860087	8860087	NC_000016.9:g.8860087G>C	-
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln)	18	ABAT	Uncertain significance	1596465746	RCV000800025;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860107	8860107	16:g.8860107G>C	-
NM_020686.6(ABAT):c.585G>A (p.Glu195=)	18	ABAT	Likely benign	2142947004	RCV002086182;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860109	8860109	8860109	-
NM_020686.6(ABAT):c.587C>T (p.Thr196Met)	18	ABAT	Uncertain significance	546024063	RCV000180673\|RCV001852254;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860111	8860111	16:g.8860111C>T	ClinGen:CA248208	CN169374 not specified;
NM_020686.6(ABAT):c.588G>C (p.Thr196=)	18	ABAT	Likely benign	-1	RCV002584792;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860112	8860112		-
NM_020686.6(ABAT):c.589T>A (p.Cys197Ser)	18	ABAT	Uncertain significance	1567311566	RCV002028523;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860113	8860113	8860113	-
NM_020686.6(ABAT):c.592A>G (p.Met198Val)	18	ABAT	Uncertain significance	200207185	RCV001120464;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860116	8860116	16:g.8860116A>G	-
NM_020686.6(ABAT):c.603+1G>A	18	ABAT	Likely pathogenic	2142947295	RCV002009491;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860128	8860128	8860128	-
NM_020686.6(ABAT):c.603+3G>A	18	ABAT	Benign/Likely benign	41312254	RCV000224546\|RCV000324489;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860130	8860130	16:g.8860130G>A	ClinGen:CA7893202	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.603+6T>G	18	ABAT	Uncertain significance	966081353	RCV001120465;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860133	8860133	16:g.8860133T>G	-
NM_020686.6(ABAT):c.603+15G>C	18	ABAT	Likely benign	1385658702	RCV002187596;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860142	8860142	8860142	-
NM_020686.6(ABAT):c.603+19G>A	18	ABAT	Likely benign	-1	RCV002862440;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8860146	8860146	NC_000016.9:g.8860146G>A	-
NM_020686.6(ABAT):c.604-7G>A	18	ABAT	Likely benign	777269086	RCV002206459;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862043	8862043	8862043	-
NM_020686.6(ABAT):c.604-6T>A	18	ABAT	Likely benign	-1	RCV003081804;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862044	8862044	NC_000016.9:g.8862044T>A	-
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser)	18	ABAT	Uncertain significance	756890572	RCV001305975;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862050	8862050	8862050	-
NM_020686.6(ABAT):c.606C>T (p.Ala202=)	18	ABAT	Likely benign	1555492234	RCV000635272;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862052	8862052	16:g.8862052C>T	ClinGen:CA493492222	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.615C>A (p.Cys205Ter)	18	ABAT	Likely pathogenic	-1	RCV003466591;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862061	8862061		-
NM_020686.6(ABAT):c.618C>G (p.Pro206=)	18	ABAT	Likely benign	373357773	RCV000557269;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862064	8862064	NC_000016.9:g.8862064C>G	ClinGen:CA277471721	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.618C>T (p.Pro206=)	18	ABAT	Likely benign	373357773	RCV000884772;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862064	8862064	16:g.8862064C>T	-
NM_020686.6(ABAT):c.619G>A (p.Asp207Asn)	18	ABAT	Uncertain significance	772498753	RCV001343009;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862065	8862065	8862065	-
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly)	18	ABAT	Uncertain significance	2060001644	RCV001317720;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862071	8862071	8862071	-
NM_020686.6(ABAT):c.626G>A (p.Ser209Asn)	18	ABAT	Uncertain significance	1457964207	RCV002019666;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862072	8862072	8862072	-
NM_020686.6(ABAT):c.630C>T (p.Ile210=)	18	ABAT	Likely benign	-1	RCV002610978;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862076	8862076		-
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe)	18	ABAT	Pathogenic	724159990	RCV000149898;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862077	8862077	NC_000016.9:g.8862077C>T	ClinGen:CA175085	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.638T>G (p.Phe213Cys)	18	ABAT	Pathogenic	1567312671	RCV000786416;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862084	8862084	16:g.8862084T>G	-
NM_020686.6(ABAT):c.641T>C (p.Met214Thr)	18	ABAT	Likely benign	149271402	RCV000263068\|RCV000378959\|RCV000859652;	N	MedGen:CN169374\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8862087	8862087	16:g.8862087T>C	ClinGen:CA7893235	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.643G>A (p.Gly215Ser)	18	ABAT	Uncertain significance	762050203	RCV001066152\|RCV003160545;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8862089	8862089	16:g.8862089G>A	-
NM_020686.6(ABAT):c.645C>A (p.Gly215=)	18	ABAT	Conflicting interpretations of pathogenicity	1139522	RCV000284582;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862091	8862091	16:g.8862091C>A	ClinGen:CA7893237	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.645C>T (p.Gly215=)	18	ABAT	Uncertain significance	1139522	RCV001247981;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862091	8862091	16:g.8862091C>T	-
NM_020686.6(ABAT):c.646G>A (p.Ala216Thr)	18	ABAT	Uncertain significance	-1	RCV002938849;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862092	8862092	NC_000016.9:g.8862092G>A	-
NM_020686.6(ABAT):c.648G>A (p.Ala216=)	18	ABAT	Likely benign	767550217	RCV000676430\|RCV001483734;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862094	8862094	NC_000016.9:g.8862094G>A	-	CN517202 not provided;
NM_020686.6(ABAT):c.657G>C (p.Gly219=)	18	ABAT	Likely benign	1245557067	RCV002120454;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862103	8862103	8862103	-
NM_020686.6(ABAT):c.659G>A (p.Arg220Lys)	18	ABAT	Pathogenic	121434578	RCV000017603;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862105	8862105	16:g.8862105G>A	ClinGen:CA126278,UniProtKB:P80404#VAR_008883,OMIM:137150.0001	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.660G>A (p.Arg220=)	18	ABAT	Likely benign	-1	RCV003087875;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862106	8862106		-
NM_020686.6(ABAT):c.665T>C (p.Met222Thr)	18	ABAT	Uncertain significance	-1	RCV002976600;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862111	8862111	NC_000016.9:g.8862111T>C	-
NM_020686.6(ABAT):c.667+7_667+8dup	18	ABAT	Conflicting interpretations of pathogenicity	748783252	RCV000340002;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862118	8862119	NC_000016.9:g.8862120_8862121dup	ClinGen:CA7893242	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.667+15T>C	18	ABAT	Likely benign	753309345	RCV002159163;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862128	8862128	8862128	-
NM_020686.6(ABAT):c.667+15T>G	18	ABAT	Likely benign	-1	RCV002628978;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862128	8862128	NC_000016.9:g.8862128T>G	-
NM_020686.6(ABAT):c.667+18C>T	18	ABAT	Likely benign	756875305	RCV002108108;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862131	8862131	8862131	-
NM_020686.6(ABAT):c.667+19G>A	18	ABAT	Likely benign	546406644	RCV002198403;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862132	8862132	8862132	-
NM_020686.6(ABAT):c.667+20C>T	18	ABAT	Likely benign	376506551	RCV002112058;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862133	8862133	8862133	-
NM_020686.6(ABAT):c.667+99C>T	18	ABAT	Benign	8049072	RCV001544133;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862212	8862212	8862212	-
NM_020686.6(ABAT):c.667+120del	18	ABAT	Benign	33948976	RCV001544143;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862233	8862233	8862232	-
NM_020686.6(ABAT):c.668-90T>C	18	ABAT	Benign	1273407	RCV001544144;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862592	8862592	8862592	-
NM_020686.6(ABAT):c.668-3C>T	18	ABAT	Uncertain significance	375716049	RCV000545803;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862679	8862679	16:g.8862679C>T	ClinGen:CA7893264	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.668-2A>C	18	ABAT	Likely pathogenic	-1	RCV003476365;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862680	8862680		-
NM_020686.6(ABAT):c.677C>T (p.Ala226Val)	18	ABAT	Uncertain significance	372807667	RCV000792467;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862691	8862691	16:g.8862691C>T	-
NM_020686.6(ABAT):c.677C>G (p.Ala226Gly)	18	ABAT	Uncertain significance	-1	RCV002619691;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862691	8862691	NC_000016.9:g.8862691C>G	-
NM_020686.6(ABAT):c.678G>A (p.Ala226=)	18	ABAT	Conflicting interpretations of pathogenicity	112564762	RCV000174150\|RCV002056918;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862692	8862692	16:g.8862692G>A	ClinGen:CA239649	CN169374 not specified;
NM_020686.6(ABAT):c.678G>C (p.Ala226=)	18	ABAT	Conflicting interpretations of pathogenicity	112564762	RCV000333998\|RCV002055061;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862692	8862692	16:g.8862692G>C	ClinGen:CA10605127	CN169374 not specified;
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser)	18	ABAT	Uncertain significance	1223056561	RCV001223701;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862694	8862694	16:g.8862694C>G	-
NM_020686.6(ABAT):c.683C>T (p.Thr228Met)	18	ABAT	Uncertain significance	1174585175	RCV001968603;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862697	8862697	8862697	-
NM_020686.6(ABAT):c.684G>A (p.Thr228=)	18	ABAT	Benign	148143485	RCV000174149\|RCV000635273;	N	MedGen:CN169374\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862698	8862698	16:g.8862698G>A	ClinGen:CA200848	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.689C>G (p.Ser230Cys)	18	ABAT	Uncertain significance	-1	RCV002900296;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862703	8862703	NC_000016.9:g.8862703C>G	-
NM_020686.6(ABAT):c.693A>T (p.Lys231Asn)	18	ABAT	Uncertain significance	-1	RCV003076270;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862707	8862707	NC_000016.9:g.8862707A>T	-
NM_020686.6(ABAT):c.706A>G (p.Ile236Val)	18	ABAT	Uncertain significance	2142977210	RCV001990560;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862720	8862720	8862720	-
NM_020686.6(ABAT):c.708C>T (p.Ile236=)	18	ABAT	Conflicting interpretations of pathogenicity	778110660	RCV000402097;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862722	8862722	NC_000016.9:g.8862722C>T	ClinGen:CA7893271	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.731C>T (p.Pro244Leu)	18	ABAT	Uncertain significance	-1	RCV003047806;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862745	8862745	NC_000016.9:g.8862745C>T	-
NM_020686.6(ABAT):c.732C>G (p.Pro244=)	18	ABAT	Likely benign	2060021356	RCV002216364;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862746	8862746	8862746	-
NM_020686.6(ABAT):c.733A>G (p.Ile245Val)	18	ABAT	Uncertain significance	-1	RCV002994268;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862747	8862747	NC_000016.9:g.8862747A>G	-
NM_020686.6(ABAT):c.735C>T (p.Ile245=)	18	ABAT	Likely benign	367831947	RCV000964650;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862749	8862749	16:g.8862749C>T	-
NM_020686.6(ABAT):c.736G>C (p.Ala246Pro)	18	ABAT	Uncertain significance	768632370	RCV001942430;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862750	8862750	8862750	-
NM_020686.6(ABAT):c.740C>T (p.Pro247Leu)	18	ABAT	Uncertain significance	776487124	RCV001352533;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862754	8862754	8862754	-
NM_020686.6(ABAT):c.741G>A (p.Pro247=)	18	ABAT	Likely benign	201170840	RCV001425180;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862755	8862755	8862755	-
NM_020686.6(ABAT):c.748C>T (p.Arg250Trp)	18	ABAT	Likely benign	201397255	RCV000534276;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862762	8862762	NC_000016.9:g.8862762C>T	ClinGen:CA7893280	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.748C>G (p.Arg250Gly)	18	ABAT	Uncertain significance	-1	RCV003061235;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862762	8862762	NC_000016.9:g.8862762C>G	-
NM_020686.6(ABAT):c.749G>A (p.Arg250Gln)	18	ABAT	Uncertain significance	375002262	RCV000528450;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862763	8862763	NC_000016.9:g.8862763G>A	ClinGen:CA7893281	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.749G>T (p.Arg250Leu)	18	ABAT	Uncertain significance	375002262	RCV001910661;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862763	8862763	8862763	-
NM_020686.6(ABAT):c.751C>T (p.Leu251=)	18	ABAT	Likely benign	-1	RCV002847248;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862765	8862765		-
NM_020686.6(ABAT):c.759C>T (p.Tyr253=)	18	ABAT	Likely benign	2060022284	RCV002172756;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862773	8862773	8862773	-
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu)	18	ABAT	Uncertain significance	2060022335	RCV001305576;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862775	8862775	8862775	-
NM_020686.6(ABAT):c.763C>T (p.Leu255=)	18	ABAT	Likely benign	-1	RCV002776349;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862777	8862777		-
NM_020686.6(ABAT):c.770A>T (p.Glu257Val)	18	ABAT	Uncertain significance	1377874387	RCV000804966;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862784	8862784	16:g.8862784A>T	-
NM_020686.6(ABAT):c.771G>C (p.Glu257Asp)	18	ABAT	Uncertain significance	369478103	RCV000823512;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862785	8862785	16:g.8862785G>C	-
NM_020686.6(ABAT):c.772T>C (p.Phe258Leu)	18	ABAT	Uncertain significance	1179196079	RCV001051979;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862786	8862786	16:g.8862786T>C	-
NM_020686.6(ABAT):c.783G>C (p.Glu261Asp)	18	ABAT	Uncertain significance	777951918	RCV001974734;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862797	8862797	8862797	-
NM_020686.6(ABAT):c.789A>G (p.Gln263=)	18	ABAT	Likely benign	749392643	RCV002174161;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862803	8862803	8862803	-
NM_020686.6(ABAT):c.798G>A (p.Glu266=)	18	ABAT	Likely benign	-1	RCV002820960;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862812	8862812		-
NM_020686.6(ABAT):c.801C>T (p.Ala267=)	18	ABAT	Likely benign	377220277	RCV001434103;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862815	8862815	8862815	-
NM_020686.6(ABAT):c.803G>A (p.Arg268His)	18	ABAT	Uncertain significance	570490857	RCV000635265;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862817	8862817	NC_000016.9:g.8862817G>A	ClinGen:CA7893294	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.806G>A (p.Cys269Tyr)	18	ABAT	Uncertain significance	-1	RCV003047415;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862820	8862820	NC_000016.9:g.8862820G>A	-
NM_020686.6(ABAT):c.816+7C>A	18	ABAT	Benign/Likely benign	376046736	RCV000174151\|RCV000710068\|RCV001082449;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862837	8862837	16:g.8862837C>A	ClinGen:CA200850	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.816+16T>C	18	ABAT	Likely benign	-1	RCV002801626;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862846	8862846	NC_000016.9:g.8862846T>C	-
NM_020686.6(ABAT):c.816+18C>T	18	ABAT	Benign	770606061	RCV002086828;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862848	8862848	8862848	-
NM_020686.6(ABAT):c.816+19G>A	18	ABAT	Conflicting interpretations of pathogenicity	147226856	RCV002023857;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8862849	8862849	8862849	-
NC_000016.9:g.(?_8866617)_(8900284_?)dup	18	ABAT	Uncertain significance	-1	RCV001923148;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866617	8900284	-1	-
NM_020686.6(ABAT):c.817-20C>T	18	ABAT	Likely benign	2142993666	RCV002107132;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866617	8866617	8866617	-
NM_020686.6(ABAT):c.817-16C>T	18	ABAT	Likely benign	-1	RCV003057608;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866621	8866621	NC_000016.9:g.8866621C>T	-
NM_020686.6(ABAT):c.817-15C>A	18	ABAT	Likely benign	761188607	RCV002086868;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866622	8866622	8866622	-
NM_020686.6(ABAT):c.817-13C>T	18	ABAT	Likely benign	-1	RCV003035134;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866624	8866624	NC_000016.9:g.8866624C>T	-
NM_020686.6(ABAT):c.817-6A>G	18	ABAT	Benign	140106845	RCV000676431\|RCV001081650;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866631	8866631	NC_000016.9:g.8866631A>G	ClinGen:CA7893325	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.817-5T>A	18	ABAT	Likely benign	1424382157	RCV001317768;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866632	8866632	8866632	-
NM_020686.6(ABAT):c.817-2A>G	18	ABAT	Pathogenic	1555492932	RCV000505301;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866635	8866635	NC_000016.9:g.8866635A>G	ClinGen:CA394689185,OMIM:137150.0005	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.817-1G>T	18	ABAT	Likely pathogenic	-1	RCV003474418;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866636	8866636		-
NM_020686.6(ABAT):c.829_832del (p.Leu276_Ile277insTer)	18	ABAT	Pathogenic	-1	RCV003048238;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866647	8866650	NC_000016.9:g.8866649_8866652del	-
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr)	18	ABAT	Uncertain significance	540071491	RCV001115557;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866650	8866650	16:g.8866650T>C	-
NM_020686.6(ABAT):c.834G>A (p.Val278=)	18	ABAT	Likely benign	905413679	RCV002152107;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866654	8866654	8866654	-
NM_020686.6(ABAT):c.840T>C (p.Tyr280=)	18	ABAT	Likely benign	1596470323	RCV001463152;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866660	8866660	16:g.8866660T>C	-
NM_020686.6(ABAT):c.841C>T (p.Arg281Trp)	18	ABAT	Uncertain significance	755955325	RCV001036331;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866661	8866661	16:g.8866661C>T	-
NM_020686.6(ABAT):c.842G>A (p.Arg281Gln)	18	ABAT	Uncertain significance	-1	RCV002647212;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866662	8866662	NC_000016.9:g.8866662G>A	-
NM_020686.6(ABAT):c.844A>G (p.Lys282Glu)	18	ABAT	Uncertain significance	2142993736	RCV001922270;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866664	8866664	8866664	-
NM_020686.6(ABAT):c.848AGA[2] (p.Lys285del)	18	ABAT	Uncertain significance	748632743	RCV001925514;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866667	8866669	8866666	-
NM_020686.6(ABAT):c.857C>T (p.Thr286Met)	18	ABAT	Uncertain significance	778229930	RCV001326650;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866677	8866677	8866677	-
NM_020686.6(ABAT):c.858G>A (p.Thr286=)	18	ABAT	Likely benign	375480247	RCV000635277;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866678	8866678	16:g.8866678G>A	ClinGen:CA7893338	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.864dup (p.Gly289fs)	18	ABAT	Likely pathogenic	-1	RCV003460393;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866682	8866683		-
NM_020686.6(ABAT):c.866_874dup (p.Gly289_Ile291dup)	18	ABAT	Uncertain significance	2060152853	RCV001347018;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866683	8866684	8866683	-
NM_020686.6(ABAT):c.864C>T (p.Ala288=)	18	ABAT	Conflicting interpretations of pathogenicity	149855547	RCV000281494;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866684	8866684	NC_000016.9:g.8866684C>T	ClinGen:CA7893339	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.871A>G (p.Ile291Val)	18	ABAT	Uncertain significance	-1	RCV002710533;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866691	8866691	NC_000016.9:g.8866691A>G	-
NM_020686.6(ABAT):c.873C>T (p.Ile291=)	18	ABAT	Likely benign	775338476	RCV001899396;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866693	8866693	8866693	-
NM_020686.6(ABAT):c.874G>A (p.Val292Met)	18	ABAT	Uncertain significance	747354047	RCV000816550;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866694	8866694	16:g.8866694G>A	-
NM_020686.6(ABAT):c.879G>A (p.Glu293=)	18	ABAT	Likely benign	-1	RCV002635523;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866699	8866699		-
NM_020686.6(ABAT):c.882C>T (p.Pro294=)	18	ABAT	Likely benign	2060153469	RCV002190460;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866702	8866702	8866702	-
NM_020686.6(ABAT):c.885C>T (p.Ile295=)	18	ABAT	Likely benign	2142993787	RCV001451268;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866705	8866705	8866705	-
NM_020686.6(ABAT):c.891C>T (p.Ser297=)	18	ABAT	Likely benign	142228298	RCV000909985;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866711	8866711	16:g.8866711C>T	-
NM_020686.6(ABAT):c.891C>G (p.Ser297=)	18	ABAT	Likely benign	142228298	RCV002120442;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866711	8866711	8866711	-
NM_020686.6(ABAT):c.892G>A (p.Glu298Lys)	18	ABAT	Uncertain significance	1443323102	RCV001903081;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866712	8866712	8866712	-
NM_020686.6(ABAT):c.909C>T (p.His303=)	18	ABAT	Likely benign	532330605	RCV002219598;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866729	8866729	8866729	-
NM_020686.6(ABAT):c.915C>T (p.Ser305=)	18	ABAT	Likely benign	-1	RCV002866379;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866735	8866735		-
NM_020686.6(ABAT):c.916G>A (p.Asp306Asn)	18	ABAT	Uncertain significance	544512086	RCV001115558;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866736	8866736	16:g.8866736G>A	-
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp)	18	ABAT	Uncertain significance	757076760	RCV001316585;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866748	8866748	8866748	-
NM_020686.6(ABAT):c.929G>A (p.Arg310Gln)	18	ABAT	Uncertain significance	778974775	RCV000812993;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866749	8866749	16:g.8866749G>A	-
NM_020686.6(ABAT):c.936G>A (p.Leu312=)	18	ABAT	Likely benign	1596470421	RCV001407444;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866756	8866756	16:g.8866756G>A	-
NM_020686.6(ABAT):c.938G>C (p.Arg313Thr)	18	ABAT	Uncertain significance	2142993864	RCV001361080;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866758	8866758	8866758	-
NM_020686.6(ABAT):c.945C>T (p.Ile315=)	18	ABAT	Likely benign	368667677	RCV002072861;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866765	8866765	8866765	-
NM_020686.6(ABAT):c.945C>A (p.Ile315=)	18	ABAT	Likely benign	-1	RCV003075188;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866765	8866765		-
NM_020686.6(ABAT):c.950G>A (p.Arg317Lys)	18	ABAT	Uncertain significance	768443644	RCV001904964\|RCV002548002;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8866770	8866770	8866770	-
NM_020686.6(ABAT):c.954+10C>G	18	ABAT	Likely benign	-1	RCV002581417;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866784	8866784	NC_000016.9:g.8866784C>G	-
NM_020686.6(ABAT):c.954+12G>A	18	ABAT	Likely benign	372226894	RCV002148356;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866786	8866786	8866786	-
NM_020686.6(ABAT):c.954+13G>T	18	ABAT	Likely benign	-1	RCV002823772;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866787	8866787	NC_000016.9:g.8866787G>T	-
NM_020686.6(ABAT):c.954+14G>A	18	ABAT	Likely benign	2060156324	RCV002078724;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866788	8866788	8866788	-
NM_020686.6(ABAT):c.954+15C>T	18	ABAT	Likely benign	748546258	RCV002120631;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866789	8866789	8866789	-
NM_020686.6(ABAT):c.954+15C>A	18	ABAT	Likely benign	-1	RCV002871141;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866789	8866789	NC_000016.9:g.8866789C>A	-
NM_020686.6(ABAT):c.954+16C>T	18	ABAT	Benign/Likely benign	41311266	RCV000514396\|RCV002060182;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866790	8866790	16:g.8866790C>T	ClinGen:CA7893362	CN517202 not provided;
NM_020686.6(ABAT):c.954+17G>A	18	ABAT	Likely benign	896794473	RCV002116653;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8866791	8866791	8866791	-
NM_020686.6(ABAT):c.955-19C>T	18	ABAT	Likely benign	200209214	RCV002099772;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868728	8868728	8868728	-
NM_020686.6(ABAT):c.955-15C>T	18	ABAT	Likely benign	778033706	RCV002143665;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868732	8868732	8868732	-
NM_020686.6(ABAT):c.955-14T>G	18	ABAT	Likely benign	375655134	RCV002108677;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868733	8868733	8868733	-
NM_020686.6(ABAT):c.955-13C>A	18	ABAT	Likely benign	749756374	RCV002080765;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868734	8868734	8868734	-
NM_020686.6(ABAT):c.955-8C>A	18	ABAT	Likely benign	-1	RCV003047252;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868739	8868739	NC_000016.9:g.8868739C>A	-
NM_020686.6(ABAT):c.955-7C>T	18	ABAT	Likely benign	771443083	RCV001454189;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868740	8868740	16:g.8868740C>T	-
NM_020686.6(ABAT):c.955-4C>G	18	ABAT	Likely benign	774347728	RCV001484316;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868743	8868743	16:g.8868743C>G	-
NM_020686.6(ABAT):c.957T>G (p.His319Gln)	18	ABAT	Uncertain significance	886052431	RCV000336586;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868749	8868749	NC_000016.9:g.8868749T>G	ClinGen:CA10644430	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.959G>T (p.Gly320Val)	18	ABAT	Uncertain significance	-1	RCV003024747;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868751	8868751	NC_000016.9:g.8868751G>T	-
NM_020686.6(ABAT):c.961T>C (p.Cys321Arg)	18	ABAT	Uncertain significance	1458922038	RCV002049288;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868753	8868753	8868753	-
NM_020686.6(ABAT):c.963C>T (p.Cys321=)	18	ABAT	Likely benign	375537349	RCV001464006;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868755	8868755	8868755	-
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr)	18	ABAT	Uncertain significance	201221998	RCV000701642;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868756	8868756	NC_000016.9:g.8868756G>A	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.972G>T (p.Leu324Phe)	18	ABAT	Uncertain significance	-1	RCV003030274;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868764	8868764	NC_000016.9:g.8868764G>T	-
NM_020686.6(ABAT):c.975G>A (p.Val325=)	18	ABAT	Uncertain significance	761480429	RCV002031625;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868767	8868767	8868767	-
NM_020686.6(ABAT):c.978C>T (p.Asp326=)	18	ABAT	Conflicting interpretations of pathogenicity	201727625	RCV000533939;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868770	8868770	NC_000016.9:g.8868770C>T	ClinGen:CA277473818	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.979G>A (p.Glu327Lys)	18	ABAT	Uncertain significance	-1	RCV002895560;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868771	8868771	NC_000016.9:g.8868771G>A	-
NM_020686.6(ABAT):c.984C>A (p.Val328=)	18	ABAT	Benign	1641022	RCV000398799\|RCV000676432;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8868776	8868776	NC_000016.9:g.8868776C>A	ClinGen:CA7893393	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.990C>T (p.Thr330=)	18	ABAT	Likely benign	369874487	RCV001422211;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868782	8868782	8868782	-
NM_020686.6(ABAT):c.999C>T (p.Gly333=)	18	ABAT	Conflicting interpretations of pathogenicity	1353981722	RCV000518273\|RCV001393092;	N	MedGen:CN169374\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868791	8868791	NC_000016.9:g.8868791C>T	ClinGen:CA493496406	CN169374 not specified;
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met)	18	ABAT	Uncertain significance	2060222738	RCV002017743;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868796	8868796	8868796	-
NM_020686.6(ABAT):c.1005G>A (p.Thr335=)	18	ABAT	Likely benign	557375445	RCV001454705;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868797	8868797	8868797	-
NM_020686.6(ABAT):c.1018G>A (p.Ala340Thr)	18	ABAT	Uncertain significance	2060223213	RCV001965337;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868810	8868810	8868810	-
NM_020686.6(ABAT):c.1027C>T (p.His343Tyr)	18	ABAT	Uncertain significance	1280175936	RCV001943587;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868819	8868819	8868819	-
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp)	18	ABAT	Uncertain significance	2142996825	RCV001898562\|RCV003401844;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:CN169374	16	8868826	8868826	8868826	-
NM_020686.6(ABAT):c.1036C>G (p.Leu346Val)	18	ABAT	Uncertain significance	-1	RCV002800505;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868828	8868828	NC_000016.9:g.8868828C>G	-
NM_020686.6(ABAT):c.1039G>A (p.Asp347Asn)	18	ABAT	Uncertain significance	-1	RCV003038226;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868831	8868831	NC_000016.9:g.8868831G>A	-
NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)	18	ABAT	Uncertain significance	-1	RCV002634284;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868837	8868837	NC_000016.9:g.8868837C>T	-
NM_020686.6(ABAT):c.1047A>G (p.Pro349=)	18	ABAT	Likely benign	761184958	RCV002116302;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868839	8868839	8868839	-
NM_020686.6(ABAT):c.1049C>A (p.Ala350Glu)	18	ABAT	Uncertain significance	2060224233	RCV002026737;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868841	8868841	8868841	-
NM_020686.6(ABAT):c.1053C>T (p.Asp351=)	18	ABAT	Likely benign	772233141	RCV002079136;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868845	8868845	8868845	-
NM_020686.6(ABAT):c.1054G>A (p.Val352Met)	18	ABAT	Uncertain significance	775462540	RCV000315521\|RCV002521076;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8868846	8868846	NC_000016.9:g.8868846G>A	ClinGen:CA7893407	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1057A>G (p.Met353Val)	18	ABAT	Uncertain significance	760898650	RCV001905014;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868849	8868849	8868849	-
NM_020686.6(ABAT):c.1058T>G (p.Met353Arg)	18	ABAT	Uncertain significance	2060224524	RCV001049738;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868850	8868850	16:g.8868850T>G	-
NM_020686.6(ABAT):c.1062C>T (p.Thr354=)	18	ABAT	Likely benign	772989994	RCV002163697;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868854	8868854	8868854	-
NM_020686.6(ABAT):c.1075A>G (p.Met359Val)	18	ABAT	Uncertain significance	2060225110	RCV001339263;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868867	8868867	8868867	-
NM_020686.6(ABAT):c.1080G>A (p.Met360Ile)	18	ABAT	Uncertain significance	2142996879	RCV002012842;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868872	8868872	8868872	-
NM_020686.6(ABAT):c.1082C>G (p.Thr361Ser)	18	ABAT	Uncertain significance	774473099	RCV000635267;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868874	8868874	NC_000016.9:g.8868874C>G	ClinGen:CA7893415	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1089C>T (p.Gly363=)	18	ABAT	Likely benign	767008763	RCV001433809;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868881	8868881	8868881	-
NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)	18	ABAT	Uncertain significance	-1	RCV002659661;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868884	8868884	NC_000016.9:g.8868884C>A	-
NM_020686.6(ABAT):c.1094_1097dup (p.Lys367fs)	18	ABAT	Likely pathogenic	-1	RCV003476712;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868885	8868886		-
NM_020686.6(ABAT):c.1113G>A (p.Arg371=)	18	ABAT	Likely benign	1000294391	RCV001447109;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868905	8868905	8868905	-
NM_020686.6(ABAT):c.1122+11G>C	18	ABAT	Likely benign	-1	RCV002611258;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868925	8868925	NC_000016.9:g.8868925G>C	-
NM_020686.6(ABAT):c.1122+12C>T	18	ABAT	Likely benign	-1	RCV002975861;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8868926	8868926	NC_000016.9:g.8868926C>T	-
NM_020686.6(ABAT):c.1123-20A>C	18	ABAT	Likely benign	-1	RCV002851001;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870181	8870181	NC_000016.9:g.8870181A>C	-
NM_020686.6(ABAT):c.1123-15C>T	18	ABAT	Conflicting interpretations of pathogenicity	376574278	RCV000351624;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870186	8870186	NC_000016.9:g.8870186C>T	ClinGen:CA7893441	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1123-15C>G	18	ABAT	Likely benign	376574278	RCV002144505;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870186	8870186	8870186	-
NM_020686.6(ABAT):c.1123-14G>A	18	ABAT	Conflicting interpretations of pathogenicity	758870080	RCV001116986;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870187	8870187	16:g.8870187G>A	-
NM_020686.6(ABAT):c.1123-14G>T	18	ABAT	Likely benign	-1	RCV002705214;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870187	8870187	NC_000016.9:g.8870187G>T	-
NM_020686.6(ABAT):c.1123-1G>A	18	ABAT	Likely pathogenic	1596472500	RCV001379089;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870200	8870200	8870200	-
NM_020686.6(ABAT):c.1125C>G (p.Pro375=)	18	ABAT	Likely benign	755056622	RCV001491014;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870203	8870203	16:g.8870203C>G	-
NM_020686.6(ABAT):c.1125C>T (p.Pro375=)	18	ABAT	Likely benign	-1	RCV002994278;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870203	8870203		-
NM_020686.6(ABAT):c.1128C>G (p.Tyr376Ter)	18	ABAT	Pathogenic	-1	RCV002816224;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870206	8870206	NC_000016.9:g.8870206C>G	-
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)	18	ABAT	Uncertain significance	1330995774	RCV000505292;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870207	8870207	16:g.8870207C>T	ClinGen:CA394690145,OMIM:137150.0008	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1130G>A (p.Arg377Gln)	18	ABAT	Uncertain significance	370489933	RCV001914391;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870208	8870208	8870208	-
NM_020686.6(ABAT):c.1139A>G (p.Asn380Ser)	18	ABAT	Uncertain significance	1555493454	RCV000541313;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870217	8870217	16:g.8870217A>G	ClinGen:CA394690166	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)	18	ABAT	Conflicting interpretations of pathogenicity	770156912	RCV001116987;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870218	8870218	16:g.8870218C>T	-
NM_020686.6(ABAT):c.1147C>T (p.Leu383=)	18	ABAT	Benign	2229158	RCV000391177\|RCV000676433;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8870225	8870225	NC_000016.9:g.8870225C>T	ClinGen:CA7893449	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1148T>A (p.Leu383Gln)	18	ABAT	Uncertain significance	2142998232	RCV001938873;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870226	8870226	8870226	-
NM_020686.6(ABAT):c.1153G>T (p.Asp385Tyr)	18	ABAT	Uncertain significance	2142998238	RCV002269803;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870231	8870231	8870231	-
NM_020686.6(ABAT):c.1155C>A (p.Asp385Glu)	18	ABAT	Uncertain significance	2142998239	RCV001962012;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870233	8870233	8870233	-
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu)	18	ABAT	Uncertain significance	775339966	RCV000174789\|RCV001055246;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870235	8870235	16:g.8870235C>T	ClinGen:CA240367	CN169374 not specified;
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)	18	ABAT	Conflicting interpretations of pathogenicity	374865268	RCV000310986;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870236	8870236	NC_000016.9:g.8870236G>A	ClinGen:CA7893452	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1158G>T (p.Pro386=)	18	ABAT	Likely benign	-1	RCV002816557;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870236	8870236		-
NM_020686.6(ABAT):c.1163A>G (p.Lys388Arg)	18	ABAT	Uncertain significance	-1	RCV002701190;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870241	8870241	NC_000016.9:g.8870241A>G	-
NM_020686.6(ABAT):c.1168C>G (p.Leu390Val)	18	ABAT	Uncertain significance	537999087	RCV001955619;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870246	8870246	8870246	-
NM_020686.6(ABAT):c.1170G>T (p.Leu390=)	18	ABAT	Likely benign	1216400203	RCV002074705;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870248	8870248	8870248	-
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)	18	ABAT	Uncertain significance	-1	RCV003069182;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870250	8870250	NC_000016.9:g.8870250T>C	-
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile)	18	ABAT	Uncertain significance	1390975236	RCV001760942\|RCV002034463;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870261	8870261	8870261	-
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)	18	ABAT	Conflicting interpretations of pathogenicity	150914629	RCV000710366\|RCV001081050;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870264	8870264	NC_000016.9:g.8870264A>G	-
NM_020686.6(ABAT):c.1191C>T (p.Asn397=)	18	ABAT	Likely benign	764870964	RCV002145297;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870269	8870269	8870269	-
NM_020686.6(ABAT):c.1192A>C (p.Ile398Leu)	18	ABAT	Uncertain significance	2060264213	RCV001936540;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870270	8870270	8870270	-
NM_020686.6(ABAT):c.1194C>T (p.Ile398=)	18	ABAT	Likely benign	-1	RCV003081386;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870272	8870272		-
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln)	18	ABAT	Uncertain significance	187929750	RCV001507339\|RCV001882539;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870280	8870280	8870280	-
NM_020686.6(ABAT):c.1207G>A (p.Asp403Asn)	18	ABAT	Uncertain significance	751974207	RCV002016375;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870285	8870285	8870285	-
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly)	18	ABAT	Uncertain significance	1395351659	RCV001309291;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870286	8870286	8870286	-
NM_020686.6(ABAT):c.1210C>T (p.Leu404=)	18	ABAT	Likely benign	1256407713	RCV002089459;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870288	8870288	8870288	-
NM_020686.6(ABAT):c.1232C>A (p.Ala411Asp)	18	ABAT	Uncertain significance	-1	RCV002734949;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870310	8870310	NC_000016.9:g.8870310C>A	-
NM_020686.6(ABAT):c.1233C>T (p.Ala411=)	18	ABAT	Likely benign	147188899	RCV000525227;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870311	8870311	16:g.8870311C>T	ClinGen:CA7893461	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1233C>G (p.Ala411=)	18	ABAT	Likely benign	147188899	RCV002146910;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870311	8870311	8870311	-
NM_020686.6(ABAT):c.1233C>A (p.Ala411=)	18	ABAT	Likely benign	-1	RCV003067762;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870311	8870311		-
NM_020686.6(ABAT):c.1238A>G (p.Lys413Arg)	18	ABAT	Uncertain significance	-1	RCV002297887;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870316	8870316	8870316	-
NM_020686.6(ABAT):c.1239G>C (p.Lys413Asn)	18	ABAT	Uncertain significance	2060265382	RCV002029361;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870317	8870317	8870317	-
NM_020686.6(ABAT):c.1241C>T (p.Ala414Val)	18	ABAT	Uncertain significance	771801237	RCV002000442;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870319	8870319	8870319	-
NM_020686.6(ABAT):c.1254A>T (p.Gly418=)	18	ABAT	Likely benign	140640183	RCV001219288;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870332	8870332	16:g.8870332A>T	-
NM_020686.6(ABAT):c.1269+4A>C	18	ABAT	Benign	183947905	RCV000365701\|RCV000676434;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8870351	8870351	NC_000016.9:g.8870351A>C	ClinGen:CA7893475	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1269+6A>G	18	ABAT	Uncertain significance	372790444	RCV000701440;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870353	8870353	16:g.8870353A>G	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1269+7C>T	18	ABAT	Likely benign	751971295	RCV000935738;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870354	8870354	16:g.8870354C>T	-
NM_020686.6(ABAT):c.1269+9C>G	18	ABAT	Likely benign	2142998394	RCV001495975;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870356	8870356	8870356	-
NM_020686.6(ABAT):c.1269+18G>A	18	ABAT	Likely benign	1567317709	RCV002085970;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870365	8870365	8870365	-
NM_020686.6(ABAT):c.1269+20C>T	18	ABAT	Likely benign	-1	RCV003043586;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8870367	8870367	NC_000016.9:g.8870367C>T	-
NC_000016.9:g.(?_8873316)_(8875287_?)dup	18	ABAT	Uncertain significance	-1	RCV003109725;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873316	8875287		-
NM_020686.6(ABAT):c.1270-19T>G	18	ABAT	Likely benign	-1	RCV002635501;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873317	8873317	NC_000016.9:g.8873317T>G	-
NM_020686.6(ABAT):c.1270-14T>C	18	ABAT	Likely benign	200844116	RCV002119867;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873322	8873322	8873322	-
NM_020686.6(ABAT):c.1270-4A>G	18	ABAT	Benign	12447235	RCV000271121\|RCV000676435;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8873332	8873332	NC_000016.9:g.8873332A>G	ClinGen:CA7893506	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr)	18	ABAT	Uncertain significance	886052432	RCV000307486;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873336	8873336	NC_000016.9:g.8873336G>A	ClinGen:CA10638515	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1273C>T (p.Arg425Trp)	18	ABAT	Uncertain significance	-1	RCV003070410;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873339	8873339	NC_000016.9:g.8873339C>T	-
NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln)	18	ABAT	Uncertain significance	368127499	RCV000694538;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873340	8873340	NC_000016.9:g.8873340G>A	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu)	18	ABAT	Uncertain significance	368127499	RCV001297733;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873340	8873340	8873340	-
NM_020686.6(ABAT):c.1278C>T (p.Tyr426=)	18	ABAT	Benign	372283568	RCV002079568;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873344	8873344	8873344	-
NM_020686.6(ABAT):c.1282C>G (p.Gln428Glu)	18	ABAT	Uncertain significance	746205242	RCV001981797\|RCV002562889;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8873348	8873348	8873348	-
NM_020686.6(ABAT):c.1287C>A (p.Phe429Leu)	18	ABAT	Uncertain significance	772526517	RCV001870679;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873353	8873353	8873353	-
NM_020686.6(ABAT):c.1293C>T (p.Ser431=)	18	ABAT	Likely benign	2143002708	RCV002209554;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873359	8873359	8873359	-
NM_020686.6(ABAT):c.1297del (p.Arg432_Val433insTer)	18	ABAT	Likely pathogenic	-1	RCV003460305;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873361	8873361		-
NM_020686.6(ABAT):c.1296G>A (p.Arg432=)	18	ABAT	Likely benign	-1	RCV003065543;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873362	8873362		-
NM_020686.6(ABAT):c.1307G>A (p.Arg436Gln)	18	ABAT	Uncertain significance	764665721	RCV000706458;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873373	8873373	NC_000016.9:g.8873373G>A	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1311C>T (p.Gly437=)	18	ABAT	Uncertain significance	1481554008	RCV002030318;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873377	8873377	8873377	-
NM_020686.6(ABAT):c.1323del (p.Phe442fs)	18	ABAT	Uncertain significance	2060370206	RCV001038172;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873388	8873388	16:g.8873388_8873388del	-
NM_020686.6(ABAT):c.1323C>T (p.Ser441=)	18	ABAT	Likely benign	1233713916	RCV002204784;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873389	8873389	8873389	-
NM_020686.6(ABAT):c.1324T>G (p.Phe442Val)	18	ABAT	Uncertain significance	2143002786	RCV002045201;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873390	8873390	8873390	-
NM_020686.6(ABAT):c.1326C>T (p.Phe442=)	18	ABAT	Likely benign	201566019	RCV000676436\|RCV001467122;	N	MedGen:C3661900\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873392	8873392	16:g.8873392C>T	-	CN517202 not provided;
NM_020686.6(ABAT):c.1326C>A (p.Phe442Leu)	18	ABAT	Uncertain significance	201566019	RCV001926508;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873392	8873392	8873392	-
NM_020686.6(ABAT):c.1327G>A (p.Asp443Asn)	18	ABAT	Uncertain significance	750680169	RCV002045648;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873393	8873393	8873393	-
NM_020686.6(ABAT):c.1327G>C (p.Asp443His)	18	ABAT	Uncertain significance	-1	RCV002305094;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873393	8873393	8873393	-
NM_020686.6(ABAT):c.1333C>T (p.Pro445Ser)	18	ABAT	Uncertain significance	1345863425	RCV001877686;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873399	8873399	8873399	-
NM_020686.6(ABAT):c.1336G>A (p.Asp446Asn)	18	ABAT	Uncertain significance	-1	RCV002599606;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873402	8873402	NC_000016.9:g.8873402G>A	-
NM_020686.6(ABAT):c.1338T>C (p.Asp446=)	18	ABAT	Likely benign	756005421	RCV001391811;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873404	8873404	16:g.8873404T>C	-
NM_020686.6(ABAT):c.1344C>T (p.Ser448=)	18	ABAT	Likely benign	2143002825	RCV002075991;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873410	8873410	8873410	-
NM_020686.6(ABAT):c.1345A>G (p.Ile449Val)	18	ABAT	Uncertain significance	147782370	RCV001960316;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873411	8873411	8873411	-
NM_020686.6(ABAT):c.1348C>T (p.Arg450Trp)	18	ABAT	Uncertain significance	748725086	RCV000701995;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873414	8873414	NC_000016.9:g.8873414C>T	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1349G>A (p.Arg450Gln)	18	ABAT	Uncertain significance	374692453	RCV000635269;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873415	8873415	16:g.8873415G>A	ClinGen:CA7893528	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1353T>A (p.Asn451Lys)	18	ABAT	Uncertain significance	778319783	RCV002036606;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873419	8873419	8873419	-
NM_020686.6(ABAT):c.1354A>T (p.Lys452Ter)	18	ABAT	Uncertain significance	1596474539	RCV000824235;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873420	8873420	16:g.8873420A>T	-
NM_020686.6(ABAT):c.1356G>T (p.Lys452Asn)	18	ABAT	Uncertain significance	1219517329	RCV001339515;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873422	8873422	8873422	-
NM_020686.6(ABAT):c.1363T>G (p.Leu455Val)	18	ABAT	Uncertain significance	1555493999	RCV000524879;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873429	8873429	16:g.8873429T>G	ClinGen:CA394690712	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1366A>G (p.Ile456Val)	18	ABAT	Uncertain significance	1485966037	RCV001887281;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873432	8873432	8873432	-
NM_020686.6(ABAT):c.1367T>C (p.Ile456Thr)	18	ABAT	Uncertain significance	-1	RCV002618283;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873433	8873433	NC_000016.9:g.8873433T>C	-
NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)	18	ABAT	Uncertain significance	-1	RCV002647412;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873435	8873435	NC_000016.9:g.8873435G>A	-
NM_020686.6(ABAT):c.1370C>T (p.Ala457Val)	18	ABAT	Uncertain significance	769027199	RCV001995586;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873436	8873436	8873436	-
NM_020686.6(ABAT):c.1381+1G>T	18	ABAT	Uncertain significance	-1	RCV003054476;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873448	8873448	NC_000016.9:g.8873448G>T	-
NM_020686.6(ABAT):c.1381+6G>T	18	ABAT	Uncertain significance	777241102	RCV001305264\|RCV002543129;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8873453	8873453	8873453	-
NM_020686.6(ABAT):c.1381+6G>A	18	ABAT	Uncertain significance	777241102	RCV001981942;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873453	8873453	8873453	-
NM_020686.6(ABAT):c.1381+9T>C	18	ABAT	Benign	1079348	RCV000362298\|RCV000676437;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8873456	8873456	NC_000016.9:g.8873456T>C	ClinGen:CA7893536	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1381+46C>T	18	ABAT	Benign	1079349	RCV001544145;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8873493	8873493	8873493	-
NM_020686.6(ABAT):c.1382-119GATG[6]	18	ABAT	Benign	3217123	RCV001544147;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875047	8875050	8875046	-
NM_020686.6(ABAT):c.1382-16C>T	18	ABAT	Likely benign	-1	RCV003077815;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875150	8875150	NC_000016.9:g.8875150C>T	-
NM_020686.6(ABAT):c.1382-10C>T	18	ABAT	Likely benign	2060432035	RCV002119473;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875156	8875156	8875156	-
NM_020686.6(ABAT):c.1382-9C>T	18	ABAT	Likely benign	1404962969	RCV001481550;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875157	8875157	8875157	-
NM_020686.6(ABAT):c.1384G>A (p.Val462Met)	18	ABAT	Uncertain significance	-1	RCV002903531;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875168	8875168	NC_000016.9:g.8875168G>A	-
NM_020686.6(ABAT):c.1387G>A (p.Val463Met)	18	ABAT	Uncertain significance	757912430	RCV001315302;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875171	8875171	8875171	-
NM_020686.6(ABAT):c.1389G>A (p.Val463=)	18	ABAT	Conflicting interpretations of pathogenicity	2060432508	RCV001120258;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875173	8875173	16:g.8875173G>A	-
NM_020686.6(ABAT):c.1392G>A (p.Leu464=)	18	ABAT	Uncertain significance	140054038	RCV001996093;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875176	8875176	8875176	-
NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg)	18	ABAT	Pathogenic	781555217	RCV000786415;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875177	8875177	16:g.8875177G>C	-
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp)	18	ABAT	Conflicting interpretations of pathogenicity	1057523345	RCV000437522\|RCV000786417;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875178	8875178	NC_000016.9:g.8875178G>A	ClinGen:CA16607451	CN169374 not specified;
NM_020686.6(ABAT):c.1407C>G (p.Asp469Glu)	18	ABAT	Uncertain significance	-1	RCV002650080;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875191	8875191	NC_000016.9:g.8875191C>G	-
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr)	18	ABAT	Uncertain significance	1596475613	RCV000813499;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875194	8875195	NC_000016.9:g.8875194_8875195delinsGA	-
NM_020686.6(ABAT):c.1412C>G (p.Ser471Cys)	18	ABAT	Uncertain significance	768495738	RCV001901702;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875196	8875196	8875196	-
NM_020686.6(ABAT):c.1421T>G (p.Phe474Cys)	18	ABAT	Uncertain significance	1280757572	RCV002030055;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875205	8875205	8875205	-
NM_020686.6(ABAT):c.1423C>T (p.Arg475Cys)	18	ABAT	Uncertain significance	-1	RCV002300378;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875207	8875207	8875207	-
NM_020686.6(ABAT):c.1424G>A (p.Arg475His)	18	ABAT	Uncertain significance	762137050	RCV001965073;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875208	8875208	8875208	-
NM_020686.6(ABAT):c.1429A>G (p.Thr477Ala)	18	ABAT	Uncertain significance	1292109941	RCV002000701;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875213	8875213	8875213	-
NM_020686.6(ABAT):c.1430C>T (p.Thr477Met)	18	ABAT	Uncertain significance	778305265	RCV001233171;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875214	8875214	16:g.8875214C>T	-
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)	18	ABAT	Conflicting interpretations of pathogenicity	573157071	RCV001120259;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875215	8875215	16:g.8875215G>A	-
NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro)	18	ABAT	Pathogenic	724159991	RCV000149899;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875217	8875217	NC_000016.9:g.8875217T>C	ClinGen:CA175088,OMIM:137150.0007	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1435G>T (p.Val479Phe)	18	ABAT	Uncertain significance	1555494309	RCV000635268;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875219	8875219	NC_000016.9:g.8875219G>T	ClinGen:CA394691574	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1449C>A (p.His483Gln)	18	ABAT	Uncertain significance	-1	RCV002613974\|RCV002613973;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MeSH:D030342,MedGen:C0950123	16	8875233	8875233	NC_000016.9:g.8875233C>A	-
NM_020686.6(ABAT):c.1452C>T (p.His484=)	18	ABAT	Benign	61730647	RCV000267672\|RCV000710367;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8875236	8875236	NC_000016.9:g.8875236C>T	ClinGen:CA7893577	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1454C>G (p.Ala485Gly)	18	ABAT	Uncertain significance	-1	RCV002745738;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875238	8875238	NC_000016.9:g.8875238C>G	-
NM_020686.6(ABAT):c.1459C>G (p.Leu487Val)	18	ABAT	Uncertain significance	-1	RCV002820526;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875243	8875243	NC_000016.9:g.8875243C>G	-
NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro)	18	ABAT	Pathogenic	1555494322	RCV000505328;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875244	8875244	16:g.8875244T>C	ClinGen:CA394691640,OMIM:137150.0006	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1488A>G (p.Leu496=)	18	ABAT	Likely benign	772187224	RCV002101311;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875272	8875272	8875272	-
NM_020686.6(ABAT):c.1491A>G (p.Ala497=)	18	ABAT	Likely benign	1290355155	RCV002195198;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875275	8875275	8875275	-
NM_020686.6(ABAT):c.1491A>C (p.Ala497=)	18	ABAT	Likely benign	1290355155	RCV002119480;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875275	8875275	8875275	-
NM_020686.6(ABAT):c.1492G>A (p.Asp498Asn)	18	ABAT	Uncertain significance	-1	RCV003069371;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875276	8875276	NC_000016.9:g.8875276G>A	-
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?)	18	ABAT	Uncertain significance	756457894	RCV000729364\|RCV001035540;	N	MedGen:CN517202\|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875282	8875286	NC_000016.9:g.8875285_8875289del	-
NM_020686.6(ABAT):c.1498A>G (p.Lys500Glu)	18	ABAT	Uncertain significance	-1	RCV003025641;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875282	8875282	NC_000016.9:g.8875282A>G	-
NM_020686.6(ABAT):c.*31C>T	18	ABAT	Benign	147333757	RCV001120260;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875318	8875318	16:g.8875318C>T	-
NM_020686.6(ABAT):c.*32G>A	18	ABAT	Benign	737696	RCV001120261;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875319	8875319	16:g.8875319G>A	-
NM_020686.6(ABAT):c.*99G>C	18	ABAT	Benign	76717569	RCV000322793;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875386	8875386	NC_000016.9:g.8875386G>C	ClinGen:CA10644435	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*165A>T	18	ABAT	Benign	55638039	RCV000377456;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875452	8875452	NC_000016.9:g.8875452A>T	ClinGen:CA10648215	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*204A>G	18	ABAT	Benign	141010230	RCV001120245;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875491	8875491	16:g.8875491A>G	-
NM_020686.6(ABAT):c.*242G>T	18	ABAT	Benign	2270288	RCV000264800;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875529	8875529	NC_000016.9:g.8875529G>T	ClinGen:CA10648217	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*244C>A	18	ABAT	Benign	2270289	RCV000319883;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875531	8875531	NC_000016.9:g.8875531C>A	ClinGen:CA10638516	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*258G>C	18	ABAT	Benign	737695	RCV000374511;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875545	8875545	NC_000016.9:g.8875545G>C	ClinGen:CA10648219	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*259G>A	18	ABAT	Uncertain significance	886052433	RCV000280009;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875546	8875546	NC_000016.9:g.8875546G>A	ClinGen:CA10649095	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*283T>C	18	ABAT	Uncertain significance	142722977	RCV001120559;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875570	8875570	16:g.8875570T>C	-
NM_020686.6(ABAT):c.*298C>T	18	ABAT	Benign	737694	RCV000334962;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875585	8875585	NC_000016.9:g.8875585C>T	ClinGen:CA10648220	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*316A>C	18	ABAT	Uncertain significance	1596475891	RCV001115648;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875603	8875603	16:g.8875603A>C	-
NM_020686.6(ABAT):c.*318T>C	18	ABAT	Benign	78352097	RCV000389485;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875605	8875605	NC_000016.9:g.8875605T>C	ClinGen:CA10638517	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*416C>T	18	ABAT	Uncertain significance	76000284	RCV001115649;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875703	8875703	16:g.8875703C>T	-
NM_020686.6(ABAT):c.*426C>T	18	ABAT	Uncertain significance	2060446680	RCV001115650;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875713	8875713	16:g.8875713C>T	-
NM_020686.6(ABAT):c.*430C>T	18	ABAT	Uncertain significance	886052434	RCV000295216;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875717	8875717	NC_000016.9:g.8875717C>T	ClinGen:CA10648221	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*435G>A	18	ABAT	Uncertain significance	572396439	RCV001115651;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875722	8875722	16:g.8875722G>A	-
NM_020686.6(ABAT):c.*476T>C	18	ABAT	Benign	1731071	RCV000350077;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875763	8875763	NC_000016.9:g.8875763T>C	ClinGen:CA10638524	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*479C>T	18	ABAT	Uncertain significance	886052435	RCV000400927;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875766	8875766	NC_000016.9:g.8875766C>T	ClinGen:CA10649099	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*493C>T	18	ABAT	Uncertain significance	781153961	RCV000309041;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875780	8875780	NC_000016.9:g.8875780C>T	ClinGen:CA10649101	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*512G>A	18	ABAT	Benign	3743798	RCV000345259;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875799	8875799	NC_000016.9:g.8875799G>A	ClinGen:CA10644437	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*539C>T	18	ABAT	Likely benign	548945558	RCV001117074;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875826	8875826	16:g.8875826C>T	-
NM_020686.6(ABAT):c.*571A>C	18	ABAT	Benign	1641031	RCV000392956;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875858	8875858	NC_000016.9:g.8875858A>C	ClinGen:CA10649104	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*574A>G	18	ABAT	Benign	1641032	RCV000305624;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875861	8875861	NC_000016.9:g.8875861A>G	ClinGen:CA10644439	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*578G>A	18	ABAT	Uncertain significance	2060450686	RCV001117075;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8875865	8875865	16:g.8875865G>A	-
NM_020686.6(ABAT):c.*717G>A	18	ABAT	Uncertain significance	563004736	RCV001117076;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876004	8876004	16:g.8876004G>A	-
NM_020686.6(ABAT):c.*915C>G	18	ABAT	Benign	3743801	RCV000360321;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876202	8876202	NC_000016.9:g.8876202C>G	ClinGen:CA10638525	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*942C>T	18	ABAT	Uncertain significance	886052436	RCV000265597;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876229	8876229	NC_000016.9:g.8876229C>T	ClinGen:CA10644440	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*959T>A	18	ABAT	Uncertain significance	750089237	RCV001118708;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876246	8876246	16:g.8876246T>A	-
NM_020686.6(ABAT):c.*989T>C	18	ABAT	Likely benign	533930699	RCV001118709;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876276	8876276	16:g.8876276T>C	-
NM_020686.6(ABAT):c.*990G>C	18	ABAT	Benign	4985000	RCV000302021;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876277	8876277	NC_000016.9:g.8876277G>C	ClinGen:CA10638529	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1051C>T	18	ABAT	Uncertain significance	1275277312	RCV001118710;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876338	8876338	16:g.8876338C>T	-
NM_020686.6(ABAT):c.*1075C>T	18	ABAT	Likely benign	117516993	RCV001118711;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876362	8876362	16:g.8876362C>T	-
NM_020686.6(ABAT):c.*1110A>C	18	ABAT	Uncertain significance	886052437	RCV000356444;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876397	8876397	NC_000016.9:g.8876397A>C	ClinGen:CA10648222	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1131G>A	18	ABAT	Benign	7205816	RCV000261569;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876418	8876418	16:g.8876418G>A	ClinGen:CA10648226	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1133G>A	18	ABAT	Benign	77110218	RCV000316898;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876420	8876420	16:g.8876420G>A	ClinGen:CA10649105	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1142G>T	18	ABAT	Uncertain significance	574524165	RCV000371486;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876429	8876429	16:g.8876429G>T	ClinGen:CA10648229	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1193G>T	18	ABAT	Uncertain significance	755959210	RCV001120655;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876480	8876480	16:g.8876480G>T	-
NM_020686.6(ABAT):c.*1202G>A	18	ABAT	Likely benign	75730008	RCV000277027;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876489	8876489	16:g.8876489G>A	ClinGen:CA10644443	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1210T>C	18	ABAT	Benign	17674530	RCV000332123;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876497	8876497	16:g.8876497T>C	ClinGen:CA10648230	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1311C>A	18	ABAT	Likely benign	532670980	RCV001120656;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876598	8876598	16:g.8876598C>A	-
NM_020686.6(ABAT):c.*1319C>G	18	ABAT	Uncertain significance	186937149	RCV000386673;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876606	8876606	16:g.8876606C>G	ClinGen:CA10644444	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1333A>G	18	ABAT	Benign	17566580	RCV000292439;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876620	8876620	16:g.8876620A>G	ClinGen:CA10638533	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1393C>T	18	ABAT	Uncertain significance	537653612	RCV001115736;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876680	8876680	16:g.8876680C>T	-
NM_020686.6(ABAT):c.*1405C>T	18	ABAT	Benign	7201586	RCV000329279;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876692	8876692	16:g.8876692C>T	ClinGen:CA10648231	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1416T>A	18	ABAT	Uncertain significance	553436440	RCV000383807;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876703	8876703	16:g.8876703T>A	ClinGen:CA10638537	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1483G>T	18	ABAT	Uncertain significance	139932869	RCV000289334;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876770	8876770	16:g.8876770G>T	ClinGen:CA10644446	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1501A>G	18	ABAT	Benign	17651562	RCV000344359;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876788	8876788	16:g.8876788A>G	ClinGen:CA10638541	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.1515_1516dup	18	ABAT	Uncertain significance	756127537	RCV000400249;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876792	8876793	16:g.8876792_8876793insTT	ClinGen:CA10644447	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1516del	18	ABAT	Uncertain significance	756127537	RCV000285707;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876793	8876793	NC_000016.9:g.8876803del	ClinGen:CA10638546	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1558G>A	18	ABAT	Benign	45515994	RCV000340779;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876845	8876845	NC_000016.9:g.8876845G>A	ClinGen:CA10649107	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1575A>G	18	ABAT	Benign	45615432	RCV000401084;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876862	8876862	NC_000016.9:g.8876862A>G	ClinGen:CA10649109	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1593T>A	18	ABAT	Benign	1061842	RCV000301413;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876880	8876880	NC_000016.9:g.8876880T>A	ClinGen:CA10649112	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1593T>C	18	ABAT	Uncertain significance	1061842	RCV001117164;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876880	8876880	16:g.8876880T>C	-
NM_020686.6(ABAT):c.*1602G>A	18	ABAT	Uncertain significance	1477666290	RCV001117165;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876889	8876889	16:g.8876889G>A	-
NM_020686.6(ABAT):c.*1698C>G	18	ABAT	Uncertain significance	2060477590	RCV001117166;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876985	8876985	16:g.8876985C>G	-
NM_020686.6(ABAT):c.*1704G>C	18	ABAT	Uncertain significance	752676943	RCV000356238;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8876991	8876991	NC_000016.9:g.8876991G>C	ClinGen:CA10648234	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1765TTCA[2]	18	ABAT	Likely benign	148513949	RCV000391822;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877049	8877052	NC_000016.9:g.8877052TTCA[2]	ClinGen:CA10648236	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1771C>G	18	ABAT	Uncertain significance	543197540	RCV001117167;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877058	8877058	16:g.8877058C>G	-
NM_020686.6(ABAT):c.*1814T>C	18	ABAT	Uncertain significance	41312250	RCV000297743;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877101	8877101	NC_000016.9:g.8877101T>C	ClinGen:CA10638548	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1819G>A	18	ABAT	Benign	78819878	RCV000371391;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877106	8877106	NC_000016.9:g.8877106G>A	ClinGen:CA10648237	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1826C>T	18	ABAT	Uncertain significance	886052441	RCV000276816;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877113	8877113	NC_000016.9:g.8877113C>T	ClinGen:CA10648240	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1861C>A	18	ABAT	Uncertain significance	549811316	RCV001118795;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877148	8877148	16:g.8877148C>A	-
NM_020686.6(ABAT):c.*1862C>T	18	ABAT	Uncertain significance	1406159963	RCV001118796;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877149	8877149	16:g.8877149C>T	-
NM_020686.6(ABAT):c.*1907A>G	18	ABAT	Uncertain significance	886052442	RCV000331791;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877194	8877194	NC_000016.9:g.8877194A>G	ClinGen:CA10638549	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1922G>A	18	ABAT	Uncertain significance	116752370	RCV000367807;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877209	8877209	NC_000016.9:g.8877209G>A	ClinGen:CA10638551	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1933T>C	18	ABAT	Benign	4985036	RCV000271048;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877220	8877220	NC_000016.9:g.8877220T>C	ClinGen:CA10648242	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1965C>T	18	ABAT	Uncertain significance	553329538	RCV000326069;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877252	8877252	NC_000016.9:g.8877252C>T	ClinGen:CA10644448	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1976C>A	18	ABAT	Uncertain significance	886052443	RCV000380814;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877263	8877263	NC_000016.9:g.8877263C>A	ClinGen:CA10638553	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*1988C>T	18	ABAT	Uncertain significance	886052444	RCV000286390;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877275	8877275	NC_000016.9:g.8877275C>T	ClinGen:CA10649116	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2059C>A	18	ABAT	Uncertain significance	2060484570	RCV001120755;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877346	8877346	16:g.8877346C>A	-
NM_020686.6(ABAT):c.*2070G>C	18	ABAT	Uncertain significance	150364609	RCV001120756;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877357	8877357	16:g.8877357G>C	-
NM_020686.6(ABAT):c.*2074A>C	18	ABAT	Likely benign	191157077	RCV000322741;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877361	8877361	NC_000016.9:g.8877361A>C	ClinGen:CA10649117	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2089G>A	18	ABAT	Uncertain significance	1166367154	RCV001120757;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877376	8877376	16:g.8877376G>A	-
NM_020686.6(ABAT):c.*2114G>A	18	ABAT	Benign	11648372	RCV000377409;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877401	8877401	NC_000016.9:g.8877401G>A	ClinGen:CA10649119	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2193T>G	18	ABAT	Uncertain significance	1045051678	RCV001115817;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877480	8877480	16:g.8877480T>G	-
NM_020686.6(ABAT):c.*2276G>C	18	ABAT	Uncertain significance	552096436	RCV000284851;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877563	8877563	NC_000016.9:g.8877563G>C	ClinGen:CA10649125	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2284A>C	18	ABAT	Uncertain significance	984367608	RCV001115818;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877571	8877571	16:g.8877571A>C	-
NM_020686.6(ABAT):c.*2300G>A	18	ABAT	Uncertain significance	886052445	RCV000337503;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877587	8877587	NC_000016.9:g.8877587G>A	ClinGen:CA10649126	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2304T>A	18	ABAT	Benign	9456	RCV000390017;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877591	8877591	NC_000016.9:g.8877591T>A	ClinGen:CA10638554	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2308A>G	18	ABAT	Uncertain significance	1039454012	RCV001115819;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877595	8877595	16:g.8877595A>G	-
NM_020686.6(ABAT):c.*2352G>C	18	ABAT	Uncertain significance	886052446	RCV000278885;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877639	8877639	NC_000016.9:g.8877639G>C	ClinGen:CA10649129	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2545C>T	18	ABAT	Benign	8275	RCV000336177;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877832	8877832	NC_000016.9:g.8877832C>T	ClinGen:CA10648243	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2567C>G	18	ABAT	Benign	12597124	RCV000398947;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877854	8877854	NC_000016.9:g.8877854C>G	ClinGen:CA10648244	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2629G>A	18	ABAT	Likely benign	186857840	RCV001117254;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877916	8877916	16:g.8877916G>A	-
NM_020686.6(ABAT):c.*2642T>G	18	ABAT	Uncertain significance	538092815	RCV000315045;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877929	8877929	NC_000016.9:g.8877929T>G	ClinGen:CA10638555	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2698C>G	18	ABAT	Uncertain significance	922229332	RCV001117255;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877985	8877985	16:g.8877985C>G	-
NM_020686.6(ABAT):c.*2712T>C	18	ABAT	Uncertain significance	2060496519	RCV001117256;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8877999	8877999	16:g.8877999T>C	-
NM_020686.6(ABAT):c.*2744G>C	18	ABAT	Benign	192892941	RCV001117257;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878031	8878031	16:g.8878031G>C	-
NM_020686.6(ABAT):c.*2749T>C	18	ABAT	Uncertain significance	542532328	RCV000367348;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878036	8878036	NC_000016.9:g.8878036T>C	ClinGen:CA10644450	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2783G>A	18	ABAT	Uncertain significance	572474401	RCV001118890;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878070	8878070	16:g.8878070G>A	-
NM_020686.6(ABAT):c.*2794C>G	18	ABAT	Uncertain significance	886052447	RCV000391051;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878081	8878081	NC_000016.9:g.8878081C>G	ClinGen:CA10644451	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2884T>C	18	ABAT	Conflicting interpretations of pathogenicity	10261	RCV000309271\|RCV002510854;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MedGen:C3661900	16	8878171	8878171	NC_000016.9:g.8878171T>C	ClinGen:CA10638559	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*2986T>C	18	ABAT	Benign	79763179	RCV000366042;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878273	8878273	NC_000016.9:g.8878273T>C	ClinGen:CA10649132	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*3020A>G	18	ABAT	Uncertain significance	886052448	RCV000269023;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878307	8878307	NC_000016.9:g.8878307A>G	ClinGen:CA10648245	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*3039del	18	ABAT	Likely benign	766850207	RCV000326391;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878317	8878317	NC_000016.9:g.8878326del	ClinGen:CA10648248	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.*3059C>T	18	ABAT	Uncertain significance	886052449	RCV000360091;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878346	8878346	NC_000016.9:g.8878346C>T	ClinGen:CA10649133	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NM_020686.6(ABAT):c.3110_3113del	18	ABAT	Likely benign	147433667	RCV000268018;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066	16	8878394	8878397	NC_000016.9:g.8878397_8878400del	ClinGen:CA10649136	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency;
NC_000016.10:g.(?_8764049)_(8811733_?)dup	-1	ABAT;PMM2;TMEM186	Uncertain significance	-1	RCV001031564\|RCV003106102;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066\|MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065, Orphanet:79318	16	8857906	8905590	-1	-
GRCh37/hg19 16p13.2(chr16:8851612-8943194)x3	-1	TMEM186;PMM2;ABAT	not provided	-1	RCV001535646;	N	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163, Orphanet:2066; MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065, Orphanet:79318	16	8851612	8943194	-1	-

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