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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: Glycogen Storage Disease Type I (D005953)
..Starting node ..Glycogen Storage Disease IB (C562594)
Child Nodes:
Sister Nodes:
..Glucose-6-phosphate translocase deficiency (C536831)
..Glycogen Storage Disease IB (C562594)
..Glycogen Storage Disease Id (C562806)
..Hepatorenal form of glycogen storage disease (C538655)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5166

Name:

Glycogen Storage Disease IB

Definition:

Alternative IDs:

OMIM:232220

ParentIDs:

MESH:D005953

TreeNumbers:

C16.320.565.202.449.448/C562594 |C18.452.648.202.449.448/C562594

Synonyms:

Glucose-6-Phosphate Transport Defect |GSD1B |GSD Ib

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C562594
MeSH: C562594
OMIM: 232220;
MSeqDR :
Genes: FLNA; SLC37A4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0012213	Decreased glomerular filtration rate
3	HP:0000823	Delayed puberty NAMDC: Prolonged pubertal growth spurt
4	HP:0000295	Doll-like facies
5	HP:0002910	Elevated hepatic transaminases
6	HP:0000105	Enlarged kidney
7	HP:0000097	Focal segmental glomerulosclerosis NAMDC: Focal segmental glomerulosclerosis
8	HP:0001997	Gout
9	HP:0001402	Hepatocellular carcinoma
10	HP:0002240	Hepatomegaly
11	HP:0003077	Hyperlipidemia
12	HP:0000822	Hypertension
13	HP:0001943	Hypoglycemia
14	HP:0003128	Lactic acidosis
15	HP:0000660	Lipemia retinalis
16	HP:0000787	Nephrolithiasis
17	HP:0001875	Neutropenia
18	HP:0000155	Oral ulcer
19	HP:0000939	Osteoporosis
20	HP:0001733	Pancreatitis
21	HP:0000093	Proteinuria
22	HP:0001538	Protuberant abdomen
23	HP:0002718	Recurrent bacterial infections
24	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
25	HP:0001114	Xanthelasma
26	HP:0000991	Xanthomatosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000011.9:g.(?_118895600)_(118972385_?)dup	2542	SLC37A4	Uncertain significance	-1	RCV001031316;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895600	118972385	-1	-
NM_001164277.2(SLC37A4):c.*12G>A	2542	SLC37A4	Uncertain significance	1221264103	RCV000673533;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895608	118895608	11:g.118895608C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.*11G>A	2542	SLC37A4	Conflicting interpretations of pathogenicity	978301169	RCV000419265\|RCV000672091;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895609	118895609	11:g.118895609C>T	ClinGen:CA16606250	C0268146 232220 Glucose-6-phosphate transport defect;
NC_000011.10:g.(?_119024900)_(119029379_?)del	2542	SLC37A4	Pathogenic	-1	RCV001032533;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895610	118900089	-1	-
NM_001164277.2(SLC37A4):c.*7T>G	2542	SLC37A4	Uncertain significance	369243698	RCV000666106;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895613	118895613	11:g.118895613A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.*1AG[2]	2542	SLC37A4	Uncertain significance	782195068	RCV000668509;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895614	118895615	11:g.118895614_118895615del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.*5A>T	2542	SLC37A4	Uncertain significance	373050741	RCV000673139;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895615	118895615	11:g.118895615T>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.*5A>G	2542	SLC37A4	Uncertain significance	373050741	RCV000670495;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895615	118895615	11:g.118895615T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.*1A>G	2542	SLC37A4	Uncertain significance	782422570	RCV000668692;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895619	118895619	11:g.118895619T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)	2542	SLC37A4	Conflicting interpretations of pathogenicity	1592107594	RCV000801048;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895620	118895623	11:g.118895620_118895623del	-
NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)	2542	SLC37A4	Likely benign	-1	RCV002996531;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895621	118895621	NC_000011.9:g.118895621C>T	-
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)	2542	SLC37A4	Uncertain significance	1483724786	RCV001942933\|RCV002478373;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895623	118895623	118895623	-
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	2542	SLC37A4	Conflicting interpretations of pathogenicity	149974794	RCV000807579\|RCV002271588\|RCV002281135\|RCV002507401;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN169374\|MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C55619	11	118895624	118895624	11:g.118895624T>G	-
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)	2542	SLC37A4	Uncertain significance	1245752008	RCV000665597;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895627	118895627	11:g.118895627G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)	2542	SLC37A4	Likely benign	782137743	RCV000673939;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895629	118895629	11:g.118895629C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)	2542	SLC37A4	Uncertain significance	-1	RCV002640359;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895630	118895631	NC_000011.9:g.118895630_118895631delinsGC	-
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)	2542	SLC37A4	Benign	34871377	RCV000128144\|RCV000560550;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895632	118895632	NC_000011.9:g.118895632C>T	ClinGen:CA293587	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)	2542	SLC37A4	Uncertain significance	-1	RCV002571720;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895633	118895633	NC_000011.9:g.118895633T>C	-
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	2542	SLC37A4	Benign/Likely benign	35010541	RCV000128143\|RCV000224695\|RCV001081181\|RCV001533658;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118895635	118895635	NC_000011.9:g.118895635G>A	ClinGen:CA293584	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)	2542	SLC37A4	Uncertain significance	-1	RCV003076871;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895639	118895639	NC_000011.9:g.118895639A>T	-
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)	2542	SLC37A4	Uncertain significance	1438944888	RCV000672709;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895640	118895640	11:g.118895640C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)	2542	SLC37A4	Uncertain significance	781849575	RCV000670059;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895642	118895642	11:g.118895642C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	2542	SLC37A4	Pathogenic/Likely pathogenic	2134626266	RCV001543403\|RCV001647389\|RCV002506653;	N	MONDO:MONDO:0015286,MedGen:C0282577, Orphanet:137\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedG	11	118895643	118895643	118895643	OMIM:602671.0017
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)	2542	SLC37A4	Uncertain significance	2134626279	RCV001973473;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895645	118895645	118895645	-
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)	2542	SLC37A4	Uncertain significance	1555190347	RCV000666869;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895646	118895646	11:g.118895646C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)	2542	SLC37A4	Uncertain significance	890913792	RCV001998428;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895652	118895652	118895652	-
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)	2542	SLC37A4	Uncertain significance	782594411	RCV001240163;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895654	118895654	11:g.118895654G>A	-
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)	2542	SLC37A4	Uncertain significance	376140990	RCV000728185\|RCV001279135;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895658	118895658	NC_000011.9:g.118895658G>A	-
NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=)	2542	SLC37A4	Likely benign	2134626360	RCV001452312;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895662	118895662	118895662	-
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	2542	SLC37A4	Pathogenic/Likely pathogenic	121908979	RCV000007346\|RCV001196429\|RCV002496292;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:00092	11	118895667	118895667	11:g.118895667G>A	ClinGen:CA254006,OMIM:602671.0014	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=)	2542	SLC37A4	Likely benign	2134626404	RCV001407673;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895668	118895668	118895668	-
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)	2542	SLC37A4	Uncertain significance	1555190359	RCV000665236;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895669	118895669	11:g.118895669A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)	2542	SLC37A4	Conflicting interpretations of pathogenicity	200703321	RCV000278035\|RCV001087385\|RCV003165758;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118895670	118895670	11:g.118895670G>A	ClinGen:CA6311588	CN169374 not specified;
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)	2542	SLC37A4	Uncertain significance	-1	RCV003106341;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895678	118895679	NC_000011.9:g.118895678_118895679delinsGC	-
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)	2542	SLC37A4	Likely benign	1555190367	RCV000530853;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895680	118895680	11:g.118895680G>A	ClinGen:CA382893863	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)	2542	SLC37A4	Conflicting interpretations of pathogenicity	886047748	RCV000281567\|RCV000673349;	N	MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895685	118895685	NC_000011.9:g.118895685C>T	ClinGen:CA10637327	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	2542	SLC37A4	Benign	8192696	RCV000128142\|RCV001273999\|RCV001533659\|RCV001824627;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118895686	118895686	NC_000011.9:g.118895686C>T	ClinGen:CA293581	CN169374 not specified;
NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=)	2542	SLC37A4	Likely benign	1592107877	RCV002162638;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895689	118895689	118895689	-
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)	2542	SLC37A4	Uncertain significance	863224212	RCV000196037\|RCV001220344;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895690	118895690	NC_000011.9:g.118895690C>G	ClinGen:CA320433	CN169374 not specified;
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)	2542	SLC37A4	Uncertain significance	-1	RCV003030981;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895691	118895692	NC_000011.9:g.118895692_118895709dup	-
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)	2542	SLC37A4	Uncertain significance	-1	RCV003083171;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895694	118895694	NC_000011.9:g.118895694C>G	-
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)	2542	SLC37A4	Likely benign	1043721709	RCV001440458\|RCV002495615;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118895695	118895695	118895695	-
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)	2542	SLC37A4	Uncertain significance	782753044	RCV000685266\|RCV002499216;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895696	118895696	NC_000011.9:g.118895696G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)	2542	SLC37A4	Uncertain significance	781818280	RCV000668612;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895699	118895699	11:g.118895699C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=)	2542	SLC37A4	Likely benign	782074488	RCV001410006;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895701	118895701	118895701	-
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)	2542	SLC37A4	Uncertain significance	1555190374	RCV000667448;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895702	118895702	11:g.118895702A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=)	2542	SLC37A4	Likely benign	781909798	RCV001401348;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895704	118895704	118895704	-
NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)	2542	SLC37A4	Likely benign	-1	RCV002739996;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895704	118895704		-
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)	2542	SLC37A4	Uncertain significance	1555190378	RCV000670166;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895709	118895709	11:g.118895709C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=)	2542	SLC37A4	Likely benign	2134626678	RCV001430227;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895713	118895713	118895713	-
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)	2542	SLC37A4	Uncertain significance	1555190381	RCV000670503;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895715	118895715	11:g.118895715C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)	2542	SLC37A4	Likely benign	1555190388	RCV000665952;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895725	118895725	11:g.118895725T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)	2542	SLC37A4	Pathogenic	902775927	RCV001192958;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895731	118895731	11:g.118895731C>T	-
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)	2542	SLC37A4	Pathogenic	2134626765	RCV001390356;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895732	118895732	118895732	-
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)	2542	SLC37A4	Uncertain significance	782552989	RCV000670525;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895734	118895734	11:g.118895734A>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)	2542	SLC37A4	Uncertain significance	782552989	RCV001962157\|RCV002506916\|RCV002550382;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedG	11	118895734	118895734	118895734	-
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)	2542	SLC37A4	Uncertain significance	1035199340	RCV000666617\|RCV002485531;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118895735	118895735	11:g.118895735C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)	2542	SLC37A4	Likely benign	1555190394	RCV000672668;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895737	118895737	11:g.118895737G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)	2542	SLC37A4	Uncertain significance	-1	RCV002620078;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895740	118895740		-
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)	2542	SLC37A4	Conflicting interpretations of pathogenicity	199764888	RCV000698406\|RCV000730228\|RCV002327041;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	11	118895742	118895742	NC_000011.9:g.118895742G>A	ClinGen:CA321467	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=)	2542	SLC37A4	Likely benign	1943511012	RCV001457153;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895743	118895743	118895743	-
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)	2542	SLC37A4	Uncertain significance	1555190395	RCV000670374;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895745	118895745	11:g.118895745T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)	2542	SLC37A4	Likely benign	1464199067	RCV000673037;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895746	118895746	11:g.118895746G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)	2542	SLC37A4	Uncertain significance	782480303	RCV000806060\|RCV002352380\|RCV002477853;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364,Orp	11	118895751	118895751	11:g.118895751T>C	-
NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=)	2542	SLC37A4	Likely benign	1943511456	RCV001432425;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895752	118895752	118895752	-
NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=)	2542	SLC37A4	Likely benign	1943511456	RCV002090123;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895752	118895752	118895752	-
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg)	2542	SLC37A4	Uncertain significance	1440498520	RCV000667557;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895755	118895755	11:g.118895755G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)	2542	SLC37A4	Uncertain significance	782603818	RCV000669180;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895756	118895756	11:g.118895756C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=)	2542	SLC37A4	Likely benign	1943511879	RCV002218422;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895758	118895758	118895758	-
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu)	2542	SLC37A4	Uncertain significance	1555190399	RCV000666704;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895760	118895760	11:g.118895760A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=)	2542	SLC37A4	Likely benign	2134627010	RCV001398573;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895761	118895761	118895761	-
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472939;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895761	118895761		-
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)	2542	SLC37A4	Uncertain significance	1555190400	RCV000672666;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895762	118895762	11:g.118895762G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala)	2542	SLC37A4	Uncertain significance	1157093654	RCV000670749;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895768	118895768	11:g.118895768C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=)	2542	SLC37A4	Likely benign	962377661	RCV001403881;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895775	118895775	118895775	-
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp)	2542	SLC37A4	Uncertain significance	782665493	RCV001218512;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895780	118895780	11:g.118895780C>T	-
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)	2542	SLC37A4	Uncertain significance	782255299	RCV002507632\|RCV001984624;	N	MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895781	118895781	118895781	-
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=)	2542	SLC37A4	Likely benign	200713586	RCV000882456\|RCV003424442;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118895782	118895782	11:g.118895782G>A	-
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)	2542	SLC37A4	Uncertain significance	781962569	RCV002018626;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895783	118895783	118895783	-
NM_001164277.2(SLC37A4):c.1125-1G>A	2542	SLC37A4	Likely pathogenic	782202675	RCV000668312;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895787	118895787	11:g.118895787C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-3C>A	2542	SLC37A4	Uncertain significance	-1	RCV002922338;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895789	118895789	NC_000011.9:g.118895789G>T	-
NM_001164277.2(SLC37A4):c.1125-7_1125-6del	2542	SLC37A4	Conflicting interpretations of pathogenicity	782342989	RCV000665177;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895792	118895793	11:g.118895792_118895793del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-6T>G	2542	SLC37A4	Conflicting interpretations of pathogenicity	782323567	RCV000670746;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895792	118895792	11:g.118895792A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-6T>C	2542	SLC37A4	Conflicting interpretations of pathogenicity	782323567	RCV000672285;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895792	118895792	11:g.118895792A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-6del	2542	SLC37A4	Likely benign	1565686054	RCV001461591;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895792	118895792	118895791	-
NM_001164277.2(SLC37A4):c.1125-7dup	2542	SLC37A4	Benign	-1	RCV002597635;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895792	118895793	NC_000011.9:g.118895797dup	-
NM_001164277.2(SLC37A4):c.1125-8C>T	2542	SLC37A4	Uncertain significance	1555190404	RCV000669053;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895794	118895794	11:g.118895794G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-9C>T	2542	SLC37A4	Likely benign	1592108198	RCV001444934;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895795	118895795	11:g.118895795G>A	-
NM_001164277.2(SLC37A4):c.1125-12T>A	2542	SLC37A4	Likely benign	2134627316	RCV002145082;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895798	118895798	118895798	-
NM_001164277.2(SLC37A4):c.1125-14T>C	2542	SLC37A4	Conflicting interpretations of pathogenicity	1555190405	RCV000671653;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895800	118895800	11:g.118895800A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-15C>G	2542	SLC37A4	Uncertain significance	-1	RCV002871568;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895801	118895801	NC_000011.9:g.118895801G>C	-
NM_001164277.2(SLC37A4):c.1125-29G>A	2542	SLC37A4	Likely benign	1262126192	RCV000668259;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895815	118895815	11:g.118895815C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-41C>T	2542	SLC37A4	Likely benign	782175115	RCV000673260;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895827	118895827	11:g.118895827G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-44G>A	2542	SLC37A4	Likely benign	1256742179	RCV000670474;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895830	118895830	11:g.118895830C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1125-53G>A	2542	SLC37A4	Likely benign	1555190416	RCV000672375;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895839	118895839	11:g.118895839C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+57C>T	2542	SLC37A4	Likely benign	1555190417	RCV000672464;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895844	118895844	11:g.118895844G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+55G>A	2542	SLC37A4	Likely benign	1555190418	RCV000667192;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895846	118895846	11:g.118895846C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+51T>C	2542	SLC37A4	Likely benign	1555190420	RCV000672489;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895850	118895850	11:g.118895850A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+49C>T	2542	SLC37A4	Likely benign	782799385	RCV000673970;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895852	118895852	11:g.118895852G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+38C>G	2542	SLC37A4	Likely benign	1184172656	RCV000672663;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895863	118895863	11:g.118895863G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+38C>T	2542	SLC37A4	Likely benign	1184172656	RCV000672209;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895863	118895863	11:g.118895863G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+36C>G	2542	SLC37A4	Likely benign	547915912	RCV000666315;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895865	118895865	11:g.118895865G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+36C>A	2542	SLC37A4	Likely benign	547915912	RCV000671582;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895865	118895865	11:g.118895865G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+34C>T	2542	SLC37A4	Likely benign	1555190425	RCV000672292;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895867	118895867	11:g.118895867G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+26C>T	2542	SLC37A4	Likely benign	782811246	RCV000665140;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895875	118895875	11:g.118895875G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+25T>C	2542	SLC37A4	Likely benign	782603352	RCV000667841;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895876	118895876	11:g.118895876A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+18G>C	2542	SLC37A4	Likely benign	1555190434	RCV000667986;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895883	118895883	11:g.118895883C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+17A>G	2542	SLC37A4	Uncertain significance	-1	RCV003031129;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895884	118895884	NC_000011.9:g.118895884T>C	-
NM_001164277.2(SLC37A4):c.1124+8T>C	2542	SLC37A4	Likely benign	377506675	RCV000673105;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895893	118895893	11:g.118895893A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+7G>A	2542	SLC37A4	Likely benign	1555190438	RCV000674256;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895894	118895894	11:g.118895894C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	2542	SLC37A4	Pathogenic/Likely pathogenic	782612223	RCV001733377\|RCV002274201;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118895895	118895898	118895894	OMIM:602671.0007
NM_001164277.2(SLC37A4):c.1124+5G>A	2542	SLC37A4	Uncertain significance	2134627689	RCV002007929;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895896	118895896	118895896	-
NM_001164277.2(SLC37A4):c.1124+4A>G	2542	SLC37A4	Uncertain significance	1555190440	RCV000674789;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895897	118895897	11:g.118895897T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+2dup	2542	SLC37A4	Conflicting interpretations of pathogenicity	1459811938	RCV000781848;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895898	118895899	NC_000011.9:g.118895899dup	-
NM_001164277.2(SLC37A4):c.1124+1G>C	2542	SLC37A4	Pathogenic	782630676	RCV000707348;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895900	118895900	NC_000011.9:g.118895900C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1124+1G>T	2542	SLC37A4	Pathogenic	782630676	RCV002048277;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895900	118895900	118895900	-
NM_001164277.2(SLC37A4):c.1124+1G>A	2542	SLC37A4	Pathogenic	-1	RCV003472936;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895900	118895900		-
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)	2542	SLC37A4	Uncertain significance	-1	RCV003011384;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895903	118895903	NC_000011.9:g.118895903T>C	-
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly)	2542	SLC37A4	Uncertain significance	193302901	RCV001969292;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895906	118895906	118895906	-
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472928;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895906	118895907		-
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)	2542	SLC37A4	Uncertain significance	1565686175	RCV000696360\|RCV002477583;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895907	118895907	NC_000011.9:g.118895907C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)	2542	SLC37A4	Uncertain significance	1555190443	RCV000670147;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895909	118895909	11:g.118895909A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=)	2542	SLC37A4	Likely benign	1592108432	RCV001453878;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895911	118895911	11:g.118895911G>A	-
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr)	2542	SLC37A4	Uncertain significance	370696612	RCV001247984;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895921	118895921	11:g.118895921A>G	-
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)	2542	SLC37A4	Likely benign	1555190455	RCV000672798;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895923	118895923	11:g.118895923G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	2542	SLC37A4	Conflicting interpretations of pathogenicity	80356492	RCV000059118\|RCV000288403;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895925	118895925	11:g.118895925C>T	ClinGen:CA219278,UniProtKB/Swiss-Prot:VAR_025602	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)	2542	SLC37A4	Uncertain significance	-1	RCV002835096;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895925	118895925	NC_000011.9:g.118895925C>G	-
NM_001164277.2(SLC37A4):c.1098C>T (p.His366=)	2542	SLC37A4	Likely benign	782587864	RCV000616803\|RCV000908302;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895926	118895926	11:g.118895926G>A	ClinGen:CA6311630	CN169374 not specified;
NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=)	2542	SLC37A4	Likely benign	2134627842	RCV002158203;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895929	118895929	118895929	-
NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)	2542	SLC37A4	Likely benign	1483400314	RCV001458845;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895932	118895932	118895932	-
NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=)	2542	SLC37A4	Likely benign	2134627864	RCV001454463;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895935	118895935	118895935	-
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly)	2542	SLC37A4	Uncertain significance	958173659	RCV001870676;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895940	118895940	118895940	-
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472944;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895942	118895942		-
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser)	2542	SLC37A4	Uncertain significance	782182577	RCV000672796;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895945	118895945	11:g.118895945T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)	2542	SLC37A4	Likely benign	1555190477	RCV000665590;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895947	118895947	11:g.118895947G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)	2542	SLC37A4	Uncertain significance	1555190480	RCV000667795;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895948	118895948	11:g.118895948G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=)	2542	SLC37A4	Likely benign	1592108548	RCV000983425;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895950	118895950	11:g.118895950A>G	-
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)	2542	SLC37A4	Uncertain significance	782025581	RCV001043558\|RCV002481906;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118895951	118895951	11:g.118895951G>A	-
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)	2542	SLC37A4	Uncertain significance	-1	RCV002976289;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895952	118895952	NC_000011.9:g.118895952G>A	-
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)	2542	SLC37A4	Likely benign	1555190486	RCV000669003;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895953	118895953	11:g.118895953G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)	2542	SLC37A4	Likely benign	946752823	RCV000666249;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895956	118895956	11:g.118895956A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)	2542	SLC37A4	Conflicting interpretations of pathogenicity	547488738	RCV000180561\|RCV000559346\|RCV002408783;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118895957	118895957	11:g.118895957C>G	ClinGen:CA203733	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472941;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895959	118895959		-
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)	2542	SLC37A4	Uncertain significance	-1	RCV003089960;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895960	118895960	NC_000011.9:g.118895960T>G	-
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472924;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895960	118895961		-
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)	2542	SLC37A4	Pathogenic	121908975	RCV000007331;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895961	118895961	11:g.118895961C>A	ClinGen:CA253999,OMIM:602671.0002	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	2542	SLC37A4	Benign	61730035	RCV000128141\|RCV000588945\|RCV001083502\|RCV001274000\|RCV001533712;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009287,MedGen:C2919796,OMIM:232200, Orphanet:364, Orphanet:79258\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118895962	118895962	NC_000011.9:g.118895962G>A	ClinGen:CA293578	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser)	2542	SLC37A4	Uncertain significance	1555190504	RCV000669268;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895967	118895967	11:g.118895967C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr)	2542	SLC37A4	Uncertain significance	1342845276	RCV000665696;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895969	118895969	11:g.118895969A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)	2542	SLC37A4	Uncertain significance	1943524404	RCV001212230;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895970	118895970	11:g.118895970T>C	-
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)	2542	SLC37A4	Pathogenic	2134628172	RCV001951598;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895972	118895975	118895971	-
NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=)	2542	SLC37A4	Likely benign	368615623	RCV001444130;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895977	118895977	118895977	-
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	2542	SLC37A4	Pathogenic	80356491	RCV000007337\|RCV000007336\|RCV000601076\|RCV000624535\|RCV000723824\|RCV002279712\|RCV002476940;	N	MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0002412,MedGen:C0017919,OMIM:PS232200, Orphanet:79201\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO	11	118895981	118895982	11:g.118895981_118895982del	ClinGen:CA118560,OMIM:602671.0006	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)	2542	SLC37A4	Uncertain significance	1210588522	RCV000666344;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895981	118895981	11:g.118895981A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=)	2542	SLC37A4	Likely benign	1555190509	RCV000672683;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895982	118895982	11:g.118895982G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr)	2542	SLC37A4	Uncertain significance	1555190513	RCV000666390;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895985	118895985	11:g.118895985C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met)	2542	SLC37A4	Uncertain significance	1555190517	RCV000674653;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895986	118895986	11:g.118895986A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	1943525176	RCV001269152;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895986	118896005	11:g.118895986_118896005del	-
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)	2542	SLC37A4	Uncertain significance	-1	RCV002842808;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895986	118895986		-
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)	2542	SLC37A4	Pathogenic	-1	RCV003027110;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895988	118895996	NC_000011.9:g.118895988_118895996delinsCGAGGCA	-
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=)	2542	SLC37A4	Likely benign	1555190521	RCV000665687;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895992	118895992	11:g.118895992G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)	2542	SLC37A4	Uncertain significance	1555190525	RCV000671492;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895996	118895996	11:g.118895996T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=)	2542	SLC37A4	Likely benign	782777751	RCV000944571\|RCV002382166;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118895998	118895998	11:g.118895998C>T	-
NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)	2542	SLC37A4	Likely benign	-1	RCV002894709;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895998	118895998		-
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)	2542	SLC37A4	Uncertain significance	-1	RCV002592244;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118895999	118895999	NC_000011.9:g.118895999G>A	-
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)	2542	SLC37A4	Likely benign	1555190535	RCV000664731\|RCV002369791;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118896001	118896001	11:g.118896001G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)	2542	SLC37A4	Uncertain significance	938040106	RCV001309019;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896002	118896002	118896002	-
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)	2542	SLC37A4	Uncertain significance	1474838395	RCV000672845;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896006	118896006	11:g.118896006A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	2542	SLC37A4	Pathogenic/Likely pathogenic	121908980	RCV000007347\|RCV000059117\|RCV002482840;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118896008	118896008	11:g.118896008C>T	ClinGen:CA219275,UniProtKB/Swiss-Prot:VAR_025601,OMIM:602671.0015	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)	2542	SLC37A4	Pathogenic	80356490	RCV000007330\|RCV000059116;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118896009	118896009	11:g.118896009C>A	ClinGen:CA284849,UniProtKB/Swiss-Prot:VAR_003185,OMIM:602671.0001	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)	2542	SLC37A4	Uncertain significance	200662873	RCV000820095\|RCV002345709\|RCV003407703;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123\|	11	118896012	118896012	11:g.118896012A>G	-
NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=)	2542	SLC37A4	Likely benign	2134628485	RCV002155650;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896013	118896013	118896013	-
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=)	2542	SLC37A4	Likely benign	782726848	RCV000674706;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896016	118896016	11:g.118896016A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=)	2542	SLC37A4	Likely benign	782726848	RCV001398529;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896016	118896016	118896016	-
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)	2542	SLC37A4	Uncertain significance	1326123837	RCV000821250\|RCV001579263\|RCV002275158;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118896020	118896020	11:g.118896020C>T	-
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)	2542	SLC37A4	Uncertain significance	782443770	RCV000665629;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896027	118896027	11:g.118896027C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=)	2542	SLC37A4	Likely benign	1555190553	RCV000674667;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896031	118896031	11:g.118896031G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)	2542	SLC37A4	Uncertain significance	1555190553	RCV000665599;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896031	118896031	11:g.118896031G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)	2542	SLC37A4	Conflicting interpretations of pathogenicity	201967384	RCV000199412\|RCV001082259\|RCV002381676;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118896033	118896033	NC_000011.9:g.118896033T>C	ClinGen:CA323953	CN169374 not specified;
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)	2542	SLC37A4	Uncertain significance	782282206	RCV000666264;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896035	118896035	11:g.118896035C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-3_989del	2542	SLC37A4	Likely pathogenic	1555190559	RCV000672116;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896036	118896042	11:g.118896036_118896042del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)	2542	SLC37A4	Uncertain significance	1555190563	RCV000670487;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896039	118896039	11:g.118896039G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-1G>C	2542	SLC37A4	Pathogenic	-1	RCV003472925;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896040	118896040		-
NM_001164277.2(SLC37A4):c.986-4del	2542	SLC37A4	Uncertain significance	1555190566	RCV000671398;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896043	118896043	11:g.118896043_118896043del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-4G>A	2542	SLC37A4	Uncertain significance	-1	RCV003086988;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896043	118896043	NC_000011.9:g.118896043C>T	-
NM_001164277.2(SLC37A4):c.986-8C>T	2542	SLC37A4	Conflicting interpretations of pathogenicity	782425309	RCV000670771;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896047	118896047	11:g.118896047G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-11G>A	2542	SLC37A4	Uncertain significance	1487063543	RCV000671586;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896050	118896050	11:g.118896050C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-12T>C	2542	SLC37A4	Uncertain significance	1180556897	RCV000671430;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896051	118896051	11:g.118896051A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-13C>A	2542	SLC37A4	Likely benign	2134628756	RCV002201833;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896052	118896052	118896052	-
NM_001164277.2(SLC37A4):c.986-14T>G	2542	SLC37A4	Conflicting interpretations of pathogenicity	863224211	RCV000198933\|RCV000668559;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896053	118896053	NC_000011.9:g.118896053A>C	ClinGen:CA323471	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-15C>T	2542	SLC37A4	Uncertain significance	782640506	RCV000672812;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896054	118896054	11:g.118896054G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.986-18C>T	2542	SLC37A4	Likely benign	374784735	RCV000666480;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896057	118896057	11:g.118896057G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+295G>A	2542	SLC37A4	Likely benign	1208499204	RCV000671384;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896382	118896382	11:g.118896382C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+290T>C	2542	SLC37A4	Likely benign	781943252	RCV000668044;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896387	118896387	11:g.118896387A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+288T>G	2542	SLC37A4	Likely benign	1555190624	RCV000669431;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896389	118896389	11:g.118896389A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+286G>A	2542	SLC37A4	Likely benign	1019246810	RCV000673578;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896391	118896391	11:g.118896391C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+283A>G	2542	SLC37A4	Likely benign	1009983005	RCV000672188;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896394	118896394	11:g.118896394T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+278G>A	2542	SLC37A4	Likely benign	781909226	RCV000669710;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896399	118896399	11:g.118896399C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+276G>A	2542	SLC37A4	Likely benign	1555190629	RCV000670312;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896401	118896401	11:g.118896401C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+271A>C	2542	SLC37A4	Uncertain significance	1313690608	RCV000673899;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896406	118896406	11:g.118896406T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+270C>T	2542	SLC37A4	Conflicting interpretations of pathogenicity	782800127	RCV000439301\|RCV000664889;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896407	118896407	11:g.118896407G>A	ClinGen:CA6311659	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT	2542	SLC37A4	Likely benign	1555190633	RCV000664752;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896411	118896412	11:g.118896411_118896412insGAAAAGCCTGTGAGCTCC	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+259G>C	2542	SLC37A4	Uncertain significance	1384684015	RCV000673582;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896418	118896418	11:g.118896418C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+259G>A	2542	SLC37A4	Uncertain significance	1384684015	RCV000674602;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896418	118896418	11:g.118896418C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+252C>G	2542	SLC37A4	Likely benign	1173737788	RCV000668424;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896425	118896425	11:g.118896425G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+248G>A	2542	SLC37A4	Likely benign	369907198	RCV000666084;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896429	118896429	11:g.118896429C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+246G>A	2542	SLC37A4	Likely benign	1314659619	RCV000667431;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896431	118896431	11:g.118896431C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+245C>T	2542	SLC37A4	Likely benign	1348642148	RCV000672858;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896432	118896432	11:g.118896432G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+244T>G	2542	SLC37A4	Uncertain significance	1555190637	RCV000670883;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896433	118896433	11:g.118896433A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+241C>G	2542	SLC37A4	Uncertain significance	1555190639	RCV000669237;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896436	118896436	11:g.118896436G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+240_985+241insTA	2542	SLC37A4	Uncertain significance	782397393	RCV000670235;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896436	118896437	11:g.118896436_118896437insTA	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+238dup	2542	SLC37A4	Likely benign	1555190640	RCV000666728;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896438	118896439	11:g.118896438_118896439insT	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+234C>T	2542	SLC37A4	Likely benign	1555190642	RCV000670613;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896443	118896443	11:g.118896443G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+228C>G	2542	SLC37A4	Likely benign	201997939	RCV000664828;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896449	118896449	11:g.118896449G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+226C>T	2542	SLC37A4	Likely benign	959584744	RCV000665451;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896451	118896451	11:g.118896451G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+219T>C	2542	SLC37A4	Uncertain significance	1555190648	RCV000674167;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896458	118896458	11:g.118896458A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+217C>T	2542	SLC37A4	Likely benign	1213577149	RCV000669459;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896460	118896460	11:g.118896460G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+206C>T	2542	SLC37A4	Likely benign	1555190652	RCV000670878;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896471	118896471	11:g.118896471G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+196del	2542	SLC37A4	Likely benign	1555190657	RCV000673816;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896481	118896481	11:g.118896481_118896481del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+195C>T	2542	SLC37A4	Likely benign	1189232257	RCV000666760;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896482	118896482	11:g.118896482G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+20C>T	2542	SLC37A4	Likely benign	1453624071	RCV002171099;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896657	118896657	118896657	-
NM_001164277.2(SLC37A4):c.985+10A>G	2542	SLC37A4	Likely benign	2134631117	RCV001453599;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896667	118896667	118896667	-
NM_001164277.2(SLC37A4):c.985+9G>C	2542	SLC37A4	Uncertain significance	-1	RCV002774842;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896668	118896668	NC_000011.9:g.118896668C>G	-
NM_001164277.2(SLC37A4):c.985+3A>G	2542	SLC37A4	Uncertain significance	782121210	RCV000674461;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896674	118896674	11:g.118896674T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.985+1G>A	2542	SLC37A4	Likely pathogenic	1943553565	RCV001283783;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896676	118896676	118896676	-
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)	2542	SLC37A4	Uncertain significance	-1	RCV002636535;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896677	118896677		-
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	1001301633	RCV001992358;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896680	118896680	118896679	-
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)	2542	SLC37A4	Uncertain significance	-1	RCV003075793;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896682	118896682	NC_000011.9:g.118896682G>A	-
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)	2542	SLC37A4	Uncertain significance	1943553852	RCV001206162\|RCV002497703;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118896684	118896684	11:g.118896684G>T	-
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	2134631242	RCV001993152;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896684	118896685	118896684	-
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472932;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896686	118896692		-
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)	2542	SLC37A4	Likely benign	781824710	RCV000880923\|RCV002501382\|RCV002372505;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedG	11	118896689	118896689	11:g.118896689A>G	-
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)	2542	SLC37A4	Conflicting interpretations of pathogenicity	202209699	RCV000196846\|RCV001084427;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896693	118896693	NC_000011.9:g.118896693G>A	ClinGen:CA321255	CN169374 not specified;
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)	2542	SLC37A4	Likely pathogenic	1592109970	RCV000984945\|RCV000984946;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118896697	118896698	11:g.118896697_118896698del	-
NM_001164277.2(SLC37A4):c.945_964del (p.Met315fs)	2542	SLC37A4	Pathogenic	1943554287	RCV001293643;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896697	118896716	118896696	-
NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=)	2542	SLC37A4	Likely benign	1388219398	RCV001431739;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896698	118896698	118896698	-
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)	2542	SLC37A4	Pathogenic	-1	RCV003031249;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896698	118896699	NC_000011.9:g.118896699_118896700del	-
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile)	2542	SLC37A4	Uncertain significance	1168556886	RCV000665846;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896703	118896703	11:g.118896703C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)	2542	SLC37A4	Uncertain significance	1168556886	RCV000670580;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896703	118896703	11:g.118896703C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer)	2542	SLC37A4	Pathogenic	1943554955	RCV001237077;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896703	118896703	11:g.118896703_118896703del	-
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=)	2542	SLC37A4	Likely benign	973616226	RCV000673188;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896704	118896704	11:g.118896704C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=)	2542	SLC37A4	Likely benign	973616226	RCV000670202;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896704	118896704	11:g.118896704C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)	2542	SLC37A4	Uncertain significance	782703235	RCV000200411\|RCV001835723\|RCV002492906;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118896705	118896705	NC_000011.9:g.118896705C>T	ClinGen:CA324979	CN169374 not specified;
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro)	2542	SLC37A4	Uncertain significance	782703235	RCV002042166;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896705	118896705	118896705	-
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)	2542	SLC37A4	Uncertain significance	376730573	RCV001049603\|RCV002481952;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118896706	118896706	11:g.118896706G>A	-
NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)	2542	SLC37A4	Likely benign	-1	RCV002675721;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896713	118896713		-
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)	2542	SLC37A4	Uncertain significance	781834870	RCV001314282\|RCV002476457;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896717	118896717	118896717	-
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)	2542	SLC37A4	Uncertain significance	782475284	RCV001342324\|RCV001579266;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118896718	118896718	118896718	-
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=)	2542	SLC37A4	Likely benign	1555190722	RCV000672566;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896719	118896719	11:g.118896719G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro)	2542	SLC37A4	Uncertain significance	1365079218	RCV001874194;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896721	118896721	118896721	-
NM_001164277.2(SLC37A4):c.939G>A (p.Val313=)	2542	SLC37A4	Likely benign	782577230	RCV001441845;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896722	118896722	118896722	-
NM_001164277.2(SLC37A4):c.939G>C (p.Val313=)	2542	SLC37A4	Likely benign	782577230	RCV002095235;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896722	118896722	118896722	-
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met)	2542	SLC37A4	Uncertain significance	1555190726	RCV000671902;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896724	118896724	11:g.118896724C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)	2542	SLC37A4	Pathogenic	782172072	RCV000807219;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896724	118896725	11:g.118896724_118896725insT	-
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	-1	RCV003043819;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896725	118896726	NC_000011.9:g.118896726_118896727del	-
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	2542	SLC37A4	Conflicting interpretations of pathogenicity	786204477	RCV000169130\|RCV002273969\|RCV003407627;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|	11	118896726	118896727	11:g.118896726_118896727insTCATGCCAGCCA	ClinGen:CA273975,OMIM:602671.0009	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val)	2542	SLC37A4	Uncertain significance	957014690	RCV000673318;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896730	118896730	11:g.118896730T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)	2542	SLC37A4	Conflicting interpretations of pathogenicity	148971334	RCV000728251\|RCV001080222;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896731	118896731	NC_000011.9:g.118896731G>A	-
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)	2542	SLC37A4	Pathogenic	1943556915	RCV001247672;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896732	118896732	11:g.118896732_118896732del	-
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs)	2542	SLC37A4	Pathogenic	2134631556	RCV000007333;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896733	118896736	118896733	OMIM:602671.0004
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)	2542	SLC37A4	Pathogenic	1943557200	RCV001050145;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896734	118896734	11:g.118896734_118896734del	-
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr)	2542	SLC37A4	Uncertain significance	1335122136	RCV000674092;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896736	118896736	11:g.118896736C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)	2542	SLC37A4	Pathogenic	2134631619	RCV001390446;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896736	118896736	118896735	-
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)	2542	SLC37A4	Uncertain significance	1555190738	RCV000666817;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896738	118896738	11:g.118896738A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr)	2542	SLC37A4	Uncertain significance	1555190739	RCV000670284;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896741	118896741	11:g.118896741A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)	2542	SLC37A4	Uncertain significance	-1	RCV003062770;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896742	118896742	NC_000011.9:g.118896742T>C	-
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=)	2542	SLC37A4	Likely benign	1555190743	RCV000669211;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896748	118896748	11:g.118896748G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs)	2542	SLC37A4	Likely pathogenic	1555190745	RCV000670809;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896748	118896749	11:g.118896748_118896749insGC	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=)	2542	SLC37A4	Likely benign	1555190747	RCV000667790;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896752	118896752	11:g.118896752C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=)	2542	SLC37A4	Likely benign	1555190749	RCV000672817;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896754	118896754	11:g.118896754G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=)	2542	SLC37A4	Likely benign	374287329	RCV000665429\|RCV002442391;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118896755	118896755	11:g.118896755G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser)	2542	SLC37A4	Uncertain significance	1555190753	RCV000673495;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896757	118896757	11:g.118896757C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)	2542	SLC37A4	Likely pathogenic	193302891	RCV000059147\|RCV003474642;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896759	118896759	11:g.118896759T>G	ClinGen:CA219367,UniProtKB/Swiss-Prot:VAR_025600	CN517202 not provided;
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)	2542	SLC37A4	Uncertain significance	539911116	RCV000665412\|RCV002493083;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896760	118896760	11:g.118896760G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)	2542	SLC37A4	Uncertain significance	-1	RCV002611137;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896760	118896760	NC_000011.9:g.118896760G>A	-
NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=)	2542	SLC37A4	Likely benign	2134631794	RCV002078851;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896761	118896761	118896761	-
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	2542	SLC37A4	Pathogenic/Likely pathogenic	193302903	RCV000059146\|RCV001388583\|RCV001813754\|RCV002498349;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0023258,MedGen:C2931345\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:	11	118896762	118896762	11:g.118896762C>T	ClinGen:CA219364,UniProtKB/Swiss-Prot:VAR_025599	CN517202 not provided;
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	2542	SLC37A4	Conflicting interpretations of pathogenicity	193302880	RCV000059145\|RCV000673809;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896763	118896763	11:g.118896763G>A	ClinGen:CA219361,UniProtKB/Swiss-Prot:VAR_066397	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)	2542	SLC37A4	Uncertain significance	-1	RCV002449880\|RCV003100062;	N	MeSH:D030342,MedGen:C0950123\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896767	118896767	118896767	-
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=)	2542	SLC37A4	Likely benign	1388277495	RCV000671296;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896770	118896770	11:g.118896770C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)	2542	SLC37A4	Uncertain significance	1388277495	RCV001241820;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896770	118896770	11:g.118896770C>A	-
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)	2542	SLC37A4	Likely benign	782326705	RCV000928345\|RCV002502833;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118896773	118896773	11:g.118896773G>A	-
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)	2542	SLC37A4	Uncertain significance	1943560243	RCV001246799;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896773	118896775	NC_000011.9:g.118896773_118896775delinsTTG	-
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His)	2542	SLC37A4	Uncertain significance	763008231	RCV000665724;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896775	118896775	11:g.118896775A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp)	2542	SLC37A4	Uncertain significance	763008231	RCV000669148;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896775	118896775	11:g.118896775A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser)	2542	SLC37A4	Uncertain significance	1555190764	RCV000671531;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896777	118896777	11:g.118896777T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472938;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896778	118896779		-
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=)	2542	SLC37A4	Likely benign	1555190765	RCV000673990;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896782	118896782	11:g.118896782C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)	2542	SLC37A4	Uncertain significance	886042302	RCV000332634\|RCV001279136;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896783	118896783	11:g.118896783A>G	ClinGen:CA10604058	CN169374 not specified;
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met)	2542	SLC37A4	Uncertain significance	1555190769	RCV000672537;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896784	118896784	11:g.118896784G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg)	2542	SLC37A4	Uncertain significance	1320796917	RCV000668942;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896787	118896787	11:g.118896787C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)	2542	SLC37A4	Likely benign	974857648	RCV000928621;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896788	118896788	11:g.118896788C>T	-
NM_001164277.2(SLC37A4):c.872-7_873dup	2542	SLC37A4	Pathogenic	-1	RCV003472934;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896788	118896789		-
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val)	2542	SLC37A4	Conflicting interpretations of pathogenicity	200147602	RCV000524561\|RCV001547830\|RCV002377036;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	118896789	118896789	11:g.118896789G>A	ClinGen:CA6311694	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly)	2542	SLC37A4	Uncertain significance	200147602	RCV001244305\|RCV003117861\|RCV003166529;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	118896789	118896789	11:g.118896789G>C	-
NM_001164277.2(SLC37A4):c.872-1G>A	2542	SLC37A4	Likely pathogenic	-1	RCV003040942;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896791	118896791	NC_000011.9:g.118896791C>T	-
NM_001164277.2(SLC37A4):c.872-2A>C	2542	SLC37A4	Likely pathogenic	920196110	RCV000666410;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896792	118896792	11:g.118896792T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-4A>G	2542	SLC37A4	Likely benign	-1	RCV002895648;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896794	118896794	NC_000011.9:g.118896794T>C	-
NM_001164277.2(SLC37A4):c.872-6C>G	2542	SLC37A4	Uncertain significance	781985446	RCV000673914;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896796	118896796	11:g.118896796G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-15_872-9dup	2542	SLC37A4	Conflicting interpretations of pathogenicity	782321213	RCV000668018;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896798	118896799	11:g.118896798_118896799insACAGTCC	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-10G>A	2542	SLC37A4	Conflicting interpretations of pathogenicity	1555190776	RCV000671216;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896800	118896800	11:g.118896800C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-11T>C	2542	SLC37A4	Conflicting interpretations of pathogenicity	1265857875	RCV000673702;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896801	118896801	11:g.118896801A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-12C>T	2542	SLC37A4	Uncertain significance	200279011	RCV000674349;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896802	118896802	11:g.118896802G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-16G>A	2542	SLC37A4	Likely benign	766656496	RCV000674506;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896806	118896806	11:g.118896806C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.872-17C>T	2542	SLC37A4	Likely benign	1286218803	RCV000670839;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118896807	118896807	11:g.118896807G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+19C>T	2542	SLC37A4	Likely benign	782487764	RCV000669512;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897294	118897294	11:g.118897294G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+19C>G	2542	SLC37A4	Likely benign	-1	RCV002671808;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897294	118897294	NC_000011.9:g.118897294G>C	-
NM_001164277.2(SLC37A4):c.871+17G>T	2542	SLC37A4	Likely benign	199848791	RCV002171298;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897296	118897296	118897296	-
NM_001164277.2(SLC37A4):c.871+8G>C	2542	SLC37A4	Likely benign	2134633461	RCV001483045;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897305	118897305	118897305	-
NM_001164277.2(SLC37A4):c.871+7G>A	2542	SLC37A4	Likely benign	782177602	RCV000668432;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897306	118897306	11:g.118897306C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+7G>C	2542	SLC37A4	Likely benign	782177602	RCV001478229;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897306	118897306	118897306	-
NM_001164277.2(SLC37A4):c.871+6C>G	2542	SLC37A4	Uncertain significance	377101167	RCV000672378;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897307	118897307	11:g.118897307G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+6C>T	2542	SLC37A4	Uncertain significance	377101167	RCV000665588\|RCV003155265;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN169374	11	118897307	118897307	11:g.118897307G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+5G>A	2542	SLC37A4	Uncertain significance	1250046397	RCV000674514;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897308	118897308	11:g.118897308C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+1G>T	2542	SLC37A4	Pathogenic	1943574435	RCV000007343;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897312	118897312	NC_000011.9:g.118897312C>A	OMIM:602671.0011	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.871+1G>A	2542	SLC37A4	Likely pathogenic	-1	RCV002835308;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897312	118897312	NC_000011.9:g.118897312C>T	-
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn)	2542	SLC37A4	Uncertain significance	1555190931	RCV000671170;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897313	118897313	11:g.118897313C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=)	2542	SLC37A4	Likely benign	1555190933	RCV000670230;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897316	118897316	11:g.118897316T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val)	2542	SLC37A4	Uncertain significance	1555190938	RCV000665911;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897317	118897317	11:g.118897317G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val)	2542	SLC37A4	Uncertain significance	1555190944	RCV000668248;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897321	118897321	11:g.118897321T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=)	2542	SLC37A4	Likely benign	782246067	RCV002106629;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897322	118897322	118897322	-
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln)	2542	SLC37A4	Uncertain significance	548684318	RCV000819639\|RCV001729714;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118897326	118897326	11:g.118897326C>T	-
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=)	2542	SLC37A4	Likely benign	369860234	RCV000670764;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897334	118897334	11:g.118897334C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)	2542	SLC37A4	Likely pathogenic	1555190956	RCV000674565;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897335	118897338	11:g.118897335_118897338del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)	2542	SLC37A4	Uncertain significance	-1	RCV002657996;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897336	118897336		-
NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=)	2542	SLC37A4	Likely benign	372837897	RCV002172693;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897337	118897337	118897337	-
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)	2542	SLC37A4	Uncertain significance	555640045	RCV000319235\|RCV002518026;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897344	118897344	11:g.118897344G>A	ClinGen:CA6311720	CN169374 not specified;
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)	2542	SLC37A4	Likely pathogenic	1555190969	RCV000505570;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897345	118897345	NC_000011.9:g.118897345C>G	ClinGen:CA382900127	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=)	2542	SLC37A4	Likely benign	781864019	RCV001471228;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897349	118897349	118897349	-
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)	2542	SLC37A4	Conflicting interpretations of pathogenicity	193302900	RCV000059143\|RCV000169410;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897350	118897350	11:g.118897350A>T	ClinGen:CA219355,UniProtKB/Swiss-Prot:VAR_025598	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=)	2542	SLC37A4	Likely benign	996156142	RCV000928005;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897352	118897352	11:g.118897352G>A	-
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)	2542	SLC37A4	Uncertain significance	1350014866	RCV000673600;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897356	118897356	11:g.118897356C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly)	2542	SLC37A4	Uncertain significance	2134633732	RCV001887568;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897359	118897359	118897359	-
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile)	2542	SLC37A4	Uncertain significance	1226267943	RCV000669863;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897360	118897360	11:g.118897360C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)	2542	SLC37A4	Uncertain significance	-1	RCV003338071;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897371	118897371		-
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)	2542	SLC37A4	Likely pathogenic	1555190992	RCV000672809;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897378	118897378	11:g.118897378_118897378del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=)	2542	SLC37A4	Likely benign	1468281804	RCV001487235;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897379	118897379	118897379	-
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val)	2542	SLC37A4	Uncertain significance	1029013255	RCV000666035;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897380	118897380	11:g.118897380G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs)	2542	SLC37A4	Pathogenic	1592111172	RCV000802697;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897386	118897387	11:g.118897386_118897387del	-
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)	2542	SLC37A4	Uncertain significance	-1	RCV002606034;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897387	118897387	NC_000011.9:g.118897387T>C	-
NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=)	2542	SLC37A4	Likely benign	2134633831	RCV002112931;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897388	118897388	118897388	-
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)	2542	SLC37A4	Pathogenic	-1	RCV003472935;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897388	118897388		-
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)	2542	SLC37A4	Uncertain significance	-1	RCV002611772;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897390	118897390	NC_000011.9:g.118897390A>G	-
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)	2542	SLC37A4	Likely pathogenic	-1	RCV002287549;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897395	118897395	118897395	-
NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=)	2542	SLC37A4	Likely benign	2134633851	RCV002076410;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897397	118897397	118897397	-
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala)	2542	SLC37A4	Uncertain significance	782692832	RCV001998244;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897398	118897398	118897398	-
NM_001164277.2(SLC37A4):c.786-1G>A	2542	SLC37A4	Likely pathogenic	1943578039	RCV001230044;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897399	118897399	11:g.118897399C>T	-
NM_001164277.2(SLC37A4):c.786-2A>G	2542	SLC37A4	Likely pathogenic	2134633880	RCV001379469;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897400	118897400	118897400	-
NM_001164277.2(SLC37A4):c.786-2A>C	2542	SLC37A4	Likely pathogenic	-1	RCV002881115;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897400	118897400	NC_000011.9:g.118897400T>G	-
NM_001164277.2(SLC37A4):c.786-6C>T	2542	SLC37A4	Likely benign	2134633894	RCV002095281;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897404	118897404	118897404	-
NM_001164277.2(SLC37A4):c.786-7A>G	2542	SLC37A4	Conflicting interpretations of pathogenicity	781887799	RCV000275403\|RCV000725786\|RCV001273739;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897405	118897405	11:g.118897405T>C	ClinGen:CA6311728	CN169374 not specified;
NM_001164277.2(SLC37A4):c.786-10C>T	2542	SLC37A4	Likely benign	782502549	RCV001486272;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897408	118897408	118897408	-
NM_001164277.2(SLC37A4):c.786-18_786-16del	2542	SLC37A4	Likely benign	1555191005	RCV000669001;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897414	118897416	11:g.118897414_118897416del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.786-17A>G	2542	SLC37A4	Uncertain significance	-1	RCV002848126;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897415	118897415	NC_000011.9:g.118897415T>C	-
NM_001164277.2(SLC37A4):c.786-20A>G	2542	SLC37A4	Likely benign	1555191008	RCV000672018;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897418	118897418	11:g.118897418T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.785+19C>G	2542	SLC37A4	Likely benign	-1	RCV003045371;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897628	118897628	NC_000011.9:g.118897628G>C	-
NM_001164277.2(SLC37A4):c.785+16G>A	2542	SLC37A4	Likely benign	1283553362	RCV000667873;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897631	118897631	11:g.118897631C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.785+13T>C	2542	SLC37A4	Likely benign	1351380633	RCV000673810;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897634	118897634	11:g.118897634A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.785+12A>G	2542	SLC37A4	Likely benign	976964945	RCV000668881;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897635	118897635	11:g.118897635T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.785+8G>A	2542	SLC37A4	Likely benign	782075266	RCV000668160;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897639	118897639	11:g.118897639C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.785+6A>T	2542	SLC37A4	Conflicting interpretations of pathogenicity	369358436	RCV000444523\|RCV000634551;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897641	118897641	11:g.118897641T>A	ClinGen:CA6311741	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.785+3A>G	2542	SLC37A4	Uncertain significance	373543021	RCV000820831\|RCV003141851;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN517202	11	118897644	118897644	11:g.118897644T>C	-
NM_001164277.2(SLC37A4):c.785+2T>G	2542	SLC37A4	Likely pathogenic	1592111559	RCV000811087;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897645	118897645	11:g.118897645A>C	-
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)	2542	SLC37A4	Conflicting interpretations of pathogenicity	561701030	RCV000966318\|RCV001084431;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897650	118897650	11:g.118897650C>T	-
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu)	2542	SLC37A4	Uncertain significance	1565688245	RCV002036067;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897650	118897651	118897650	-
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=)	2542	SLC37A4	Likely benign	1555191052	RCV000667631;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897651	118897651	11:g.118897651A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg)	2542	SLC37A4	Uncertain significance	1555191054	RCV000669846;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897652	118897652	11:g.118897652A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)	2542	SLC37A4	Pathogenic	-1	RCV002829400;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897653	118897653	NC_000011.9:g.118897655del	-
NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=)	2542	SLC37A4	Likely benign	529075134	RCV001400894;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897654	118897654	118897654	-
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)	2542	SLC37A4	Uncertain significance	-1	RCV003104619;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897661	118897661	NC_000011.9:g.118897661T>C	-
NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=)	2542	SLC37A4	Likely benign	782774153	RCV001473339;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897669	118897669	118897669	-
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)	2542	SLC37A4	Uncertain significance	781834348	RCV001240612\|RCV002484317;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897670	118897670	11:g.118897670T>C	-
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys)	2542	SLC37A4	Uncertain significance	1555191060	RCV000674674;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897671	118897671	11:g.118897671C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=)	2542	SLC37A4	Likely benign	1943586351	RCV001486497;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897675	118897675	118897675	-
NM_001164277.2(SLC37A4):c.752T>C (p.Leu251Pro)	2542	SLC37A4	Uncertain significance	1565688326	RCV000761499;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897679	118897679	NC_000011.9:g.118897679A>G	-
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)	2542	SLC37A4	Pathogenic	-1	RCV003022200;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897679	118897680	NC_000011.9:g.118897681dup	-
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val)	2542	SLC37A4	Uncertain significance	2134634814	RCV002008199;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897680	118897680	118897680	-
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=)	2542	SLC37A4	Likely benign	782584884	RCV000666248;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897684	118897684	11:g.118897684G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu)	2542	SLC37A4	Uncertain significance	782584884	RCV000674619;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897684	118897684	11:g.118897684G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)	2542	SLC37A4	Uncertain significance	-1	RCV003013463;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897687	118897687	NC_000011.9:g.118897687C>A	-
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	2542	SLC37A4	Pathogenic/Likely pathogenic	781784543	RCV000169082\|RCV000300702;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118897689	118897689	NC_000011.9:g.118897689G>A	ClinGen:CA273924	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)	2542	SLC37A4	Uncertain significance	1345697523	RCV001340308;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897691	118897691	118897691	-
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)	2542	SLC37A4	Likely pathogenic	193302878	RCV000059140\|RCV003474641;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897695	118897695	11:g.118897695A>G	ClinGen:CA219346,UniProtKB/Swiss-Prot:VAR_066396	CN517202 not provided;
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)	2542	SLC37A4	Uncertain significance	1555191076	RCV000672710;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897703	118897703	11:g.118897703C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser)	2542	SLC37A4	Uncertain significance	1555191077	RCV000674738;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897706	118897706	11:g.118897706C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)	2542	SLC37A4	Uncertain significance	-1	RCV002647850;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897707	118897707	NC_000011.9:g.118897707A>C	-
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=)	2542	SLC37A4	Likely benign	782547500	RCV000666691;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897708	118897708	11:g.118897708G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)	2542	SLC37A4	Likely benign	782547500	RCV000945290\|RCV002489278;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118897708	118897708	11:g.118897708G>A	-
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala)	2542	SLC37A4	Uncertain significance	1555191079	RCV000668892;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897710	118897710	11:g.118897710T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile)	2542	SLC37A4	Uncertain significance	1555191080	RCV000668885;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897716	118897716	11:g.118897716C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)	2542	SLC37A4	Uncertain significance	1295327218	RCV001579267\|RCV001579268;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118897720	118897720	118897720	-
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)	2542	SLC37A4	Likely pathogenic	781869215	RCV000668230;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897721	118897722	11:g.118897721_118897722insAC	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	2542	SLC37A4	Likely pathogenic	121908977	RCV000007342;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897723	118897725	11:g.118897723_118897725del	ClinGen:CA254002,OMIM:602671.0010	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=)	2542	SLC37A4	Likely benign	1223570543	RCV000672337;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897723	118897723	11:g.118897723C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)	2542	SLC37A4	Uncertain significance	141105181	RCV000673387;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897728	118897728	11:g.118897728C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)	2542	SLC37A4	Uncertain significance	141105181	RCV001279137\|RCV002480908;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897728	118897728	11:g.118897728C>A	-
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe)	2542	SLC37A4	Uncertain significance	782616313	RCV000522203\|RCV001247991\|RCV002525243;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118897731	118897731	11:g.118897731G>A	ClinGen:CA6311755	CN169374 not specified;
NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=)	2542	SLC37A4	Likely benign	1197991440	RCV001410185;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897732	118897732	118897732	-
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)	2542	SLC37A4	Uncertain significance	-1	RCV002586729;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897739	118897739	NC_000011.9:g.118897739G>A	-
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=)	2542	SLC37A4	Likely benign	782333619	RCV000673474;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897741	118897741	11:g.118897741G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=)	2542	SLC37A4	Likely benign	782333619	RCV002097215;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897741	118897741	118897741	-
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)	2542	SLC37A4	Pathogenic	-1	RCV003017524;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897745	118897745	NC_000011.9:g.118897745del	-
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=)	2542	SLC37A4	Likely benign	925741468	RCV000672525;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897747	118897747	11:g.118897747C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met)	2542	SLC37A4	Uncertain significance	782167890	RCV000673703;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897749	118897749	11:g.118897749C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)	2542	SLC37A4	Likely pathogenic	2134635160	RCV001806737;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897750	118897750	118897750	-
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser)	2542	SLC37A4	Uncertain significance	1555191101	RCV000673445;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897751	118897751	11:g.118897751C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)	2542	SLC37A4	Uncertain significance	1176277831	RCV000668062\|RCV002485543;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118897752	118897752	11:g.118897752A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)	2542	SLC37A4	Likely pathogenic	1555191105	RCV000666518;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897755	118897755	11:g.118897755_118897755del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)	2542	SLC37A4	Pathogenic	996440530	RCV001043799;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897756	118897756	11:g.118897756G>T	-
NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=)	2542	SLC37A4	Likely benign	996440530	RCV001480007;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897756	118897756	118897756	-
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472940;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897759	118897760		-
NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=)	2542	SLC37A4	Likely benign	1943590147	RCV001478815;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897765	118897765	118897765	-
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)	2542	SLC37A4	Likely benign	150083315	RCV000884951\|RCV002479008;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118897768	118897768	11:g.118897768C>T	-
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg)	2542	SLC37A4	Uncertain significance	782005026	RCV001985296;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897778	118897778	118897778	-
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	2542	SLC37A4	Pathogenic/Likely pathogenic	551439289	RCV000169570;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897779	118897779	NC_000011.9:g.118897779G>A	ClinGen:CA274419	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=)	2542	SLC37A4	Likely benign	1555191117	RCV000669633;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897782	118897782	11:g.118897782G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472943;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897782	118897782		-
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del)	2542	SLC37A4	Uncertain significance	1555191121	RCV000668245;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897789	118897791	11:g.118897789_118897791del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472923;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897794	118897794		-
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del)	2542	SLC37A4	Uncertain significance	782141145	RCV000701095;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897795	118897797	NC_000011.9:g.118897796_118897798del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=)	2542	SLC37A4	Likely benign	2134635379	RCV001397992;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897798	118897798	118897798	-
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)	2542	SLC37A4	Uncertain significance	537115620	RCV000810273\|RCV002487755;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897800	118897800	11:g.118897800A>C	-
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=)	2542	SLC37A4	Likely benign	1470803048	RCV000668389;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897801	118897801	11:g.118897801G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)	2542	SLC37A4	Likely benign	201101662	RCV000901056;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897803	118897803	11:g.118897803A>G	-
NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)	2542	SLC37A4	Likely benign	-1	RCV002912594;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897804	118897804		-
NM_001164277.2(SLC37A4):c.627-3C>T	2542	SLC37A4	Uncertain significance	1349289897	RCV000672114;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897808	118897808	11:g.118897808G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.627-6C>T	2542	SLC37A4	Likely benign	782514947	RCV001486337;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897811	118897811	118897811	-
NM_001164277.2(SLC37A4):c.627-12T>C	2542	SLC37A4	Uncertain significance	1555191134	RCV000669216;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897817	118897817	11:g.118897817A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.627-16C>G	2542	SLC37A4	Likely benign	1011663035	RCV000673609;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897821	118897821	11:g.118897821G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.627-20C>T	2542	SLC37A4	Likely benign	1191557410	RCV002195582;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118897825	118897825	118897825	-
NM_001164277.2(SLC37A4):c.626+35C>G	2542	SLC37A4	Likely benign	1555191199	RCV000665197;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898303	118898303	11:g.118898303G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+30G>A	2542	SLC37A4	Likely benign	1555191200	RCV000669150;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898308	118898308	11:g.118898308C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+25C>T	2542	SLC37A4	Likely benign	533221443	RCV000668843;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898313	118898313	11:g.118898313G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+19C>T	2542	SLC37A4	Benign	741811	RCV000128140\|RCV001515580\|RCV001533713;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118898319	118898319	NC_000011.9:g.118898319G>A	ClinGen:CA293577	CN169374 not specified;
NM_001164277.2(SLC37A4):c.626+16G>C	2542	SLC37A4	Likely benign	74673344	RCV000667599;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898322	118898322	11:g.118898322C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+16G>A	2542	SLC37A4	Benign	74673344	RCV001510093;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898322	118898322	118898322	-
NM_001164277.2(SLC37A4):c.626+14C>T	2542	SLC37A4	Benign	56394886	RCV000128139\|RCV001521715\|RCV001533714;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118898324	118898324	NC_000011.9:g.118898324G>A	ClinGen:CA293576	CN169374 not specified;
NM_001164277.2(SLC37A4):c.626+13C>T	2542	SLC37A4	Likely benign	746096087	RCV000664661;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898325	118898325	11:g.118898325G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+12C>T	2542	SLC37A4	Likely benign	549251533	RCV000672825;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898326	118898326	11:g.118898326G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+11A>T	2542	SLC37A4	Likely benign	747150144	RCV000668359;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898327	118898327	11:g.118898327T>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+10C>A	2542	SLC37A4	Likely benign	757924969	RCV000669387;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898328	118898328	11:g.118898328G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+10C>T	2542	SLC37A4	Likely benign	757924969	RCV002137514;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898328	118898328	118898328	-
NM_001164277.2(SLC37A4):c.626+9C>T	2542	SLC37A4	Likely benign	1316816882	RCV000978968;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898329	118898329	11:g.118898329G>A	-
NM_001164277.2(SLC37A4):c.626+8C>T	2542	SLC37A4	Likely benign	-1	RCV003118195;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898330	118898330	NC_000011.9:g.118898330G>A	-
NM_001164277.2(SLC37A4):c.626+7C>T	2542	SLC37A4	Likely benign	1555191207	RCV000666887;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898331	118898331	11:g.118898331G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+6C>T	2542	SLC37A4	Uncertain significance	762685017	RCV000668576;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898332	118898332	11:g.118898332G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.626+5G>A	2542	SLC37A4	Uncertain significance	1943610138	RCV001309918;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898333	118898333	118898333	-
NM_001164277.2(SLC37A4):c.626+4A>C	2542	SLC37A4	Uncertain significance	770644132	RCV000670897;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898334	118898334	11:g.118898334T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)	2542	SLC37A4	Pathogenic	1272300904	RCV000007348;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898338	118898338	NC_000011.9:g.118898338C>T	OMIM:602671.0016	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)	2542	SLC37A4	Uncertain significance	1272300904	RCV000666885\|RCV002271553;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN169374	11	118898338	118898338	11:g.118898338C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys)	2542	SLC37A4	Uncertain significance	567419206	RCV000666262;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898352	118898352	11:g.118898352G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)	2542	SLC37A4	Likely benign	567419206	RCV000928474;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898352	118898352	11:g.118898352G>A	-
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr)	2542	SLC37A4	Uncertain significance	534894133	RCV000538033;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898356	118898356	NC_000011.9:g.118898356G>T	ClinGen:CA6311798	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile)	2542	SLC37A4	Uncertain significance	764654621	RCV000668272;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898357	118898357	11:g.118898357C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile)	2542	SLC37A4	Uncertain significance	764654621	RCV001244310\|RCV003166530\|RCV003426011;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	11	118898357	118898357	11:g.118898357C>T	-
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=)	2542	SLC37A4	Likely benign	368398459	RCV000982372\|RCV003424517;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118898360	118898360	11:g.118898360G>A	-
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu)	2542	SLC37A4	Uncertain significance	1565689207	RCV000696358;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898363	118898363	11:g.118898363G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=)	2542	SLC37A4	Likely benign	750870724	RCV002110168;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898366	118898366	118898366	-
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg)	2542	SLC37A4	Uncertain significance	2134637316	RCV001993648;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898367	118898367	118898367	-
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	1474282972	RCV000668254;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898368	118898368	11:g.118898368_118898368del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=)	2542	SLC37A4	Likely benign	1565689217	RCV002187209;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898368	118898368	118898368	-
NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=)	2542	SLC37A4	Likely benign	758536145	RCV001476956;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898369	118898369	118898369	-
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)	2542	SLC37A4	Benign/Likely benign	34203644	RCV000128138\|RCV000586546\|RCV001083465;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898370	118898370	NC_000011.9:g.118898370T>A	ClinGen:CA293573	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)	2542	SLC37A4	Uncertain significance	-1	RCV003069970;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898370	118898370	NC_000011.9:g.118898370T>C	-
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)	2542	SLC37A4	Pathogenic	-1	RCV002967550;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898370	118898370	NC_000011.9:g.118898371del	-
NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=)	2542	SLC37A4	Likely benign	1476372585	RCV002109187;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898372	118898372	118898372	-
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)	2542	SLC37A4	Uncertain significance	377180238	RCV000824605\|RCV002487862;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525	11	118898373	118898373	11:g.118898373C>T	-
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)	2542	SLC37A4	Uncertain significance	-1	RCV002900408;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898374	118898374	NC_000011.9:g.118898374G>A	-
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=)	2542	SLC37A4	Likely benign	1555191222	RCV000672640;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898375	118898375	11:g.118898375G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe)	2542	SLC37A4	Uncertain significance	1041686986	RCV000672649;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898383	118898383	11:g.118898383C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly)	2542	SLC37A4	Uncertain significance	777627677	RCV000667432;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898385	118898385	11:g.118898385T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)	2542	SLC37A4	Uncertain significance	-1	RCV003068567;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898386	118898386	NC_000011.9:g.118898386C>T	-
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)	2542	SLC37A4	Pathogenic	-1	RCV003472931;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898386	118898387		-
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=)	2542	SLC37A4	Likely benign	1555191231	RCV000672024;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898387	118898387	11:g.118898387A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	2542	SLC37A4	Pathogenic/Likely pathogenic	193302888	RCV000059136\|RCV000169286;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898391	118898391	11:g.118898391G>A	ClinGen:CA219334,UniProtKB/Swiss-Prot:VAR_032113	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp)	2542	SLC37A4	Uncertain significance	1555191237	RCV000674442;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898393	118898393	11:g.118898393T>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)	2542	SLC37A4	Likely benign	368678559	RCV001480476\|RCV002501657;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898396	118898396	118898396	-
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=)	2542	SLC37A4	Likely benign	1555191248	RCV000666167;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898402	118898402	11:g.118898402G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)	2542	SLC37A4	Uncertain significance	1452797070	RCV000673556;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898403	118898403	11:g.118898403A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)	2542	SLC37A4	Likely benign	745721191	RCV000666326;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898405	118898405	11:g.118898405G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His)	2542	SLC37A4	Uncertain significance	1943614259	RCV001905370;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898406	118898406	118898406	-
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)	2542	SLC37A4	Uncertain significance	538938823	RCV000730440\|RCV001579264\|RCV001579265\|RCV002485875\|RCV002343595;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220,O	11	118898407	118898407	NC_000011.9:g.118898407G>A	-
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=)	2542	SLC37A4	Likely benign	891986567	RCV000668114;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898408	118898408	11:g.118898408C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=)	2542	SLC37A4	Likely benign	1300746467	RCV000674308;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898411	118898411	11:g.118898411G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe)	2542	SLC37A4	Uncertain significance	1555191258	RCV000674436;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898413	118898413	11:g.118898413G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)	2542	SLC37A4	Pathogenic	193302893	RCV000059135\|RCV001824595;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898416	118898416	11:g.118898416A>G	ClinGen:CA219331,UniProtKB/Swiss-Prot:VAR_025595	CN517202 not provided;
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)	2542	SLC37A4	Uncertain significance	775311483	RCV001068407\|RCV002497473;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898419	118898419	11:g.118898419G>A	-
NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=)	2542	SLC37A4	Likely benign	760217061	RCV001448032;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898420	118898420	118898420	-
NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=)	2542	SLC37A4	Likely benign	371716153	RCV000431200\|RCV000901042\|RCV002348217;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118898423	118898423	11:g.118898423G>A	ClinGen:CA6311816	CN169374 not specified;
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys)	2542	SLC37A4	Uncertain significance	374991345	RCV000806039;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898424	118898424	11:g.118898424G>C	-
NM_001164277.2(SLC37A4):c.537C>T (p.Val179=)	2542	SLC37A4	Likely benign	1780828602	RCV001469849;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898426	118898426	118898426	-
NM_001164277.1(SLC37A4):c.529_533del	2542	SLC37A4	Pathogenic	2089891548	RCV001226341;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898430	118898434		-
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)	2542	SLC37A4	Pathogenic	2134637643	RCV001939454;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898432	118898435	118898431	-
NM_001164277.2(SLC37A4):c.527= (p.Cys176=)	2542	SLC37A4	Benign	56966114	RCV000986138\|RCV001516166;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898436	118898436	11:g.118898436_118898436del	-
NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=)	2542	SLC37A4	Likely benign	1010838306	RCV002094854;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898439	118898439	118898439	-
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=)	2542	SLC37A4	Likely benign	369409989	RCV000672366;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898442	118898442	11:g.118898442T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)	2542	SLC37A4	Uncertain significance	1432294427	RCV000674798;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898444	118898444	11:g.118898444C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)	2542	SLC37A4	Uncertain significance	750732128	RCV000705438\|RCV001107825\|RCV002485763\|RCV002534437;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232	11	118898449	118898449	11:g.118898449G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=)	2542	SLC37A4	Likely benign	1943617167	RCV001923814;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898451	118898451	118898451	-
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr)	2542	SLC37A4	Uncertain significance	1397362093	RCV000672284;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898456	118898456	11:g.118898456C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=)	2542	SLC37A4	Likely benign	1326476812	RCV001440054;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898457	118898457	118898457	-
NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)	2542	SLC37A4	Likely benign	-1	RCV003010317;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898457	118898457		-
NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=)	2542	SLC37A4	Likely benign	751791093	RCV001423889;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898460	118898460	118898460	-
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup)	2542	SLC37A4	Uncertain significance	2134637839	RCV001976568;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898461	118898462	118898461	-
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)	2542	SLC37A4	Uncertain significance	754982680	RCV001892460\|RCV002490113\|RCV002334800;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525\|MeSH:D030342,MedG	11	118898461	118898461	118898461	-
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	2542	SLC37A4	Conflicting interpretations of pathogenicity	186476316	RCV000199219\|RCV001027800\|RCV001084902\|RCV003224223;	N	MedGen:C3661900\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240,O	11	118898467	118898467	NC_000011.9:g.118898467C>T	ClinGen:CA323754	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)	2542	SLC37A4	Uncertain significance	11552539	RCV001027801\|RCV002505552\|RCV002552012;	N	MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:792	11	118898468	118898468	11:g.118898468G>A	-
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)	2542	SLC37A4	Pathogenic	1233639372	RCV001068592;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898469	118898469	11:g.118898469C>T	-
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)	2542	SLC37A4	Pathogenic	1943618079	RCV001390723;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898470	118898470	118898470	-
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)	2542	SLC37A4	Conflicting interpretations of pathogenicity	369399624	RCV000392366\|RCV000936549\|RCV001280604\|RCV003224255;	N	MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259;	11	118898472	118898472	NC_000011.9:g.118898472G>A	ClinGen:CA6311827	C0017920 Glycogen storage disease, type I;
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)	2542	SLC37A4	Uncertain significance	369399624	RCV000593826\|RCV000705165\|RCV002350420;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118898472	118898472	11:g.118898472G>T	ClinGen:CA6311826	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=)	2542	SLC37A4	Likely benign	745606440	RCV001501881;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898475	118898475	11:g.118898475G>A	-
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)	2542	SLC37A4	Pathogenic	-1	RCV003472921;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898479	118898480		-
NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=)	2542	SLC37A4	Likely benign	2134637952	RCV001471369;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898481	118898481	118898481	-
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)	2542	SLC37A4	Uncertain significance	1438731101	RCV000664598;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898485	118898485	11:g.118898485G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)	2542	SLC37A4	Uncertain significance	-1	RCV002726715;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898491	118898491	NC_000011.9:g.118898491A>G	-
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=)	2542	SLC37A4	Likely benign	775227522	RCV000672476;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898493	118898493	11:g.118898493G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)	2542	SLC37A4	Likely benign	1395094300	RCV000667608;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898496	118898496	11:g.118898496T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	2542	SLC37A4	Conflicting interpretations of pathogenicity	201036248	RCV000658627\|RCV001086520\|RCV001102581\|RCV002054342\|RCV003330569;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|	11	118898497	118898497	NC_000011.9:g.118898497G>A	ClinGen:CA321772	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)	2542	SLC37A4	Conflicting interpretations of pathogenicity	776272750	RCV000278475\|RCV001410122;	N	MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898499	118898499	NC_000011.9:g.118898499C>G	ClinGen:CA6311832	C0017920 Glycogen storage disease, type I;
NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=)	2542	SLC37A4	Likely benign	1395373487	RCV002175030;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898501	118898501	118898501	-
NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=)	2542	SLC37A4	Likely benign	1309434778	RCV002179520;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898502	118898502	118898502	-
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)	2542	SLC37A4	Pathogenic	769726248	RCV000820470;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898504	118898504	11:g.118898504_118898504del	-
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=)	2542	SLC37A4	Likely benign	1555191349	RCV000666409;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898505	118898505	11:g.118898505A>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	2542	SLC37A4	Pathogenic/Likely pathogenic	193302890	RCV000059133\|RCV001854232;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898506	118898506	11:g.118898506G>A	ClinGen:CA219325,UniProtKB/Swiss-Prot:VAR_025593	CN517202 not provided;
NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=)	2542	SLC37A4	Likely benign	1943620012	RCV002167753;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898508	118898508	118898508	-
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)	2542	SLC37A4	Uncertain significance	1555191353	RCV000667054\|RCV003278980;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118898512	118898512	11:g.118898512A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	2542	SLC37A4	Pathogenic/Likely pathogenic	193302883	RCV000059132\|RCV000794844\|RCV002483116;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898516	118898516	11:g.118898516C>T	ClinGen:CA219322,UniProtKB/Swiss-Prot:VAR_025592	CN517202 not provided;
NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=)	2542	SLC37A4	Likely benign	2134638161	RCV001490844;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898517	118898517	118898517	-
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)	2542	SLC37A4	Pathogenic	193302892	RCV000059131\|RCV001204831;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898518	118898518	11:g.118898518C>T	ClinGen:CA219319,UniProtKB/Swiss-Prot:VAR_003184	CN517202 not provided;
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)	2542	SLC37A4	Pathogenic	193302879	RCV000059130\|RCV001390447;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898521	118898521	11:g.118898521G>A	ClinGen:CA219316,UniProtKB/Swiss-Prot:VAR_066395	CN517202 not provided;
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)	2542	SLC37A4	Uncertain significance	863224210	RCV000200213\|RCV002492905\|RCV001833153;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898531	118898531	NC_000011.9:g.118898531T>C	ClinGen:CA324773	CN169374 not specified;
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly)	2542	SLC37A4	Uncertain significance	1555191372	RCV000665746;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898534	118898534	11:g.118898534T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=)	2542	SLC37A4	Likely benign	1250941400	RCV002103042;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898535	118898535	118898535	-
NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=)	2542	SLC37A4	Likely benign	766732034	RCV001498914;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898541	118898541	118898541	-
NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=)	2542	SLC37A4	Likely benign	766732034	RCV002111132;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898541	118898541	118898541	-
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln)	2542	SLC37A4	Uncertain significance	1555191378	RCV000673776;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898542	118898542	11:g.118898542A>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met)	2542	SLC37A4	Uncertain significance	2134638252	RCV001886618;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898544	118898544	118898544	-
NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=)	2542	SLC37A4	Likely benign	2134638267	RCV002217554;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898547	118898547	118898547	-
NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=)	2542	SLC37A4	Likely benign	377452076	RCV001483098;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898559	118898559	118898559	-
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu)	2542	SLC37A4	Uncertain significance	1555191386	RCV000667820;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898562	118898562	11:g.118898562A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His)	2542	SLC37A4	Uncertain significance	767772187	RCV001317891;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898565	118898565	118898565	-
NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=)	2542	SLC37A4	Likely benign	767772187	RCV001474814;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898565	118898565	118898565	-
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)	2542	SLC37A4	Pathogenic	2134638421	RCV002000174;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898565	118898566	118898565	-
NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=)	2542	SLC37A4	Likely benign	752687782	RCV001437369;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898574	118898574	118898574	-
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala)	2542	SLC37A4	Uncertain significance	1465764979	RCV000673626;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898575	118898575	11:g.118898575T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)	2542	SLC37A4	Uncertain significance	1555191401	RCV000667475;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898576	118898576	11:g.118898576C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly)	2542	SLC37A4	Uncertain significance	1555191405	RCV000667922;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898582	118898582	11:g.118898582A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg)	2542	SLC37A4	Uncertain significance	1555191405	RCV000666350;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898582	118898582	11:g.118898582A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-1del	2542	SLC37A4	Likely pathogenic	1555191406	RCV000669975;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898583	118898583	11:g.118898583_118898583del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-1G>T	2542	SLC37A4	Likely pathogenic	-1	RCV003472937;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898583	118898583		-
NM_001164277.2(SLC37A4):c.382-3C>G	2542	SLC37A4	Uncertain significance	1555191407	RCV000674203;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898585	118898585	11:g.118898585G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-4A>C	2542	SLC37A4	Conflicting interpretations of pathogenicity	923058912	RCV000673333;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898586	118898586	11:g.118898586T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-5C>T	2542	SLC37A4	Likely benign	-1	RCV002710816;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898587	118898587	NC_000011.9:g.118898587G>A	-
NM_001164277.2(SLC37A4):c.382-6C>T	2542	SLC37A4	Uncertain significance	756248657	RCV000673917;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898588	118898588	11:g.118898588G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-7C>T	2542	SLC37A4	Likely benign	2134638535	RCV002200303;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898589	118898589	118898589	-
NM_001164277.2(SLC37A4):c.382-8C>T	2542	SLC37A4	Likely benign	2134638543	RCV001987658;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898590	118898590	118898590	-
NM_001164277.2(SLC37A4):c.382-9G>C	2542	SLC37A4	Likely benign	985534169	RCV002157972;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898591	118898591	118898591	-
NM_001164277.2(SLC37A4):c.382-10T>C	2542	SLC37A4	Conflicting interpretations of pathogenicity	914753772	RCV000670599;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898592	118898592	11:g.118898592A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-15C>T	2542	SLC37A4	Uncertain significance	1555191417	RCV000666055;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898597	118898597	11:g.118898597G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-16G>A	2542	SLC37A4	Conflicting interpretations of pathogenicity	778665353	RCV000664970;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898598	118898598	11:g.118898598C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-17C>T	2542	SLC37A4	Likely benign	1369693461	RCV000667818;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898599	118898599	11:g.118898599G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.382-19G>T	2542	SLC37A4	Likely benign	1380601197	RCV000674035;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898601	118898601	11:g.118898601C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NC_000011.10:g.(?_119028174)_(119029389_?)del	2542	SLC37A4	Pathogenic	-1	RCV000824664;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898884	118900099		-
NM_001164277.2(SLC37A4):c.381+15A>G	2542	SLC37A4	Likely benign	1057520372	RCV000430257\|RCV000667186;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898889	118898889	11:g.118898889T>C	ClinGen:CA16605861	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.381+8C>T	2542	SLC37A4	Likely benign	782284449	RCV000668704;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898896	118898896	11:g.118898896G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.381+5G>A	2542	SLC37A4	Uncertain significance	-1	RCV002588502;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898899	118898899	NC_000011.9:g.118898899C>T	-
NM_001164277.2(SLC37A4):c.381+4A>G	2542	SLC37A4	Uncertain significance	1555191499	RCV000673372;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898900	118898900	11:g.118898900T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.381+2T>G	2542	SLC37A4	Pathogenic/Likely pathogenic	782645078	RCV000781850\|RCV001268012;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118898902	118898902	NC_000011.9:g.118898902A>C	-
NM_001164277.2(SLC37A4):c.381+1G>A	2542	SLC37A4	Likely pathogenic	786204637	RCV000169418;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898903	118898903	NC_000011.9:g.118898903C>T	ClinGen:CA274287	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.381+1G>T	2542	SLC37A4	Pathogenic	786204637	RCV000812333;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898903	118898903	11:g.118898903C>A	-
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)	2542	SLC37A4	Uncertain significance	1315203966	RCV001954625;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898904	118898904	118898904	-
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)	2542	SLC37A4	Uncertain significance	78735156	RCV000498803\|RCV001102583\|RCV001240285\|RCV002524068;	N	MedGen:CN517202\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118898908	118898908	11:g.118898908C>T	ClinGen:CA6311855	CN169374 not specified;
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)	2542	SLC37A4	Uncertain significance	946341075	RCV002491832\|RCV001246410;	N	MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898909	118898909	11:g.118898909G>A	-
NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)	2542	SLC37A4	Likely benign	-1	RCV002932762;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898910	118898910		-
NM_001164277.2(SLC37A4):c.372C>T (p.Val124=)	2542	SLC37A4	Likely benign	137940481	RCV002071407;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898913	118898913	118898913	-
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp)	2542	SLC37A4	Uncertain significance	1555191510	RCV000670007;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898914	118898914	11:g.118898914A>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)	2542	SLC37A4	Likely pathogenic	1555191512	RCV000665324;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898915	118898915	11:g.118898915_118898915del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=)	2542	SLC37A4	Likely benign	1218213940	RCV001506923;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898916	118898916	118898916	-
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)	2542	SLC37A4	Uncertain significance	-1	RCV002602157;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898916	118898916	NC_000011.9:g.118898916C>A	-
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr)	2542	SLC37A4	Uncertain significance	1555191517	RCV000664914;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898917	118898917	11:g.118898917T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=)	2542	SLC37A4	Likely benign	1555191518	RCV000670914;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898919	118898919	11:g.118898919C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)	2542	SLC37A4	Likely pathogenic	-1	RCV003472926;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898920	118898920		-
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg)	2542	SLC37A4	Uncertain significance	1254956942	RCV000817250;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898921	118898921	11:g.118898921C>T	-
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=)	2542	SLC37A4	Likely benign	1555191522	RCV000664829;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898925	118898925	11:g.118898925T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)	2542	SLC37A4	Pathogenic	1182102272	RCV000781849\|RCV002501021;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898925	118898926	NC_000011.9:g.118898930dup	-
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472942;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898925	118898926		-
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser)	2542	SLC37A4	Uncertain significance	1045954164	RCV001065305;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898927	118898927	11:g.118898927G>A	-
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=)	2542	SLC37A4	Likely benign	782358834	RCV000667842;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898928	118898928	11:g.118898928G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)	2542	SLC37A4	Uncertain significance	-1	RCV002454985\|RCV003099586;	N	MeSH:D030342,MedGen:C0950123\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898929	118898929	118898929	-
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser)	2542	SLC37A4	Uncertain significance	1158229491	RCV001046193;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898930	118898930	11:g.118898930G>A	-
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)	2542	SLC37A4	Pathogenic	80356489	RCV000007332\|RCV000059128;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118898933	118898933	11:g.118898933A>G	ClinGen:CA219309,UniProtKB/Swiss-Prot:VAR_007850,OMIM:602671.0003	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=)	2542	SLC37A4	Likely benign	1311198538	RCV000666002;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898934	118898934	11:g.118898934G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)	2542	SLC37A4	Uncertain significance	-1	RCV003021097;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898936	118898936	NC_000011.9:g.118898936C>T	-
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=)	2542	SLC37A4	Likely benign	1555191533	RCV000674137;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898937	118898937	11:g.118898937C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)	2542	SLC37A4	Pathogenic	782604758	RCV000634550;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898939	118898940	11:g.118898939_118898940insC	ClinGen:CA6311859	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	782604758	RCV000665873\|RCV002252203;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|	11	118898939	118898940	11:g.118898939_118898940insCC	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=)	2542	SLC37A4	Likely benign	191768893	RCV002088817;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898939	118898939	118898939	-
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=)	2542	SLC37A4	Likely benign	782188658	RCV000664527;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898940	118898940	11:g.118898940C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=)	2542	SLC37A4	Likely benign	782188658	RCV001477758;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898940	118898940	118898940	-
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)	2542	SLC37A4	Likely pathogenic	-1	RCV003444046;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898941	118898941		-
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)	2542	SLC37A4	Conflicting interpretations of pathogenicity	-1	RCV003230955\|RCV003475550;	N	MedGen:CN169374\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898942	118898942		-
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)	2542	SLC37A4	Pathogenic	782313064	RCV001876688;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898945	118898945	118898945	-
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)	2542	SLC37A4	Conflicting interpretations of pathogenicity	1376674013	RCV001102584\|RCV001441012;	N	MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898946	118898946	11:g.118898946G>A	-
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)	2542	SLC37A4	Uncertain significance	-1	RCV003090270;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898948	118898948	NC_000011.9:g.118898948C>T	-
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)	2542	SLC37A4	Pathogenic	2134639714	RCV001960556;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898949	118898950	118898949	-
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)	2542	SLC37A4	Uncertain significance	1356550790	RCV000665513;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898953	118898953	11:g.118898953C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)	2542	SLC37A4	Uncertain significance	1210339491	RCV001361336;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898962	118898962	118898962	-
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)	2542	SLC37A4	Pathogenic	-1	RCV003472927;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898965	118898965		-
NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=)	2542	SLC37A4	Likely benign	11552540	RCV001403015;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898967	118898967	118898967	-
NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=)	2542	SLC37A4	Likely benign	2134639818	RCV001504366;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898973	118898973	118898973	-
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr)	2542	SLC37A4	Uncertain significance	781808875	RCV002009642;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898975	118898975	118898975	-
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)	2542	SLC37A4	Uncertain significance	1171686379	RCV000666013;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898976	118898976	11:g.118898976A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=)	2542	SLC37A4	Likely benign	782803340	RCV001493651;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898982	118898982	118898982	-
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu)	2542	SLC37A4	Uncertain significance	1555191550	RCV000672821;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898983	118898983	11:g.118898983G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)	2542	SLC37A4	Uncertain significance	-1	RCV003056147;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898984	118898984	NC_000011.9:g.118898984G>C	-
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=)	2542	SLC37A4	Uncertain significance	1273132953	RCV001035406;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898988	118898988	11:g.118898988T>C	-
NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=)	2542	SLC37A4	Likely benign	542959160	RCV001462168;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898991	118898991	118898991	-
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=)	2542	SLC37A4	Likely benign	561054469	RCV000664519;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898994	118898994	11:g.118898994G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.291C>G (p.Ser97Arg)	2542	SLC37A4	Uncertain significance	561054469	RCV001279138;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118898994	118898994	11:g.118898994G>C	-
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	2542	SLC37A4	Conflicting interpretations of pathogenicity	121908976	RCV000007339\|RCV000169480\|RCV000779044;	N	MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364	11	118898998	118898998	11:g.118898998C>T	ClinGen:CA118561,OMIM:602671.0008	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=)	2542	SLC37A4	Likely benign	2134639947	RCV002092584;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899000	118899000	118899000	-
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu)	2542	SLC37A4	Uncertain significance	1555191568	RCV000666263;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899003	118899003	11:g.118899003A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=)	2542	SLC37A4	Likely benign	1555191568	RCV000664541;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899003	118899003	11:g.118899003A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr)	2542	SLC37A4	Uncertain significance	782563826	RCV000669458;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899007	118899007	11:g.118899007A>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)	2542	SLC37A4	Likely pathogenic	1555191573	RCV000674005;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899008	118899009	11:g.118899008_118899009insT	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)	2542	SLC37A4	Uncertain significance	1280285676	RCV001102585\|RCV001873498;	N	MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899011	118899011	11:g.118899011T>C	-
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs)	2542	SLC37A4	Likely pathogenic	1555191580	RCV000672097;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899015	118899016	11:g.118899015_118899016insACCAGGAGCCA	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile)	2542	SLC37A4	Uncertain significance	1555191582	RCV000670101;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899017	118899017	11:g.118899017C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=)	2542	SLC37A4	Likely benign	2134640047	RCV002209499;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899018	118899018	118899018	-
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)	2542	SLC37A4	Uncertain significance	782292086	RCV001319846\|RCV002486269;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899021	118899021	118899021	-
NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=)	2542	SLC37A4	Likely benign	782292086	RCV001405291;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899021	118899021	118899021	-
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val)	2542	SLC37A4	Uncertain significance	193302886	RCV000674689;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899022	118899022	11:g.118899022C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=)	2542	SLC37A4	Likely benign	1555191590	RCV000666712;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899027	118899027	11:g.118899027C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=)	2542	SLC37A4	Likely benign	1555191590	RCV002164719;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899027	118899027	118899027	-
NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=)	2542	SLC37A4	Likely benign	2134640137	RCV002220003;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899030	118899030	118899030	-
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)	2542	SLC37A4	Uncertain significance	-1	RCV002867363;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899033	118899033		-
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)	2542	SLC37A4	Likely pathogenic	2134640168	RCV001378593;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899037	118899037	118899037	-
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)	2542	SLC37A4	Uncertain significance	181879065	RCV000810477\|RCV001553060\|RCV003166293\|RCV002487759;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220,	11	118899043	118899043	11:g.118899043G>A	-
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu)	2542	SLC37A4	Uncertain significance	1191615872	RCV000666579;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899045	118899045	11:g.118899045G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)	2542	SLC37A4	Uncertain significance	-1	RCV002623117;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899045	118899045		-
NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=)	2542	SLC37A4	Likely benign	546808955	RCV001418103;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899048	118899048	118899048	-
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)	2542	SLC37A4	Likely pathogenic	781857990	RCV001174813;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899051	118899051	11:g.118899051C>T	-
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)	2542	SLC37A4	Uncertain significance	-1	RCV002791783;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899053	118899053	NC_000011.9:g.118899053A>G	-
NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=)	2542	SLC37A4	Likely benign	1478378942	RCV002155265;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899054	118899054	118899054	-
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)	2542	SLC37A4	Uncertain significance	370839177	RCV001245657\|RCV002499419;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899055	118899055	11:g.118899055C>T	-
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)	2542	SLC37A4	Uncertain significance	370839177	RCV001372944\|RCV002488180;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118899055	118899055	118899055	-
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser)	2542	SLC37A4	Uncertain significance	1417623185	RCV001907655;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899056	118899056	118899056	-
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)	2542	SLC37A4	Uncertain significance	-1	RCV003072261;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899056	118899056	NC_000011.9:g.118899056G>A	-
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)	2542	SLC37A4	Uncertain significance	782429783	RCV000664910;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899058	118899058	11:g.118899058G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro)	2542	SLC37A4	Uncertain significance	948802122	RCV001923852;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899059	118899059	118899059	-
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr)	2542	SLC37A4	Uncertain significance	1555191603	RCV000671059;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899061	118899061	11:g.118899061C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)	2542	SLC37A4	Uncertain significance	1555191604	RCV000667328;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899068	118899068	11:g.118899068G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys)	2542	SLC37A4	Uncertain significance	1555191604	RCV000674237;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899068	118899068	11:g.118899068G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)	2542	SLC37A4	Pathogenic	1555191604	RCV001174784;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899068	118899068	11:g.118899068G>A	-
NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=)	2542	SLC37A4	Likely benign	2134640432	RCV001490772;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899075	118899075	118899075	-
NM_001164277.2(SLC37A4):c.207G>A (p.Val69=)	2542	SLC37A4	Likely benign	1295497535	RCV001405714;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899078	118899078	118899078	-
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)	2542	SLC37A4	Uncertain significance	375754042	RCV000634549\|RCV001555579\|RCV002420701\|RCV002483792;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,	11	118899080	118899080	NC_000011.9:g.118899080C>A	ClinGen:CA6311886	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)	2542	SLC37A4	Pathogenic/Likely pathogenic	193302885	RCV000059125\|RCV001854231;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899083	118899083	11:g.118899083C>T	ClinGen:CA219300,UniProtKB/Swiss-Prot:VAR_025588	CN517202 not provided;
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)	2542	SLC37A4	Uncertain significance	193302885	RCV000672612;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899083	118899083	11:g.118899083C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=)	2542	SLC37A4	Likely benign	372405501	RCV001495917;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899084	118899084	118899084	-
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)	2542	SLC37A4	Likely pathogenic	-1	RCV003472929;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899089	118899090		-
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg)	2542	SLC37A4	Uncertain significance	1359256648	RCV001948644;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899096	118899096	118899096	-
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=)	2542	SLC37A4	Likely benign	1452761654	RCV001421313;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899099	118899099	118899099	-
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)	2542	SLC37A4	Uncertain significance	1555191621	RCV000673130;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899100	118899100	11:g.118899100A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)	2542	SLC37A4	Uncertain significance	1555191625	RCV000666657;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899101	118899101	11:g.118899101T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)	2542	SLC37A4	Benign	34123220	RCV000128137\|RCV000406317\|RCV000549381;	N	MedGen:CN169374\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899102	118899102	NC_000011.9:g.118899102A>G	ClinGen:CA293570	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His)	2542	SLC37A4	Uncertain significance	1555191626	RCV000674473;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899107	118899107	11:g.118899107A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)	2542	SLC37A4	Pathogenic	782501672	RCV000806503;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899110	118899116	11:g.118899110_118899116del	-
NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=)	2542	SLC37A4	Likely benign	371347098	RCV001467546;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899111	118899111	11:g.118899111T>C	ClinGen:CA6311888	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)	2542	SLC37A4	Uncertain significance	782083266	RCV000672497\|RCV002493111;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899112	118899112	11:g.118899112G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=)	2542	SLC37A4	Likely benign	782713974	RCV000941622;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899114	118899114	11:g.118899114C>T	-
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)	2542	SLC37A4	Pathogenic	374848317	RCV000810201;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899115	118899115	11:g.118899115G>T	-
NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=)	2542	SLC37A4	Likely benign	782548085	RCV002141008;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899120	118899120	118899120	-
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly)	2542	SLC37A4	Uncertain significance	1555191637	RCV000673739;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899125	118899125	11:g.118899125T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=)	2542	SLC37A4	Likely benign	2134640708	RCV002163743;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899126	118899126	118899126	-
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile)	2542	SLC37A4	Uncertain significance	953252068	RCV000667639;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899127	118899127	11:g.118899127G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.152TCA[1] (p.Ile52del)	2542	SLC37A4	Uncertain significance	1943642881	RCV001293641;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899128	118899130	118899127	-
NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)	2542	SLC37A4	Uncertain significance	-1	RCV003040340;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899129	118899129		-
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)	2542	SLC37A4	Uncertain significance	1565690903	RCV000690503;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899131	118899131	11:g.118899131T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=)	2542	SLC37A4	Likely benign	1352116986	RCV001392532;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899132	118899132	118899132	-
NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=)	2542	SLC37A4	Likely benign	202137454	RCV000926116\|RCV001704735;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN517202	11	118899135	118899135	11:g.118899135C>A	ClinGen:CA6311894	CN169374 not specified;
NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=)	2542	SLC37A4	Likely benign	202137454	RCV002123293;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899135	118899135	118899135	-
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)	2542	SLC37A4	Uncertain significance	193302877	RCV000059122\|RCV001362661\|RCV002504975;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118899136	118899136	11:g.118899136C>T	ClinGen:CA219291,UniProtKB/Swiss-Prot:VAR_066394	CN517202 not provided;
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)	2542	SLC37A4	Uncertain significance	193302877	RCV001316908;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899136	118899136	118899136	-
NM_001164277.2(SLC37A4):c.149-3C>T	2542	SLC37A4	Uncertain significance	782625122	RCV000672748\|RCV002485558;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899139	118899139	11:g.118899139G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-6C>G	2542	SLC37A4	Uncertain significance	1407509189	RCV000672879;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899142	118899142	11:g.118899142G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-6del	2542	SLC37A4	Likely benign	2134640825	RCV002172462;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899142	118899142	118899141	-
NM_001164277.2(SLC37A4):c.149-7C>T	2542	SLC37A4	Conflicting interpretations of pathogenicity	1316874319	RCV000673115;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899143	118899143	11:g.118899143G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-9T>C	2542	SLC37A4	Uncertain significance	-1	RCV002967326;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899145	118899145	NC_000011.9:g.118899145A>G	-
NM_001164277.2(SLC37A4):c.149-11G>A	2542	SLC37A4	Uncertain significance	1555191644	RCV000666748;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899147	118899147	11:g.118899147C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-14A>G	2542	SLC37A4	Benign/Likely benign	79849261	RCV000128136\|RCV000303008\|RCV001533715\|RCV001523428\|RCV002505099;	N	MedGen:CN169374\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet	11	118899150	118899150	NC_000011.9:g.118899150T>C	ClinGen:CA293569	C0017920 Glycogen storage disease, type I;
NM_001164277.2(SLC37A4):c.149-16G>A	2542	SLC37A4	Likely benign	373027415	RCV000665268;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899152	118899152	11:g.118899152C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-20A>G	2542	SLC37A4	Likely benign	1555191648	RCV000673843;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899156	118899156	11:g.118899156T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-21T>G	2542	SLC37A4	Likely benign	1555191649	RCV000670167;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899157	118899157	11:g.118899157A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-22C>T	2542	SLC37A4	Likely benign	369353938	RCV000665241;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899158	118899158	11:g.118899158G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-23C>T	2542	SLC37A4	Likely benign	1283313486	RCV000669709;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899159	118899159	11:g.118899159G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.149-35del	2542	SLC37A4	Likely benign	1555191655	RCV000671964;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899171	118899171	11:g.118899171_118899171del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.148+20G>A	2542	SLC37A4	Conflicting interpretations of pathogenicity	782050642	RCV000667494\|RCV002485538;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899912	118899912	11:g.118899912C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.148+16G>A	2542	SLC37A4	Likely benign	2134643318	RCV002082062;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899916	118899916	118899916	-
NC_000011.9:g.(?_118899922)_(118900089_?)del	2542	SLC37A4	Pathogenic	-1	RCV001380363;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899922	118900089	-1	-
NM_001164277.2(SLC37A4):c.148+6C>T	2542	SLC37A4	Uncertain significance	1565691594	RCV000822719;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899926	118899926	11:g.118899926G>A	-
NM_001164277.2(SLC37A4):c.148+4A>G	2542	SLC37A4	Uncertain significance	1943672237	RCV001244693;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899928	118899928	11:g.118899928T>C	-
NM_001164277.2(SLC37A4):c.148+2T>C	2542	SLC37A4	Pathogenic/Likely pathogenic	1449998297	RCV000664487;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899930	118899930	11:g.118899930A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.148+2T>A	2542	SLC37A4	Likely pathogenic	-1	RCV002282846;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899930	118899930	118899930	-
NM_001164277.2(SLC37A4):c.148+1G>A	2542	SLC37A4	Pathogenic/Likely pathogenic	1943672400	RCV000007344\|RCV002223174\|RCV002496291;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:00092	11	118899931	118899931	NC_000011.9:g.118899931C>T	OMIM:602671.0005,OMIM:602671.0012	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.148+1G>T	2542	SLC37A4	Pathogenic	1943672400	RCV001260430;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899931	118899931	11:g.118899931C>A	-
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)	2542	SLC37A4	Likely pathogenic	-1	RCV003472945;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899932	118899932		-
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val)	2542	SLC37A4	Uncertain significance	1277675258	RCV001218778;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899935	118899935	11:g.118899935A>C	-
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=)	2542	SLC37A4	Likely benign	1310970870	RCV000670453;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899936	118899936	11:g.118899936A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu)	2542	SLC37A4	Uncertain significance	373540523	RCV000817625\|RCV003279104;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118899939	118899939	11:g.118899939A>C	-
NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=)	2542	SLC37A4	Likely benign	373540523	RCV001428596;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899939	118899939	118899939	-
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly)	2542	SLC37A4	Uncertain significance	1555191832	RCV000671840;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899940	118899940	11:g.118899940T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.139G>C (p.Asp47His)	2542	SLC37A4	Uncertain significance	1943672924	RCV001293642;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899941	118899941	118899941	-
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=)	2542	SLC37A4	Likely benign	1555191835	RCV000665860;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899942	118899942	11:g.118899942C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)	2542	SLC37A4	Uncertain significance	-1	RCV002756930\|RCV003308275;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118899943	118899943	NC_000011.9:g.118899943T>C	-
NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=)	2542	SLC37A4	Likely benign	1943673151	RCV001463632;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899945	118899945	118899945	-
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)	2542	SLC37A4	Uncertain significance	781846380	RCV000670668\|RCV002386149;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118899953	118899953	11:g.118899953G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)	2542	SLC37A4	Uncertain significance	781846380	RCV001240365\|RCV002379916\|RCV002484315\|RCV003414042;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,	11	118899953	118899953	11:g.118899953G>A	-
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)	2542	SLC37A4	Uncertain significance	782470624	RCV000673126;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899958	118899958	11:g.118899958T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)	2542	SLC37A4	Likely benign	-1	RCV003021681;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899963	118899963		-
NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=)	2542	SLC37A4	Likely benign	376965474	RCV001437864;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899968	118899968	118899968	-
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)	2542	SLC37A4	Pathogenic	1444468055	RCV000578424;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899970	118899970	11:g.118899970G>T	ClinGen:CA382908291	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=)	2542	SLC37A4	Likely benign	1555191843	RCV000669359;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899972	118899972	11:g.118899972T>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu)	2542	SLC37A4	Uncertain significance	781797026	RCV001943758;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899973	118899973	118899973	-
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val)	2542	SLC37A4	Uncertain significance	782533083	RCV000665598;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899977	118899977	11:g.118899977T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.102C>A (p.Val34=)	2542	SLC37A4	Likely benign	1277712643	RCV002199787;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899978	118899978	118899978	-
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)	2542	SLC37A4	Uncertain significance	782644732	RCV001239609\|RCV002480787\|RCV002563947;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedG	11	118899980	118899980	11:g.118899980C>T	-
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu)	2542	SLC37A4	Uncertain significance	1555191848	RCV000665062;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899981	118899981	11:g.118899981A>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=)	2542	SLC37A4	Likely benign	782234184	RCV000669522;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899984	118899984	11:g.118899984G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)	2542	SLC37A4	Conflicting interpretations of pathogenicity	1432360280	RCV001250169;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899986	118899988	11:g.118899986_118899988del	-
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu)	2542	SLC37A4	Uncertain significance	955402383	RCV000671757;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899987	118899987	11:g.118899987G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr)	2542	SLC37A4	Uncertain significance	1555191854	RCV000670930;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899988	118899988	11:g.118899988A>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn)	2542	SLC37A4	Uncertain significance	987244110	RCV000667326;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899991	118899991	11:g.118899991G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)	2542	SLC37A4	Uncertain significance	-1	RCV003087309;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899991	118899991	NC_000011.9:g.118899991G>A	-
NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=)	2542	SLC37A4	Likely benign	1171604521	RCV001501622;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899993	118899993	118899993	-
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)	2542	SLC37A4	Uncertain significance	-1	RCV003045273;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899993	118899993	NC_000011.9:g.118899993C>A	-
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)	2542	SLC37A4	Uncertain significance	1943675245	RCV001338876;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899995	118899995	118899995	-
NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=)	2542	SLC37A4	Likely benign	568517935	RCV000915845;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899996	118899996	11:g.118899996G>C	-
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	2542	SLC37A4	Pathogenic/Likely pathogenic	121908978	RCV000007345\|RCV000059144\|RCV002482839;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259	11	118899997	118899997	11:g.118899997C>T	ClinGen:CA219358,UniProtKB/Swiss-Prot:VAR_016840,OMIM:602671.0013	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	2542	SLC37A4	Pathogenic	193302882	RCV000059142\|RCV000634548\|RCV002477207;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899998	118899998	11:g.118899998G>A	ClinGen:CA219352,UniProtKB/Swiss-Prot:VAR_025584	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	2542	SLC37A4	Conflicting interpretations of pathogenicity	193302889	RCV000059141\|RCV000357831\|RCV000414827\|RCV000675174;	N	MedGen:CN517202\|MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|6 conditions\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118899999	118899999	11:g.118899999A>T	ClinGen:CA219349,UniProtKB/Swiss-Prot:VAR_025583	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)	2542	SLC37A4	Uncertain significance	782308530	RCV000548549\|RCV003139758;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:CN517202	11	118900000	118900000	11:g.118900000T>C	ClinGen:CA6311917	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=)	2542	SLC37A4	Likely benign	1943675742	RCV002172612;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900002	118900002	118900002	-
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	1447366650	RCV000673099\|RCV002499185;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900003	118900006	11:g.118900003_118900006del	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)	2542	SLC37A4	Uncertain significance	1468641405	RCV000704424;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900004	118900004	NC_000011.9:g.118900004A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)	2542	SLC37A4	Pathogenic	2134644045	RCV001905428;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900005	118900006	118900005	-
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)	2542	SLC37A4	Uncertain significance	569831771	RCV000665965;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900009	118900009	11:g.118900009T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)	2542	SLC37A4	Likely pathogenic	193302887	RCV000059139\|RCV000169003;	N	MedGen:CN517202\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900010	118900010	11:g.118900010A>G	ClinGen:CA219343,UniProtKB/Swiss-Prot:VAR_025582	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=)	2542	SLC37A4	Likely benign	1256797588	RCV002201448;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900011	118900011	118900011	-
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)	2542	SLC37A4	Uncertain significance	781982938	RCV001363770;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900012	118900012	118900012	-
NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=)	2542	SLC37A4	Likely benign	2134644140	RCV002080730;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900014	118900014	118900014	-
NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=)	2542	SLC37A4	Likely benign	1257759060	RCV001493742;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900017	118900017	118900017	-
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)	2542	SLC37A4	Uncertain significance	1943676569	RCV001059753;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900019	118900019	11:g.118900019A>G	-
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	2542	SLC37A4	Pathogenic/Likely pathogenic	1943676862	RCV001036141\|RCV002292600;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118900020	118900021	11:g.118900020_118900021insC	-
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	2542	SLC37A4	Pathogenic/Likely pathogenic	193302881	RCV000059137\|RCV000699431\|RCV002504976;	N	MedGen:C3661900\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900021	118900021	11:g.118900021C>T	ClinGen:CA219337,UniProtKB/Swiss-Prot:VAR_025581	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)	2542	SLC37A4	Uncertain significance	193302881	RCV000666917;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900021	118900021	11:g.118900021C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)	2542	SLC37A4	Uncertain significance	2134644210	RCV001983623;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900022	118900022	118900022	-
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr)	2542	SLC37A4	Uncertain significance	1555191879	RCV000673933;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900034	118900034	11:g.118900034C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=)	2542	SLC37A4	Likely benign	1555191880	RCV000672820;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900035	118900035	11:g.118900035T>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)	2542	SLC37A4	Conflicting interpretations of pathogenicity	1555191880	RCV001104510\|RCV001426217;	N	MONDO:MONDO:0002413,MedGen:C0017920, Orphanet:364\|MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900035	118900035	11:g.118900035T>C	-
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)	2542	SLC37A4	Uncertain significance	1555191883	RCV000673263;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900036	118900036	11:g.118900036G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro)	2542	SLC37A4	Uncertain significance	1399227780	RCV002045690;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900049	118900049	118900049	-
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)	2542	SLC37A4	Uncertain significance	782500443	RCV001245875\|RCV002436966\|RCV002480837;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364,Orp	11	118900051	118900051	11:g.118900051C>T	-
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)	2542	SLC37A4	Uncertain significance	546577012	RCV001318309;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900052	118900052	118900052	-
NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=)	2542	SLC37A4	Likely benign	2134644380	RCV002118371;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900053	118900053	118900053	-
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3])	2542	SLC37A4	Uncertain significance	782663171	RCV000670624;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900055	118900056	11:g.118900055_118900056insATAGCC	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)	2542	SLC37A4	Uncertain significance	782446107	RCV001244202\|RCV003393913;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|	11	118900057	118900057	11:g.118900057T>C	-
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His)	2542	SLC37A4	Uncertain significance	782578166	RCV000666485;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900058	118900058	11:g.118900058A>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)	2542	SLC37A4	Likely benign	370153031	RCV000707421\|RCV002424728;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedGen:C0950123	11	118900059	118900059	NC_000011.9:g.118900059G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)	2542	SLC37A4	Likely benign	1555191904	RCV000667329;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900065	118900065	11:g.118900065G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=)	2542	SLC37A4	Likely benign	1555191904	RCV001465585;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900065	118900065	118900065	-
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp)	2542	SLC37A4	Uncertain significance	2134644442	RCV001966773;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900066	118900066	118900066	-
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)	2542	SLC37A4	Uncertain significance	571267951	RCV001246069\|RCV002480838\|RCV003263897;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MeSH:D030342,MedG	11	118900067	118900067	11:g.118900067C>T	-
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)	2542	SLC37A4	Uncertain significance	571267951	RCV001348806\|RCV002486432\|RCV003405582;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0009288,MedGen:C0342749,OMIM:232240, Orphanet:364, Orphanet:79259; MONDO:MONDO:0030437,MedGen:C5561986,OMIM:619525; MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|	11	118900067	118900067	118900067	-
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)	2542	SLC37A4	Pathogenic	2134644472	RCV001929223;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900069	118900069	118900068	-
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro)	2542	SLC37A4	Uncertain significance	1555191906	RCV000667771;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900073	118900073	11:g.118900073C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)	2542	SLC37A4	Uncertain significance	1555191907	RCV000667188;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900076	118900076	11:g.118900076C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)	2542	SLC37A4	Pathogenic/Likely pathogenic	786204740	RCV000169589;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900079	118900079	NC_000011.9:g.118900079T>C	ClinGen:CA274441	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-2C>T	2542	SLC37A4	Uncertain significance	1318999121	RCV000667652;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900081	118900081	11:g.118900081G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-10C>G	2542	SLC37A4	Uncertain significance	782655025	RCV000674082;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900089	118900089	11:g.118900089G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-13G>T	2542	SLC37A4	Uncertain significance	1555191914	RCV000671596;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900092	118900092	11:g.118900092C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-15C>T	2542	SLC37A4	Uncertain significance	1210959942	RCV000664911;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900094	118900094	11:g.118900094G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-16C>G	2542	SLC37A4	Uncertain significance	1555191915	RCV000664472;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900095	118900095	11:g.118900095G>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-16C>A	2542	SLC37A4	Uncertain significance	1555191915	RCV000668433;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118900095	118900095	11:g.118900095G>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-195-64C>T	2542	SLC37A4	Benign	56258965	RCV000960474\|RCV001595058;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MedGen:C3661900	11	118900338	118900338	11:g.118900338G>A	-
NM_001164277.2(SLC37A4):c.-498G>T	2542	SLC37A4	Uncertain significance	1555192177	RCV000669051;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901244	118901244	11:g.118901244C>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-499C>T	2542	SLC37A4	Uncertain significance	1236559416	RCV000672463;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901245	118901245	11:g.118901245G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-504G>C	2542	SLC37A4	Uncertain significance	1045560610	RCV000674855;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901250	118901250	11:g.118901250C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-504G>A	2542	SLC37A4	Uncertain significance	1045560610	RCV000665456;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901250	118901250	11:g.118901250C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-506A>G	2542	SLC37A4	Uncertain significance	1555192180	RCV000673107;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901252	118901252	11:g.118901252T>C	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-522G>A	2542	SLC37A4	Uncertain significance	1375919926	RCV000666640;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901268	118901268	11:g.118901268C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-527C>T	2542	SLC37A4	Uncertain significance	1290401578	RCV000668663;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901273	118901273	11:g.118901273G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-528C>T	2542	SLC37A4	Uncertain significance	1555192184	RCV000666809;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901274	118901274	11:g.118901274G>A	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-530G>A	2542	SLC37A4	Uncertain significance	1417861590	RCV000666293;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901276	118901276	11:g.118901276C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-535G>C	2542	SLC37A4	Uncertain significance	138523194	RCV000665323;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901281	118901281	11:g.118901281C>G	-	C0268146 232220 Glucose-6-phosphate transport defect;
NM_001164277.2(SLC37A4):c.-535G>A	2542	SLC37A4	Uncertain significance	138523194	RCV000666486;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259	11	118901281	118901281	11:g.118901281C>T	-	C0268146 232220 Glucose-6-phosphate transport defect;
NC_000011.9:g.(?_117856768)_(118972385_?)dup	-1	subset of 33 genes: ARCN1:HMBS:KMT2A	Uncertain significance	-1	RCV001031254\|RCV001304384\|RCV001313154\|RCV001322413\|RCV001338286;	N	MedGen:C0268146,OMIM:232220, Orphanet:364, Orphanet:79259\|MONDO:MONDO:0013153,MedGen:C2751053,OMIM:613148, Orphanet:238569\|MONDO:MONDO:0014276,MedGen:C3810107,OMIM:615607, Orphanet:169082\|MONDO:MONDO:0014280,MedGen:C3810147,OMIM:615617\|MONDO:MONDO:0014278,M	11	117856768	118972385	-1	-

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