MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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: Bulbar Palsy, Progressive (D010244)
Parent Node: Hearing Loss, Sensorineural (D006319)
..Starting node ..Brown-Vialetto-Van Laere syndrome (C537111)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Albinism ocular late onset sensorineural deafness (C537043)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Ataxia, Deafness, and Cardiomyopathy (C565932)
..Athabaskan brainstem dysgenesis (C535397)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Auditory Neuropathy, Nonsyndromic Recessive (C563398)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..BADS Syndrome (C562663)
..Barakat syndrome (C537907)
..Bartter Syndrome, Type 4A (C566530)
..Bartter Syndrome, Type 4b (C567762)
..Bjornstad syndrome (C537633) L: 00084;
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brown-Vialetto-Van Laere syndrome (C537111)
..CAPOS syndrome (C535351)
..Cardiomyopathy, Dilated, 1J (C565337)
..Cataract ataxia deafness (C538283)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Neurosensory Deafness (C565869)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Chitty Hall Baraitser syndrome (C535928)
..Chudley-Mccullough syndrome (C535459)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Coloboma, cleft lip-palate and mental retardation syndrome (C535971)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..Corneal dystrophy and perceptive deafness (C535473)
..Cowchock syndrome (C536450)
..Craniofacial deafness hand syndrome (C536453)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness oligodontia syndrome (C538049)
..Deafness, Aminoglycoside-Induced (C564013) L: 00051;
..Deafness, Autosomal Dominant 1 (C565121)
..Deafness, Autosomal Dominant 10 (C563354)
..Deafness, Autosomal Dominant 11 (C563353)
..Deafness, Autosomal Dominant 12 (C563295)
..Deafness, Autosomal Dominant 13 (C566612)
..Deafness, Autosomal Dominant 15 (C566545)
..Deafness, Autosomal Dominant 16 (C565832)
..Deafness, Autosomal Dominant 18 (C565267)
..Deafness, Autosomal Dominant 20 (C565754)
..Deafness, Autosomal Dominant 21 (C564634)
..Deafness, Autosomal Dominant 23 (C565357)
..Deafness, Autosomal Dominant 24 (C565239)
..Deafness, Autosomal Dominant 25 (C565319)
..Deafness, Autosomal Dominant 28 (C563890)
..Deafness, Autosomal Dominant 2A (C567441)
..Deafness, Autosomal Dominant 2B (C567214)
..Deafness, Autosomal Dominant 30 (C564706)
..Deafness, Autosomal Dominant 31 (C563888)
..Deafness, Autosomal Dominant 36 (C564675)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Deafness, Autosomal Dominant 3A (C567277)
..Deafness, Autosomal Dominant 3B (C567215)
..Deafness, Autosomal Dominant 4 (C563460)
..Deafness, Autosomal Dominant 41 (C564272)
..Deafness, Autosomal Dominant 43 (C564246)
..Deafness, Autosomal Dominant 44 (C564399)
..Deafness, Autosomal Dominant 47 (C563885)
..Deafness, Autosomal Dominant 48 (C564322)
..Deafness, Autosomal Dominant 49 (C564250)
..Deafness, Autosomal Dominant 5 (C563410)
..Deafness, Autosomal Dominant 52 (C564348)
..Deafness, Autosomal Dominant 53 (C566495)
..Deafness, Autosomal Dominant 59 (C567216)
..Deafness, Autosomal Dominant 6 (C563421)
..Deafness, Autosomal Dominant 7 (C563321)
..Deafness, Autosomal Dominant 9 (C563335)
..Deafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..Deafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..Deafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..Deafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..Deafness, Autosomal Recessive (C564609)
..Deafness, Autosomal Recessive 10 (C565341) 1
..Deafness, Autosomal Recessive 12 (C563327)
..Deafness, Autosomal Recessive 13 (C566410)
..Deafness, Autosomal Recessive 14 (C566344)
..Deafness, Autosomal Recessive 15 (C566611)
..Deafness, Autosomal Recessive 16 (C566339)
..Deafness, Autosomal Recessive 17 (C566418)
..Deafness, Autosomal Recessive 18 (C566580) 1
..Deafness, Autosomal Recessive 1A (C567134) L: 00489;
..Deafness, Autosomal Recessive 1b (C567213)
..Deafness, Autosomal Recessive 2 (C564007)
..Deafness, Autosomal Recessive 20 (C565828)
..Deafness, Autosomal Recessive 21 (C566353)
..Deafness, Autosomal Recessive 22 (C564633)
..Deafness, Autosomal Recessive 23 (C563705)
..Deafness, Autosomal Recessive 26 (C565329)
..Deafness, Autosomal Recessive 27 (C565287)
..Deafness, Autosomal Recessive 28 (C565218)
..Deafness, Autosomal Recessive 3 (C563961)
..Deafness, Autosomal Recessive 30 (C564624)
..Deafness, Autosomal Recessive 31 (C564629)
..Deafness, Autosomal Recessive 32 (C563884)
..Deafness, Autosomal Recessive 33 (C564602)
..Deafness, Autosomal Recessive 35 (C563908)
..Deafness, Autosomal Recessive 36 (C563815)
..Deafness, Autosomal Recessive 37 (C564331)
..Deafness, Autosomal Recessive 38 (C564273)
..Deafness, Autosomal Recessive 39 (C564265)
..Deafness, Autosomal Recessive 4 (C566366)
..Deafness, Autosomal Recessive 40 (C564266)
..Deafness, Autosomal Recessive 42 (C566460)
..Deafness, Autosomal Recessive 44 (C565716)
..Deafness, Autosomal Recessive 46 (C566459)
..Deafness, Autosomal Recessive 47 (C566498)
..Deafness, Autosomal Recessive 48 (C563720)
..Deafness, Autosomal Recessive 49 (C565717)
..Deafness, Autosomal Recessive 5 (C563444)
..Deafness, Autosomal Recessive 53 (C566453)
..Deafness, Autosomal Recessive 59 (C565698)
..Deafness, Autosomal Recessive 6 (C563418)
..Deafness, Autosomal Recessive 62 (C565719)
..Deafness, Autosomal Recessive 63 (C566951)
..Deafness, Autosomal Recessive 65 (C565211)
..Deafness, Autosomal Recessive 66 (C565701)
..Deafness, Autosomal Recessive 67 (C565207)
..Deafness, Autosomal Recessive 68 (C563669)
..Deafness, Autosomal Recessive 7 (C563417)
..Deafness, Autosomal Recessive 71 (C567562)
..Deafness, Autosomal Recessive 77 (C567543)
..Deafness, Autosomal Recessive 79 (C567651)
..Deafness, Autosomal Recessive 9 (C563396)
..Deafness, Autosomal Recessive, 24 (C567027)
..Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) 1
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Deafness, Congenital, with Total Albinism (C565646)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, Mid-Tone Neural (C565122)
..Deafness, Progressive High-Tone Neural (C562423)
..Deafness, Sensorineural, And Male Infertility (C567010)
..Deafness, Sensorineural, Autosomal-Mitochondrial Type (C565637) L: 00159;
..Deafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Digitorenocerebral Syndrome (C563052)
..Donnai-Barrow syndrome (C536390)
..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..Ermine phenotype (C535508)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Flynn Aird syndrome (C537066)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Gemignani syndrome (C537678)
..Gonadal dysgenesis XX type deafness (C537286) 1
..Griscelli syndrome type 1 (C537301)
..Hearing Loss, Central (D006313) 16 C:1
..Hearing Loss, Noise-Induced (D006317)
..HID Syndrome (C566528)
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Hittner Hirsch Kreh syndrome (C538323)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Insulin-Like Growth Factor I Deficiency (C563867)
..Johanson Blizzard syndrome (C535880)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Macrothrombocytopenia progressive deafness (C537831)
..Marshall syndrome (C536025)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MYH9-Related Disorders (C535507)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephropathy, Progressive, with Deafness (C563713)
..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..Nonsyndromic sensorineural hearing loss (C537845)
..Optic atrophy 1 and deafness (C537124) L: 00657;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Otodental Dysplasia (C563482)
..Otofacioosseous-Gonadal Syndrome (C566597)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..Palmoplantar Keratoderma with Deafness (C536152)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pendred syndrome (C536648)
..Pfeiffer Kapferer syndrome (C537887)
..Presbycusis (D011304) 2
..Progressive hearing loss stapes fixation (C536424)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Robinson Miller Bensimon syndrome (C535864)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Schaap Taylor Baraitser syndrome (C536626)
..Sensorineural Deafness With Mild Renal Dysfunction (C567544)
..Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..SeSAME syndrome (C557674)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Split-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Stickler syndrome, type 1 (C537492)
..STICKLER SYNDROME, TYPE IV (OMIM:614134)
..STICKLER SYNDROME, TYPE V (OMIM:614284)
..Thiamine responsive megaloblastic anemia syndrome (C536510)
..Townes-Brocks syndrome (C536974)
..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..Treft Sanborn Carey syndrome (C536544)
..Tunglang Savage Bellman syndrome (C536927)
..Usher Syndromes (D052245) 19 L: 00160;
..Vohwinkel syndrome (C536457)
..Winkelman Bethge Pfeiffer syndrome (C536710)
..Wolfram Syndrome 2 (C565733) L: 00490;
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1627

Name:

Brown-Vialetto-Van Laere syndrome

Definition:

Alternative IDs:

DO:DOID:0050694|OMIM:211530|OMIM:614707

ParentIDs:

MESH:D006319|MESH:D010244

TreeNumbers:

C09.218.458.341.887/C537111 |C10.574.562.300/C537111 |C10.597.751.418.341.887/C537111 |C10.668.467.300/C537111 |C23.888.592.763.393.341.887/C537111

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C537111
MeSH: C537111
OMIM: 211530;
MSeqDR :
Genes: SLC52A2; SLC52A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0011448	Ankle clonus
4	HP:0001251	Ataxia	HP:0040283
5	HP:0001283	Bulbar palsy
6	HP:0002312	Clumsiness
7	HP:0007097	Cranial nerve motor loss
8	HP:0009113	Diaphragmatic weakness
9	HP:0002015	Dysphagia NAMDC: Dysphagia
10	HP:0000544	External ophthalmoplegia
11	HP:0010628	Facial palsy
12	HP:0009130	Hand muscle atrophy
13	HP:0011449	Knee clonus
14	HP:0002808	Kyphosis
15	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
16	HP:0002058	Myopathic facies
17	HP:0000467	Neck muscle weakness
18	HP:0002877	Nocturnal hypoventilation
19	HP:0009830	Peripheral neuropathy
20	HP:0003676	Progressive
21	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
22	HP:0000508	Ptosis NAMDC: Ptosis
23	HP:0002205	Recurrent respiratory infections
24	HP:0002098	Respiratory distress
25	HP:0002093	Respiratory insufficiency
26	HP:0002650	Scoliosis
27	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
28	HP:0010307	Stridor
29	HP:0012473	Tongue atrophy
30	HP:0001308	Tongue fasciculations
31	HP:0001605	Vocal cord paralysis
32	HP:0001621	Weak voice

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000020.10:g.(?_389402)_(746418_?)del	-1	CSNK2A1;SCRT2;SLC52A3;RBCK1;TCF15;TBC1D20;SRXN1	Pathogenic	-1	RCV001877503\|RCV001900457;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	389402	746418	-1	-
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter)	79581	SLC52A2	Pathogenic	rs375088539	RCV000167765\|RCV000235507\|RCV002272152;	N	MONDO:MONDO:0013867,MedGen:C3553538,OMIM:614707, Orphanet:572550, Orphanet:97229\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	8	145583960	145583960	NC_000008.10:g.145583960C>T	ClinGen:CA198667	C3553538 614707 Brown-Vialetto-Van Laere syndrome 2;
NM_001363118.2(SLC52A2):c.1289A>G (p.Tyr430Cys)	79581	SLC52A2	Uncertain significance	rs781873022	RCV000661948\|RCV000661950;	N	MONDO:MONDO:0013867,MedGen:C3553538,OMIM:614707, Orphanet:572550, Orphanet:97229\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	8	145584626	145584626	NC_000008.10:g.145584626A>G	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
Single allele	113278	SLC52A3	Uncertain significance	rs544939272	RCV000551008;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	739832	739832	20:g.739832G>A	ClinGen:CA310672074	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000020.11:g.(?_761006)_(765794_?)del	113278	SLC52A3	Pathogenic	-1	RCV000793484;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741650	746438		-
NC_000020.10:g.(?_741650)_(746438_?)dup	113278	SLC52A3	Uncertain significance	-1	RCV000807915;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741650	746438		-
NC_000020.10:g.(?_741670)_(746418_?)dup	113278	SLC52A3	Uncertain significance	-1	RCV001990079;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741670	746418	-1	-
NC_000020.10:g.(?_741670)_(742488_?)dup	113278	SLC52A3	Uncertain significance	-1	RCV003122968;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741670	742488		-
NM_033409.4(SLC52A3):c.1407C>G (p.Ala469=)	113278	SLC52A3	Likely benign	-1	RCV001879565;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741673	741673	741673	-
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup)	113278	SLC52A3	Uncertain significance	rs1599955591	RCV000806639;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741676	741677	20:g.741676_741677insGGACAGTGCAGATTGCAGAAGGCA	-
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr)	113278	SLC52A3	Uncertain significance	rs140360713	RCV000546514\|RCV000762335\|RCV002384253;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	741699	741699	20:g.741699C>A	ClinGen:CA9724506	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=)	113278	SLC52A3	Likely benign	rs758484328	RCV000529622\|RCV002384252;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	741706	741706	20:g.741706C>A	ClinGen:CA9724508	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1374G>A (p.Ser458_Ser459=)	113278	SLC52A3	Likely benign	-1	RCV002938425;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741706	741706	NC_000020.10:g.741706C>T	-
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter)	113278	SLC52A3	Uncertain significance	rs745750480	RCV000811184\|RCV002381803;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	741707	741707	20:g.741707G>T	-
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)	113278	SLC52A3	Uncertain significance	rs145431028	RCV000191974\|RCV000493823\|RCV002381649\|RCV002485284;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500,Or	20	741709	741709	NC_000020.10:g.741709G>C	ClinGen:CA346996,UniProtKB:Q9NQ40#VAR_063701	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1368C>T (p.Leu456=)	113278	SLC52A3	Likely benign	-1	RCV001466100;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741712	741712	741712	-
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp)	113278	SLC52A3	Uncertain significance	rs939576852	RCV000540477;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741717	741717	20:g.741717G>A	ClinGen:CA310674010	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1359G>A (p.Val453=)	113278	SLC52A3	Likely benign	-1	RCV001405234;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741721	741721	741721	-
NM_033409.4(SLC52A3):c.1353C>G (p.Val451=)	113278	SLC52A3	Likely benign	-1	RCV001489094;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741727	741727	741727	-
NM_033409.4(SLC52A3):c.1340T>C (p.Met447Thr)	113278	SLC52A3	Uncertain significance	-1	RCV001952635;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741740	741740	741740	-
NM_033409.4(SLC52A3):c.1327_1338dup (p.Gly443_Leu446dup)	113278	SLC52A3	Uncertain significance	rs1462694166	RCV001206451;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741741	741742	20:g.741741_741742insGAGCAGCGCTCC	-
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del)	113278	SLC52A3	Uncertain significance	rs1462694166	RCV000800099;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741742	741753	20:g.741742_741753del	-
NM_033409.4(SLC52A3):c.1336C>T (p.Leu446Phe)	113278	SLC52A3	Uncertain significance	-1	RCV001890582;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741744	741744	741744	-
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro)	113278	SLC52A3	Uncertain significance	rs761224042	RCV000821600;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741746	741746	20:g.741746A>G	-
NM_033409.4(SLC52A3):c.1333C>G (p.Leu445Val)	113278	SLC52A3	Uncertain significance	-1	RCV001892785;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741747	741747	741747	-
NM_033409.4(SLC52A3):c.1329A>G (p.Gly443=)	113278	SLC52A3	Likely benign	rs1599955667	RCV000979363\|RCV001469379;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741751	741751	20:g.741751T>C	-
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs)	113278	SLC52A3	Likely pathogenic	rs794728004	RCV000000162\|RCV000494398;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	741754	741755	20:g.741754_741755del	ClinGen:CA113912,OMIM:613350.0001	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=)	113278	SLC52A3	Uncertain significance	rs754225887	RCV000813861;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741754	741754	20:g.741754G>T	-
NM_033409.4(SLC52A3):c.1320G>A (p.Ser440=)	113278	SLC52A3	Likely benign	-1	RCV002119654;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741760	741760	741760	-
NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp)	113278	SLC52A3	Likely pathogenic	rs1555783467	RCV000578156;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741764	741764	20:g.741764C>T	ClinGen:CA407961889	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His)	113278	SLC52A3	Uncertain significance	rs1555783468	RCV000532601;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741769	741769	20:g.741769C>G	ClinGen:CA407961899	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1306G>A (p.Val436Met)	113278	SLC52A3	Uncertain significance	-1	RCV002023451;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741774	741774	741774	-
NM_033409.4(SLC52A3):c.1305G>A (p.Ala435_Val436=)	113278	SLC52A3	Likely benign	-1	RCV003089582;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741775	741775	NC_000020.10:g.741775C>T	-
NM_033409.4(SLC52A3):c.1301C>T (p.Ala434Val)	113278	SLC52A3	Uncertain significance	-1	RCV001369318;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741779	741779	741779	-
NM_033409.4(SLC52A3):c.1300del (p.Ala434fs)	113278	SLC52A3	Uncertain significance	-1	RCV002852877;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741780	741780	NC_000020.10:g.741783del	-
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter)	113278	SLC52A3	not provided	rs758570021	RCV000191972;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741784	741784	20:g.741784G>T	ClinGen:CA346994	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=)	113278	SLC52A3	Likely benign	-1	RCV001468375;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741792	741792	741792	-
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)	113278	SLC52A3	Likely benign	rs139137879	RCV000552024\|RCV001577531\|RCV002377168;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	741802	741802	20:g.741802G>A	ClinGen:CA9724526	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1276C>T (p.Arg426Cys)	113278	SLC52A3	Uncertain significance	rs780025944	RCV001320117;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741804	741804	741804	-
NM_033409.4(SLC52A3):c.1273A>C (p.Ser425Arg)	113278	SLC52A3	Uncertain significance	-1	RCV002882271\|RCV002885964;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741807	741807	NC_000020.10:g.741807T>G	-
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe)	113278	SLC52A3	Uncertain significance	rs369230517	RCV000539545\|RCV001662605\|RCV002377167;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	741810	741810	20:g.741810G>A	ClinGen:CA9724529	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1266C>G (p.Arg422=)	113278	SLC52A3	Likely benign	-1	RCV001455171;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741814	741814	741814	-
NM_033409.4(SLC52A3):c.1265G>A (p.Arg422His)	113278	SLC52A3	Uncertain significance	-1	RCV001363528;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741815	741815	741815	-
NM_033409.4(SLC52A3):c.1260C>A (p.Val420=)	113278	SLC52A3	Likely benign	-1	RCV001464861;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741820	741820	741820	-
NM_033409.4(SLC52A3):c.1254C>T (p.Gly418=)	113278	SLC52A3	Likely benign	-1	RCV001927856;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741826	741826	741826	-
NM_033409.4(SLC52A3):c.1248G>A (p.Met416Ile)	113278	SLC52A3	Uncertain significance	-1	RCV002035755;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741832	741832	741832	-
NM_033409.4(SLC52A3):c.1241A>G (p.Lys414Arg)	113278	SLC52A3	Uncertain significance	-1	RCV003056675;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741839	741839	NC_000020.10:g.741839T>C	-
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)	113278	SLC52A3	Uncertain significance	rs267606687	RCV000000167\|RCV000826040;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374	20	741842	741842	NC_000020.10:g.741842A>G	ClinGen:CA339797,UniProtKB:Q9NQ40#VAR_063700,OMIM:613350.0006	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)	113278	SLC52A3	Benign	rs910857	RCV000244024\|RCV000836069\|RCV001516818\|RCV001544333;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	741847	741847	NC_000020.10:g.741847A>G	ClinGen:CA9724535	CN169374 not specified;
NC_000020.10:g.741847_741848insCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAG	113278	SLC52A3	Uncertain significance	-1	RCV001349642;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741847	741848	741847	-
NM_033409.4(SLC52A3):c.1233T>G (p.Ser411Arg)	113278	SLC52A3	Uncertain significance	-1	RCV001975291;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741847	741847	741847	-
NM_033409.4(SLC52A3):c.1226G>A (p.Cys409Tyr)	113278	SLC52A3	Uncertain significance	-1	RCV001907487;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741854	741854	741854	-
NM_033409.4(SLC52A3):c.1221C>T (p.Ser407=)	113278	SLC52A3	Likely benign	-1	RCV002090095;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741859	741859	741859	-
NM_033409.4(SLC52A3):c.1218C>A (p.Phe406Leu)	113278	SLC52A3	Uncertain significance	-1	RCV002297529;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741862	741862	741862	-
NM_033409.4(SLC52A3):c.1215T>C (p.Leu405=)	113278	SLC52A3	Likely benign	-1	RCV002108579;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741865	741865	741865	-
NM_033409.4(SLC52A3):c.1212G>A (p.Val404=)	113278	SLC52A3	Likely benign	-1	RCV002131607;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741868	741868	741868	-
NM_033409.4(SLC52A3):c.1210G>T (p.Val404Leu)	113278	SLC52A3	Uncertain significance	-1	RCV002657810;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741870	741870	NC_000020.10:g.741870C>A	-
NM_033409.4(SLC52A3):c.1206G>T (p.Ser402_Trp403=)	113278	SLC52A3	Likely benign	-1	RCV002958426;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741874	741874	NC_000020.10:g.741874C>A	-
NM_033409.4(SLC52A3):c.1204T>A (p.Ser402Thr)	113278	SLC52A3	Uncertain significance	-1	RCV001977545;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741876	741876	741876	-
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr)	113278	SLC52A3	Uncertain significance	rs544612142	RCV000705759;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741879	741879	20:g.741879C>T	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser)	113278	SLC52A3	Uncertain significance	rs544612142	RCV001214730\|RCV002348710;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	741879	741879	20:g.741879C>A	-
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=)	113278	SLC52A3	Likely benign	rs772196630	RCV000874911;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741880	741880	20:g.741880C>T	-
NM_033409.4(SLC52A3):c.1198-2A>C	113278	SLC52A3	Pathogenic	rs754753126	RCV000024020\|RCV000191970;	N	MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741884	741884	NC_000020.10:g.741884T>G	ClinGen:CA346993,OMIM:613350.0008	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1198-2A>G	113278	SLC52A3	Uncertain significance	rs754753126	RCV001206450;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741884	741884	20:g.741884T>C	-
NM_033409.4(SLC52A3):c.1198-6C>T	113278	SLC52A3	Likely benign	rs778730226	RCV000875108;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741888	741888	20:g.741888G>A	-
NM_033409.4(SLC52A3):c.1198-8C>A	113278	SLC52A3	Likely benign	-1	RCV001445517;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	741890	741890	741890	-
NM_033409.4(SLC52A3):c.1197+108C>T	113278	SLC52A3	Benign	-1	RCV001544335\|RCV001544334\|RCV001720314;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MedGen:CN517202	20	742237	742237	742237	-
NM_033409.4(SLC52A3):c.1197+106A>G	113278	SLC52A3	Benign	-1	RCV001544336\|RCV001544337\|RCV001655865;	N	MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	742239	742239	742239	-
NM_033409.4(SLC52A3):c.1197+18G>A	113278	SLC52A3	Uncertain significance	-1	RCV002001631;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742327	742327	742327	-
NM_033409.4(SLC52A3):c.1197+15G>T	113278	SLC52A3	Likely benign	-1	RCV002164396;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742330	742330	742330	-
NM_033409.4(SLC52A3):c.1197+14C>G	113278	SLC52A3	Likely benign	-1	RCV002118299;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742331	742331	742331	-
NM_033409.4(SLC52A3):c.1197+13C>T	113278	SLC52A3	Likely benign	-1	RCV002617765;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742332	742332	NC_000020.10:g.742332G>A	-
NM_033409.4(SLC52A3):c.1197+10C>T	113278	SLC52A3	Likely benign	-1	RCV002110644;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742335	742335	742335	-
NM_033409.4(SLC52A3):c.1195A>G (p.Ile399Val)	113278	SLC52A3	Uncertain significance	rs1986490652	RCV001065708;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742347	742347	20:g.742347T>C	-
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe)	113278	SLC52A3	Uncertain significance	rs774461829	RCV001248146\|RCV002570370;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	742350	742350	20:g.742350G>A	-
NM_033409.4(SLC52A3):c.1189G>A (p.Val397Ile)	113278	SLC52A3	Uncertain significance	-1	RCV002036026;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742353	742353	742353	-
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg)	113278	SLC52A3	Uncertain significance	rs762145813	RCV001223361\|RCV002563036;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	742365	742365	20:g.742365A>G	-
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp)	113278	SLC52A3	Uncertain significance	rs370820845	RCV001039519\|RCV001540911\|RCV002327265;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	742370	742370	20:g.742370C>T	-
NM_033409.4(SLC52A3):c.1162C>G (p.Leu388Val)	113278	SLC52A3	Uncertain significance	-1	RCV002359534\|RCV003102504;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742380	742380	742380	-
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu)	113278	SLC52A3	Uncertain significance	rs1164187566	RCV000796543;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742382	742382	20:g.742382G>A	-
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs1555783543	RCV000622896\|RCV001868146;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742386	742386	NC_000020.10:g.742386A>G	ClinGen:CA407962325	C0950123 Inborn genetic diseases;
NM_033409.4(SLC52A3):c.1154C>T (p.Pro385Leu)	113278	SLC52A3	Uncertain significance	rs1568717900	RCV000761460;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742388	742388	NC_000020.10:g.742388G>A	-
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile)	113278	SLC52A3	Uncertain significance	rs763995965	RCV000653714;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742393	742393	20:g.742393C>T	ClinGen:CA9724584	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1143G>A (p.Ala381=)	113278	SLC52A3	Likely benign	-1	RCV002152327;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742399	742399	742399	-
NM_033409.4(SLC52A3):c.1139T>C (p.Met380Thr)	113278	SLC52A3	Uncertain significance	-1	RCV002050849;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742403	742403	742403	-
NM_033409.4(SLC52A3):c.1130A>T (p.Asn377Ile)	113278	SLC52A3	Uncertain significance	rs1986495207	RCV001243679;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742412	742412	20:g.742412T>A	-
NM_033409.4(SLC52A3):c.1124G>T (p.Gly375Val)	113278	SLC52A3	Uncertain significance	-1	RCV002970676;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742418	742418	NC_000020.10:g.742418C>A	-
NM_033409.4(SLC52A3):c.1123G>T (p.Gly375Cys)	113278	SLC52A3	Uncertain significance	-1	RCV002296226;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742419	742419	742419	-
NM_033409.4(SLC52A3):c.1122G>A (p.Gly374=)	113278	SLC52A3	Likely benign	-1	RCV001446301;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742420	742420	742420	-
NM_033409.4(SLC52A3):c.1121G>A (p.Gly374Glu)	113278	SLC52A3	Uncertain significance	-1	RCV002971347;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742421	742421	NC_000020.10:g.742421C>T	-
NM_033409.4(SLC52A3):c.1105C>T (p.Leu369Phe)	113278	SLC52A3	Uncertain significance	rs748457215	RCV001221952;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742437	742437	20:g.742437G>A	-
NM_033409.4(SLC52A3):c.1104G>C (p.Val368_Leu369=)	113278	SLC52A3	Likely benign	-1	RCV003072444;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742438	742438	NC_000020.10:g.742438C>G	-
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met)	113278	SLC52A3	Uncertain significance	rs148181353	RCV000692067;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742440	742440	20:g.742440C>T	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1101C>G (p.Ser367_Val368=)	113278	SLC52A3	Likely benign	-1	RCV002796099;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742441	742441	NC_000020.10:g.742441G>C	-
NM_033409.4(SLC52A3):c.1096C>A (p.Leu366Ile)	113278	SLC52A3	Uncertain significance	-1	RCV001938721\|RCV002442887;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	742446	742446	742446	-
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=)	113278	SLC52A3	Likely benign	rs776667122	RCV000653723\|RCV002458151;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	742447	742447	20:g.742447G>A	ClinGen:CA9724599	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1093G>C (p.Val365Leu)	113278	SLC52A3	Uncertain significance	rs763929903	RCV001309403;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742449	742449	742449	-
NM_033409.4(SLC52A3):c.1093G>T (p.Val365Phe)	113278	SLC52A3	Uncertain significance	-1	RCV002037345;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742449	742449	742449	-
NM_033409.4(SLC52A3):c.1086C>G (p.Phe362Leu)	113278	SLC52A3	Uncertain significance	-1	RCV001900703;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742456	742456	742456	-
NM_033409.4(SLC52A3):c.1084T>C (p.Phe362Leu)	113278	SLC52A3	Uncertain significance	-1	RCV001910127;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742458	742458	742458	-
NM_033409.4(SLC52A3):c.1083G>A (p.Leu361=)	113278	SLC52A3	Likely benign	-1	RCV001446869;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742459	742459	742459	-
NM_033409.4(SLC52A3):c.1081C>A (p.Leu361Met)	113278	SLC52A3	Uncertain significance	-1	RCV002750180;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742461	742461	NC_000020.10:g.742461G>T	-
NM_033409.4(SLC52A3):c.1074-4C>A	113278	SLC52A3	Likely benign	-1	RCV002811463;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742472	742472	NC_000020.10:g.742472G>T	-
NM_033409.4(SLC52A3):c.1074-8T>C	113278	SLC52A3	Likely benign	-1	RCV002958481;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742476	742476	NC_000020.10:g.742476A>G	-
NM_033409.4(SLC52A3):c.1074-16C>G	113278	SLC52A3	Likely benign	-1	RCV002600969;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742484	742484	NC_000020.10:g.742484G>C	-
NM_033409.4(SLC52A3):c.1074-16C>T	113278	SLC52A3	Likely benign	-1	RCV003034376;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	742484	742484	NC_000020.10:g.742484G>A	-
NM_033409.4(SLC52A3):c.1073+92T>C	113278	SLC52A3	Benign	-1	RCV001544338\|RCV001544339\|RCV001685495;	N	MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	744050	744050	744050	-
NM_033409.4(SLC52A3):c.1073+16G>A	113278	SLC52A3	Likely benign	-1	RCV002200782;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744126	744126	744126	-
NM_033409.4(SLC52A3):c.1073+11A>C	113278	SLC52A3	Likely benign	-1	RCV002766646;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744131	744131	NC_000020.10:g.744131T>G	-
NM_033409.4(SLC52A3):c.1073+10C>T	113278	SLC52A3	Likely benign	-1	RCV001429619;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744132	744132	744132	-
NC_000020.10:g.(?_744142)_(745909_?)del	113278	SLC52A3	Likely pathogenic	-1	RCV003122967;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744142	745909		-
NM_033409.4(SLC52A3):c.1062C>G (p.Phe354Leu)	113278	SLC52A3	Uncertain significance	-1	RCV001365658;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744153	744153	744153	-
NM_033409.4(SLC52A3):c.1053C>T (p.Val351=)	113278	SLC52A3	Likely benign	rs766126275	RCV000978161\|RCV001452561;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744162	744162	20:g.744162G>A	-
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)	113278	SLC52A3	Benign/Likely benign	rs76947760	RCV000191969\|RCV000514570\|RCV000604517;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MedGen:CN169374	20	744167	744167	NC_000020.10:g.744167A>T	ClinGen:CA346991,UniProtKB:Q9NQ40#VAR_063698	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=)	113278	SLC52A3	Benign/Likely benign	rs147369439	RCV000540318\|RCV001449782\|RCV001562785\|RCV002404562;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744168	744168	20:g.744168C>T	ClinGen:CA9724628	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.1047G>C (p.Ser349=)	113278	SLC52A3	Likely benign	-1	RCV002088954;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744168	744168	744168	-
NM_033409.4(SLC52A3):c.1038T>G (p.Pro346_Leu347=)	113278	SLC52A3	Likely benign	-1	RCV002996709;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744177	744177	NC_000020.10:g.744177A>C	-
NM_033409.4(SLC52A3):c.1037C>G (p.Pro346Arg)	113278	SLC52A3	Uncertain significance	-1	RCV001369144;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744178	744178	744178	-
NM_033409.4(SLC52A3):c.1027G>A (p.Val343Met)	113278	SLC52A3	Conflicting interpretations of pathogenicity	-1	RCV001974084\|RCV002386849;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744188	744188	744188	-
NM_033409.4(SLC52A3):c.1027G>T (p.Val343Leu)	113278	SLC52A3	Uncertain significance	-1	RCV003081517;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744188	744188	NC_000020.10:g.744188C>A	-
NM_033409.4(SLC52A3):c.1017C>T (p.Thr339_Leu340=)	113278	SLC52A3	Likely benign	-1	RCV002847890;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744198	744198	NC_000020.10:g.744198G>A	-
NM_033409.4(SLC52A3):c.1014C>T (p.Ala338=)	113278	SLC52A3	Likely benign	-1	RCV001482918;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744201	744201	744201	-
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr)	113278	SLC52A3	Uncertain significance	rs139542858	RCV000826041\|RCV002536077;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744206	744206	20:g.744206C>T	-
NM_033409.4(SLC52A3):c.1009G>C (p.Ala337Pro)	113278	SLC52A3	Uncertain significance	-1	RCV002802102;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744206	744206	NC_000020.10:g.744206C>G	-
NM_033409.4(SLC52A3):c.1000T>C (p.Tyr334His)	113278	SLC52A3	Uncertain significance	rs1986560425	RCV001325168;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744215	744215	744215	-
NM_033409.4(SLC52A3):c.995T>C (p.Val332Ala)	113278	SLC52A3	Uncertain significance	-1	RCV002937622;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744220	744220	NC_000020.10:g.744220A>G	-
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile)	113278	SLC52A3	Uncertain significance	rs890765839	RCV000545740\|RCV002384254;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744221	744221	NC_000020.10:g.744221C>T	ClinGen:CA310676999	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val)	113278	SLC52A3	not provided	rs797045196	RCV000191968;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744226	744226	20:g.744226C>A	ClinGen:CA346989,UniProtKB:Q9NQ40#VAR_077431	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=)	113278	SLC52A3	Likely benign	rs376546378	RCV000653718\|RCV002386115;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744228	744228	NC_000020.10:g.744228A>G	ClinGen:CA9724635	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys)	113278	SLC52A3	not provided	-1	RCV001774819;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744229	744229	744229	-
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=)	113278	SLC52A3	Benign/Likely benign	rs62641669	RCV000533298\|RCV001555775\|RCV002377174;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744234	744234	20:g.744234C>G	ClinGen:CA9724636	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.979C>T (p.Leu327=)	113278	SLC52A3	Likely benign	rs774366292	RCV000900982\|RCV001497131;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744236	744236	20:g.744236G>A	-
NM_033409.4(SLC52A3):c.974C>T (p.Ser325Phe)	113278	SLC52A3	Uncertain significance	rs748083229	RCV001343916;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744241	744241	744241	-
NM_033409.4(SLC52A3):c.965A>G (p.Gln322Arg)	113278	SLC52A3	Uncertain significance	rs1986562969	RCV001298670;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744250	744250	744250	-
NM_033409.4(SLC52A3):c.959C>G (p.Ser320Cys)	113278	SLC52A3	Uncertain significance	rs535368648	RCV001340863\|RCV002384461;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744256	744256	744256	-
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser)	113278	SLC52A3	not provided	rs797045195	RCV000191967;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744260	744260	20:g.744260G>A	ClinGen:CA346987,UniProtKB:Q9NQ40#VAR_077430	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.954G>A (p.Leu318=)	113278	SLC52A3	Likely benign	rs147508914	RCV000930238\|RCV001475102;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744261	744261	20:g.744261C>T	-
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs1027231153	RCV001195346\|RCV001859176\|RCV002561032;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744264	744264	20:g.744264C>T	-
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr)	113278	SLC52A3	Uncertain significance	rs1251411780	RCV000704874;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744265	744265	NC_000020.10:g.744265A>G	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser)	113278	SLC52A3	Uncertain significance	rs372400886	RCV001051448\|RCV001552328\|RCV002445268;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744269	744269	20:g.744269C>T	-
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=)	113278	SLC52A3	Likely benign	rs139430185	RCV000552608\|RCV002253510\|RCV002377173;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744270	744270	20:g.744270G>A	ClinGen:CA9724644	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=)	113278	SLC52A3	Benign/Likely benign	rs6054602	RCV000539683\|RCV001553511\|RCV002377172;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744279	744279	NC_000020.10:g.744279C>T	ClinGen:CA9724645	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val)	113278	SLC52A3	Uncertain significance	rs752218005	RCV000191966;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744280	744280	20:g.744280G>A	UniProtKB:Q9NQ40#VAR_077429,ClinGen:CA346985	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.934G>A (p.Ala312Thr)	113278	SLC52A3	Uncertain significance	-1	RCV002574521;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744281	744281	NC_000020.10:g.744281C>T	-
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=)	113278	SLC52A3	Likely benign	rs534678154	RCV000555754\|RCV002377171;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744282	744282	20:g.744282G>A	ClinGen:CA9724647	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.928G>A (p.Val310Ile)	113278	SLC52A3	Uncertain significance	-1	RCV002005259\|RCV002370637;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744287	744287	744287	-
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn)	113278	SLC52A3	Uncertain significance	rs201254395	RCV000696012;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744301	744301	20:g.744301G>T	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.909C>T (p.Ile303_Tyr304=)	113278	SLC52A3	Likely benign	-1	RCV002966123;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744306	744306	NC_000020.10:g.744306G>A	-
NM_033409.4(SLC52A3):c.908T>C (p.Ile303Thr)	113278	SLC52A3	Uncertain significance	-1	RCV003078917;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744307	744307	NC_000020.10:g.744307A>G	-
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)	113278	SLC52A3	Benign	rs3746802	RCV000242118\|RCV001538142\|RCV001523330\|RCV002500929;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	744308	744308	20:g.744308T>C	ClinGen:CA9724655,UniProtKB:Q9NQ40#VAR_053569	CN169374 not specified;
NM_033409.4(SLC52A3):c.901G>A (p.Ala301Thr)	113278	SLC52A3	Uncertain significance	rs1986566773	RCV001316285;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744314	744314	744314	-
NM_033409.4(SLC52A3):c.895C>T (p.His299Tyr)	113278	SLC52A3	Uncertain significance	rs1986566985	RCV001060855\|RCV001593240\|RCV002374953;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744320	744320	20:g.744320G>A	-
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=)	113278	SLC52A3	Likely benign	rs532778217	RCV000538591\|RCV002377170;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744321	744321	20:g.744321C>T	ClinGen:CA9724657	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val)	113278	SLC52A3	Uncertain significance	rs543436922	RCV000653715\|RCV001731846;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	744322	744322	20:g.744322G>A	ClinGen:CA9724658	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.891G>C (p.Pro297=)	113278	SLC52A3	Likely benign	-1	RCV002108258;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744324	744324	744324	-
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu)	113278	SLC52A3	Uncertain significance	rs201990981	RCV000690964\|RCV002369857;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744325	744325	20:g.744325G>A	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.878C>A (p.Ala293Asp)	113278	SLC52A3	Uncertain significance	rs774918391	RCV001053839;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744337	744337	20:g.744337G>T	-
NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys)	113278	SLC52A3	Uncertain significance	rs142265627	RCV001202337\|RCV001586041\|RCV002375128;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744350	744350	20:g.744350C>T	-
NM_033409.4(SLC52A3):c.858G>T (p.Gly286=)	113278	SLC52A3	Likely benign	rs752020540	RCV000908503\|RCV001396203;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744357	744357	20:g.744357C>A	-
NM_033409.4(SLC52A3):c.858G>A (p.Gly286_Tyr287=)	113278	SLC52A3	Likely benign	-1	RCV002993743;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744357	744357	NC_000020.10:g.744357C>T	-
NM_033409.4(SLC52A3):c.857G>A (p.Gly286Glu)	113278	SLC52A3	Uncertain significance	rs762187343	RCV001340035;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744358	744358	744358	-
NM_033409.4(SLC52A3):c.840C>A (p.Asp280Glu)	113278	SLC52A3	Uncertain significance	-1	RCV003016024;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744375	744375	NC_000020.10:g.744375G>T	-
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=)	113278	SLC52A3	Likely benign	rs756359704	RCV000525748\|RCV001446085\|RCV002438490\|RCV002497192;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500,Or	20	744381	744381	20:g.744381C>T	ClinGen:CA9724669	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)	113278	SLC52A3	Benign	rs3746803	RCV000250284\|RCV001523331\|RCV001640575\|RCV002500928;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	744382	744382	20:g.744382G>A	ClinGen:CA9724670,UniProtKB:Q9NQ40#VAR_053568	CN169374 not specified;
NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg)	113278	SLC52A3	Uncertain significance	rs3746803	RCV001041237\|RCV002436552;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744382	744382	20:g.744382G>C	-
NM_033409.4(SLC52A3):c.829G>A (p.Gly277Ser)	113278	SLC52A3	Uncertain significance	rs1310858614	RCV001215730;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744386	744386	20:g.744386C>T	-
NM_033409.4(SLC52A3):c.827C>T (p.Ala276Val)	113278	SLC52A3	Uncertain significance	-1	RCV001998435;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744388	744388	744388	-
NM_033409.4(SLC52A3):c.816C>T (p.Asp272_Leu273=)	113278	SLC52A3	Likely benign	-1	RCV002996631;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744399	744399	NC_000020.10:g.744399G>A	-
NM_033409.4(SLC52A3):c.814G>C (p.Asp272His)	113278	SLC52A3	Uncertain significance	-1	RCV001881307;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744401	744401	744401	-
NM_033409.4(SLC52A3):c.814G>A (p.Asp272Asn)	113278	SLC52A3	Uncertain significance	-1	RCV001990782;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744401	744401	744401	-
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln)	113278	SLC52A3	Uncertain significance	rs111912321	RCV000803756\|RCV001797145;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	744412	744412	20:g.744412C>T	-
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=)	113278	SLC52A3	Likely benign	rs145498634	RCV000876463\|RCV001593107;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	744413	744413	20:g.744413G>T	-
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs145498634	RCV001095540\|RCV001203115\|RCV002411628;	N	MONDO:MONDO:0015307,MedGen:C0393551, Orphanet:137867\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744413	744413	20:g.744413G>A	-
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=)	113278	SLC52A3	Likely benign	rs146474751	RCV000653720\|RCV001487092\|RCV002422416;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744414	744414	20:g.744414C>T	ClinGen:CA9724679	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu)	113278	SLC52A3	Benign	rs3746804	RCV000245544\|RCV001516819\|RCV001610741;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	744415	744415	20:g.744415G>A	ClinGen:CA9724680,UniProtKB:Q9NQ40#VAR_053567	CN169374 not specified;
NM_033409.4(SLC52A3):c.798G>A (p.Arg266_Pro267=)	113278	SLC52A3	Likely benign	-1	RCV002616490;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744417	744417	NC_000020.10:g.744417C>T	-
NM_033409.4(SLC52A3):c.797G>A (p.Arg266Gln)	113278	SLC52A3	Uncertain significance	rs768105926	RCV001299238;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744418	744418	744418	-
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp)	113278	SLC52A3	Uncertain significance	rs370499474	RCV000191965\|RCV000483942\|RCV002415816;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	744419	744419	NC_000020.10:g.744419G>A	ClinGen:CA346983,UniProtKB:Q9NQ40#VAR_077428	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.795C>A (p.Ile265=)	113278	SLC52A3	Likely benign	rs1229887026	RCV000928412\|RCV001470229;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744420	744420	20:g.744420G>T	-
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)	113278	SLC52A3	Uncertain significance	rs150159842	RCV000703005\|RCV002406635\|RCV002499264;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	744428	744428	NC_000020.10:g.744428G>A	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.774C>T (p.Asp258=)	113278	SLC52A3	Likely benign	-1	RCV001464564;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744441	744441	744441	-
NM_033409.4(SLC52A3):c.771T>C (p.Asn257=)	113278	SLC52A3	Likely benign	-1	RCV002205367;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744444	744444	744444	-
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)	113278	SLC52A3	Benign	rs3746805	RCV000252910\|RCV001521145\|RCV001544340\|RCV001598643;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MedGen:CN517202	20	744450	744450	20:g.744450G>A	ClinGen:CA9724687	CN169374 not specified;
NM_033409.4(SLC52A3):c.765C>G (p.Leu255=)	113278	SLC52A3	Likely benign	-1	RCV001427490;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744450	744450	744450	-
NM_033409.4(SLC52A3):c.763C>T (p.Leu255Phe)	113278	SLC52A3	Uncertain significance	rs1986576660	RCV001348455\|RCV002395771;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744452	744452	744452	-
NM_033409.4(SLC52A3):c.761A>T (p.Asp254Val)	113278	SLC52A3	Uncertain significance	-1	RCV002671926;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744454	744454	NC_000020.10:g.744454T>A	-
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met)	113278	SLC52A3	Uncertain significance	rs757318492	RCV000816068;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744461	744461	20:g.744461C>T	-
NM_033409.4(SLC52A3):c.753del (p.Val252fs)	113278	SLC52A3	Pathogenic/Likely pathogenic	rs1568721373	RCV000761355\|RCV002388384;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744462	744462	NC_000020.10:g.744463del	-
NM_033409.4(SLC52A3):c.753C>T (p.Ser251=)	113278	SLC52A3	Likely benign	-1	RCV001475493;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744462	744462	744462	-
NM_033409.4(SLC52A3):c.746A>G (p.Glu249Gly)	113278	SLC52A3	Uncertain significance	-1	RCV001865127;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744469	744469	744469	-
NM_033409.4(SLC52A3):c.745G>A (p.Glu249Lys)	113278	SLC52A3	Uncertain significance	-1	RCV003045408;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744470	744470	NC_000020.10:g.744470C>T	-
NM_033409.4(SLC52A3):c.742del (p.Trp248fs)	113278	SLC52A3	Likely pathogenic	-1	RCV002289053;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744473	744473	744472	-
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His)	113278	SLC52A3	Uncertain significance	rs748986274	RCV000806603\|RCV002381780;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744487	744487	20:g.744487C>T	-
NM_033409.4(SLC52A3):c.727C>A (p.Arg243Ser)	113278	SLC52A3	Uncertain significance	rs1287029928	RCV001316925;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744488	744488	744488	-
NM_033409.4(SLC52A3):c.726G>A (p.Gln242_Arg243=)	113278	SLC52A3	Likely benign	-1	RCV003064773;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744489	744489	NC_000020.10:g.744489C>T	-
NM_033409.4(SLC52A3):c.718G>A (p.Val240Ile)	113278	SLC52A3	Uncertain significance	-1	RCV002755258;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744497	744497	NC_000020.10:g.744497C>T	-
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=)	113278	SLC52A3	Likely benign	rs183391382	RCV000877333;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744504	744504	20:g.744504C>T	-
NM_033409.4(SLC52A3):c.710C>T (p.Ala237Val)	113278	SLC52A3	not provided	-1	RCV001774818;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744505	744505	744505	-
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met)	113278	SLC52A3	Uncertain significance	rs927297761	RCV000810466\|RCV002363092;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744509	744509	20:g.744509C>T	-
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=)	113278	SLC52A3	Benign/Likely benign	rs3746806	RCV000549609\|RCV000825090\|RCV001591300;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202	20	744510	744510	NC_000020.10:g.744510G>A	ClinGen:CA9724699	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.705C>A (p.Leu235=)	113278	SLC52A3	Benign	rs3746806	RCV000878393;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744510	744510	20:g.744510G>T	-
NM_033409.4(SLC52A3):c.694G>T (p.Ala232Ser)	113278	SLC52A3	Uncertain significance	-1	RCV003062816;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744521	744521	NC_000020.10:g.744521C>A	-
NM_033409.4(SLC52A3):c.685A>C (p.Ile229Leu)	113278	SLC52A3	Uncertain significance	-1	RCV003114928;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744530	744530	NC_000020.10:g.744530T>G	-
NM_033409.4(SLC52A3):c.676C>T (p.Leu226Phe)	113278	SLC52A3	Uncertain significance	-1	RCV002639535;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744539	744539	NC_000020.10:g.744539G>A	-
NM_033409.4(SLC52A3):c.667TTC[1] (p.Phe224del)	113278	SLC52A3	Uncertain significance	-1	RCV002050967;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744543	744545	744542	-
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys)	113278	SLC52A3	Uncertain significance	rs797045197	RCV002304039;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744544	744544	744544	-
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu)	113278	SLC52A3	Pathogenic	rs267606685	RCV000000165;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744545	744545	20:g.744545A>G	ClinGen:CA339795,UniProtKB:Q9NQ40#VAR_063696,OMIM:613350.0004	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.661C>A (p.Leu221Met)	113278	SLC52A3	Uncertain significance	rs1599958133	RCV001345328;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744554	744554	744554	-
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His)	113278	SLC52A3	not provided	rs797045194	RCV000191964;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744556	744556	20:g.744556G>T	ClinGen:CA346981,UniProtKB:Q9NQ40#VAR_077427	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.658C>T (p.Pro220Ser)	113278	SLC52A3	Uncertain significance	-1	RCV002795414;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744557	744557	NC_000020.10:g.744557G>A	-
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr)	113278	SLC52A3	Uncertain significance	rs202130911	RCV000695538\|RCV002360767;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744569	744569	NC_000020.10:g.744569C>T	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=)	113278	SLC52A3	Benign	rs6054605	RCV000249785\|RCV000836079\|RCV001516349;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744570	744570	NC_000020.10:g.744570G>A	ClinGen:CA9724711	CN169374 not specified;
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)	113278	SLC52A3	Pathogenic	rs778363575	RCV000191963\|RCV002247619\|RCV002354538;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MeSH:D030342,MedGen:C0950123	20	744576	744576	NC_000020.10:g.744576G>C	ClinGen:CA346979,OMIM:613350.0010	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.639C>T (p.Tyr213=)	113278	SLC52A3	Likely benign	-1	RCV001400159;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744576	744576	744576	-
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs778479139	RCV000191977\|RCV001195405;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374	20	744581	744581	20:g.744581G>A	ClinGen:CA347001	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys)	113278	SLC52A3	Uncertain significance	rs747663714	RCV000653716\|RCV002360661;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744587	744587	20:g.744587C>T	ClinGen:CA9724714	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.619T>A (p.Ser207Thr)	113278	SLC52A3	Uncertain significance	rs1986585692	RCV001217366;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744596	744596	20:g.744596A>T	-
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=)	113278	SLC52A3	Likely benign	rs1418663109	RCV000653722\|RCV002358888;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	744597	744597	20:g.744597C>T	ClinGen:CA509341529	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.615C>T (p.Pro205=)	113278	SLC52A3	Likely benign	rs771572751	RCV000871371;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744600	744600	20:g.744600G>A	-
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg)	113278	SLC52A3	Uncertain significance	rs565998859	RCV000822051;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744614	744614	20:g.744614C>T	-
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)	113278	SLC52A3	Benign	rs16992990	RCV000245038\|RCV000541843\|RCV001689926\|RCV002494770;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	744615	744615	20:g.744615G>A	ClinGen:CA9724717	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.599C>T (p.Pro200Leu)	113278	SLC52A3	Uncertain significance	-1	RCV001935192;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744616	744616	744616	-
NM_033409.4(SLC52A3):c.597C>T (p.Leu199=)	113278	SLC52A3	Likely benign	-1	RCV001400208;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744618	744618	744618	-
NM_033409.4(SLC52A3):c.592G>A (p.Ala198Thr)	113278	SLC52A3	Uncertain significance	-1	RCV001982212;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744623	744623	744623	-
NM_033409.4(SLC52A3):c.591C>T (p.Ser197_Ala198=)	113278	SLC52A3	Likely benign	-1	RCV002895843;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744624	744624	NC_000020.10:g.744624G>A	-
NM_033409.4(SLC52A3):c.568-4G>T	113278	SLC52A3	Likely benign	-1	RCV001440176;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744651	744651	744651	-
NM_033409.4(SLC52A3):c.568-11G>A	113278	SLC52A3	Likely benign	-1	RCV002962868;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744658	744658	NC_000020.10:g.744658C>T	-
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC	113278	SLC52A3	Benign	rs3833341	RCV000191962\|RCV000253239\|RCV001597026;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202	20	744662	744663	20:g.744662_744663insCAGGTCAAT	ClinGen:CA9724728	CN169374 not specified;
NM_033409.4(SLC52A3):c.568-17T>C	113278	SLC52A3	Likely benign	-1	RCV002154924;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	744664	744664	744664	-
NM_033409.4(SLC52A3):c.568-200T>C	113278	SLC52A3	Benign	-1	RCV001544408\|RCV001544409\|RCV001673177;	N	MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	744847	744847	744847	-
NM_033409.4(SLC52A3):c.567+17G>A	113278	SLC52A3	Likely benign	-1	RCV002903544;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745835	745835	NC_000020.10:g.745835C>T	-
NM_033409.4(SLC52A3):c.567+16C>T	113278	SLC52A3	Likely benign	-1	RCV002075131;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745836	745836	745836	-
NM_033409.4(SLC52A3):c.567+15C>A	113278	SLC52A3	Likely benign	-1	RCV002204988;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745837	745837	745837	-
NM_033409.4(SLC52A3):c.567+6C>T	113278	SLC52A3	Uncertain significance	-1	RCV001937702;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745846	745846	745846	-
NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr)	113278	SLC52A3	Uncertain significance	-1	RCV002029381;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745857	745857	745857	-
NM_033409.4(SLC52A3):c.561C>T (p.Ile187_Ala188=)	113278	SLC52A3	Likely benign	-1	RCV002750748;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745858	745858	NC_000020.10:g.745858G>A	-
NM_033409.4(SLC52A3):c.558C>T (p.Asp186=)	113278	SLC52A3	Likely benign	-1	RCV001439348;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745861	745861	745861	-
NM_033409.4(SLC52A3):c.554C>A (p.Thr185Asn)	113278	SLC52A3	Uncertain significance	-1	RCV001863736;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745865	745865	745865	-
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter)	113278	SLC52A3	Pathogenic	-1	RCV001383229\|RCV002350729;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	745869	745869	745869	-
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=)	113278	SLC52A3	Likely benign	rs139965967	RCV000524717\|RCV000615203\|RCV002350386;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	20	745873	745873	20:g.745873C>T	ClinGen:CA9724755	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.546G>T (p.Thr182=)	113278	SLC52A3	Likely benign	-1	RCV001430798;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745873	745873	745873	-
NM_033409.4(SLC52A3):c.545C>T (p.Thr182Met)	113278	SLC52A3	Uncertain significance	-1	RCV002000576;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745874	745874	745874	-
NM_033409.4(SLC52A3):c.542C>A (p.Pro181His)	113278	SLC52A3	Uncertain significance	-1	RCV003095841;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745877	745877	NC_000020.10:g.745877G>T	-
NM_033409.4(SLC52A3):c.526G>A (p.Val176Ile)	113278	SLC52A3	Uncertain significance	rs781769616	RCV001222998\|RCV001546780;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	745893	745893	20:g.745893C>T	-
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg)	113278	SLC52A3	Uncertain significance	rs143641819	RCV000550541\|RCV002341461;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	745894	745894	20:g.745894G>C	ClinGen:CA407963661	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.525C>T (p.Ser175=)	113278	SLC52A3	Likely benign	rs143641819	RCV000872431;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745894	745894	20:g.745894G>A	-
NM_033409.4(SLC52A3):c.525C>A (p.Ser175Arg)	113278	SLC52A3	Uncertain significance	rs143641819	RCV001057369;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745894	745894	20:g.745894G>T	-
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly)	113278	SLC52A3	Benign/Likely benign	rs6054614	RCV000537910\|RCV000825091\|RCV001544835;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202	20	745898	745898	NC_000020.10:g.745898T>C	ClinGen:CA9724760	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro)	113278	SLC52A3	Uncertain significance	rs749602815	RCV000689783\|RCV002334276;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	745902	745902	20:g.745902A>G	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr)	113278	SLC52A3	Uncertain significance	rs774371416	RCV000819738;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745904	745904	20:g.745904A>G	-
NM_033409.4(SLC52A3):c.514A>G (p.Ile172Val)	113278	SLC52A3	Uncertain significance	rs201479216	RCV001234207;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745905	745905	20:g.745905T>C	-
NM_033409.4(SLC52A3):c.510T>C (p.Thr170=)	113278	SLC52A3	Likely benign	rs772092979	RCV000876524\|RCV001428678;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745909	745909	20:g.745909A>G	-
NM_033409.4(SLC52A3):c.503A>G (p.Asn168Ser)	113278	SLC52A3	Uncertain significance	-1	RCV002651362;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745916	745916	NC_000020.10:g.745916T>C	-
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile)	113278	SLC52A3	Uncertain significance	rs112034541	RCV000795720\|RCV001759504\|RCV002334480;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	745920	745920	20:g.745920C>T	-
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=)	113278	SLC52A3	Likely benign	rs377618514	RCV000937677;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745921	745921	20:g.745921G>A	-
NM_033409.4(SLC52A3):c.491C>A (p.Thr164Asn)	113278	SLC52A3	Uncertain significance	-1	RCV001893326;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745928	745928	745928	-
NM_033409.4(SLC52A3):c.485G>T (p.Gly162Val)	113278	SLC52A3	Uncertain significance	rs1986638928	RCV001047843;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745934	745934	20:g.745934C>A	-
NM_033409.4(SLC52A3):c.481_484dup (p.Gly162fs)	113278	SLC52A3	Pathogenic	-1	RCV001957312;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745934	745935	745934	-
NM_033409.4(SLC52A3):c.484G>A (p.Gly162Ser)	113278	SLC52A3	Uncertain significance	-1	RCV001546827\|RCV002032565\|RCV002334591;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	745935	745935	745935	-
NM_033409.4(SLC52A3):c.483C>T (p.Ser161=)	113278	SLC52A3	Likely benign	rs113754514	RCV000877626\|RCV001447425;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745936	745936	20:g.745936G>A	-
NM_033409.4(SLC52A3):c.478G>A (p.Gly160Ser)	113278	SLC52A3	Uncertain significance	rs199778195	RCV001338083\|RCV002546836;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	745941	745941	745941	-
NM_033409.4(SLC52A3):c.468T>C (p.Ala156=)	113278	SLC52A3	Likely benign	-1	RCV002197451;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745951	745951	745951	-
NM_033409.4(SLC52A3):c.463G>T (p.Val155Leu)	113278	SLC52A3	Uncertain significance	-1	RCV001978555;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745956	745956	745956	-
NM_033409.4(SLC52A3):c.457G>A (p.Ala153Thr)	113278	SLC52A3	Uncertain significance	rs767174206	RCV001061184;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745962	745962	20:g.745962C>T	-
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=)	113278	SLC52A3	Benign	rs3746807	RCV000249280\|RCV001510810\|RCV001711837;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	745963	745963	20:g.745963G>A	ClinGen:CA9724776	CN169374 not specified;
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=)	113278	SLC52A3	Likely benign	rs551722690	RCV000875408;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745975	745975	20:g.745975G>A	-
NM_033409.4(SLC52A3):c.441C>A (p.Leu147=)	113278	SLC52A3	Likely benign	-1	RCV001398843;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745978	745978	745978	-
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=)	113278	SLC52A3	Likely benign	rs149076913	RCV000653719\|RCV002331266;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	745981	745981	20:g.745981T>C	ClinGen:CA9724783	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.436G>A (p.Gly146Arg)	113278	SLC52A3	Uncertain significance	-1	RCV002814319;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745983	745983	NC_000020.10:g.745983C>T	-
NM_033409.4(SLC52A3):c.432T>C (p.Gly144=)	113278	SLC52A3	Likely benign	-1	RCV002155602;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	745987	745987	745987	-
NM_033409.4(SLC52A3):c.414C>G (p.Leu138=)	113278	SLC52A3	Likely benign	-1	RCV001462779;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746005	746005	746005	-
NM_033409.4(SLC52A3):c.414C>A (p.Leu138=)	113278	SLC52A3	Likely benign	-1	RCV002195570;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746005	746005	746005	-
NM_033409.4(SLC52A3):c.411C>T (p.Tyr137_Leu138=)	113278	SLC52A3	Likely benign	-1	RCV002584841;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746008	746008	NC_000020.10:g.746008G>A	-
NM_033409.4(SLC52A3):c.408C>G (p.Tyr136Ter)	113278	SLC52A3	Pathogenic	-1	RCV003069121;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746011	746011	NC_000020.10:g.746011G>C	-
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala)	113278	SLC52A3	Uncertain significance	rs527853872	RCV000191976\|RCV001753593\|RCV002354539;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	746016	746016	20:g.746016T>C	ClinGen:CA346999	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs142157418	RCV000557473\|RCV000825236\|RCV001540821\|RCV002377169;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	746024	746024	NC_000020.10:g.746024C>T	ClinGen:CA9724788	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)	113278	SLC52A3	Uncertain significance	rs267606684	RCV000000164;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746025	746025	20:g.746025G>A	OMIM:613350.0003,ClinGen:CA339794,UniProtKB:Q9NQ40#VAR_063695	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.394C>A (p.Arg132=)	113278	SLC52A3	Uncertain significance	rs267606684	RCV001062482;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746025	746025	20:g.746025G>T	-
NM_033409.4(SLC52A3):c.384G>A (p.Pro128=)	113278	SLC52A3	Likely benign	-1	RCV001412629;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746035	746035	746035	-
NM_033409.4(SLC52A3):c.383C>T (p.Pro128Leu)	113278	SLC52A3	Uncertain significance	rs890766612	RCV001312662;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746036	746036	746036	-
NM_033409.4(SLC52A3):c.378C>T (p.Phe126=)	113278	SLC52A3	Likely benign	rs1599959231	RCV000916354\|RCV001503719;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746041	746041	20:g.746041G>A	-
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs767263985	RCV001823390\|RCV001869811\|RCV002542728;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746045	746045	746045	-
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=)	113278	SLC52A3	Benign/Likely benign	rs749966154	RCV000653717\|RCV000825830\|RCV002458149;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	20	746056	746056	NC_000020.10:g.746056G>C	ClinGen:CA9724791	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.353T>A (p.Val118Glu)	113278	SLC52A3	Uncertain significance	-1	RCV003048964;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746066	746066	NC_000020.10:g.746066A>T	-
NM_033409.4(SLC52A3):c.352G>A (p.Val118Met)	113278	SLC52A3	Uncertain significance	-1	RCV001916099;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746067	746067	746067	-
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=)	113278	SLC52A3	Benign/Likely benign	rs151229044	RCV000653721\|RCV000825831\|RCV001310442\|RCV002458150;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	746080	746080	NC_000020.10:g.746080G>A	ClinGen:CA9724794	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe)	113278	SLC52A3	Uncertain significance	rs1599959281	RCV000792095;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746092	746092	20:g.746092C>A	-
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)	113278	SLC52A3	Benign	rs3746808	RCV000244524\|RCV001516820\|RCV001538839\|RCV001544410;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	746098	746098	NC_000020.10:g.746098G>A	ClinGen:CA9724798	CN169374 not specified;
NM_033409.4(SLC52A3):c.320C>G (p.Ala107Gly)	113278	SLC52A3	Uncertain significance	-1	RCV001890684;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746099	746099	746099	-
NM_033409.4(SLC52A3):c.320C>T (p.Ala107Val)	113278	SLC52A3	Uncertain significance	-1	RCV002324576\|RCV003099294;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746099	746099	746099	-
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr)	113278	SLC52A3	Uncertain significance	rs370718326	RCV000536570\|RCV002526738;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746100	746100	NC_000020.10:g.746100C>T	ClinGen:CA9724799	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.314G>A (p.Ser105Asn)	113278	SLC52A3	Uncertain significance	-1	RCV001935708;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746105	746105	746105	-
NM_033409.4(SLC52A3):c.311A>G (p.His104Arg)	113278	SLC52A3	Uncertain significance	rs201152444	RCV001063710;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746108	746108	20:g.746108T>C	-
NM_033409.4(SLC52A3):c.305G>A (p.Gly102Asp)	113278	SLC52A3	Uncertain significance	rs888740621	RCV001060129\|RCV002445315;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746114	746114	20:g.746114C>T	-
NM_033409.4(SLC52A3):c.304G>A (p.Gly102Ser)	113278	SLC52A3	Uncertain significance	rs770944402	RCV001059778;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746115	746115	20:g.746115C>T	-
NM_033409.4(SLC52A3):c.303C>T (p.Asp101=)	113278	SLC52A3	Likely benign	rs137861276	RCV000919652;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746116	746116	20:g.746116G>A	-
NM_033409.4(SLC52A3):c.303C>A (p.Asp101Glu)	113278	SLC52A3	Uncertain significance	-1	RCV001368200;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746116	746116	746116	-
NM_033409.4(SLC52A3):c.287C>A (p.Thr96Asn)	113278	SLC52A3	Uncertain significance	rs1986650729	RCV001227311;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746132	746132	20:g.746132G>T	-
NM_033409.4(SLC52A3):c.282T>C (p.Asn94_Met95=)	113278	SLC52A3	Likely benign	-1	RCV002603385;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746137	746137	NC_000020.10:g.746137A>G	-
NM_033409.4(SLC52A3):c.281A>G (p.Asn94Ser)	113278	SLC52A3	Uncertain significance	-1	RCV002441787\|RCV003102752;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746138	746138	746138	-
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys)	113278	SLC52A3	Uncertain significance	rs1481097414	RCV000689538;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746147	746147	20:g.746147A>C	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.269C>T (p.Ala90Val)	113278	SLC52A3	Uncertain significance	-1	RCV001882221;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746150	746150	746150	-
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu)	113278	SLC52A3	Uncertain significance	rs142064992	RCV000560391;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746169	746169	20:g.746169C>G	ClinGen:CA407964242	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile)	113278	SLC52A3	Uncertain significance	rs142064992	RCV000821766;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746169	746169	20:g.746169C>T	-
NM_033409.4(SLC52A3):c.249C>T (p.Thr83=)	113278	SLC52A3	Likely benign	-1	RCV001497581;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746170	746170	746170	-
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met)	113278	SLC52A3	Likely benign	rs546240059	RCV000653724\|RCV002442357;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746178	746178	20:g.746178C>T	ClinGen:CA9724814	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)	113278	SLC52A3	Benign	rs34376836	RCV000254378\|RCV000543583\|RCV001711836\|RCV002503949;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	746179	746179	20:g.746179G>A	ClinGen:CA9724815	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.238G>A (p.Gly80Ser)	113278	SLC52A3	Uncertain significance	-1	RCV001973556;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746181	746181	746181	-
NM_033409.4(SLC52A3):c.237G>T (p.Leu79_Gly80=)	113278	SLC52A3	Likely benign	-1	RCV002880434;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746182	746182	NC_000020.10:g.746182C>A	-
NM_033409.4(SLC52A3):c.228C>T (p.Phe76=)	113278	SLC52A3	Likely benign	rs1599959406	RCV000935592\|RCV001401089;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746191	746191	20:g.746191G>A	-
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr)	113278	SLC52A3	not provided	rs797045193	RCV000191961;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746195	746195	20:g.746195A>G	ClinGen:CA346977	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met)	113278	SLC52A3	Benign/Likely benign	rs35655964	RCV000249592\|RCV001510811\|RCV001537335;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202	20	746197	746197	20:g.746197G>C	ClinGen:CA9724816,UniProtKB:Q9NQ40#VAR_053565	CN169374 not specified;
NM_033409.4(SLC52A3):c.215T>A (p.Val72Glu)	113278	SLC52A3	Uncertain significance	rs751825591	RCV001211660;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746204	746204	20:g.746204A>T	-
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter)	113278	SLC52A3	Pathogenic	rs267606683	RCV000000163;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746208	746208	20:g.746208C>A	ClinGen:CA339792,OMIM:613350.0002	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys)	113278	SLC52A3	not provided	rs267606683	RCV000191960;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746208	746208	20:g.746208C>T	ClinGen:CA346975,UniProtKB:Q9NQ40#VAR_077426	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=)	113278	SLC52A3	Likely benign	rs1455468261	RCV002420526\|RCV002527931;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746209	746209	20:g.746209G>A	ClinGen:CA509542745	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser)	113278	SLC52A3	Uncertain significance	rs149622425	RCV000521405\|RCV000653712\|RCV002420322;	N	MedGen:CN517202\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746216	746216	20:g.746216C>G	ClinGen:CA9724818	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.197C>G (p.Pro66Arg)	113278	SLC52A3	Uncertain significance	-1	RCV002630363;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746222	746222	NC_000020.10:g.746222G>C	-
NM_033409.4(SLC52A3):c.195G>A (p.Arg65=)	113278	SLC52A3	Likely benign	-1	RCV001488853;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746224	746224	746224	-
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln)	113278	SLC52A3	Uncertain significance	rs144337813	RCV000559040\|RCV002420525\|RCV003139858;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	20	746225	746225	20:g.746225C>T	ClinGen:CA9724820	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.193C>T (p.Arg65Trp)	113278	SLC52A3	Uncertain significance	-1	RCV002024336;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746226	746226	746226	-
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=)	113278	SLC52A3	Likely benign	rs1372014420	RCV000906086;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746236	746236	20:g.746236G>A	-
NM_033409.4(SLC52A3):c.174C>G (p.Val58=)	113278	SLC52A3	Likely benign	-1	RCV001463410;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746245	746245	746245	-
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp)	113278	SLC52A3	not provided	rs797045192	RCV000191959;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746246	746246	NC_000020.10:g.746246A>T	ClinGen:CA346973,UniProtKB:Q9NQ40#VAR_077425	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg)	113278	SLC52A3	Uncertain significance	rs797045191	RCV000191958;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746259	746259	NC_000020.10:g.746259C>T	ClinGen:CA346971	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.151G>A (p.Ala51Thr)	113278	SLC52A3	Uncertain significance	-1	RCV002019275;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746268	746268	746268	-
NM_033409.4(SLC52A3):c.140T>C (p.Val47Ala)	113278	SLC52A3	Uncertain significance	rs1555784013	RCV000653713;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746279	746279	20:g.746279A>G	ClinGen:CA407964457	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=)	113278	SLC52A3	Likely benign	rs373887707	RCV000695451\|RCV002386215;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746284	746284	20:g.746284C>T	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met)	113278	SLC52A3	Uncertain significance	rs776065357	RCV000653711\|RCV002534202;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746285	746285	NC_000020.10:g.746285G>A	ClinGen:CA9724827	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.130C>T (p.Leu44Phe)	113278	SLC52A3	Uncertain significance	rs759031372	RCV001299669;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746289	746289	746289	-
NM_033409.4(SLC52A3):c.130C>A (p.Leu44Ile)	113278	SLC52A3	Uncertain significance	rs759031372	RCV001352458;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746289	746289	746289	-
NM_033409.4(SLC52A3):c.125C>T (p.Ser42Phe)	113278	SLC52A3	Uncertain significance	rs1986660402	RCV001038531;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746294	746294	20:g.746294G>A	-
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs267606686	RCV000000166\|RCV001560824\|RCV002247227;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965	20	746313	746313	20:g.746313C>T	OMIM:613350.0005,ClinGen:CA339796,UniProtKB:Q9NQ40#VAR_063694	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.105C>T (p.Pro35=)	113278	SLC52A3	Likely benign	-1	RCV002117557;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746314	746314	746314	-
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln)	113278	SLC52A3	Likely benign	rs199861879	RCV000825234\|RCV000877830\|RCV001574251\|RCV002381888;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	20	746322	746322	20:g.746322C>G	-
NM_033409.4(SLC52A3):c.95T>C (p.Met32Thr)	113278	SLC52A3	Uncertain significance	-1	RCV001887037;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746324	746324	746324	-
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu)	113278	SLC52A3	Uncertain significance	rs751913684	RCV000609830\|RCV001860345;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746325	746325	20:g.746325T>A	ClinGen:CA9724832	CN169374 not specified;
NM_033409.4(SLC52A3):c.94A>G (p.Met32Val)	113278	SLC52A3	Uncertain significance	-1	RCV002006901;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746325	746325	746325	-
NM_033409.4(SLC52A3):c.85del (p.Leu29fs)	113278	SLC52A3	Pathogenic	-1	RCV001387225;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746334	746334	746333	-
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr)	113278	SLC52A3	Pathogenic	rs267606688	RCV000000168;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746337	746337	20:g.746337G>T	ClinGen:CA339798,UniProtKB:Q9NQ40#VAR_077424,OMIM:613350.0007	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.70T>C (p.Trp24Arg)	113278	SLC52A3	Uncertain significance	-1	RCV002019595;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746349	746349	746349	-
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=)	113278	SLC52A3	Benign/Likely benign	rs574008733	RCV000825235\|RCV000872933;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746356	746356	20:g.746356A>G	-
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)	113278	SLC52A3	Conflicting interpretations of pathogenicity	rs199588390	RCV000191957\|RCV000790977\|RCV001589066\|RCV001770141\|RCV002362997;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MeSH:D030342,MedGen:C0950123	20	746357	746357	NC_000020.10:g.746357T>C	ClinGen:CA346969,UniProtKB:Q9NQ40#VAR_077423	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)	113278	SLC52A3	Uncertain significance	rs148387972	RCV001061397\|RCV001197661\|RCV002482056\|RCV002511027\|RCV002355067;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C0015	20	746361	746361	20:g.746361T>G	-
NM_033409.4(SLC52A3):c.56C>T (p.Thr19Ile)	113278	SLC52A3	Uncertain significance	-1	RCV002801504;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746363	746363	NC_000020.10:g.746363G>A	-
NM_033409.4(SLC52A3):c.54G>A (p.Val18=)	113278	SLC52A3	Likely benign	rs1418731782	RCV000935693;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746365	746365	20:g.746365C>T	-
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg)	113278	SLC52A3	Pathogenic	rs797045190	RCV000191956;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746370	746370	NC_000020.10:g.746370A>G	ClinGen:CA346967,UniProtKB:Q9NQ40#VAR_077422,OMIM:613350.0009	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.48C>G (p.Ser16=)	113278	SLC52A3	Uncertain significance	rs142206705	RCV001065380;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746371	746371	20:g.746371G>C	-
NM_033409.4(SLC52A3):c.37G>A (p.Gly13Arg)	113278	SLC52A3	Uncertain significance	rs146302587	RCV001039792;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746382	746382	20:g.746382C>T	-
NM_033409.4(SLC52A3):c.36C>T (p.Phe12_Gly13=)	113278	SLC52A3	Likely benign	-1	RCV002953232;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746383	746383	NC_000020.10:g.746383G>A	-
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile)	113278	SLC52A3	Uncertain significance	rs746808726	RCV000549502;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746388	746388	20:g.746388C>T	ClinGen:CA9724840	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.30C>T (p.Cys10=)	113278	SLC52A3	Likely benign	rs201545356	RCV000933427;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746389	746389	20:g.746389G>A	-
NM_033409.4(SLC52A3):c.25G>A (p.Val9Ile)	113278	SLC52A3	Uncertain significance	rs770505431	RCV001242763\|RCV002436954;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MeSH:D030342,MedGen:C0950123	20	746394	746394	20:g.746394C>T	-
NM_033409.4(SLC52A3):c.23T>C (p.Leu8Pro)	113278	SLC52A3	Uncertain significance	-1	RCV003053747;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746396	746396	NC_000020.10:g.746396A>G	-
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)	113278	SLC52A3	Benign/Likely benign	rs139486822	RCV000246921\|RCV000554051\|RCV001660355\|RCV002379089\|RCV002500930;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229; MONDO:MONDO:0100428,MedGen:C001570	20	746410	746410	20:g.746410G>A	ClinGen:CA9724844	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val)	113278	SLC52A3	Uncertain significance	rs1472734097	RCV000701984;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746414	746414	20:g.746414G>A	-	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;
NM_033409.4(SLC52A3):c.3G>A (p.Met1Ile)	113278	SLC52A3	Uncertain significance	-1	RCV001932045;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	746416	746416	746416	-
NM_033409.4(SLC52A3):c.-14_-6del	113278	SLC52A3	Benign	rs11467076	RCV000247507\|RCV001544412\|RCV001544411\|RCV001618473;	N	MedGen:CN169374\|MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229\|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500, Orphanet:56965\|MedGen:CN517202	20	746424	746432	20:g.746424_746432del	ClinGen:CA9724847	CN169374 not specified;
NM_033409.4(SLC52A3):c.-52+394T>C	113278	SLC52A3	Uncertain significance	rs750886042	RCV000534045;	N	MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530, Orphanet:572543, Orphanet:97229	20	748547	748547	20:g.748547A>G	ClinGen:CA310680592	CN029849 211530 Brown-Vialetto-Van Laere syndrome 1;

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