MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Spasms, Infantile (D013036)
..Starting node ..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 (OMIM:616645)
Child Nodes:
Sister Nodes:
..Convulsions, Benign Familial Infantile, 2 (C565296)
..Epileptic Encephalopathy, Early Infantile, 1 (C567924)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 (OMIM:615476)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
..Epileptic Encephalopathy, Early Infantile, 2 (C564064)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 (OMIM:615871)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 (OMIM:615905)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
..Epileptic Encephalopathy, Early Infantile, 3 (C562695) L: 00103;
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 (OMIM:616346)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 (OMIM:616366)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 (OMIM:616409)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 (OMIM:616645)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (OMIM:616647)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 (OMIM:300884)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 (OMIM:616981)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 (OMIM:617020)
..Epileptic Encephalopathy, Early Infantile, 4 (C567404)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 (OMIM:617065)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 (OMIM:617105)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 (OMIM:617106)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 (OMIM:617113)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 (OMIM:617132)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 (OMIM:617153)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 (OMIM:617162)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 (OMIM:617166)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 (OMIM:617276)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 (OMIM:617281)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 (OMIM:616457)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (OMIM:617339)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 (OMIM:617350)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 (OMIM:617389)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 (OMIM:617391)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Norrie disease (C537849)
..PEHO syndrome (C536317)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4314

Name:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34

Definition:

Alternative IDs:

ParentIDs:

MESH:D013036

TreeNumbers:

C10.228.140.490.375.760/616645 |C10.228.140.490.493.875/616645

Synonyms:

EIEE34

Slim Mappings:

Nervous system disease

Reference:

MedGen: 616645
MeSH: 616645
OMIM: 616645;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007334	Generalized tonic-clonic seizures with focal onset
3	HP:0003593	Infantile onset
4	HP:0007256	Abnormal pyramidal signs
5	HP:0002059	Cerebral atrophy
6	HP:0002188	Delayed CNS myelination
7	HP:0003781	Excessive salivation
8	HP:0001263	Global developmental delay NAMDC: Mental retardation
9	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
10	HP:0006813	Hemiclonic seizures
11	HP:0002540	Inability to walk
12	HP:0001249	Intellectual disability
13	HP:0005484	Postnatal microcephaly
14	HP:0002133	Status epilepticus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000020.11:g.(?_46021746)_(46057625_?)del	57468	SLC12A5	Pathogenic	-1	RCV001033580;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44650385	44686264	-1	-
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn)	57468	SLC12A5	Uncertain significance	868778058	RCV001837192;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44650409	44650409	44650409	-
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)	57468	SLC12A5	Uncertain significance	-1	RCV003397208;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44650520	44650520		-
NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)	57468	SLC12A5	Likely benign	-1	RCV003089762;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44657989	44657989		-
NM_020708.5(SLC12A5):c.17C>T (p.Thr6Met)	57468	SLC12A5	Uncertain significance	538727547	RCV001979406;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658000	44658000	44658000	-
NM_020708.5(SLC12A5):c.18G>A (p.Thr6=)	57468	SLC12A5	Uncertain significance	1193496783	RCV000701964;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658001	44658001	NC_000020.10:g.44658001G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu)	57468	SLC12A5	Uncertain significance	1411688611	RCV001313479;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658004	44658004	44658004	-
NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter)	57468	SLC12A5	Pathogenic	2084424489	RCV001203211;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658007	44658007	20:g.44658007C>A	-
NM_020708.5(SLC12A5):c.25G>A (p.Glu9Lys)	57468	SLC12A5	Uncertain significance	-1	RCV002861290;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658008	44658008	NC_000020.10:g.44658008G>A	-
NM_020708.5(SLC12A5):c.30C>A (p.Asp10Glu)	57468	SLC12A5	Uncertain significance	933771451	RCV001930501;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658013	44658013	44658013	-
NM_020708.5(SLC12A5):c.33C>A (p.Gly11=)	57468	SLC12A5	Likely benign	2145473814	RCV001410113;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658016	44658016	44658016	-
NM_020708.5(SLC12A5):c.36T>C (p.Asp12=)	57468	SLC12A5	Likely benign	998267168	RCV000952025;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658019	44658019	20:g.44658019T>C	-
NM_020708.5(SLC12A5):c.39G>C (p.Gly13=)	57468	SLC12A5	Likely benign	2145473827	RCV002153808;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658022	44658022	44658022	-
NM_020708.5(SLC12A5):c.42dup (p.Ala15fs)	57468	SLC12A5	Pathogenic	2084424722	RCV001207933;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658024	44658025	20:g.44658024_44658025insA	-
NM_020708.5(SLC12A5):c.42A>G (p.Gly14=)	57468	SLC12A5	Likely benign	1464795415	RCV000926820;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658025	44658025	20:g.44658025A>G	-
NM_020708.5(SLC12A5):c.50C>G (p.Pro17Arg)	57468	SLC12A5	Uncertain significance	-1	RCV002297080;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658033	44658033	44658033	-
NM_020708.5(SLC12A5):c.52G>A (p.Gly18Ser)	57468	SLC12A5	Uncertain significance	1399171674	RCV000688701;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658035	44658035	NC_000020.10:g.44658035G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.52+13C>T	57468	SLC12A5	Likely benign	1212644121	RCV002135569;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658048	44658048	44658048	-
NM_020708.5(SLC12A5):c.52+19del	57468	SLC12A5	Benign	1462751577	RCV002130615;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658050	44658050	44658049	-
NM_020708.5(SLC12A5):c.52+21_52+35del	57468	SLC12A5	Benign	141158582	RCV002185071;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658050	44658064	44658049	-
NM_020708.5(SLC12A5):c.52+15G>C	57468	SLC12A5	Likely benign	-1	RCV002975561;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44658050	44658050	NC_000020.10:g.44658050G>C	-
NM_020708.5(SLC12A5):c.53-16C>T	57468	SLC12A5	Likely benign	1195604412	RCV002173719;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663571	44663571	44663571	-
NM_020708.5(SLC12A5):c.53-9C>A	57468	SLC12A5	Likely benign	2145481592	RCV001431094;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663578	44663578	44663578	-
NM_020708.5(SLC12A5):c.53-3C>T	57468	SLC12A5	Uncertain significance	367992610	RCV000821955\|RCV002535937;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44663584	44663584	20:g.44663584C>T	-
NM_020708.5(SLC12A5):c.53-2A>G	57468	SLC12A5	Likely pathogenic	2084483775	RCV001062640;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663585	44663585	20:g.44663585A>G	-
NM_020708.5(SLC12A5):c.53-2A>C	57468	SLC12A5	Likely pathogenic	-1	RCV002881414;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663585	44663585	NC_000020.10:g.44663585A>C	-
NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr)	57468	SLC12A5	Uncertain significance	2084483871	RCV001299760;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663598	44663598	44663598	-
NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)	57468	SLC12A5	Likely benign	-1	RCV003064787;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663609	44663609		-
NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr)	57468	SLC12A5	Uncertain significance	2084484090	RCV001233898;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663620	44663620	20:g.44663620T>C	-
NM_020708.5(SLC12A5):c.93C>T (p.Ser31=)	57468	SLC12A5	Likely benign	145033801	RCV000954011;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663627	44663627	20:g.44663627C>T	-
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=)	57468	SLC12A5	Benign/Likely benign	143969641	RCV000652726\|RCV001310463;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44663630	44663630	20:g.44663630C>T	ClinGen:CA9886954	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.97G>A (p.Asp33Asn)	57468	SLC12A5	Uncertain significance	534826231	RCV001940929;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663631	44663631	44663631	-
NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn)	57468	SLC12A5	Uncertain significance	970629633	RCV001308367;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663642	44663642	44663642	-
NM_020708.5(SLC12A5):c.109G>C (p.Gly37Arg)	57468	SLC12A5	Uncertain significance	-1	RCV003053823;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663643	44663643	NC_000020.10:g.44663643G>C	-
NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter)	57468	SLC12A5	Pathogenic	1600590580	RCV000816690;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663649	44663649	20:g.44663649G>T	-
NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val)	57468	SLC12A5	Uncertain significance	376521903	RCV001221066;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663650	44663650	20:g.44663650A>T	-
NM_020708.5(SLC12A5):c.117G>A (p.Glu39=)	57468	SLC12A5	Likely benign	751664445	RCV002113962;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663651	44663651	44663651	-
NM_020708.5(SLC12A5):c.124G>T (p.Gly42Cys)	57468	SLC12A5	Uncertain significance	2145481710	RCV001881574;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663658	44663658	44663658	-
NM_020708.5(SLC12A5):c.125G>A (p.Gly42Asp)	57468	SLC12A5	Uncertain significance	1281331190	RCV001985441;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663659	44663659	44663659	-
NM_020708.5(SLC12A5):c.143T>C (p.Phe48Ser)	57468	SLC12A5	Uncertain significance	-1	RCV002283928;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663677	44663677	44663677	-
NM_020708.5(SLC12A5):c.147G>A (p.Glu49=)	57468	SLC12A5	Uncertain significance	2084484862	RCV001225442;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663681	44663681	20:g.44663681G>A	-
NM_020708.5(SLC12A5):c.147+1G>A	57468	SLC12A5	Likely pathogenic	-1	RCV002996835;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663682	44663682	NC_000020.10:g.44663682G>A	-
NM_020708.5(SLC12A5):c.147+9C>T	57468	SLC12A5	Likely benign	2145481731	RCV001491684;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663690	44663690	44663690	-
NM_020708.5(SLC12A5):c.147+18T>G	57468	SLC12A5	Uncertain significance	745748778	RCV002019195;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44663699	44663699	44663699	-
NM_020708.5(SLC12A5):c.148-16C>G	57468	SLC12A5	Uncertain significance	751494861	RCV001331127;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664027	44664027	44664027	-
NM_020708.5(SLC12A5):c.148-10C>T	57468	SLC12A5	Likely benign	-1	RCV003059529;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664033	44664033	NC_000020.10:g.44664033C>T	-
NM_020708.5(SLC12A5):c.148-8C>T	57468	SLC12A5	Likely benign	1413620669	RCV000936298;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664035	44664035	20:g.44664035C>T	-
NM_020708.5(SLC12A5):c.171G>A (p.Met57Ile)	57468	SLC12A5	Uncertain significance	-1	RCV002996259;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664066	44664066	NC_000020.10:g.44664066G>A	-
NM_020708.5(SLC12A5):c.186C>T (p.Leu62=)	57468	SLC12A5	Likely benign	746245950	RCV001462900;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664081	44664081	44664081	-
NM_020708.5(SLC12A5):c.192C>A (p.Gly64=)	57468	SLC12A5	Likely benign	771247445	RCV001427576;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664087	44664087	44664087	-
NM_020708.5(SLC12A5):c.197C>T (p.Ala66Val)	57468	SLC12A5	Uncertain significance	2145482188	RCV002000880;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664092	44664092	44664092	-
NM_020708.5(SLC12A5):c.207C>T (p.Thr69=)	57468	SLC12A5	Likely benign	2145482217	RCV001491677;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664102	44664102	44664102	-
NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val)	57468	SLC12A5	Uncertain significance	76320421	RCV001225321;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664137	44664137	20:g.44664137C>T	-
NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)	57468	SLC12A5	Likely benign	-1	RCV003034904;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664147	44664147		-
NM_020708.5(SLC12A5):c.256G>A (p.Gly86Ser)	57468	SLC12A5	Uncertain significance	-1	RCV003117274;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664151	44664151	NC_000020.10:g.44664151G>A	-
NM_020708.5(SLC12A5):c.266del (p.Lys89fs)	57468	SLC12A5	Pathogenic	2084489672	RCV001062140;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664156	44664156	20:g.44664156_44664156del	-
NM_020708.5(SLC12A5):c.272C>T (p.Pro91Leu)	57468	SLC12A5	Uncertain significance	1436913904	RCV000808822;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664167	44664167	20:g.44664167C>T	-
NM_020708.5(SLC12A5):c.273G>A (p.Pro91=)	57468	SLC12A5	Likely benign	183377866	RCV000534800;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664168	44664168	NC_000020.10:g.44664168G>A	ClinGen:CA9887000	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.275T>C (p.Val92Ala)	57468	SLC12A5	Uncertain significance	-1	RCV002885954;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664170	44664170	NC_000020.10:g.44664170T>C	-
NM_020708.5(SLC12A5):c.276G>C (p.Val92=)	57468	SLC12A5	Likely benign	141848967	RCV001478579;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664171	44664171	44664171	-
NM_020708.5(SLC12A5):c.276G>A (p.Val92=)	57468	SLC12A5	Likely benign	-1	RCV002631559;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664171	44664171		-
NM_020708.5(SLC12A5):c.279+1G>C	57468	SLC12A5	not provided	1568858867	RCV000761572;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664175	44664175	NC_000020.10:g.44664175G>C	-
NM_020708.5(SLC12A5):c.279+8C>A	57468	SLC12A5	Likely benign	2145482332	RCV002125154;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664182	44664182	44664182	-
NM_020708.5(SLC12A5):c.279+11C>T	57468	SLC12A5	Likely benign	367964567	RCV002080589;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664185	44664185	44664185	-
NM_020708.5(SLC12A5):c.279+12G>A	57468	SLC12A5	Likely benign	373707676	RCV002158047;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664186	44664186	44664186	-
NM_020708.5(SLC12A5):c.280-45C>T	57468	SLC12A5	Benign	3746515	RCV001807506\|RCV001685166;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44664371	44664371	44664371	-
NM_020708.5(SLC12A5):c.280-20G>C	57468	SLC12A5	Likely benign	2145482709	RCV002176033;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664396	44664396	44664396	-
NM_020708.5(SLC12A5):c.280-19A>T	57468	SLC12A5	Likely benign	2145482712	RCV002220834;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664397	44664397	44664397	-
NM_020708.5(SLC12A5):c.280-18T>C	57468	SLC12A5	Likely benign	953607328	RCV002071131;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664398	44664398	44664398	-
NM_020708.5(SLC12A5):c.281C>A (p.Ala94Asp)	57468	SLC12A5	Uncertain significance	2084493069	RCV001993587\|RCV002571230;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44664417	44664417	44664417	-
NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu)	57468	SLC12A5	Uncertain significance	780511606	RCV000444362\|RCV001313521\|RCV003362779;	N	MedGen:CN517202\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44664420	44664420	20:g.44664420C>T	ClinGen:CA9887030	CN517202 not provided;
NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys)	57468	SLC12A5	Uncertain significance	145700012	RCV000795981\|RCV001726331\|RCV002534591;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	20	44664422	44664422	20:g.44664422C>T	-
NM_020708.5(SLC12A5):c.286C>A (p.Arg96Ser)	57468	SLC12A5	Uncertain significance	145700012	RCV002036864;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664422	44664422	44664422	-
NM_020708.5(SLC12A5):c.287G>A (p.Arg96His)	57468	SLC12A5	Uncertain significance	756873079	RCV001060514\|RCV002252306;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|	20	44664423	44664423	20:g.44664423G>A	-
NM_020708.5(SLC12A5):c.287G>T (p.Arg96Leu)	57468	SLC12A5	Uncertain significance	756873079	RCV001220434;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664423	44664423	20:g.44664423G>T	-
NM_020708.5(SLC12A5):c.288C>T (p.Arg96=)	57468	SLC12A5	Likely benign	-1	RCV002745930;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664424	44664424		-
NM_020708.5(SLC12A5):c.289A>T (p.Met97Leu)	57468	SLC12A5	Uncertain significance	-1	RCV003016373;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664425	44664425	NC_000020.10:g.44664425A>T	-
NM_020708.5(SLC12A5):c.297C>A (p.Thr99=)	57468	SLC12A5	Likely benign	776585463	RCV001433629;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664433	44664433	44664433	-
NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile)	57468	SLC12A5	Uncertain significance	1396711146	RCV001068148;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664434	44664434	20:g.44664434T>A	-
NM_020708.5(SLC12A5):c.304G>A (p.Gly102Ser)	57468	SLC12A5	Uncertain significance	2145482789	RCV001964952;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664440	44664440	44664440	-
NM_020708.5(SLC12A5):c.306C>T (p.Gly102=)	57468	SLC12A5	Uncertain significance	907254238	RCV001325599;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664442	44664442	44664442	-
NM_020708.5(SLC12A5):c.309G>A (p.Val103=)	57468	SLC12A5	Likely benign	748333271	RCV002195766;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664445	44664445	44664445	-
NM_020708.5(SLC12A5):c.315G>A (p.Leu105=)	57468	SLC12A5	Likely benign	774143848	RCV002091892;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664451	44664451	44664451	-
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu)	57468	SLC12A5	Uncertain significance	2084493674	RCV001247731;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664453	44664453	20:g.44664453C>T	-
NM_020708.5(SLC12A5):c.318G>A (p.Pro106=)	57468	SLC12A5	Likely benign	200144342	RCV001482864;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664454	44664454	20:g.44664454G>A	-
NM_020708.5(SLC12A5):c.326A>G (p.Gln109Arg)	57468	SLC12A5	Uncertain significance	2145482810	RCV001363089;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664462	44664462	44664462	-
NM_020708.5(SLC12A5):c.336T>G (p.Phe112Leu)	57468	SLC12A5	Uncertain significance	2084493854	RCV001341434;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664472	44664472	44664472	-
NM_020708.5(SLC12A5):c.339C>T (p.Gly113=)	57468	SLC12A5	Likely benign	145327140	RCV000964751;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664475	44664475	20:g.44664475C>T	-
NM_020708.5(SLC12A5):c.340G>A (p.Val114Ile)	57468	SLC12A5	Uncertain significance	760750912	RCV000685951;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664476	44664476	20:g.44664476G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.348C>A (p.Leu116=)	57468	SLC12A5	Likely benign	1358161315	RCV001396018;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664484	44664484	44664484	-
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=)	57468	SLC12A5	Benign	3848724	RCV000549444\|RCV001683587;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44664491	44664491	NC_000020.10:g.44664491C>A	ClinGen:CA9887042	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.355C>T (p.Arg119Trp)	57468	SLC12A5	Uncertain significance	3848724	RCV001966365;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664491	44664491	44664491	-
NM_020708.5(SLC12A5):c.357G>T (p.Arg119=)	57468	SLC12A5	Benign	77659338	RCV001515782;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664493	44664493	44664493	-
NM_020708.5(SLC12A5):c.363C>G (p.Thr121=)	57468	SLC12A5	Likely benign	-1	RCV002889196;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664499	44664499		-
NM_020708.5(SLC12A5):c.369G>A (p.Val123=)	57468	SLC12A5	Likely benign	2084494146	RCV001909944;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664505	44664505	44664505	-
NM_020708.5(SLC12A5):c.372G>T (p.Val124=)	57468	SLC12A5	Likely benign	750134396	RCV001427872;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664508	44664508	20:g.44664508G>T	-
NM_020708.5(SLC12A5):c.377T>C (p.Ile126Thr)	57468	SLC12A5	Uncertain significance	758760799	RCV001223875;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664513	44664513	20:g.44664513T>C	-
NM_020708.5(SLC12A5):c.401G>A (p.Cys134Tyr)	57468	SLC12A5	Uncertain significance	377612895	RCV001051479;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664537	44664537	20:g.44664537G>A	-
NM_020708.5(SLC12A5):c.403A>G (p.Met135Val)	57468	SLC12A5	Uncertain significance	2145482911	RCV002030721;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664539	44664539	44664539	-
NM_020708.5(SLC12A5):c.411C>A (p.Phe137Leu)	57468	SLC12A5	Uncertain significance	2145482914	RCV002006992;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664547	44664547	44664547	-
NM_020708.5(SLC12A5):c.413T>G (p.Ile138Ser)	57468	SLC12A5	Uncertain significance	2145482918	RCV001987946;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664549	44664549	44664549	-
NM_020708.5(SLC12A5):c.418T>C (p.Cys140Arg)	57468	SLC12A5	Uncertain significance	2145482936	RCV002051288;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664554	44664554	44664554	-
NM_020708.5(SLC12A5):c.426+11C>A	57468	SLC12A5	Likely benign	-1	RCV003055765;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664573	44664573	NC_000020.10:g.44664573C>A	-
NM_020708.5(SLC12A5):c.426+12C>A	57468	SLC12A5	Likely benign	-1	RCV003095792;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664574	44664574	NC_000020.10:g.44664574C>A	-
NM_020708.5(SLC12A5):c.426+12C>G	57468	SLC12A5	Likely benign	-1	RCV002613571;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44664574	44664574	NC_000020.10:g.44664574C>G	-
NM_020708.5(SLC12A5):c.427-16A>T	57468	SLC12A5	Likely benign	781525443	RCV002110812;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665364	44665364	44665364	-
NM_020708.5(SLC12A5):c.427-7C>G	57468	SLC12A5	Uncertain significance	2145483872	RCV001957242;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665373	44665373	44665373	-
NM_020708.5(SLC12A5):c.427-3C>T	57468	SLC12A5	Uncertain significance	-1	RCV002588370;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665377	44665377	NC_000020.10:g.44665377C>T	-
NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met)	57468	SLC12A5	Uncertain significance	764963565	RCV001238112\|RCV003151842;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:CN517202	20	44665381	44665381	20:g.44665381C>T	-
NM_020708.5(SLC12A5):c.429G>A (p.Thr143=)	57468	SLC12A5	Likely benign	749462257	RCV001435222;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665382	44665382	44665382	-
NM_020708.5(SLC12A5):c.435C>T (p.Leu145=)	57468	SLC12A5	Likely benign	1600591942	RCV001491064;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665388	44665388	20:g.44665388C>T	-
NM_020708.5(SLC12A5):c.437C>T (p.Thr146Met)	57468	SLC12A5	Uncertain significance	2084502132	RCV002035944;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665390	44665390	44665390	-
NM_020708.5(SLC12A5):c.438G>A (p.Thr146=)	57468	SLC12A5	Likely benign	1345353699	RCV001452471;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665391	44665391	44665391	-
NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met)	57468	SLC12A5	Uncertain significance	2084502373	RCV001063101;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665417	44665417	20:g.44665417C>T	-
NM_020708.5(SLC12A5):c.465G>A (p.Thr155=)	57468	SLC12A5	Likely benign	376632862	RCV001453076;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665418	44665418	44665418	-
NM_020708.5(SLC12A5):c.470G>A (p.Gly157Asp)	57468	SLC12A5	Uncertain significance	2084502438	RCV001343659;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665423	44665423	44665423	-
NM_020708.5(SLC12A5):c.474T>A (p.Val158=)	57468	SLC12A5	Likely benign	750160565	RCV001430104;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665427	44665427	20:g.44665427T>A	-
NM_020708.5(SLC12A5):c.477G>T (p.Val159=)	57468	SLC12A5	Likely benign	-1	RCV002608639;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665430	44665430		-
NM_020708.5(SLC12A5):c.481+11G>A	57468	SLC12A5	Likely benign	191849612	RCV002208311;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665445	44665445	44665445	-
NM_020708.5(SLC12A5):c.482-19T>C	57468	SLC12A5	Benign	77623489	RCV002117811;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665875	44665875	44665875	-
NM_020708.5(SLC12A5):c.482-6C>T	57468	SLC12A5	Likely benign	-1	RCV003021027;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665888	44665888	NC_000020.10:g.44665888C>T	-
NM_020708.5(SLC12A5):c.482-5T>C	57468	SLC12A5	Benign	147042920	RCV000527829\|RCV002263812;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44665889	44665889	20:g.44665889T>C	ClinGen:CA9887098	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.519C>A (p.Gly173=)	57468	SLC12A5	Likely benign	1274799788	RCV002211614;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665931	44665931	44665931	-
NM_020708.5(SLC12A5):c.529G>C (p.Gly177Arg)	57468	SLC12A5	Uncertain significance	-1	RCV002301066;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665941	44665941	44665941	-
NM_020708.5(SLC12A5):c.531_532insT (p.Gly178fs)	57468	SLC12A5	Pathogenic	2145484584	RCV001382280;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665943	44665944	44665943	-
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=)	57468	SLC12A5	Benign	3746519	RCV000542717\|RCV001692198;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44665946	44665946	NC_000020.10:g.44665946T>C	ClinGen:CA9887103	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.537C>T (p.Ala179=)	57468	SLC12A5	Likely benign	200444155	RCV002089171;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665949	44665949	44665949	-
NM_020708.5(SLC12A5):c.553T>C (p.Tyr185His)	57468	SLC12A5	Uncertain significance	-1	RCV003022440;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665965	44665965	NC_000020.10:g.44665965T>C	-
NM_020708.5(SLC12A5):c.555C>T (p.Tyr185=)	57468	SLC12A5	Likely benign	1472803142	RCV002143714;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665967	44665967	44665967	-
NM_020708.5(SLC12A5):c.563C>A (p.Thr188Asn)	57468	SLC12A5	Uncertain significance	2145484631	RCV001359244;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665975	44665975	44665975	-
NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val)	57468	SLC12A5	not provided	1568859798	RCV000761573;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665984	44665984	NC_000020.10:g.44665984C>T	-
NM_020708.5(SLC12A5):c.575G>C (p.Gly192Ala)	57468	SLC12A5	Uncertain significance	-1	RCV002923567;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665987	44665987	NC_000020.10:g.44665987G>C	-
NM_020708.5(SLC12A5):c.587T>A (p.Ile196Asn)	57468	SLC12A5	Uncertain significance	2145484652	RCV002030240;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44665999	44665999	44665999	-
NM_020708.5(SLC12A5):c.591G>C (p.Leu197=)	57468	SLC12A5	Likely benign	558027479	RCV001424703;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44666003	44666003	20:g.44666003G>C	-
NM_020708.5(SLC12A5):c.594C>T (p.Gly198=)	57468	SLC12A5	Uncertain significance	1438984495	RCV001992423;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44666006	44666006	44666006	-
NM_020708.5(SLC12A5):c.601G>A (p.Glu201Lys)	57468	SLC12A5	Uncertain significance	868598822	RCV002005119;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44666013	44666013	44666013	-
NM_020708.5(SLC12A5):c.612+13GAG[2]	57468	SLC12A5	Likely benign	777279837	RCV001930383;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44666037	44666039	44666036	-
NM_020708.5(SLC12A5):c.612+15G>A	57468	SLC12A5	Likely benign	764677515	RCV002087843;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44666039	44666039	44666039	-
NM_020708.5(SLC12A5):c.613-18C>T	57468	SLC12A5	Likely benign	965878928	RCV002218798;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44668994	44668994	44668994	-
NM_020708.5(SLC12A5):c.613-5C>T	57468	SLC12A5	Likely benign	-1	RCV003056704;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669007	44669007	NC_000020.10:g.44669007C>T	-
NM_020708.5(SLC12A5):c.613G>A (p.Ala205Thr)	57468	SLC12A5	Uncertain significance	2084534894	RCV001235966;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669012	44669012	20:g.44669012G>A	-
NM_020708.5(SLC12A5):c.626C>T (p.Pro209Leu)	57468	SLC12A5	Likely pathogenic	-1	RCV002285092;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669025	44669025	44669025	-
NM_020708.5(SLC12A5):c.630C>T (p.Ala210=)	57468	SLC12A5	Likely benign	913680770	RCV001447901;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669029	44669029	44669029	-
NM_020708.5(SLC12A5):c.631A>G (p.Met211Val)	57468	SLC12A5	Uncertain significance	2145487863	RCV001920541;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669030	44669030	44669030	-
NM_020708.5(SLC12A5):c.645G>A (p.Lys215=)	57468	SLC12A5	Likely benign	-1	RCV002770666;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669044	44669044		-
NM_020708.5(SLC12A5):c.655G>A (p.Ala219Thr)	57468	SLC12A5	Uncertain significance	-1	RCV003007804;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669054	44669054	NC_000020.10:g.44669054G>A	-
NM_020708.5(SLC12A5):c.669A>G (p.Ala223=)	57468	SLC12A5	Likely benign	932821826	RCV002136307;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669068	44669068	44669068	-
NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys)	57468	SLC12A5	Uncertain significance	2084535559	RCV001208885;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669083	44669083	20:g.44669083C>A	-
NM_020708.5(SLC12A5):c.688A>G (p.Met230Val)	57468	SLC12A5	Uncertain significance	2145487913	RCV002015275;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669087	44669087	44669087	-
NM_020708.5(SLC12A5):c.689T>G (p.Met230Arg)	57468	SLC12A5	Uncertain significance	2084535623	RCV002026373;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669088	44669088	44669088	-
NM_020708.5(SLC12A5):c.692G>A (p.Arg231His)	57468	SLC12A5	Uncertain significance	1555863134	RCV000522855\|RCV000687568\|RCV002289714;	N	MedGen:CN517202\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44669091	44669091	20:g.44669091G>A	ClinGen:CA409189777	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.694G>A (p.Val232Ile)	57468	SLC12A5	Uncertain significance	1555863136	RCV000552492;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669093	44669093	NC_000020.10:g.44669093G>A	ClinGen:CA409189780	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.699C>T (p.Tyr233=)	57468	SLC12A5	Likely benign	200570265	RCV000950574;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669098	44669098	20:g.44669098C>T	-
NM_020708.5(SLC12A5):c.710_711del (p.Val237fs)	57468	SLC12A5	Pathogenic	1555863145	RCV000652720;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669105	44669106	20:g.44669105_44669106del	ClinGen:CA658799367	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.711G>A (p.Val237=)	57468	SLC12A5	Likely benign	750550342	RCV002105603;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669110	44669110	44669110	-
NM_020708.5(SLC12A5):c.714C>T (p.Leu238=)	57468	SLC12A5	Likely benign	-1	RCV002796492;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669113	44669113		-
NM_020708.5(SLC12A5):c.723G>A (p.Met241Ile)	57468	SLC12A5	Uncertain significance	766598411	RCV001046793;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669122	44669122	20:g.44669122G>A	-
NM_020708.5(SLC12A5):c.732G>T (p.Val244=)	57468	SLC12A5	Likely benign	2145487973	RCV002128238;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669131	44669131	44669131	-
NM_020708.5(SLC12A5):c.749A>C (p.Lys250Thr)	57468	SLC12A5	Uncertain significance	-1	RCV002801384;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669148	44669148	NC_000020.10:g.44669148A>C	-
NM_020708.5(SLC12A5):c.750G>T (p.Lys250Asn)	57468	SLC12A5	Uncertain significance	777601251	RCV001882004;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669149	44669149	44669149	-
NM_020708.5(SLC12A5):c.750G>A (p.Lys250=)	57468	SLC12A5	Uncertain significance	-1	RCV002995241;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669149	44669149		-
NM_020708.5(SLC12A5):c.756C>T (p.Val252=)	57468	SLC12A5	Likely benign	1206373570	RCV002136121;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669155	44669155	44669155	-
NM_020708.5(SLC12A5):c.762G>A (p.Lys254=)	57468	SLC12A5	Likely benign	1046062288	RCV001449513;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669161	44669161	44669161	-
NM_020708.5(SLC12A5):c.772G>A (p.Val258Ile)	57468	SLC12A5	Uncertain significance	915523015	RCV001892560;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669171	44669171	44669171	-
NM_020708.5(SLC12A5):c.772G>T (p.Val258Phe)	57468	SLC12A5	Uncertain significance	-1	RCV003047927;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669171	44669171	NC_000020.10:g.44669171G>T	-
NM_020708.5(SLC12A5):c.802C>T (p.Leu268=)	57468	SLC12A5	Likely benign	-1	RCV003040769;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669201	44669201		-
NM_020708.5(SLC12A5):c.808A>G (p.Ile270Val)	57468	SLC12A5	Likely benign	753714930	RCV001035271;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669207	44669207	20:g.44669207A>G	-
NM_020708.5(SLC12A5):c.834C>T (p.Ala278=)	57468	SLC12A5	Likely benign	138250479	RCV001413130;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669233	44669233	20:g.44669233C>T	-
NM_020708.5(SLC12A5):c.837C>T (p.Phe279=)	57468	SLC12A5	Uncertain significance	-1	RCV002642893;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669236	44669236		-
NM_020708.5(SLC12A5):c.848A>G (p.Asn283Ser)	57468	SLC12A5	Uncertain significance	-1	RCV002642687;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669247	44669247	NC_000020.10:g.44669247A>G	-
NM_020708.5(SLC12A5):c.851T>G (p.Phe284Cys)	57468	SLC12A5	Uncertain significance	1213597825	RCV000530913;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669250	44669250	20:g.44669250T>G	ClinGen:CA409190132	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.854+1G>A	57468	SLC12A5	Likely pathogenic	-1	RCV002962619;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669254	44669254	NC_000020.10:g.44669254G>A	-
NM_020708.5(SLC12A5):c.855-66G>A	57468	SLC12A5	Uncertain significance	-1	RCV003136719;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669902	44669902	NC_000020.10:g.44669902G>A	-
NM_020708.5(SLC12A5):c.855-19C>T	57468	SLC12A5	Likely benign	372069124	RCV002106788;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669949	44669949	44669949	-
NM_020708.5(SLC12A5):c.855-9T>A	57468	SLC12A5	Likely benign	2145488945	RCV001916912;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669959	44669959	44669959	-
NM_020708.5(SLC12A5):c.855-6C>T	57468	SLC12A5	Likely benign	774297761	RCV001498106;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669962	44669962	44669962	-
NM_020708.5(SLC12A5):c.861C>T (p.Cys287=)	57468	SLC12A5	Likely benign	375155469	RCV001425968;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669974	44669974	44669974	-
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His)	57468	SLC12A5	Pathogenic	863225306	RCV000202151;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669976	44669976	NC_000020.10:g.44669976T>A	ClinGen:CA279757,UniProtKB:Q9H2X9#VAR_075078,OMIM:606726.0003
NM_020708.5(SLC12A5):c.865C>T (p.Leu289=)	57468	SLC12A5	Likely benign	2145488960	RCV002166720;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669978	44669978	44669978	-
NM_020708.5(SLC12A5):c.866T>G (p.Leu289Arg)	57468	SLC12A5	Uncertain significance	1600595445	RCV000796461;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669979	44669979	20:g.44669979T>G	-
NM_020708.5(SLC12A5):c.879G>A (p.Thr293=)	57468	SLC12A5	Likely benign	138406290	RCV000895317;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44669992	44669992	20:g.44669992G>A	-
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)	57468	SLC12A5	Conflicting interpretations of pathogenicity	114371269	RCV000793067;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670000	44670000	20:g.44670000G>A	-
NM_020708.5(SLC12A5):c.893G>T (p.Gly298Val)	57468	SLC12A5	Uncertain significance	1317503439	RCV001302972;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670006	44670006	44670006	-
NM_020708.5(SLC12A5):c.900T>C (p.Asp300=)	57468	SLC12A5	Likely benign	765877175	RCV000935245;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670013	44670013	20:g.44670013T>C	-
NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu)	57468	SLC12A5	Uncertain significance	765877175	RCV001054248;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670013	44670013	20:g.44670013T>G	-
NM_020708.5(SLC12A5):c.903C>T (p.Val301=)	57468	SLC12A5	Likely benign	2145489026	RCV001474784;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670016	44670016	44670016	-
NM_020708.5(SLC12A5):c.908C>G (p.Ala303Gly)	57468	SLC12A5	Uncertain significance	751140061	RCV001924387;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670021	44670021	44670021	-
NM_020708.5(SLC12A5):c.916G>A (p.Ala306Thr)	57468	SLC12A5	Uncertain significance	2084545554	RCV001910380\|RCV003234138;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44670029	44670029	44670029	-
NM_020708.5(SLC12A5):c.927A>G (p.Gly309=)	57468	SLC12A5	Likely benign	528584481	RCV001488407;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670040	44670040	44670040	-
NM_020708.5(SLC12A5):c.936G>A (p.Thr312=)	57468	SLC12A5	Likely benign	150595305	RCV000963393\|RCV001200150;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44670049	44670049	20:g.44670049G>A	-
NM_020708.5(SLC12A5):c.937G>A (p.Val313Met)	57468	SLC12A5	Uncertain significance	138569099	RCV000813678;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670050	44670050	20:g.44670050G>A	-
NM_020708.5(SLC12A5):c.937G>T (p.Val313Leu)	57468	SLC12A5	Uncertain significance	138569099	RCV000821723;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670050	44670050	20:g.44670050G>T	-
NM_020708.5(SLC12A5):c.939G>C (p.Val313=)	57468	SLC12A5	Likely benign	149300952	RCV001409519;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670052	44670052	20:g.44670052G>C	-
NM_020708.5(SLC12A5):c.939G>A (p.Val313=)	57468	SLC12A5	Likely benign	149300952	RCV001500159;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670052	44670052	20:g.44670052G>A	-
NM_020708.5(SLC12A5):c.941C>T (p.Thr314Ile)	57468	SLC12A5	Uncertain significance	-1	RCV002996587;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670054	44670054	NC_000020.10:g.44670054C>T	-
NM_020708.5(SLC12A5):c.942C>T (p.Thr314=)	57468	SLC12A5	Likely benign	143072268	RCV000541218\|RCV001085433;	N	MedGen:C3661900\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670055	44670055	NC_000020.10:g.44670055C>T	ClinGen:CA9887186	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.944C>T (p.Thr315Ile)	57468	SLC12A5	Uncertain significance	2145489127	RCV002000288;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670057	44670057	44670057	-
NM_020708.5(SLC12A5):c.946C>A (p.Arg316=)	57468	SLC12A5	Likely benign	373725781	RCV000896207;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670059	44670059	20:g.44670059C>A	-
NM_020708.5(SLC12A5):c.947G>A (p.Arg316Gln)	57468	SLC12A5	Uncertain significance	144471748	RCV000700519;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670060	44670060	NC_000020.10:g.44670060G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.949C>T (p.Leu317=)	57468	SLC12A5	Likely benign	775678070	RCV000652737;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670062	44670062	20:g.44670062C>T	ClinGen:CA510645866	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser)	57468	SLC12A5	not provided	1259210706	RCV000761574;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670066	44670066	NC_000020.10:g.44670066G>C	-
NM_020708.5(SLC12A5):c.955G>A (p.Gly319Ser)	57468	SLC12A5	Uncertain significance	765018314	RCV001948341;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670068	44670068	44670068	-
NM_020708.5(SLC12A5):c.958C>T (p.Leu320Phe)	57468	SLC12A5	Uncertain significance	916790849	RCV001035898;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670071	44670071	20:g.44670071C>T	-
NM_020708.5(SLC12A5):c.962del (p.Phe321fs)	57468	SLC12A5	Pathogenic	-1	RCV002908357;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670072	44670072	NC_000020.10:g.44670075del	-
NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu)	57468	SLC12A5	Uncertain significance	1600595577	RCV000850602;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44670074	44670074	20:g.44670074T>C	-
NM_020708.5(SLC12A5):c.966C>A (p.Cys322Ter)	57468	SLC12A5	Pathogenic	-1	RCV003022865;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670079	44670079	NC_000020.10:g.44670079C>A	-
NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro)	57468	SLC12A5	not provided	1220094830	RCV000761575;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670080	44670080	NC_000020.10:g.44670080T>C	-
NM_020708.5(SLC12A5):c.969C>T (p.Ser323=)	57468	SLC12A5	Likely benign	1186052510	RCV001484977;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670082	44670082	44670082	-
NM_020708.5(SLC12A5):c.974G>A (p.Arg325His)	57468	SLC12A5	Uncertain significance	751583991	RCV001218331;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670087	44670087	20:g.44670087G>A	-
NM_020708.5(SLC12A5):c.980dup (p.Asn328fs)	57468	SLC12A5	Pathogenic	1555863593	RCV000556073;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670092	44670093	NC_000020.10:g.44670093dup	ClinGen:CA658658871	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.981C>G (p.Leu327=)	57468	SLC12A5	Likely benign	1246713640	RCV001399943;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670094	44670094	44670094	-
NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser)	57468	SLC12A5	Uncertain significance	2084546554	RCV001768716\|RCV002540254;	N	MedGen:C3661900\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670096	44670096	44670096	-
NM_020708.5(SLC12A5):c.984C>T (p.Asn328=)	57468	SLC12A5	Likely benign	754526924	RCV000922564;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670097	44670097	20:g.44670097C>T	-
NM_020708.5(SLC12A5):c.985G>A (p.Ala329Thr)	57468	SLC12A5	Uncertain significance	767192319	RCV001876978;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670098	44670098	44670098	-
NM_020708.5(SLC12A5):c.995A>G (p.Asp332Gly)	57468	SLC12A5	Uncertain significance	-1	RCV002760790;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670108	44670108	NC_000020.10:g.44670108A>G	-
NM_020708.5(SLC12A5):c.1005C>T (p.Phe335=)	57468	SLC12A5	Likely benign	755725158	RCV001401255;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670118	44670118	44670118	-
NM_020708.5(SLC12A5):c.1007C>G (p.Thr336Ser)	57468	SLC12A5	Uncertain significance	-1	RCV002670805;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670120	44670120	NC_000020.10:g.44670120C>G	-
NM_020708.5(SLC12A5):c.1008C>T (p.Thr336=)	57468	SLC12A5	Likely benign	367965141	RCV001498427;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670121	44670121	44670121	-
NM_020708.5(SLC12A5):c.1011A>G (p.Arg337=)	57468	SLC12A5	Likely benign	-1	RCV002715180;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670124	44670124		-
NM_020708.5(SLC12A5):c.1020C>T (p.Val340=)	57468	SLC12A5	Likely benign	775553439	RCV001495390;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670133	44670133	20:g.44670133C>T	-
NM_020708.5(SLC12A5):c.1023A>G (p.Thr341=)	57468	SLC12A5	Likely benign	1224748748	RCV002119479;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670136	44670136	44670136	-
NM_020708.5(SLC12A5):c.1024G>A (p.Glu342Lys)	57468	SLC12A5	Uncertain significance	2084547129	RCV001348373;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670137	44670137	44670137	-
NM_020708.5(SLC12A5):c.1033G>A (p.Gly345Ser)	57468	SLC12A5	Uncertain significance	909559043	RCV001324761;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670146	44670146	44670146	-
NM_020708.5(SLC12A5):c.1035C>T (p.Gly345=)	57468	SLC12A5	Uncertain significance	747195101	RCV001928348;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670148	44670148	44670148	-
NM_020708.5(SLC12A5):c.1050C>A (p.Ala350=)	57468	SLC12A5	Likely benign	1568861790	RCV001490320;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670163	44670163	44670163	-
NM_020708.5(SLC12A5):c.1056C>T (p.Gly352=)	57468	SLC12A5	Likely benign	768786111	RCV001438849;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670169	44670169	44670169	-
NM_020708.5(SLC12A5):c.1060A>G (p.Ile354Val)	57468	SLC12A5	Uncertain significance	961067707	RCV000703702;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670173	44670173	20:g.44670173A>G	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1066+5G>T	57468	SLC12A5	Uncertain significance	-1	RCV002721687;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670184	44670184	NC_000020.10:g.44670184G>T	-
NM_020708.5(SLC12A5):c.1066+6C>T	57468	SLC12A5	Uncertain significance	-1	RCV002579326;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670185	44670185	NC_000020.10:g.44670185C>T	-
NM_020708.5(SLC12A5):c.1066+7G>A	57468	SLC12A5	Likely benign	-1	RCV002629000;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670186	44670186	NC_000020.10:g.44670186G>A	-
NM_020708.5(SLC12A5):c.1066+14C>T	57468	SLC12A5	Likely benign	1324741256	RCV001949355;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44670193	44670193	44670193	-
NM_020708.5(SLC12A5):c.1067-20A>C	57468	SLC12A5	Likely benign	2145491341	RCV002186230;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671772	44671772	44671772	-
NM_020708.5(SLC12A5):c.1067-18C>T	57468	SLC12A5	Likely benign	-1	RCV002726865;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671774	44671774	NC_000020.10:g.44671774C>T	-
NM_020708.5(SLC12A5):c.1067-14_1067-13del	57468	SLC12A5	Likely benign	1191018482	RCV002146461;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671777	44671778	44671776	-
NM_020708.5(SLC12A5):c.1067-12G>T	57468	SLC12A5	Likely benign	-1	RCV002919173;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671780	44671780	NC_000020.10:g.44671780G>T	-
NM_020708.5(SLC12A5):c.1067-4A>G	57468	SLC12A5	Likely benign	-1	RCV002846968;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671788	44671788	NC_000020.10:g.44671788A>G	-
NM_020708.5(SLC12A5):c.1072C>G (p.Leu358Val)	57468	SLC12A5	Uncertain significance	200514600	RCV001244277\|RCV002252342;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|	20	44671797	44671797	20:g.44671797C>G	-
NM_020708.5(SLC12A5):c.1074C>T (p.Leu358=)	57468	SLC12A5	Likely benign	-1	RCV002927354;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671799	44671799		-
NM_020708.5(SLC12A5):c.1084T>A (p.Tyr362Asn)	57468	SLC12A5	Uncertain significance	-1	RCV002295257;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671809	44671809	44671809	-
NM_020708.5(SLC12A5):c.1089G>T (p.Leu363=)	57468	SLC12A5	Likely benign	-1	RCV003035111;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671814	44671814		-
NM_020708.5(SLC12A5):c.1093A>G (p.Lys365Glu)	57468	SLC12A5	Uncertain significance	1747278164	RCV001317289;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671818	44671818	44671818	-
NM_020708.5(SLC12A5):c.1098C>T (p.Gly366=)	57468	SLC12A5	Uncertain significance	770170831	RCV000706816;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671823	44671823	NC_000020.10:g.44671823C>T	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1098C>G (p.Gly366=)	57468	SLC12A5	Likely benign	770170831	RCV001475513;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671823	44671823	20:g.44671823C>G	-
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met)	57468	SLC12A5	Uncertain significance	778801242	RCV000652721\|RCV001836858\|RCV002530551;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MeSH:D030342,MedGen:C0950123	20	44671824	44671824	NC_000020.10:g.44671824G>A	ClinGen:CA9887250	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1101G>T (p.Val367=)	57468	SLC12A5	Likely benign	745635839	RCV001451227;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671826	44671826	44671826	-
NM_020708.5(SLC12A5):c.1112G>A (p.Arg371Lys)	57468	SLC12A5	Uncertain significance	2145491395	RCV001888465;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671837	44671837	44671837	-
NM_020708.5(SLC12A5):c.1119G>A (p.Gly373=)	57468	SLC12A5	Likely benign	986597650	RCV002176812;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671844	44671844	44671844	-
NM_020708.5(SLC12A5):c.1124C>T (p.Thr375Ile)	57468	SLC12A5	Uncertain significance	772033105	RCV001957645;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671849	44671849	44671849	-
NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu)	57468	SLC12A5	not provided	1568862550	RCV000761576;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671852	44671852	NC_000020.10:g.44671852C>T	-
NM_020708.5(SLC12A5):c.1128G>A (p.Ser376=)	57468	SLC12A5	Likely benign	6073997	RCV000934487;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671853	44671853	20:g.44671853G>A	-
NM_020708.5(SLC12A5):c.1132G>A (p.Gly378Ser)	57468	SLC12A5	Uncertain significance	2080922672	RCV001349311;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671857	44671857	44671857	-
NM_020708.5(SLC12A5):c.1140C>T (p.Ala380=)	57468	SLC12A5	Likely benign	767985242	RCV001469303;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671865	44671865	44671865	-
NM_020708.5(SLC12A5):c.1144G>A (p.Gly382Ser)	57468	SLC12A5	Uncertain significance	1450320682	RCV001984228;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671869	44671869	44671869	-
NM_020708.5(SLC12A5):c.1145G>A (p.Gly382Asp)	57468	SLC12A5	Uncertain significance	-1	RCV003016310;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671870	44671870	NC_000020.10:g.44671870G>A	-
NM_020708.5(SLC12A5):c.1148C>T (p.Thr383Ile)	57468	SLC12A5	Likely benign	201727005	RCV000796309\|RCV001252773;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MON	20	44671873	44671873	20:g.44671873C>T	-
NM_020708.5(SLC12A5):c.1148C>A (p.Thr383Asn)	57468	SLC12A5	Uncertain significance	201727005	RCV001886745;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671873	44671873	44671873	-
NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala)	57468	SLC12A5	Benign	16985442	RCV000525792;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671875	44671875	NC_000020.10:g.44671875C>G	ClinGen:CA9887259	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=)	57468	SLC12A5	Benign	35804246	RCV000540652\|RCV001672868;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44671880	44671880	20:g.44671880C>T	ClinGen:CA9887260	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1156G>A (p.Asp386Asn)	57468	SLC12A5	Uncertain significance	200798560	RCV000691474;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671881	44671881	NC_000020.10:g.44671881G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1159A>G (p.Met387Val)	57468	SLC12A5	Uncertain significance	-1	RCV002775133;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671884	44671884	NC_000020.10:g.44671884A>G	-
NM_020708.5(SLC12A5):c.1161G>A (p.Met387Ile)	57468	SLC12A5	Uncertain significance	771205120	RCV001372509;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671886	44671886	44671886	-
NM_020708.5(SLC12A5):c.1168C>G (p.Pro390Ala)	57468	SLC12A5	Uncertain significance	-1	RCV002730243;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671893	44671893	NC_000020.10:g.44671893C>G	-
NM_020708.5(SLC12A5):c.1174G>A (p.Val392Ile)	57468	SLC12A5	Uncertain significance	2145491521	RCV002033664;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671899	44671899	44671899	-
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser)	57468	SLC12A5	Benign/Likely benign	34058554	RCV000514761\|RCV001086805;	N	MedGen:C3661900\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671914	44671914	20:g.44671914A>T	ClinGen:CA9887262	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1194C>T (p.Ser398=)	57468	SLC12A5	Likely benign	-1	RCV003046023;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671919	44671919		-
NM_020708.5(SLC12A5):c.1196A>G (p.Tyr399Cys)	57468	SLC12A5	Uncertain significance	-1	RCV003039203;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671921	44671921	NC_000020.10:g.44671921A>G	-
NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=)	57468	SLC12A5	Likely benign	1357953426	RCV000652735;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671928	44671928	NC_000020.10:g.44671928C>T	ClinGen:CA510648124	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)	57468	SLC12A5	Pathogenic	863225304	RCV000202258;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671933	44671933	NC_000020.10:g.44671933T>C	ClinGen:CA279804,UniProtKB:Q9H2X9#VAR_075079,OMIM:606726.0001
NM_020708.5(SLC12A5):c.1237+6G>A	57468	SLC12A5	Uncertain significance	200873569	RCV001056231;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671968	44671968	20:g.44671968G>A	-
NM_020708.5(SLC12A5):c.1237+17A>G	57468	SLC12A5	Likely benign	778108662	RCV002091066;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44671979	44671979	44671979	-
NM_020708.5(SLC12A5):c.1238-10T>C	57468	SLC12A5	Likely benign	-1	RCV002770493;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672262	44672262	NC_000020.10:g.44672262T>C	-
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val)	57468	SLC12A5	Uncertain significance	368484023	RCV000761577;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672277	44672277	NC_000020.10:g.44672277A>G	-
NM_020708.5(SLC12A5):c.1259G>A (p.Arg420His)	57468	SLC12A5	Uncertain significance	757586510	RCV001893766;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672293	44672293	44672293	-
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs)	57468	SLC12A5	Pathogenic	-1	RCV002919071;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672321	44672321	NC_000020.10:g.44672321del	-
NM_020708.5(SLC12A5):c.1291A>G (p.Ile431Val)	57468	SLC12A5	Uncertain significance	-1	RCV003032088;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672325	44672325	NC_000020.10:g.44672325A>G	-
NM_020708.5(SLC12A5):c.1301G>A (p.Gly434Asp)	57468	SLC12A5	Uncertain significance	2084568578	RCV001298172;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672335	44672335	44672335	-
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val)	57468	SLC12A5	Uncertain significance	140326431	RCV000652719\|RCV000764243\|RCV001815365\|RCV003411548;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MedGen:C3661900\|	20	44672340	44672340	20:g.44672340A>G	ClinGen:CA9887290	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=)	57468	SLC12A5	Likely benign	1366527252	RCV000890288;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672342	44672342	20:g.44672342C>T	-
NM_020708.5(SLC12A5):c.1317C>T (p.Ile439=)	57468	SLC12A5	Likely benign	10460627	RCV000945583;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672351	44672351	20:g.44672351C>T	-
NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr)	57468	SLC12A5	Uncertain significance	769231047	RCV001214673;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672352	44672352	20:g.44672352G>A	-
NM_020708.5(SLC12A5):c.1333G>A (p.Val445Ile)	57468	SLC12A5	Uncertain significance	1600597599	RCV000797924;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672367	44672367	20:g.44672367G>A	-
NM_020708.5(SLC12A5):c.1334T>C (p.Val445Ala)	57468	SLC12A5	Uncertain significance	2145492118	RCV001903345;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672368	44672368	44672368	-
NM_020708.5(SLC12A5):c.1336+18G>A	57468	SLC12A5	Likely benign	-1	RCV002628803;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672388	44672388	NC_000020.10:g.44672388G>A	-
NM_020708.5(SLC12A5):c.1337-9C>T	57468	SLC12A5	Likely benign	-1	RCV003033896;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672506	44672506	NC_000020.10:g.44672506C>T	-
NM_020708.5(SLC12A5):c.1337-8T>C	57468	SLC12A5	Likely benign	374330170	RCV001408211;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672507	44672507	44672507	-
NM_020708.5(SLC12A5):c.1348G>A (p.Val450Ile)	57468	SLC12A5	Uncertain significance	745565201	RCV000855452\|RCV003117570;	N	MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672526	44672526	20:g.44672526G>A	-
NM_020708.5(SLC12A5):c.1363G>A (p.Ala455Thr)	57468	SLC12A5	Uncertain significance	-1	RCV002952451;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672541	44672541	NC_000020.10:g.44672541G>A	-
NM_020708.5(SLC12A5):c.1369A>G (p.Ile457Val)	57468	SLC12A5	Uncertain significance	772414812	RCV001338471;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672547	44672547	44672547	-
NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=)	57468	SLC12A5	Likely benign	145624716	RCV001036253;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672552	44672552	20:g.44672552G>A	-
NM_020708.5(SLC12A5):c.1374G>C (p.Glu458Asp)	57468	SLC12A5	Uncertain significance	-1	RCV003121141;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672552	44672552	NC_000020.10:g.44672552G>C	-
NM_020708.5(SLC12A5):c.1380C>T (p.Val460=)	57468	SLC12A5	Likely benign	2084571064	RCV001455703;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672558	44672558	44672558	-
NM_020708.5(SLC12A5):c.1381G>A (p.Val461Ile)	57468	SLC12A5	Uncertain significance	201487205	RCV000699126\|RCV002223240;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44672559	44672559	20:g.44672559G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1386G>A (p.Leu462=)	57468	SLC12A5	Likely benign	-1	RCV003049496;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672564	44672564		-
NM_020708.5(SLC12A5):c.1387C>T (p.Arg463Trp)	57468	SLC12A5	Uncertain significance	769265263	RCV001321259;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672565	44672565	44672565	-
NM_020708.5(SLC12A5):c.1387C>G (p.Arg463Gly)	57468	SLC12A5	Uncertain significance	-1	RCV002832940;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672565	44672565	NC_000020.10:g.44672565C>G	-
NM_020708.5(SLC12A5):c.1394+16T>G	57468	SLC12A5	Likely benign	-1	RCV002609755;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44672588	44672588	NC_000020.10:g.44672588T>G	-
NM_020708.5(SLC12A5):c.1395-12A>T	57468	SLC12A5	Likely benign	-1	RCV002734888;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673593	44673593	NC_000020.10:g.44673593A>T	-
NM_020708.5(SLC12A5):c.1395-3C>T	57468	SLC12A5	Uncertain significance	760459724	RCV000793785;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673602	44673602	20:g.44673602C>T	-
NM_020708.5(SLC12A5):c.1401C>T (p.Gly467=)	57468	SLC12A5	Likely benign	545847050	RCV001317665;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673611	44673611	44673611	-
NM_020708.5(SLC12A5):c.1402G>A (p.Glu468Lys)	57468	SLC12A5	Uncertain significance	564134718	RCV001967514;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673612	44673612	44673612	-
NM_020708.5(SLC12A5):c.1416C>T (p.Gly472=)	57468	SLC12A5	Likely benign	755729176	RCV001234229;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673626	44673626	20:g.44673626C>T	-
NM_020708.5(SLC12A5):c.1422C>T (p.Leu474=)	57468	SLC12A5	Likely benign	371872977	RCV000529951;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673632	44673632	20:g.44673632C>T	ClinGen:CA9887350	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1423G>A (p.Val475Met)	57468	SLC12A5	Uncertain significance	1304092442	RCV002037377;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673633	44673633	44673633	-
NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=)	57468	SLC12A5	Benign	538711126	RCV000652728;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673641	44673641	20:g.44673641C>T	ClinGen:CA9887352	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1435C>T (p.Leu479=)	57468	SLC12A5	Likely benign	-1	RCV002856726;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673645	44673645		-
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro)	57468	SLC12A5	Uncertain significance	2084581427	RCV001063756\|RCV003331039;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:CN169374	20	44673657	44673657	20:g.44673657T>C	-
NM_020708.5(SLC12A5):c.1465A>T (p.Ile489Phe)	57468	SLC12A5	Uncertain significance	2084581563	RCV001315358;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673675	44673675	44673675	-
NM_020708.5(SLC12A5):c.1485C>T (p.Thr495=)	57468	SLC12A5	Likely benign	748652503	RCV000983607;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673695	44673695	20:g.44673695C>T	-
NM_020708.5(SLC12A5):c.1492dup (p.Ala498fs)	57468	SLC12A5	Pathogenic	2145493702	RCV001383648;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673698	44673699	44673698	-
NM_020708.5(SLC12A5):c.1500G>A (p.Leu500=)	57468	SLC12A5	Likely benign	2145493717	RCV002165324;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673710	44673710	44673710	-
NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=)	57468	SLC12A5	Benign	41282782	RCV000540256;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673722	44673722	NC_000020.10:g.44673722G>A	ClinGen:CA9887358	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His)	57468	SLC12A5	Uncertain significance	2084582477	RCV001201739;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673733	44673733	20:g.44673733G>A	-
NM_020708.5(SLC12A5):c.1530G>C (p.Leu510=)	57468	SLC12A5	Likely benign	1600598728	RCV001475118;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673740	44673740	20:g.44673740G>C	-
NM_020708.5(SLC12A5):c.1536C>G (p.Ala512=)	57468	SLC12A5	Likely benign	2145493756	RCV002164645;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673746	44673746	44673746	-
NM_020708.5(SLC12A5):c.1542G>A (p.Ser514=)	57468	SLC12A5	Likely benign	771067022	RCV001404141;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673752	44673752	44673752	-
NM_020708.5(SLC12A5):c.1558C>T (p.Pro520Ser)	57468	SLC12A5	Uncertain significance	113818080	RCV001320033;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673768	44673768	44673768	-
NM_020708.5(SLC12A5):c.1564C>T (p.Leu522=)	57468	SLC12A5	Likely benign	1600598775	RCV002097928;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673774	44673774	44673774	-
NM_020708.5(SLC12A5):c.1566G>A (p.Leu522=)	57468	SLC12A5	Likely benign	759768562	RCV001472906;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673776	44673776	44673776	-
NM_020708.5(SLC12A5):c.1569+9G>A	57468	SLC12A5	Likely benign	1331325326	RCV002186608;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673788	44673788	44673788	-
NM_020708.5(SLC12A5):c.1569+13G>A	57468	SLC12A5	Benign	75931039	RCV002124703;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673792	44673792	44673792	-
NM_020708.5(SLC12A5):c.1569+15A>G	57468	SLC12A5	Likely benign	-1	RCV002877371;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673794	44673794	NC_000020.10:g.44673794A>G	-
NM_020708.5(SLC12A5):c.1569+19C>G	57468	SLC12A5	Likely benign	-1	RCV002765991;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44673798	44673798	NC_000020.10:g.44673798C>G	-
NC_000020.11:g.(?_46045858)_(46046456_?)del	57468	SLC12A5	Pathogenic	-1	RCV001033927;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674497	44675095	-1	-
NM_020708.5(SLC12A5):c.1570-11T>C	57468	SLC12A5	Likely benign	1276719019	RCV002206173;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674506	44674506	44674506	-
NM_020708.5(SLC12A5):c.1570-6C>T	57468	SLC12A5	Likely benign	2084590595	RCV001235011;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674511	44674511	20:g.44674511C>T	-
NM_020708.5(SLC12A5):c.1570-3C>G	57468	SLC12A5	Uncertain significance	1371403151	RCV001211104;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674514	44674514	20:g.44674514C>G	-
NM_020708.5(SLC12A5):c.1581T>C (p.His527=)	57468	SLC12A5	Likely benign	923053406	RCV001457836;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674528	44674528	44674528	-
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)	57468	SLC12A5	Likely pathogenic	863225305	RCV000202007;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674530	44674530	NC_000020.10:g.44674530G>A	ClinGen:CA279674,UniProtKB:Q9H2X9#VAR_075080,OMIM:606726.0002
NM_020708.5(SLC12A5):c.1590C>T (p.Ala530=)	57468	SLC12A5	Likely benign	2084590822	RCV001484832;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674537	44674537	44674537	-
NM_020708.5(SLC12A5):c.1596A>G (p.Gly532=)	57468	SLC12A5	Likely benign	2145494688	RCV001455759;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674543	44674543	44674543	-
NM_020708.5(SLC12A5):c.1600C>G (p.Pro534Ala)	57468	SLC12A5	Uncertain significance	-1	RCV002839556;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674547	44674547	NC_000020.10:g.44674547C>G	-
NM_020708.5(SLC12A5):c.1602G>A (p.Pro534=)	57468	SLC12A5	Likely benign	761507003	RCV002190716;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674549	44674549	44674549	-
NM_020708.5(SLC12A5):c.1613T>C (p.Leu538Pro)	57468	SLC12A5	Uncertain significance	1555865050	RCV000555126;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674560	44674560	NC_000020.10:g.44674560T>C	ClinGen:CA409196079	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1619T>C (p.Leu540Pro)	57468	SLC12A5	Uncertain significance	149824011	RCV001344546;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674566	44674566	44674566	-
NM_020708.5(SLC12A5):c.1621A>C (p.Thr541Pro)	57468	SLC12A5	Uncertain significance	-1	RCV003012365;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674568	44674568	NC_000020.10:g.44674568A>C	-
NM_020708.5(SLC12A5):c.1636G>C (p.Glu546Gln)	57468	SLC12A5	Uncertain significance	1364136088	RCV002026979;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674583	44674583	44674583	-
NM_020708.5(SLC12A5):c.1658C>T (p.Ser553Phe)	57468	SLC12A5	Uncertain significance	2145494762	RCV001900261;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674605	44674605	44674605	-
NM_020708.5(SLC12A5):c.1662C>T (p.Leu554=)	57468	SLC12A5	Likely benign	570128689	RCV002200536;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674609	44674609	44674609	-
NM_020708.5(SLC12A5):c.1665C>T (p.Asp555=)	57468	SLC12A5	Likely benign	377347592	RCV000936841;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674612	44674612	20:g.44674612C>T	-
NM_020708.5(SLC12A5):c.1667A>G (p.Glu556Gly)	57468	SLC12A5	Uncertain significance	-1	RCV002814601;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674614	44674614	NC_000020.10:g.44674614A>G	-
NM_020708.5(SLC12A5):c.1676C>G (p.Pro559Arg)	57468	SLC12A5	Uncertain significance	-1	RCV002819281;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674623	44674623	NC_000020.10:g.44674623C>G	-
NM_020708.5(SLC12A5):c.1680C>T (p.Ile560=)	57468	SLC12A5	Likely benign	752463505	RCV000652731;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674627	44674627	20:g.44674627C>T	ClinGen:CA9887390	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1688T>C (p.Met563Thr)	57468	SLC12A5	Uncertain significance	-1	RCV002994917;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674635	44674635	NC_000020.10:g.44674635T>C	-
NM_020708.5(SLC12A5):c.1688+7G>A	57468	SLC12A5	Likely benign	192325760	RCV001403723;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674642	44674642	44674642	-
NM_020708.5(SLC12A5):c.1689-17G>A	57468	SLC12A5	Likely benign	750984148	RCV002216412;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674960	44674960	44674960	-
NM_020708.5(SLC12A5):c.1689-16C>T	57468	SLC12A5	Likely benign	-1	RCV002639214;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674961	44674961	NC_000020.10:g.44674961C>T	-
NM_020708.5(SLC12A5):c.1689-9G>A	57468	SLC12A5	Likely benign	-1	RCV002858600;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674968	44674968	NC_000020.10:g.44674968G>A	-
NM_020708.5(SLC12A5):c.1689-7G>A	57468	SLC12A5	Conflicting interpretations of pathogenicity	2084595386	RCV001197707;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674970	44674970	20:g.44674970G>A	-
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=)	57468	SLC12A5	Benign/Likely benign	41282784	RCV000652730\|RCV001310464;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44674983	44674983	20:g.44674983C>T	ClinGen:CA9887416	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1702T>C (p.Cys568Arg)	57468	SLC12A5	Uncertain significance	2145495282	RCV001939185;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44674990	44674990	44674990	-
NM_020708.5(SLC12A5):c.1725C>T (p.Ala575=)	57468	SLC12A5	Likely benign	780184051	RCV002190443;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675013	44675013	44675013	-
NM_020708.5(SLC12A5):c.1739C>T (p.Thr580Met)	57468	SLC12A5	Uncertain significance	-1	RCV002958877;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675027	44675027	NC_000020.10:g.44675027C>T	-
NM_020708.5(SLC12A5):c.1740G>A (p.Thr580=)	57468	SLC12A5	Likely benign	200135706	RCV001493449\|RCV003432969;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44675028	44675028	20:g.44675028G>A	-
NM_020708.5(SLC12A5):c.1757A>G (p.Asn586Ser)	57468	SLC12A5	Uncertain significance	749064755	RCV001922168;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675045	44675045	44675045	-
NM_020708.5(SLC12A5):c.1767A>G (p.Pro589=)	57468	SLC12A5	Likely benign	-1	RCV003037648;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675055	44675055		-
NM_020708.5(SLC12A5):c.1768C>T (p.Arg590Cys)	57468	SLC12A5	Uncertain significance	2084595756	RCV001346188;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675056	44675056	44675056	-
NM_020708.5(SLC12A5):c.1773T>C (p.Phe591=)	57468	SLC12A5	Likely benign	567520830	RCV001406503;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675061	44675061	20:g.44675061T>C	-
NM_020708.5(SLC12A5):c.1774C>A (p.Arg592=)	57468	SLC12A5	Likely benign	774420123	RCV002174960;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675062	44675062	44675062	-
NM_020708.5(SLC12A5):c.1775G>A (p.Arg592Gln)	57468	SLC12A5	Uncertain significance	368661669	RCV001865179;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675063	44675063	44675063	-
NM_020708.5(SLC12A5):c.1778A>T (p.Tyr593Phe)	57468	SLC12A5	Uncertain significance	-1	RCV002952403;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675066	44675066	NC_000020.10:g.44675066A>T	-
NM_020708.5(SLC12A5):c.1785C>T (p.His595=)	57468	SLC12A5	Likely benign	1364638744	RCV000926871;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675073	44675073	20:g.44675073C>T	-
NM_020708.5(SLC12A5):c.1787+8C>T	57468	SLC12A5	Likely benign	775097455	RCV001401600;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44675083	44675083	44675083	-
NM_020708.5(SLC12A5):c.1788-17C>A	57468	SLC12A5	Likely benign	-1	RCV002710204;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676076	44676076	NC_000020.10:g.44676076C>A	-
NM_020708.5(SLC12A5):c.1788-12C>A	57468	SLC12A5	Likely benign	-1	RCV002576792;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676081	44676081	NC_000020.10:g.44676081C>A	-
NM_020708.5(SLC12A5):c.1788-9C>T	57468	SLC12A5	Likely benign	773585521	RCV000652734;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676084	44676084	NC_000020.10:g.44676084C>T	ClinGen:CA9887449	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1788-9C>G	57468	SLC12A5	Likely benign	-1	RCV002835188;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676084	44676084	NC_000020.10:g.44676084C>G	-
NM_020708.5(SLC12A5):c.1788-6G>T	57468	SLC12A5	Uncertain significance	-1	RCV002629650;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676087	44676087	NC_000020.10:g.44676087G>T	-
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=)	57468	SLC12A5	Conflicting interpretations of pathogenicity	140595322	RCV000658913\|RCV001485939;	N	MedGen:C3661900\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676111	44676111	20:g.44676111C>A	-	CN517202 not provided;
NM_020708.5(SLC12A5):c.1806C>T (p.Gly602=)	57468	SLC12A5	Likely benign	-1	RCV003078891;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676111	44676111		-
NM_020708.5(SLC12A5):c.1811G>T (p.Ser604Ile)	57468	SLC12A5	Uncertain significance	-1	RCV002607523;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676116	44676116	NC_000020.10:g.44676116G>T	-
NM_020708.5(SLC12A5):c.1824C>T (p.Ala608=)	57468	SLC12A5	Likely benign	959050230	RCV002113333;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676129	44676129	44676129	-
NM_020708.5(SLC12A5):c.1828A>G (p.Met610Val)	57468	SLC12A5	Uncertain significance	-1	RCV002815759;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676133	44676133	NC_000020.10:g.44676133A>G	-
NM_020708.5(SLC12A5):c.1834A>G (p.Ile612Val)	57468	SLC12A5	Uncertain significance	1600600642	RCV000797934;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676139	44676139	20:g.44676139A>G	-
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter)	57468	SLC12A5	Pathogenic	2145496676	RCV001389905;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676150	44676150	44676150	-
NM_020708.5(SLC12A5):c.1846T>C (p.Tyr616His)	57468	SLC12A5	Uncertain significance	-1	RCV003136721;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676151	44676151	NC_000020.10:g.44676151T>C	-
NM_020708.5(SLC12A5):c.1850A>G (p.Tyr617Cys)	57468	SLC12A5	Uncertain significance	1388235037	RCV001344305;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676155	44676155	44676155	-
NM_020708.5(SLC12A5):c.1888A>T (p.Lys630Ter)	57468	SLC12A5	Pathogenic	2145496726	RCV001932819;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676193	44676193	44676193	-
NM_020708.5(SLC12A5):c.1890G>A (p.Lys630=)	57468	SLC12A5	Likely benign	-1	RCV002735151;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676195	44676195		-
NM_020708.5(SLC12A5):c.1893C>T (p.Tyr631=)	57468	SLC12A5	Likely benign	758192433	RCV001452868;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676198	44676198	20:g.44676198C>T	-
NM_020708.5(SLC12A5):c.1899G>A (p.Glu633=)	57468	SLC12A5	Likely benign	984368300	RCV001419869;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676204	44676204	20:g.44676204G>A	-
NM_020708.5(SLC12A5):c.1904G>A (p.Arg635His)	57468	SLC12A5	Uncertain significance	746932137	RCV001349879;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676209	44676209	44676209	-
NM_020708.5(SLC12A5):c.1907+5G>A	57468	SLC12A5	Uncertain significance	2084607114	RCV001217552;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676217	44676217	20:g.44676217G>A	-
NM_020708.5(SLC12A5):c.1908-19T>C	57468	SLC12A5	Likely benign	1306943724	RCV002213539;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676601	44676601	44676601	-
NM_020708.5(SLC12A5):c.1908-15C>T	57468	SLC12A5	Likely benign	-1	RCV002948733;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676605	44676605	NC_000020.10:g.44676605C>T	-
NM_020708.5(SLC12A5):c.1908-11C>T	57468	SLC12A5	Likely benign	-1	RCV002829926;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676609	44676609	NC_000020.10:g.44676609C>T	-
NM_020708.5(SLC12A5):c.1908-10C>T	57468	SLC12A5	Likely benign	-1	RCV003074486;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676610	44676610	NC_000020.10:g.44676610C>T	-
NM_020708.5(SLC12A5):c.1908-9G>C	57468	SLC12A5	Likely benign	-1	RCV002633755;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676611	44676611	NC_000020.10:g.44676611G>C	-
NM_020708.5(SLC12A5):c.1920G>A (p.Glu640=)	57468	SLC12A5	Likely benign	777473085	RCV001441366;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676632	44676632	44676632	-
NM_020708.5(SLC12A5):c.1921T>C (p.Trp641Arg)	57468	SLC12A5	Uncertain significance	2084611541	RCV001309580;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676633	44676633	44676633	-
NM_020708.5(SLC12A5):c.1926C>T (p.Gly642=)	57468	SLC12A5	Benign	748908890	RCV001523084;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676638	44676638	44676638	-
NM_020708.5(SLC12A5):c.1936C>A (p.Arg646=)	57468	SLC12A5	Likely benign	771263913	RCV000980709;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676648	44676648	20:g.44676648C>A	-
NM_020708.5(SLC12A5):c.1936C>G (p.Arg646Gly)	57468	SLC12A5	Uncertain significance	771263913	RCV001898163;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676648	44676648	44676648	-
NM_020708.5(SLC12A5):c.1936C>T (p.Arg646Ter)	57468	SLC12A5	Pathogenic	-1	RCV003035682;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676648	44676648	NC_000020.10:g.44676648C>T	-
NM_020708.5(SLC12A5):c.1941T>G (p.Gly647=)	57468	SLC12A5	Likely benign	148489203	RCV000911334;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676653	44676653	20:g.44676653T>G	-
NM_020708.5(SLC12A5):c.1955C>T (p.Ala652Val)	57468	SLC12A5	Uncertain significance	1555865828	RCV000652722;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676667	44676667	NC_000020.10:g.44676667C>T	ClinGen:CA409200387	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.1956G>A (p.Ala652=)	57468	SLC12A5	Benign	190924143	RCV000955108;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676668	44676668	20:g.44676668G>A	-
NM_020708.5(SLC12A5):c.1960C>A (p.Arg654Ser)	57468	SLC12A5	Uncertain significance	200020521	RCV001221518;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676672	44676672	20:g.44676672C>A	-
NM_020708.5(SLC12A5):c.1960C>T (p.Arg654Cys)	57468	SLC12A5	Uncertain significance	200020521	RCV001924981;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676672	44676672	44676672	-
NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His)	57468	SLC12A5	Uncertain significance	760824180	RCV001065909;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676673	44676673	20:g.44676673G>A	-
NM_020708.5(SLC12A5):c.1972T>C (p.Leu658=)	57468	SLC12A5	Likely benign	1448280832	RCV002142534;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676684	44676684	44676684	-
NM_020708.5(SLC12A5):c.1975C>T (p.Arg659Cys)	57468	SLC12A5	Uncertain significance	1173713421	RCV001047473;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676687	44676687	20:g.44676687C>T	-
NM_020708.5(SLC12A5):c.1977C>A (p.Arg659=)	57468	SLC12A5	Likely benign	1397496364	RCV001465344;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676689	44676689	44676689	-
NM_020708.5(SLC12A5):c.1983G>A (p.Glu661=)	57468	SLC12A5	Uncertain significance	1179563553	RCV001314956;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676695	44676695	44676695	-
NM_020708.5(SLC12A5):c.1985_1987dup (p.Glu662dup)	57468	SLC12A5	Uncertain significance	2145497390	RCV001883376;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676695	44676696	44676695	-
NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=)	57468	SLC12A5	Likely benign	373648545	RCV001087994\|RCV000949213;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44676701	44676701	20:g.44676701G>C	-
NM_020708.5(SLC12A5):c.1989G>A (p.Gly663=)	57468	SLC12A5	Likely benign	373648545	RCV001443598;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676701	44676701	20:g.44676701G>A	-
NM_020708.5(SLC12A5):c.2012+1G>T	57468	SLC12A5	Likely pathogenic	2145497450	RCV001977824;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676725	44676725	44676725	-
NM_020708.5(SLC12A5):c.2012+3T>A	57468	SLC12A5	Benign	12481488	RCV000533562;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676727	44676727	NC_000020.10:g.44676727T>A	ClinGen:CA9887499	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2012+14G>T	57468	SLC12A5	Likely benign	1180929890	RCV001889793;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676738	44676738	44676738	-
NM_020708.5(SLC12A5):c.2012+17C>T	57468	SLC12A5	Likely benign	532073254	RCV002172483;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676741	44676741	44676741	-
NM_020708.5(SLC12A5):c.2012+18G>T	57468	SLC12A5	Likely benign	-1	RCV003083200;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676742	44676742	NC_000020.10:g.44676742G>T	-
NM_020708.5(SLC12A5):c.2012+19G>A	57468	SLC12A5	Likely benign	2084613688	RCV002134910;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676743	44676743	44676743	-
NM_020708.5(SLC12A5):c.2012+20G>C	57468	SLC12A5	Likely benign	756884412	RCV002088525;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44676744	44676744	44676744	-
NM_020708.5(SLC12A5):c.2013-10C>T	57468	SLC12A5	Likely benign	374272959	RCV000951871;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678251	44678251	20:g.44678251C>T	-
NM_020708.5(SLC12A5):c.2013-7T>C	57468	SLC12A5	Likely benign	1404275032	RCV001498671;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678254	44678254	44678254	-
NM_020708.5(SLC12A5):c.2017C>G (p.Gln673Glu)	57468	SLC12A5	Uncertain significance	766589514	RCV001914175;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678265	44678265	44678265	-
NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)	57468	SLC12A5	Pathogenic	-1	RCV002285093;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678265	44678265	44678265	-
NM_020708.5(SLC12A5):c.2020C>T (p.Leu674=)	57468	SLC12A5	Likely benign	1271881068	RCV002153180;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678268	44678268	44678268	-
NM_020708.5(SLC12A5):c.2028G>A (p.Val676=)	57468	SLC12A5	Likely benign	141236407	RCV001488542;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678276	44678276	44678276	-
NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met)	57468	SLC12A5	Uncertain significance	756040501	RCV001336502;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678277	44678277	44678277	-
NM_020708.5(SLC12A5):c.2036G>A (p.Arg679His)	57468	SLC12A5	Uncertain significance	763612651	RCV001901780;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678284	44678284	44678284	-
NM_020708.5(SLC12A5):c.2041G>A (p.Asp681Asn)	57468	SLC12A5	Uncertain significance	753266125	RCV001058819;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678289	44678289	20:g.44678289G>A	-
NM_020708.5(SLC12A5):c.2059G>T (p.Val687Leu)	57468	SLC12A5	Uncertain significance	1175869873	RCV000543346;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678307	44678307	NC_000020.10:g.44678307G>T	ClinGen:CA409202069	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2067C>T (p.Pro689=)	57468	SLC12A5	Likely benign	1383910539	RCV002128014;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678315	44678315	44678315	-
NM_020708.5(SLC12A5):c.2073G>A (p.Leu691=)	57468	SLC12A5	Likely benign	778428073	RCV001417321;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678321	44678321	44678321	-
NM_020708.5(SLC12A5):c.2074C>T (p.Leu692Phe)	57468	SLC12A5	Uncertain significance	745527673	RCV002013114;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678322	44678322	44678322	-
NM_020708.5(SLC12A5):c.2082G>A (p.Leu694=)	57468	SLC12A5	Likely benign	2145499570	RCV001424066;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678330	44678330	44678330	-
NM_020708.5(SLC12A5):c.2085C>T (p.Thr695=)	57468	SLC12A5	Likely benign	747468488	RCV001460438;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678333	44678333	20:g.44678333C>T	ClinGen:CA9887527	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2087C>T (p.Ser696Phe)	57468	SLC12A5	Uncertain significance	2145499586	RCV001891039;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678335	44678335	44678335	-
NM_020708.5(SLC12A5):c.2088C>T (p.Ser696=)	57468	SLC12A5	Likely benign	1383866766	RCV002164207;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678336	44678336	44678336	-
NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met)	57468	SLC12A5	Uncertain significance	1325111537	RCV001202421;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678340	44678340	20:g.44678340C>A	-
NM_020708.5(SLC12A5):c.2100= (p.Ala700=)	57468	SLC12A5	Benign	6032635	RCV000558147;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678348	44678348	20:g.44678348G>.	ClinGen:CA658658872	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=)	57468	SLC12A5	Benign	6032635	RCV001511471;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678348	44678348	44678348	-
NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg)	57468	SLC12A5	Uncertain significance	1555866427	RCV000658914\|RCV001364244;	N	MedGen:C3661900\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678353	44678353	20:g.44678353A>G	-	CN517202 not provided;
NM_020708.5(SLC12A5):c.2110C>T (p.Leu704=)	57468	SLC12A5	Likely benign	1600602344	RCV001467607;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678358	44678358	20:g.44678358C>T	-
NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=)	57468	SLC12A5	Benign	3746521	RCV000652729;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678366	44678366	NC_000020.10:g.44678366C>T	ClinGen:CA9887532	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2119G>C (p.Val707Leu)	57468	SLC12A5	Uncertain significance	1199339536	RCV000808829;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678367	44678367	20:g.44678367G>C	-
NM_020708.5(SLC12A5):c.2130C>A (p.Val710=)	57468	SLC12A5	Likely benign	2145499678	RCV002133571;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678378	44678378	44678378	-
NM_020708.5(SLC12A5):c.2131C>T (p.Leu711Phe)	57468	SLC12A5	Uncertain significance	-1	RCV002811832;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678379	44678379	NC_000020.10:g.44678379C>T	-
NM_020708.5(SLC12A5):c.2142C>A (p.Thr714=)	57468	SLC12A5	Likely benign	1026017018	RCV002154750;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678390	44678390	44678390	-
NM_020708.5(SLC12A5):c.2142C>G (p.Thr714=)	57468	SLC12A5	Likely benign	-1	RCV002943057;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678390	44678390		-
NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu)	57468	SLC12A5	Uncertain significance	890647462	RCV000696927\|RCV002499248;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44678391	44678391	NC_000020.10:g.44678391T>C	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2155C>A (p.His719Asn)	57468	SLC12A5	Uncertain significance	2084631866	RCV001338368;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678403	44678403	44678403	-
NM_020708.5(SLC12A5):c.2163G>A (p.Gln721=)	57468	SLC12A5	Likely benign	1423882969	RCV002151069;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678411	44678411	44678411	-
NM_020708.5(SLC12A5):c.2165C>T (p.Ala722Val)	57468	SLC12A5	Uncertain significance	1301239632	RCV000702491;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678413	44678413	20:g.44678413C>T	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2170C>A (p.Arg724=)	57468	SLC12A5	Likely benign	532191036	RCV001450904;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678418	44678418	44678418	-
NM_020708.5(SLC12A5):c.2171G>A (p.Arg724Gln)	57468	SLC12A5	Likely benign	763907201	RCV001219237;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678419	44678419	20:g.44678419G>A	-
NM_020708.5(SLC12A5):c.2181+3G>A	57468	SLC12A5	Uncertain significance	-1	RCV002730804;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678432	44678432	NC_000020.10:g.44678432G>A	-
NM_020708.5(SLC12A5):c.2181+5_2181+6delinsAA	57468	SLC12A5	Uncertain significance	2145499747	RCV001904181;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678434	44678435	44678434	-
NM_020708.5(SLC12A5):c.2181+9A>G	57468	SLC12A5	Likely benign	753882744	RCV002207181;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678438	44678438	44678438	-
NM_020708.5(SLC12A5):c.2181+9A>C	57468	SLC12A5	Likely benign	-1	RCV002574627;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678438	44678438	NC_000020.10:g.44678438A>C	-
NM_020708.5(SLC12A5):c.2181+18T>C	57468	SLC12A5	Likely benign	764842773	RCV002122119;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44678447	44678447	44678447	-
NM_020708.5(SLC12A5):c.2182-11C>T	57468	SLC12A5	Likely benign	369990409	RCV002192308;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680303	44680303	44680303	-
NM_020708.5(SLC12A5):c.2182-11C>A	57468	SLC12A5	Likely benign	369990409	RCV002102613;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680303	44680303	44680303	-
NM_020708.5(SLC12A5):c.2182-5C>G	57468	SLC12A5	Likely benign	-1	RCV002610032;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680309	44680309	NC_000020.10:g.44680309C>G	-
NM_020708.5(SLC12A5):c.2182-4C>T	57468	SLC12A5	Likely benign	-1	RCV002994118;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680310	44680310	NC_000020.10:g.44680310C>T	-
NM_020708.5(SLC12A5):c.2185A>T (p.Ile729Phe)	57468	SLC12A5	Uncertain significance	1479711008	RCV001309928;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680317	44680317	44680317	-
NM_020708.5(SLC12A5):c.2191C>T (p.Arg731Cys)	57468	SLC12A5	Uncertain significance	1197752454	RCV001205066;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680323	44680323	20:g.44680323C>T	-
NM_020708.5(SLC12A5):c.2202G>A (p.Glu734=)	57468	SLC12A5	Likely benign	2145501982	RCV001441911;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680334	44680334	44680334	-
NM_020708.5(SLC12A5):c.2210A>G (p.Lys737Arg)	57468	SLC12A5	Uncertain significance	774596447	RCV001325580;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680342	44680342	44680342	-
NM_020708.5(SLC12A5):c.2211G>A (p.Lys737=)	57468	SLC12A5	Likely benign	1181584422	RCV001414681;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680343	44680343	44680343	-
NM_020708.5(SLC12A5):c.2212G>A (p.Val738Met)	57468	SLC12A5	Uncertain significance	-1	RCV002795298;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680344	44680344	NC_000020.10:g.44680344G>A	-
NM_020708.5(SLC12A5):c.2239TCC[1] (p.Ser748del)	57468	SLC12A5	not provided	1568866916	RCV000761578;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680370	44680372	NC_000020.10:g.44680371TCC[1]	-
NM_020708.5(SLC12A5):c.2248T>A (p.Leu750Met)	57468	SLC12A5	Uncertain significance	-1	RCV002727148;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680380	44680380	NC_000020.10:g.44680380T>A	-
NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs)	57468	SLC12A5	Pathogenic	2084648529	RCV001052242;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680381	44680382	20:g.44680381_44680382insG	-
NM_020708.5(SLC12A5):c.2252G>A (p.Arg751His)	57468	SLC12A5	Uncertain significance	377709894	RCV001235012;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680384	44680384	20:g.44680384G>A	-
NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=)	57468	SLC12A5	Likely benign	764791575	RCV001204664\|RCV001531962;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44680391	44680391	20:g.44680391C>T	-
NM_020708.5(SLC12A5):c.2260G>A (p.Val754Met)	57468	SLC12A5	Uncertain significance	551572064	RCV001216926;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680392	44680392	20:g.44680392G>A	-
NM_020708.5(SLC12A5):c.2280C>T (p.Ser760=)	57468	SLC12A5	Benign	3746522	RCV001522157;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680412	44680412	44680412	-
NM_020708.5(SLC12A5):c.2283G>A (p.Gly761=)	57468	SLC12A5	Likely benign	2084648859	RCV002174741;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680415	44680415	44680415	-
NM_020708.5(SLC12A5):c.2286C>T (p.Gly762=)	57468	SLC12A5	Likely benign	766120516	RCV002126155;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680418	44680418	44680418	-
NM_020708.5(SLC12A5):c.2286C>A (p.Gly762=)	57468	SLC12A5	Likely benign	-1	RCV002639027;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680418	44680418		-
NM_020708.5(SLC12A5):c.2289C>T (p.Leu763=)	57468	SLC12A5	Likely benign	138144890	RCV001504587;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680421	44680421	20:g.44680421C>T	-
NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=)	57468	SLC12A5	Benign	79522550	RCV000532086;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680424	44680424	20:g.44680424G>T	ClinGen:CA9887566	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2292G>A (p.Gly764=)	57468	SLC12A5	Likely benign	79522550	RCV002183447;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680424	44680424	44680424	-
NM_020708.5(SLC12A5):c.2296C>A (p.Leu766Met)	57468	SLC12A5	Uncertain significance	753106879	RCV001040817;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680428	44680428	20:g.44680428C>A	-
NM_020708.5(SLC12A5):c.2297T>G (p.Leu766Arg)	57468	SLC12A5	Uncertain significance	-1	RCV002298178;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680429	44680429	44680429	-
NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg)	57468	SLC12A5	Uncertain significance	995997850	RCV001213340;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680432	44680432	20:g.44680432A>G	-
NM_020708.5(SLC12A5):c.2301_2302del (p.His768fs)	57468	SLC12A5	Pathogenic	2145502127	RCV001937317;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680433	44680434	44680432	-
NM_020708.5(SLC12A5):c.2301G>A (p.Gln767=)	57468	SLC12A5	Likely benign	-1	RCV003048211;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680433	44680433		-
NM_020708.5(SLC12A5):c.2330G>A (p.Arg777His)	57468	SLC12A5	Conflicting interpretations of pathogenicity	749336515	RCV000546989\|RCV002526718;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44680462	44680462	20:g.44680462G>A	ClinGen:CA9887571	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2338C>T (p.Arg780Cys)	57468	SLC12A5	Uncertain significance	757395459	RCV001297975\|RCV002541848;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44680470	44680470	44680470	-
NM_020708.5(SLC12A5):c.2339G>A (p.Arg780His)	57468	SLC12A5	Uncertain significance	-1	RCV002647919;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680471	44680471	NC_000020.10:g.44680471G>A	-
NM_020708.5(SLC12A5):c.2350G>T (p.Asp784Tyr)	57468	SLC12A5	Uncertain significance	2084649437	RCV001227848;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680482	44680482	20:g.44680482G>T	-
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met)	57468	SLC12A5	Uncertain significance	901985864	RCV000810376\|RCV002265889;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44680492	44680492	20:g.44680492C>T	-
NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=)	57468	SLC12A5	Benign	17344810	RCV001522632;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680493	44680493	44680493	-
NM_020708.5(SLC12A5):c.2371T>C (p.Phe791Leu)	57468	SLC12A5	Uncertain significance	776507788	RCV001897197;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680503	44680503	44680503	-
NM_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn)	57468	SLC12A5	Uncertain significance	769820337	RCV000812066\|RCV002538113;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44680507	44680507	20:g.44680507T>A	-
NM_020708.5(SLC12A5):c.2375T>C (p.Ile792Thr)	57468	SLC12A5	Uncertain significance	769820337	RCV000816460;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680507	44680507	20:g.44680507T>C	-
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=)	57468	SLC12A5	Conflicting interpretations of pathogenicity	201525976	RCV000557830\|RCV001310465\|RCV001836839;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900\|MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685; MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680508	44680508	NC_000020.10:g.44680508T>C	ClinGen:CA9887580	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2377+5C>T	57468	SLC12A5	Uncertain significance	903951175	RCV001216110;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680514	44680514	20:g.44680514C>T	-
NM_020708.5(SLC12A5):c.2377+9_2377+11del	57468	SLC12A5	Likely benign	2145502204	RCV002162143;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680517	44680519	44680516	-
NM_020708.5(SLC12A5):c.2377+10T>C	57468	SLC12A5	Likely benign	369281155	RCV000919592;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680519	44680519	20:g.44680519T>C	-
NM_020708.5(SLC12A5):c.2377+11T>C	57468	SLC12A5	Likely benign	-1	RCV003005457;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680520	44680520	NC_000020.10:g.44680520T>C	-
NM_020708.5(SLC12A5):c.2377+19G>T	57468	SLC12A5	Likely benign	759266825	RCV002071619;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44680528	44680528	44680528	-
NM_020708.5(SLC12A5):c.2378-20C>G	57468	SLC12A5	Likely benign	377253900	RCV002103882;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681576	44681576	44681576	-
NM_020708.5(SLC12A5):c.2378-18C>A	57468	SLC12A5	Likely benign	199747973	RCV002117221;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681578	44681578	44681578	-
NM_020708.5(SLC12A5):c.2378-15C>T	57468	SLC12A5	Likely benign	-1	RCV003024932;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681581	44681581	NC_000020.10:g.44681581C>T	-
NM_020708.5(SLC12A5):c.2378-14T>C	57468	SLC12A5	Likely benign	373346348	RCV002159140;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681582	44681582	44681582	-
NM_020708.5(SLC12A5):c.2385C>A (p.Val795=)	57468	SLC12A5	Likely benign	-1	RCV003034251;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681603	44681603		-
NM_020708.5(SLC12A5):c.2387G>A (p.Arg796Gln)	57468	SLC12A5	Uncertain significance	1365579102	RCV001301140;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681605	44681605	44681605	-
NM_020708.5(SLC12A5):c.2402G>A (p.Gly801Asp)	57468	SLC12A5	Uncertain significance	1555867242	RCV000652723;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681620	44681620	NC_000020.10:g.44681620G>A	ClinGen:CA409204564	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=)	57468	SLC12A5	Benign	35981087	RCV000536282;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681621	44681621	20:g.44681621C>T	ClinGen:CA9887603	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2407T>G (p.Leu803Val)	57468	SLC12A5	Uncertain significance	-1	RCV002658482;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681625	44681625	NC_000020.10:g.44681625T>G	-
NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=)	57468	SLC12A5	Likely benign	540937956	RCV000966582\|RCV001726396;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44681648	44681648	20:g.44681648C>T	-
NM_020708.5(SLC12A5):c.2431G>A (p.Val811Ile)	57468	SLC12A5	Uncertain significance	201152687	RCV001350657;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681649	44681649	44681649	-
NM_020708.5(SLC12A5):c.2433T>C (p.Val811=)	57468	SLC12A5	Likely benign	-1	RCV002996305;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681651	44681651		-
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile)	57468	SLC12A5	Conflicting interpretations of pathogenicity	200191107	RCV000652724\|RCV000764244\|RCV001531963\|RCV002530552;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	20	44681657	44681657	20:g.44681657G>A	ClinGen:CA9887611	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2443C>T (p.Pro815Ser)	57468	SLC12A5	Uncertain significance	2084659527	RCV001315105;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681661	44681661	44681661	-
NM_020708.5(SLC12A5):c.2448G>T (p.Gly816=)	57468	SLC12A5	Uncertain significance	-1	RCV003045892;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681666	44681666		-
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)	57468	SLC12A5	Conflicting interpretations of pathogenicity	201268862	RCV000551189\|RCV000764245;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44681670	44681670	20:g.44681670C>G	ClinGen:CA9887612	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2452C>A (p.Pro818Thr)	57468	SLC12A5	Uncertain significance	-1	RCV002601484;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681670	44681670	NC_000020.10:g.44681670C>A	-
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys)	57468	SLC12A5	Uncertain significance	751841577	RCV001885382\|RCV001837336;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44681673	44681673	44681673	-
NM_020708.5(SLC12A5):c.2459G>A (p.Arg820His)	57468	SLC12A5	Uncertain significance	1179723675	RCV002029551;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681677	44681677	44681677	-
NM_020708.5(SLC12A5):c.2478C>T (p.Ile826=)	57468	SLC12A5	Likely benign	-1	RCV002624833;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681696	44681696		-
NM_020708.5(SLC12A5):c.2481C>T (p.Asp827=)	57468	SLC12A5	Likely benign	368618520	RCV000889243;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681699	44681699	20:g.44681699C>T	-
NM_020708.5(SLC12A5):c.2482G>A (p.Val828Ile)	57468	SLC12A5	Uncertain significance	-1	RCV002995202;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681700	44681700	NC_000020.10:g.44681700G>A	-
NM_020708.5(SLC12A5):c.2490G>A (p.Trp830Ter)	57468	SLC12A5	Pathogenic	2145503665	RCV001386075;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681708	44681708	44681708	-
NM_020708.5(SLC12A5):c.2493T>A (p.Ile831=)	57468	SLC12A5	Likely benign	2084660049	RCV001926011;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681711	44681711	44681711	-
NM_020708.5(SLC12A5):c.2499C>T (p.His833=)	57468	SLC12A5	Likely benign	371925559	RCV000950525\|RCV003438615;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44681717	44681717	20:g.44681717C>T	-
NM_020708.5(SLC12A5):c.2502T>C (p.Asp834=)	57468	SLC12A5	Likely benign	2145503678	RCV002163515;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681720	44681720	44681720	-
NM_020708.5(SLC12A5):c.2511G>T (p.Met837Ile)	57468	SLC12A5	Uncertain significance	1251560492	RCV001362919;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681729	44681729	44681729	-
NM_020708.5(SLC12A5):c.2514C>T (p.Leu838=)	57468	SLC12A5	Likely benign	768958786	RCV001896051;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681732	44681732	44681732	-
NM_020708.5(SLC12A5):c.2519del (p.Leu840fs)	57468	SLC12A5	Pathogenic	2145503701	RCV001901949;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681737	44681737	44681736	-
NM_020708.5(SLC12A5):c.2537G>A (p.Arg846Gln)	57468	SLC12A5	Uncertain significance	-1	RCV002633931\|RCV003111634;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:CN517202	20	44681755	44681755	NC_000020.10:g.44681755G>A	-
NM_020708.5(SLC12A5):c.2541C>A (p.His847Gln)	57468	SLC12A5	Uncertain significance	1190180234	RCV001218509;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681759	44681759	20:g.44681759C>A	-
NM_020708.5(SLC12A5):c.2547G>A (p.Lys849=)	57468	SLC12A5	Uncertain significance	1271576929	RCV001891911;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681765	44681765	44681765	-
NM_020708.5(SLC12A5):c.2547+8G>T	57468	SLC12A5	Likely benign	1555867366	RCV000652727;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681773	44681773	20:g.44681773G>T	ClinGen:CA658799366	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2547+12G>A	57468	SLC12A5	Likely benign	1475116544	RCV002194090;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681777	44681777	44681777	-
NM_020708.5(SLC12A5):c.2547+13C>T	57468	SLC12A5	Likely benign	374783489	RCV002075704;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681778	44681778	44681778	-
NM_020708.5(SLC12A5):c.2547+14G>A	57468	SLC12A5	Benign	368044730	RCV002115664;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681779	44681779	44681779	-
NM_020708.5(SLC12A5):c.2547+16G>C	57468	SLC12A5	Likely benign	755275909	RCV002196913;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44681781	44681781	44681781	-
NM_020708.5(SLC12A5):c.2548-17C>T	57468	SLC12A5	Likely benign	1478879529	RCV002140615;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682200	44682200	44682200	-
NM_020708.5(SLC12A5):c.2548-9C>T	57468	SLC12A5	Likely benign	766436506	RCV001485654;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682208	44682208	20:g.44682208C>T	-
NM_020708.5(SLC12A5):c.2548-8G>A	57468	SLC12A5	Likely benign	180864043	RCV001396657;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682209	44682209	44682209	-
NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT	57468	SLC12A5	Likely benign	1600604943	RCV000924127;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682212	44682213	NC_000020.10:g.44682212_44682213delinsCT	-
NM_020708.5(SLC12A5):c.2554C>T (p.Arg852Trp)	57468	SLC12A5	Uncertain significance	1332402437	RCV001308503;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682223	44682223	44682223	-
NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu)	57468	SLC12A5	not provided	750336750	RCV000761579;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682239	44682239	NC_000020.10:g.44682239G>T	-
NM_020708.5(SLC12A5):c.2577C>T (p.Phe859=)	57468	SLC12A5	Likely benign	2145504264	RCV002188678;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682246	44682246	44682246	-
NM_020708.5(SLC12A5):c.2601T>C (p.Asn867=)	57468	SLC12A5	Likely benign	374813251	RCV001408900;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682270	44682270	44682270	-
NM_020708.5(SLC12A5):c.2639A>G (p.Tyr880Cys)	57468	SLC12A5	Uncertain significance	1270290272	RCV001351023;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682308	44682308	44682308	-
NM_020708.5(SLC12A5):c.2649C>T (p.Arg883=)	57468	SLC12A5	Likely benign	746516978	RCV001435383;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682318	44682318	44682318	-
NM_020708.5(SLC12A5):c.2655T>C (p.Thr885=)	57468	SLC12A5	Likely benign	-1	RCV002918493;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682324	44682324		-
NM_020708.5(SLC12A5):c.2657C>T (p.Ala886Val)	57468	SLC12A5	Uncertain significance	-1	RCV002828992;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682326	44682326	NC_000020.10:g.44682326C>T	-
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)	57468	SLC12A5	Conflicting interpretations of pathogenicity	546939045	RCV001336503;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682327	44682327	44682327	-
NM_020708.5(SLC12A5):c.2664C>G (p.Val888=)	57468	SLC12A5	Likely benign	1053574223	RCV001437507;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682333	44682333	44682333	-
NM_020708.5(SLC12A5):c.2664C>T (p.Val888=)	57468	SLC12A5	Likely benign	1053574223	RCV001503710;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682333	44682333	44682333	-
NM_020708.5(SLC12A5):c.2665G>A (p.Glu889Lys)	57468	SLC12A5	Uncertain significance	565709821	RCV000806290\|RCV002537218;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44682334	44682334	20:g.44682334G>A	-
NM_020708.5(SLC12A5):c.2678T>C (p.Met893Thr)	57468	SLC12A5	Uncertain significance	200461513	RCV002041086;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682347	44682347	44682347	-
NM_020708.5(SLC12A5):c.2679+8C>T	57468	SLC12A5	Likely benign	771536557	RCV001428316;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682356	44682356	20:g.44682356C>T	-
NM_020708.5(SLC12A5):c.2679+8C>A	57468	SLC12A5	Likely benign	771536557	RCV001456214;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682356	44682356	44682356	-
NM_020708.5(SLC12A5):c.2679+19C>A	57468	SLC12A5	Likely benign	-1	RCV002640527;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682367	44682367	NC_000020.10:g.44682367C>A	-
NM_020708.5(SLC12A5):c.2679+20C>T	57468	SLC12A5	Likely benign	767719655	RCV002187707;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44682368	44682368	44682368	-
NM_020708.5(SLC12A5):c.2680-5C>T	57468	SLC12A5	Likely benign	-1	RCV002991638;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683550	44683550	NC_000020.10:g.44683550C>T	-
NM_020708.5(SLC12A5):c.2680-3C>T	57468	SLC12A5	Likely benign	141933171	RCV000556897;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683552	44683552	20:g.44683552C>T	ClinGen:CA9887679	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln)	57468	SLC12A5	Uncertain significance	2084676640	RCV001331128;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683557	44683557	44683557	-
NM_020708.5(SLC12A5):c.2685G>C (p.Glu895Asp)	57468	SLC12A5	Uncertain significance	1568868408	RCV001314569;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683560	44683560	44683560	-
NM_020708.5(SLC12A5):c.2688C>T (p.Ser896=)	57468	SLC12A5	Likely benign	561222589	RCV001443542;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683563	44683563	NC_000020.10:g.44683563C>T	ClinGen:CA9887681	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2706C>T (p.Thr902=)	57468	SLC12A5	Likely benign	-1	RCV003115544;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683581	44683581		-
NM_020708.5(SLC12A5):c.2708_2709del (p.Thr902_Tyr903insTer)	57468	SLC12A5	Pathogenic	-1	RCV002966293;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683582	44683583	NC_000020.10:g.44683583_44683584del	-
NM_020708.5(SLC12A5):c.2708A>T (p.Tyr903Phe)	57468	SLC12A5	Uncertain significance	2145505900	RCV001891051;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683583	44683583	44683583	-
NM_020708.5(SLC12A5):c.2718G>A (p.Thr906=)	57468	SLC12A5	Likely benign	376060282	RCV002066426;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683593	44683593	20:g.44683593G>A	-
NM_020708.5(SLC12A5):c.2721G>A (p.Leu907=)	57468	SLC12A5	Likely benign	-1	RCV002740590;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683596	44683596		-
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His)	57468	SLC12A5	Uncertain significance	764216462	RCV001938600\|RCV002491897\|RCV003438895;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MedGen:C3661900	20	44683610	44683610	44683610	-
NM_020708.5(SLC12A5):c.2750A>G (p.Lys917Arg)	57468	SLC12A5	Uncertain significance	2084677325	RCV001351467;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683625	44683625	44683625	-
NM_020708.5(SLC12A5):c.2754G>C (p.Gln918His)	57468	SLC12A5	Uncertain significance	1417761332	RCV001337678;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683629	44683629	44683629	-
NM_020708.5(SLC12A5):c.2760T>C (p.His920=)	57468	SLC12A5	Likely benign	1600605834	RCV000983676;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683635	44683635	20:g.44683635T>C	-
NM_020708.5(SLC12A5):c.2767A>G (p.Lys923Glu)	57468	SLC12A5	Uncertain significance	2084677438	RCV001339401;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683642	44683642	44683642	-
NM_020708.5(SLC12A5):c.2776C>T (p.Arg926Trp)	57468	SLC12A5	Uncertain significance	370818838	RCV000700180\|RCV003352993;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44683651	44683651	20:g.44683651C>T	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2777G>A (p.Arg926Gln)	57468	SLC12A5	Uncertain significance	-1	RCV003069738\|RCV003079816;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683652	44683652	NC_000020.10:g.44683652G>A	-
NM_020708.5(SLC12A5):c.2782C>A (p.Arg928=)	57468	SLC12A5	Likely benign	751455156	RCV002181774;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683657	44683657	44683657	-
NM_020708.5(SLC12A5):c.2787+3G>A	57468	SLC12A5	Uncertain significance	372923917	RCV000802663;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683665	44683665	20:g.44683665G>A	-
NM_020708.5(SLC12A5):c.2787+6G>A	57468	SLC12A5	Uncertain significance	2084677694	RCV001230522;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683668	44683668	20:g.44683668G>A	-
NM_020708.5(SLC12A5):c.2787+11C>A	57468	SLC12A5	Likely benign	1483499586	RCV002167363;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683673	44683673	44683673	-
NM_020708.5(SLC12A5):c.2787+12C>G	57468	SLC12A5	Likely benign	2084677788	RCV002109967;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683674	44683674	44683674	-
NM_020708.5(SLC12A5):c.2787+17T>A	57468	SLC12A5	Likely benign	2145506047	RCV002046676;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44683679	44683679	44683679	-
NM_020708.5(SLC12A5):c.2788-14A>G	57468	SLC12A5	Likely benign	-1	RCV003065210;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684775	44684775	NC_000020.10:g.44684775A>G	-
NM_020708.5(SLC12A5):c.2788-8C>T	57468	SLC12A5	Likely benign	2145507462	RCV002185689;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684781	44684781	44684781	-
NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=)	57468	SLC12A5	Likely benign	770662324	RCV001468430;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684791	44684791	20:g.44684791C>T	-
NM_020708.5(SLC12A5):c.2799C>T (p.Ile933=)	57468	SLC12A5	Likely benign	2145507474	RCV001427236;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684800	44684800	44684800	-
NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=)	57468	SLC12A5	Benign	151293924	RCV000945692;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684806	44684806	20:g.44684806T>C	-
NM_020708.5(SLC12A5):c.2806G>A (p.Glu936Lys)	57468	SLC12A5	Uncertain significance	2084689806	RCV001305422;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684807	44684807	44684807	-
NM_020708.5(SLC12A5):c.2807A>T (p.Glu936Val)	57468	SLC12A5	Uncertain significance	2145507497	RCV002028617;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684808	44684808	44684808	-
NM_020708.5(SLC12A5):c.2811A>T (p.Ser937=)	57468	SLC12A5	Likely benign	1296196636	RCV002092200;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684812	44684812	44684812	-
NM_020708.5(SLC12A5):c.2812C>A (p.Arg938=)	57468	SLC12A5	Likely benign	-1	RCV002828271;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684813	44684813		-
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)	57468	SLC12A5	Likely pathogenic	-1	RCV003131449;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684813	44684813	NC_000020.10:g.44684813C>T	-
NM_020708.5(SLC12A5):c.2829A>G (p.Arg943=)	57468	SLC12A5	Likely benign	374273794	RCV001502301;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684830	44684830	44684830	-
NM_020708.5(SLC12A5):c.2831A>C (p.Lys944Thr)	57468	SLC12A5	Uncertain significance	-1	RCV002610040;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684832	44684832	NC_000020.10:g.44684832A>C	-
NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly)	57468	SLC12A5	Conflicting interpretations of pathogenicity	199934904	RCV000514358\|RCV000698700;	N	MedGen:C3661900\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684841	44684841	20:g.44684841C>G	ClinGen:CA9887717	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2840C>A (p.Ala947Asp)	57468	SLC12A5	Uncertain significance	199934904	RCV001931132;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684841	44684841	44684841	-
NM_020708.5(SLC12A5):c.2841C>T (p.Ala947=)	57468	SLC12A5	Likely benign	574591288	RCV002108909;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684842	44684842	44684842	-
NM_020708.5(SLC12A5):c.2844C>T (p.Asn948=)	57468	SLC12A5	Likely benign	1273740578	RCV002205573;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684845	44684845	44684845	-
NM_020708.5(SLC12A5):c.2846C>T (p.Thr949Met)	57468	SLC12A5	Uncertain significance	758888959	RCV002013053;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684847	44684847	44684847	-
NM_020708.5(SLC12A5):c.2847G>A (p.Thr949=)	57468	SLC12A5	Likely benign	-1	RCV003063414;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684848	44684848		-
NM_020708.5(SLC12A5):c.2854C>T (p.Arg952Cys)	57468	SLC12A5	Uncertain significance	747552467	RCV000808292;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684855	44684855	20:g.44684855C>T	-
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His)	57468	SLC12A5	Conflicting interpretations of pathogenicity	142740233	RCV000202638\|RCV000990308\|RCV002262796;	N	MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44684856	44684856	20:g.44684856G>A	ClinGen:CA214744,UniProtKB:Q9H2X9#VAR_075081,OMIM:606726.0004	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2856C>T (p.Arg952=)	57468	SLC12A5	Likely benign	2084690897	RCV002106210;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684857	44684857	44684857	-
NM_020708.5(SLC12A5):c.2860A>G (p.Asn954Asp)	57468	SLC12A5	Uncertain significance	781354583	RCV001347459\|RCV003246912;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44684861	44684861	44684861	-
NM_020708.5(SLC12A5):c.2862C>A (p.Asn954Lys)	57468	SLC12A5	Uncertain significance	754601939	RCV000797434;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684863	44684863	20:g.44684863C>A	-
NM_020708.5(SLC12A5):c.2862C>T (p.Asn954=)	57468	SLC12A5	Likely benign	754601939	RCV000937738;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684863	44684863	20:g.44684863C>T	-
NM_020708.5(SLC12A5):c.2863G>A (p.Val955Ile)	57468	SLC12A5	Uncertain significance	-1	RCV002908610;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684864	44684864	NC_000020.10:g.44684864G>A	-
NM_020708.5(SLC12A5):c.2868A>G (p.Pro956=)	57468	SLC12A5	Likely benign	-1	RCV002716810;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684869	44684869		-
NM_020708.5(SLC12A5):c.2872G>A (p.Glu958Lys)	57468	SLC12A5	Uncertain significance	-1	RCV002304326;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684873	44684873	44684873	-
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met)	57468	SLC12A5	Uncertain significance	759314815	RCV001056956\|RCV002240476;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:CN169374	20	44684877	44684877	20:g.44684877C>T	-
NM_020708.5(SLC12A5):c.2877G>A (p.Thr959=)	57468	SLC12A5	Likely benign	771915911	RCV001440383;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684878	44684878	44684878	-
NM_020708.5(SLC12A5):c.2879C>G (p.Ala960Gly)	57468	SLC12A5	Uncertain significance	775224780	RCV001971823;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684880	44684880	44684880	-
NM_020708.5(SLC12A5):c.2880T>C (p.Ala960=)	57468	SLC12A5	Likely benign	760701805	RCV002192198;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684881	44684881	44684881	-
NM_020708.5(SLC12A5):c.2885A>G (p.Asp962Gly)	57468	SLC12A5	Uncertain significance	1284519025	RCV000809219;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684886	44684886	20:g.44684886A>G	-
NM_020708.5(SLC12A5):c.2888G>A (p.Ser963Asn)	57468	SLC12A5	Uncertain significance	-1	RCV003136720;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684889	44684889	NC_000020.10:g.44684889G>A	-
NM_020708.5(SLC12A5):c.2894_2898del (p.Glu965fs)	57468	SLC12A5	Pathogenic	2145507682	RCV001903437;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684891	44684895	44684890	-
NM_020708.5(SLC12A5):c.2890G>A (p.Glu964Lys)	57468	SLC12A5	Uncertain significance	-1	RCV002721744;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684891	44684891	NC_000020.10:g.44684891G>A	-
NM_020708.5(SLC12A5):c.2893G>C (p.Glu965Gln)	57468	SLC12A5	Uncertain significance	776262547	RCV000815758;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684894	44684894	20:g.44684894G>C	-
NM_020708.5(SLC12A5):c.2910G>A (p.Glu970=)	57468	SLC12A5	Uncertain significance	-1	RCV003057558;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684911	44684911		-
NM_020708.5(SLC12A5):c.2910+3G>A	57468	SLC12A5	Uncertain significance	758619527	RCV001297872;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684914	44684914	44684914	-
NM_020708.5(SLC12A5):c.2910+7A>C	57468	SLC12A5	Likely benign	370981994	RCV001399424;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684918	44684918	44684918	-
NM_020708.5(SLC12A5):c.2910+9del	57468	SLC12A5	Likely benign	773293457	RCV001505874;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684920	44684920	44684919	-
NM_020708.5(SLC12A5):c.2910+9C>T	57468	SLC12A5	Likely benign	-1	RCV003048505;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684920	44684920	NC_000020.10:g.44684920C>T	-
NM_020708.5(SLC12A5):c.2910+16G>T	57468	SLC12A5	Likely benign	2145507733	RCV002189634;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684927	44684927	44684927	-
NM_020708.5(SLC12A5):c.2910+19T>C	57468	SLC12A5	Likely benign	-1	RCV002871900;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684930	44684930	NC_000020.10:g.44684930T>C	-
NM_020708.5(SLC12A5):c.2911-19C>T	57468	SLC12A5	Likely benign	202150692	RCV002209647;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684985	44684985	44684985	-
NM_020708.5(SLC12A5):c.2911-18G>A	57468	SLC12A5	Likely benign	371561644	RCV002095214;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684986	44684986	44684986	-
NM_020708.5(SLC12A5):c.2911-5C>T	57468	SLC12A5	Likely benign	-1	RCV002796044;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44684999	44684999	NC_000020.10:g.44684999C>T	-
NM_020708.5(SLC12A5):c.2911-3C>T	57468	SLC12A5	Uncertain significance	2084693738	RCV001301734;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685001	44685001	44685001	-
NM_020708.5(SLC12A5):c.2925C>A (p.His975Gln)	57468	SLC12A5	Uncertain significance	778476586	RCV001217426;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685018	44685018	20:g.44685018C>A	-
NM_020708.5(SLC12A5):c.2925C>T (p.His975=)	57468	SLC12A5	Likely benign	778476586	RCV001960691;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685018	44685018	44685018	-
NM_020708.5(SLC12A5):c.2926G>A (p.Asp976Asn)	57468	SLC12A5	Uncertain significance	-1	RCV002583415;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685019	44685019	NC_000020.10:g.44685019G>A	-
NM_020708.5(SLC12A5):c.2933G>A (p.Ser978Asn)	57468	SLC12A5	Uncertain significance	1216388861	RCV000688334;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685026	44685026	NC_000020.10:g.44685026G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.2935G>A (p.Ala979Thr)	57468	SLC12A5	Uncertain significance	751920054	RCV000798640;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685028	44685028	20:g.44685028G>A	-
NM_020708.5(SLC12A5):c.2938C>A (p.Pro980Thr)	57468	SLC12A5	Uncertain significance	2145507934	RCV001920046;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685031	44685031	44685031	-
NM_020708.5(SLC12A5):c.2942G>A (p.Ser981Asn)	57468	SLC12A5	Uncertain significance	2084694133	RCV001231168;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685035	44685035	20:g.44685035G>A	-
NM_020708.5(SLC12A5):c.2953A>G (p.Ser985Gly)	57468	SLC12A5	Uncertain significance	2145507962	RCV001927571;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685046	44685046	44685046	-
NM_020708.5(SLC12A5):c.2960C>T (p.Pro987Leu)	57468	SLC12A5	Likely benign	-1	RCV002620838;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685053	44685053	NC_000020.10:g.44685053C>T	-
NM_020708.5(SLC12A5):c.2961G>A (p.Pro987=)	57468	SLC12A5	Likely benign	550491448	RCV001452429;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685054	44685054	44685054	-
NM_020708.5(SLC12A5):c.2963C>T (p.Ser988Phe)	57468	SLC12A5	Uncertain significance	1600607044	RCV000800517;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685056	44685056	20:g.44685056C>T	-
NM_020708.5(SLC12A5):c.2967A>G (p.Pro989=)	57468	SLC12A5	Likely benign	1441127714	RCV000881678;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685060	44685060	20:g.44685060A>G	-
NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala)	57468	SLC12A5	Uncertain significance	376925159	RCV001065265;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685077	44685077	20:g.44685077G>C	-
NM_020708.5(SLC12A5):c.2985G>A (p.Gly995=)	57468	SLC12A5	Likely benign	2145508040	RCV001454346;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685078	44685078	44685078	-
NM_020708.5(SLC12A5):c.2989G>A (p.Gly997Arg)	57468	SLC12A5	Uncertain significance	2084695025	RCV001937808;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685082	44685082	44685082	-
NM_020708.5(SLC12A5):c.2991G>A (p.Gly997=)	57468	SLC12A5	Likely benign	-1	RCV002909286;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685084	44685084		-
NM_020708.5(SLC12A5):c.3001C>T (p.Pro1001Ser)	57468	SLC12A5	Uncertain significance	2084695249	RCV001299932;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685094	44685094	44685094	-
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu)	57468	SLC12A5	Uncertain significance	749426883	RCV001336504;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685095	44685095	44685095	-
NM_020708.5(SLC12A5):c.3002C>G (p.Pro1001Arg)	57468	SLC12A5	Uncertain significance	749426883	RCV001936361;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685095	44685095	44685095	-
NM_020708.5(SLC12A5):c.3003G>A (p.Pro1001=)	57468	SLC12A5	Likely benign	757482980	RCV001456558;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685096	44685096	44685096	-
NM_020708.5(SLC12A5):c.3010G>A (p.Val1004Met)	57468	SLC12A5	Uncertain significance	2145508098	RCV001898612;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685103	44685103	44685103	-
NM_020708.5(SLC12A5):c.3015T>C (p.His1005=)	57468	SLC12A5	Likely benign	2145508104	RCV001425032;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685108	44685108	44685108	-
NM_020708.5(SLC12A5):c.3027C>G (p.Thr1009=)	57468	SLC12A5	Likely benign	201194560	RCV001503411;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685120	44685120	44685120	-
NM_020708.5(SLC12A5):c.3027C>A (p.Thr1009=)	57468	SLC12A5	Likely benign	-1	RCV002766532;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685120	44685120		-
NM_020708.5(SLC12A5):c.3028A>G (p.Lys1010Glu)	57468	SLC12A5	Uncertain significance	2084695663	RCV001070916;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685121	44685121	20:g.44685121A>G	-
NM_020708.5(SLC12A5):c.3031G>A (p.Asp1011Asn)	57468	SLC12A5	Uncertain significance	-1	RCV003041746;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685124	44685124	NC_000020.10:g.44685124G>A	-
NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu)	57468	SLC12A5	Uncertain significance	2084695742	RCV001070588;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685126	44685126	20:g.44685126C>G	-
NM_020708.5(SLC12A5):c.3040G>A (p.Val1014Met)	57468	SLC12A5	Uncertain significance	2145508136	RCV001948306;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685133	44685133	44685133	-
NM_020708.5(SLC12A5):c.3051G>A (p.Lys1017=)	57468	SLC12A5	Likely benign	-1	RCV003067197;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685144	44685144		-
NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu)	57468	SLC12A5	Uncertain significance	1206199358	RCV001057598;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685155	44685155	20:g.44685155C>T	-
NM_020708.5(SLC12A5):c.3067C>G (p.Pro1023Ala)	57468	SLC12A5	Uncertain significance	146580614	RCV002031677;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685160	44685160	44685160	-
NM_020708.5(SLC12A5):c.3072C>G (p.Val1024=)	57468	SLC12A5	Likely benign	-1	RCV002991440;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685165	44685165		-
NM_020708.5(SLC12A5):c.3074C>T (p.Ser1025Phe)	57468	SLC12A5	Uncertain significance	-1	RCV002814912;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685167	44685167	NC_000020.10:g.44685167C>T	-
NM_020708.5(SLC12A5):c.3080A>G (p.Glu1027Gly)	57468	SLC12A5	Uncertain significance	-1	RCV002995702;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685173	44685173	NC_000020.10:g.44685173A>G	-
NM_020708.5(SLC12A5):c.3083G>A (p.Gly1028Asp)	57468	SLC12A5	Uncertain significance	367960887	RCV001217639;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685176	44685176	20:g.44685176G>A	-
NM_020708.5(SLC12A5):c.3091G>C (p.Asp1031His)	57468	SLC12A5	Uncertain significance	2145508232	RCV001360816;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685184	44685184	44685184	-
NM_020708.5(SLC12A5):c.3096C>A (p.Phe1032Leu)	57468	SLC12A5	Uncertain significance	-1	RCV003026272;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685189	44685189	NC_000020.10:g.44685189C>A	-
NM_020708.5(SLC12A5):c.3101G>A (p.Ser1034Asn)	57468	SLC12A5	Uncertain significance	750612388	RCV002017774;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685194	44685194	44685194	-
NM_020708.5(SLC12A5):c.3105G>T (p.Met1035Ile)	57468	SLC12A5	Uncertain significance	375422132	RCV001302204;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685198	44685198	44685198	-
NM_020708.5(SLC12A5):c.3110C>T (p.Pro1037Leu)	57468	SLC12A5	Uncertain significance	1304640833	RCV001367159;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685203	44685203	44685203	-
NM_020708.5(SLC12A5):c.3110+1G>A	57468	SLC12A5	Likely pathogenic	-1	RCV003112011;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685204	44685204	NC_000020.10:g.44685204G>A	-
NM_020708.5(SLC12A5):c.3110+4C>T	57468	SLC12A5	Uncertain significance	781152138	RCV000528110\|RCV003437283;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MedGen:C3661900	20	44685207	44685207	NC_000020.10:g.44685207C>T	ClinGen:CA9887783	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3110+5G>A	57468	SLC12A5	Uncertain significance	748005684	RCV001942455;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685208	44685208	44685208	-
NM_020708.5(SLC12A5):c.3110+10T>C	57468	SLC12A5	Likely benign	2145508277	RCV001446032;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685213	44685213	44685213	-
NM_020708.5(SLC12A5):c.3110+14G>A	57468	SLC12A5	Uncertain significance	-1	RCV002644500;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685217	44685217	NC_000020.10:g.44685217G>A	-
NM_020708.5(SLC12A5):c.3110+18A>C	57468	SLC12A5	Likely benign	202018911	RCV002129125;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685221	44685221	44685221	-
NM_020708.5(SLC12A5):c.3120G>A (p.Glu1040=)	57468	SLC12A5	Likely benign	761882854	RCV002130862;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685545	44685545	44685545	-
NM_020708.5(SLC12A5):c.3125+20T>C	57468	SLC12A5	Likely benign	-1	RCV002923423;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685570	44685570	NC_000020.10:g.44685570T>C	-
NM_020708.5(SLC12A5):c.3126-19C>T	57468	SLC12A5	Likely benign	766692928	RCV002114699;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685790	44685790	44685790	-
NM_020708.5(SLC12A5):c.3126-14_3126-12del	57468	SLC12A5	Likely benign	-1	RCV002904364;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685790	44685792	NC_000020.10:g.44685792CCT[1]	-
NM_020708.5(SLC12A5):c.3126-17C>T	57468	SLC12A5	Likely benign	-1	RCV003038686;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685792	44685792	NC_000020.10:g.44685792C>T	-
NM_020708.5(SLC12A5):c.3126-15T>C	57468	SLC12A5	Likely benign	199825251	RCV002184056;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685794	44685794	44685794	-
NM_020708.5(SLC12A5):c.3126-6C>A	57468	SLC12A5	Likely benign	372120376	RCV000652718;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685803	44685803	NC_000020.10:g.44685803C>A	ClinGen:CA9887826	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3126-5del	57468	SLC12A5	Likely benign	-1	RCV002852601;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685803	44685803	NC_000020.10:g.44685804del	-
NM_020708.5(SLC12A5):c.3126-3dup	57468	SLC12A5	Conflicting interpretations of pathogenicity	767708918	RCV001431837\|RCV002534178;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44685805	44685806	NC_000020.10:g.44685806dup	ClinGen:CA9887828	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu)	57468	SLC12A5	Uncertain significance	529949253	RCV001203206;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685814	44685814	20:g.44685814A>T	-
NM_020708.5(SLC12A5):c.3142C>T (p.Arg1048Trp)	57468	SLC12A5	Uncertain significance	369042030	RCV000794033;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685825	44685825	20:g.44685825C>T	-
NM_020708.5(SLC12A5):c.3143G>A (p.Arg1048Gln)	57468	SLC12A5	Uncertain significance	1291356001	RCV001346773;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685826	44685826	44685826	-
NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys)	57468	SLC12A5	Uncertain significance	548424453	RCV000202620\|RCV002515493;	N	MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685828	44685828	NC_000020.10:g.44685828C>T	ClinGen:CA214742,UniProtKB:Q9H2X9#VAR_075083,OMIM:606726.0005	C4225245 616685 Epilepsy, idiopathic generalized, susceptibility to, 14;
NM_020708.5(SLC12A5):c.3156G>A (p.Thr1052=)	57468	SLC12A5	Likely benign	200558731	RCV000695857;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685839	44685839	20:g.44685839G>A	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3156G>C (p.Thr1052=)	57468	SLC12A5	Likely benign	200558731	RCV001455629;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685839	44685839	20:g.44685839G>C	-
NM_020708.5(SLC12A5):c.3159_3180del (p.Ala1053_Val1054insTer)	57468	SLC12A5	Pathogenic	-1	RCV002909722;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685841	44685862	NC_000020.10:g.44685842_44685863del	-
NM_020708.5(SLC12A5):c.3163C>A (p.Arg1055=)	57468	SLC12A5	Uncertain significance	2084704107	RCV001050028;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685846	44685846	20:g.44685846C>A	-
NM_020708.5(SLC12A5):c.3173_3175del (p.Glu1058del)	57468	SLC12A5	Uncertain significance	2084704275	RCV001351980;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685855	44685857	44685854	-
NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val)	57468	SLC12A5	Conflicting interpretations of pathogenicity	770196677	RCV000702490\|RCV002534399;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MeSH:D030342,MedGen:C0950123	20	44685861	44685861	NC_000020.10:g.44685861A>G	-	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3181G>T (p.Val1061Leu)	57468	SLC12A5	Uncertain significance	763066735	RCV001990912;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685864	44685864	44685864	-
NM_020708.5(SLC12A5):c.3193C>T (p.Arg1065Trp)	57468	SLC12A5	Uncertain significance	774675766	RCV002208780;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685	20	44685876	44685876	44685876	-
NM_020708.5(SLC12A5):c.3195G>C (p.Arg1065=)	57468	SLC12A5	Likely benign	2145509221	RCV001472513;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685878	44685878	44685878	-
NM_020708.5(SLC12A5):c.3199G>A (p.Ala1067Thr)	57468	SLC12A5	Uncertain significance	1600607907	RCV000797828;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685882	44685882	20:g.44685882G>A	-
NM_020708.5(SLC12A5):c.3200C>G (p.Ala1067Gly)	57468	SLC12A5	Uncertain significance	2084704738	RCV001302156;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685883	44685883	44685883	-
NM_020708.5(SLC12A5):c.3218A>G (p.Asn1073Ser)	57468	SLC12A5	Uncertain significance	1402047500	RCV001244329;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685901	44685901	20:g.44685901A>G	-
NM_020708.5(SLC12A5):c.3222G>A (p.Met1074Ile)	57468	SLC12A5	Uncertain significance	2084704882	RCV001044880;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685905	44685905	20:g.44685905G>A	-
NM_020708.5(SLC12A5):c.3228G>A (p.Gly1076=)	57468	SLC12A5	Likely benign	767829797	RCV000652733;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685911	44685911	20:g.44685911G>A	ClinGen:CA9887842	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3240C>T (p.Asn1080=)	57468	SLC12A5	Likely benign	912083023	RCV002159627;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685923	44685923	44685923	-
NM_020708.5(SLC12A5):c.3242G>T (p.Arg1081Leu)	57468	SLC12A5	Uncertain significance	376095009	RCV001044879;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685925	44685925	20:g.44685925G>T	-
NM_020708.5(SLC12A5):c.3242G>A (p.Arg1081His)	57468	SLC12A5	Uncertain significance	376095009	RCV001344679;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685925	44685925	44685925	-
NM_020708.5(SLC12A5):c.3246T>C (p.Asn1082=)	57468	SLC12A5	Likely benign	750376604	RCV002144650;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685929	44685929	44685929	-
NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn)	57468	SLC12A5	Uncertain significance	2084705283	RCV001053644;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685933	44685933	20:g.44685933G>A	-
NM_020708.5(SLC12A5):c.3252T>C (p.Asp1084=)	57468	SLC12A5	Likely benign	751114001	RCV001425728;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685935	44685935	20:g.44685935T>C	-
NM_020708.5(SLC12A5):c.3259+18T>C	57468	SLC12A5	Likely benign	754552673	RCV002105400;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685960	44685960	44685960	-
NM_020708.5(SLC12A5):c.3259+20G>T	57468	SLC12A5	Likely benign	767118034	RCV002176281;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44685962	44685962	44685962	-
NM_020708.5(SLC12A5):c.3260-9G>C	57468	SLC12A5	Likely benign	371575101	RCV001457388;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686144	44686144	44686144	-
NM_020708.5(SLC12A5):c.3260-3C>A	57468	SLC12A5	Uncertain significance	762852631	RCV000539057\|RCV000764246\|RCV002526719;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181\|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181; MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685\|MeSH:D030342,MedGen:C0950123	20	44686150	44686150	20:g.44686150C>A	ClinGen:CA9887865	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3260-3C>G	57468	SLC12A5	Uncertain significance	-1	RCV002796665;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686150	44686150	NC_000020.10:g.44686150C>G	-
NM_020708.5(SLC12A5):c.3261C>T (p.Tyr1087=)	57468	SLC12A5	Likely benign	2084707675	RCV001462022;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686154	44686154	44686154	-
NM_020708.5(SLC12A5):c.3267G>T (p.Glu1089Asp)	57468	SLC12A5	Uncertain significance	374697509	RCV001327292;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686160	44686160	44686160	-
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys)	57468	SLC12A5	Likely pathogenic	1555868402	RCV000585846;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686167	44686167	20:g.44686167G>A	ClinGen:CA409210347	C4225257 616645 Early infantile epileptic encephalopathy 34;
NM_020708.5(SLC12A5):c.3285A>T (p.Thr1095=)	57468	SLC12A5	Likely benign	2145509644	RCV002216365;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686178	44686178	44686178	-
NM_020708.5(SLC12A5):c.3288G>A (p.Glu1096=)	57468	SLC12A5	Likely benign	-1	RCV002690121;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686181	44686181		-
NM_020708.5(SLC12A5):c.3304A>T (p.Met1102Leu)	57468	SLC12A5	Uncertain significance	2084707984	RCV001950420;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686197	44686197	44686197	-
NM_020708.5(SLC12A5):c.3321C>T (p.Gly1107=)	57468	SLC12A5	Likely benign	1413192522	RCV002201535;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686214	44686214	44686214	-
NM_020708.5(SLC12A5):c.3325C>T (p.Arg1109Cys)	57468	SLC12A5	Uncertain significance	1568870063	RCV001343556;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686218	44686218	44686218	-
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=)	57468	SLC12A5	Uncertain significance	1394912099	RCV001336505;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686223	44686223	44686223	-
NM_020708.5(SLC12A5):c.3342C>T (p.Ile1114=)	57468	SLC12A5	Likely benign	2145509716	RCV001405805;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686235	44686235	44686235	-
NM_020708.5(SLC12A5):c.3347C>A (p.Ser1116Tyr)	57468	SLC12A5	Uncertain significance	150192950	RCV001322097;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686240	44686240	44686240	-
NM_020708.5(SLC12A5):c.3348C>A (p.Ser1116=)	57468	SLC12A5	Likely benign	-1	RCV003064073;	N	MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645, Orphanet:293181	20	44686241	44686241		-

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