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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: Developmental Disabilities (D002658)
Parent Node: Microcephaly (D008831)
Parent Node: Seizures (D012640)
..Starting node ..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..Dysmyelination With Jaundice (C565610)
..Glycosylphosphatidylinositol deficiency (C537277)
..Hyper-Beta-Alaninemia (C562684)
..HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462) L: 00479;
..Hyperleucine-Isoleucinemia (C562674)
..HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..Muller Barth Menger syndrome (C537370)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..Seizures, Febrile (D003294) 21
..SeSAME syndrome (C557674)
..Status Epilepticus (D013226) 1
..Tranebjaerg Svejgaard syndrome (C536978)
..WHITE-SUTTON SYNDROME (OMIM:616364)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7947

Name:

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Definition:

Alternative IDs:

DO:DOID:0050709|DO:DOID:2481

ParentIDs:

MESH:D002658|MESH:D008831|MESH:D012640

TreeNumbers:

C05.660.207.620/613402 |C10.500.507.400.500/613402 |C10.597.742/613402 |C16.131.621.207.620/613402 |C16.131.666.507.400.500/613402 |C23.888.592.742/613402 |F03.625.421/613402

Synonyms:

EIEE10 |EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 |MCSZ

Slim Mappings:

Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 613402
MeSH: 613402
OMIM: 613402;
MSeqDR :
Genes: PNKP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia	HP:0040283
3	HP:0009879	Cortical gyral simplification
4	HP:0200134	Epileptic encephalopathy
5	HP:0001290	Generalized hypotonia
6	HP:0000752	Hyperactivity
7	HP:0002079	Hypoplasia of the corpus callosum
8	HP:0001265	Hyporeflexia	HP:0040283
9	HP:0010864	Intellectual disability, severe
10	HP:0001270	Motor delay
11	HP:0000253	Progressive microcephaly
12	HP:0001250	Seizures NAMDC: Seizures
13	HP:0003202	Skeletal muscle atrophy
14	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_016359.5(NUSAP1):c.1209C>A (p.Tyr403Ter)	51203	NUSAP1	Likely pathogenic	2140875089	RCV002255108;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	15	41669479	41669479	41669479	-
NM_007254.4(PNKP):c.*43G>A	11284	PNKP	Uncertain significance	202061196	RCV001136116;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364462	50364462	19:g.50364462C>T	-
NM_007254.4(PNKP):c.*23A>C	11284	PNKP	Uncertain significance	886054582	RCV000350175;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364482	50364482	19:g.50364482T>G	ClinGen:CA10652186	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.*21A>C	11284	PNKP	Benign	201872477	RCV000395447;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364484	50364484	19:g.50364484T>G	ClinGen:CA9586297	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.*15C>T	11284	PNKP	Conflicting interpretations of pathogenicity	1050332	RCV000127496\|RCV000147342\|RCV002312920;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123	19	50364490	50364490	NC_000019.9:g.50364490G>A	ClinGen:CA251141	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	11284	PNKP	Uncertain significance	886043128	RCV000358236\|RCV000765459\|RCV001129138\|RCV001203429;	N	MedGen:C3661900\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50364512	50364512	19:g.50364512T>C	ClinGen:CA10605141	CN169374 not specified;
NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	11284	PNKP	Benign	142180374	RCV000147355\|RCV000476794\|RCV001084690\|RCV001129139\|RCV002316394;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123	19	50364514	50364514	NC_000019.9:g.50364514G>A	ClinGen:CA295146	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	11284	PNKP	Conflicting interpretations of pathogenicity	146478958	RCV000127494\|RCV000147354\|RCV000534993\|RCV001083078\|RCV002316393;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50364549	50364549	NC_000019.9:g.50364549C>T	ClinGen:CA251151	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)	11284	PNKP	Uncertain significance	148669160	RCV000188463\|RCV001051507\|RCV001129140\|RCV002390495;	N	MedGen:CN517202\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123	19	50364561	50364561	NC_000019.9:g.50364561G>C	ClinGen:CA316515
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)	11284	PNKP	Conflicting interpretations of pathogenicity	116192442	RCV000186648\|RCV000723575\|RCV001129141\|RCV001085390\|RCV002313783;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50364580	50364580	19:g.50364580G>A	ClinGen:CA223012	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)	11284	PNKP	Conflicting interpretations of pathogenicity	60279874	RCV000147350\|RCV003415981;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900	19	50364589	50364589	19:g.50364589G>T	ClinGen:CA251146	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)	11284	PNKP	Benign/Likely benign	3739206	RCV000147349\|RCV000314798\|RCV000458308\|RCV002312588;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50364721	50364721	NC_000019.9:g.50364721A>C	ClinGen:CA295144,UniProtKB:Q96T60#VAR_019264	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)	11284	PNKP	Uncertain significance	766655539	RCV000685510\|RCV000765460\|RCV000732653\|RCV002544715;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	19	50364724	50364724	NC_000019.9:g.50364724A>G	-	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1422G>A (p.Val474=)	11284	PNKP	Uncertain significance	1017330396	RCV001129142;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364732	50364732	19:g.50364732C>T	-
NM_007254.4(PNKP):c.1413T>C (p.His471=)	11284	PNKP	Conflicting interpretations of pathogenicity	370017666	RCV000593965\|RCV001129143\|RCV001485549;	N	MedGen:CN517202\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50364741	50364741	19:g.50364741A>G	ClinGen:CA9586383	CN169374 not specified;
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)	11284	PNKP	Uncertain significance	377619541	RCV000188459\|RCV001857633\|RCV002492866;	N	MedGen:CN517202\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364763	50364763	NC_000019.9:g.50364763C>G	ClinGen:CA316507
NM_007254.4(PNKP):c.1390C>A (p.Arg464=)	11284	PNKP	Uncertain significance	138249970	RCV000369533;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364764	50364764	19:g.50364764G>T	ClinGen:CA10652697	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)	11284	PNKP	Uncertain significance	763116781	RCV000678825\|RCV000765461\|RCV001839016;	N	MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100, Orphanet:3006\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364765	50364765	NC_000019.9:g.50364765A>C	-	C1849508 266100 Pyridoxine-dependent epilepsy;
NM_007254.4(PNKP):c.1387-11G>A	11284	PNKP	Conflicting interpretations of pathogenicity	200785744	RCV000270254\|RCV000431674\|RCV002057523;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50364778	50364778	19:g.50364778C>T	ClinGen:CA9586397	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.1386+49_1387-33del	11284	PNKP	Pathogenic	752902474	RCV000194165\|RCV000798839\|RCV001815244\|RCV003335190;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|	19	50364800	50364816	NC_000019.9:g.50364811_50364827del	ClinGen:CA251312,OMIM:605610.0004	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	11284	PNKP	Conflicting interpretations of pathogenicity	376854895	RCV000081505\|RCV000147348\|RCV000466734\|RCV001081069\|RCV002313782;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50364866	50364866	19:g.50364866C>T	ClinGen:CA223010	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)	11284	PNKP	Conflicting interpretations of pathogenicity	376854895	RCV000188458\|RCV000306618\|RCV000692070\|RCV000622668;	N	MedGen:CN517202\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50364866	50364866	NC_000019.9:g.50364866C>G	ClinGen:CA316505,UniProtKB:Q96T60#VAR_076537	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)	11284	PNKP	Uncertain significance	775762473	RCV000467950\|RCV000483581\|RCV000765462\|RCV002318528;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MeSH:D030342,MedGen:C0950123	19	50364870	50364870	NC_000019.9:g.50364870T>C	ClinGen:CA9586444	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	11284	PNKP	Conflicting interpretations of pathogenicity	200611702	RCV000188416\|RCV000366061\|RCV000472592\|RCV000723672\|RCV002055206\|RCV002316250;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402	19	50364891	50364891	19:g.50364891G>T	ClinGen:CA223008	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)	11284	PNKP	Uncertain significance	200611702	RCV000809805\|RCV001270054\|RCV001759560\|RCV002537319;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	19	50364891	50364891	19:g.50364891G>C	-
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)	11284	PNKP	Benign/Likely benign	549000007	RCV000188456\|RCV000226268\|RCV001131823\|RCV001721212\|RCV002314738;	N	MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50364929	50364929	NC_000019.9:g.50364929G>C	ClinGen:CA316501	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.1320C>T (p.Ala440=)	11284	PNKP	Conflicting interpretations of pathogenicity	565533397	RCV000271492\|RCV001718691\|RCV002057524;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50364931	50364931	19:g.50364931G>A	ClinGen:CA9586455	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)	11284	PNKP	Uncertain significance	377688490	RCV000147347\|RCV000458378;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50364932	50364932	19:g.50364932G>C	ClinGen:CA251144	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)	11284	PNKP	Likely pathogenic	-1	RCV003340935;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364933	50364934		-
NM_007254.4(PNKP):c.1299-5_1303del	11284	PNKP	Pathogenic	2122319422	RCV001731174;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50364948	50364957	50364947	-
NM_007254.4(PNKP):c.1295_1298+6del	11284	PNKP	Pathogenic/Likely pathogenic	587784366	RCV000147346\|RCV000188473\|RCV000825541\|RCV001070856;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN517202\|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365023	50365032	NC_000019.9:g.50365026_50365035del	ClinGen:CA251143	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1288_1298+1del	11284	PNKP	Uncertain significance	1555810849	RCV000778551;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365028	50365039	NC_000019.9:g.50365029_50365040del	-
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)	11284	PNKP	Pathogenic	-1	RCV002470636;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365040	50365041	NC_000019.9:g.50365042_50365043insTTAGC	-
NM_007254.4(PNKP):c.1286C>G (p.Ala429Gly)	11284	PNKP	Uncertain significance	769707108	RCV001131824;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365041	50365041	19:g.50365041G>C	-
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)	11284	PNKP	Uncertain significance	1568659088	RCV001810335\|RCV001837040;	N	MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365045	50365045	50365045	-
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	11284	PNKP	Pathogenic	587784365	RCV000005120\|RCV000167521\|RCV000188471\|RCV000706286\|RCV001257702\|RCV001813954\|RCV002415399;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP	19	50365057	50365058	NC_000019.9:g.50365061_50365077dup	ClinGen:CA213109,OMIM:605610.0002
NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC (p.Ile421fs)	11284	PNKP	Pathogenic	1600416052	RCV000995611;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365065	50365066	19:g.50365065_50365066insGTTGTCGATGGCGACCC	-
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp)	11284	PNKP	Uncertain significance	748365843	RCV000188452\|RCV001255838;	N	MedGen:CN517202\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365071	50365071	NC_000019.9:g.50365071A>T	ClinGen:CA316493
NM_007254.4(PNKP):c.1231_1234del (p.Thr411fs)	11284	PNKP	Uncertain significance	886054583	RCV000358046;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365093	50365096	19:g.50365093_50365096del	ClinGen:CA10652699	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)	11284	PNKP	Pathogenic/Likely pathogenic	786205207	RCV000170438\|RCV000500375\|RCV001093540\|RCV001226527\|RCV001268911;	N	MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:CN517202	19	50365104	50365106	NC_000019.9:g.50365106_50365108del	ClinGen:CA199622,OMIM:605610.0007	C4225397 616267 Ataxia-oculomotor apraxia 4;
NM_007254.4(PNKP):c.1198G>C (p.Gly400Arg)	11284	PNKP	Uncertain significance	1568659304	RCV001132805;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365129	50365129	19:g.50365129C>G	-
NM_007254.4(PNKP):c.1189-10del	11284	PNKP	Benign/Likely benign	3739205	RCV000081503\|RCV000268050\|RCV000475072\|RCV000625157\|RCV001704003;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0200134,MedGen:C0543888\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900	19	50365148	50365148	19:g.50365148_50365148del	ClinGen:CA285668	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	11284	PNKP	Uncertain significance	772610025	RCV000174567\|RCV001212694\|RCV002492735;	N	MedGen:CN517202\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101	19	50365312	50365312	19:g.50365312G>A	ClinGen:CA240111	CN169374 not specified;
NM_007254.4(PNKP):c.1158C>G (p.Leu386=)	11284	PNKP	Conflicting interpretations of pathogenicity	373766090	RCV000436793\|RCV001132806\|RCV002521713;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365331	50365331	19:g.50365331G>C	ClinGen:CA9586569	CN169374 not specified;
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr)	11284	PNKP	Uncertain significance	1600416892	RCV001004870;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365356	50365356	19:g.50365356T>G	-
NM_007254.4(PNKP):c.1127-8C>T	11284	PNKP	Benign	3739203	RCV000081502\|RCV000606811\|RCV000710179\|RCV001080233;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365370	50365370	19:g.50365370G>A	ClinGen:CA285667	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1126+15C>T	11284	PNKP	Conflicting interpretations of pathogenicity	748643212	RCV001132807\|RCV002070549;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365427	50365427	19:g.50365427G>A	-
NM_007254.4(PNKP):c.1126+9C>T	11284	PNKP	Conflicting interpretations of pathogenicity	3739202	RCV000127487\|RCV000147344\|RCV000648438;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365433	50365433	NC_000019.9:g.50365433G>A	ClinGen:CA251142	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1126+5G>A	11284	PNKP	Uncertain significance	1385764453	RCV001132808;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365437	50365437	19:g.50365437C>T	-
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)	11284	PNKP	Pathogenic	786203983	RCV000167523\|RCV000648410\|RCV000623823\|RCV001268912\|RCV001813762;	N	MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365445	50365445	NC_000019.9:g.50365445C>A	ClinGen:CA198504,UniProtKB:Q96T60#VAR_073369,OMIM:605610.0005	C4225397 616267 Ataxia-oculomotor apraxia 4;
NM_007254.4(PNKP):c.1029+2T>C	11284	PNKP	Conflicting interpretations of pathogenicity	199919568	RCV000188445\|RCV000502586\|RCV001085813\|RCV001196449\|RCV001449753\|RCV002274937\|RCV002381633\|RCV003224209\|RCV003447514;	N	MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002060,MedGen:C402	19	50365626	50365626	NC_000019.9:g.50365626A>G	ClinGen:CA316482	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)	11284	PNKP	Uncertain significance	768567927	RCV000188443\|RCV000765463;	N	MedGen:CN517202\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033	19	50365654	50365654	NC_000019.9:g.50365654C>A	ClinGen:CA316478
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)	11284	PNKP	Uncertain significance	768567927	RCV000706956\|RCV000765464;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365654	50365654	19:g.50365654C>T	-	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)	11284	PNKP	Conflicting interpretations of pathogenicity	373922574	RCV000147375\|RCV000227478\|RCV000726751\|RCV002381454;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50365663	50365663	19:g.50365663G>A	ClinGen:CA251169	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys)	11284	PNKP	Pathogenic	267606956	RCV000005119\|RCV000188441\|RCV001813953\|RCV002512794;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552\|MONDO:MONDO:0013389,MedGen:C315	19	50365681	50365681	NC_000019.9:g.50365681C>T	ClinGen:CA250516,UniProtKB:Q96T60#VAR_063836,OMIM:605610.0001
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)	11284	PNKP	Conflicting interpretations of pathogenicity	372148913	RCV000147374\|RCV000724557\|RCV001055727\|RCV002371985\|RCV003387771;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN517202\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033	19	50365689	50365689	19:g.50365689G>A	ClinGen:CA251167	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.939T>C (p.Phe313=)	11284	PNKP	Benign/Likely benign	149731642	RCV000173026\|RCV000232639\|RCV000613827\|RCV001080500\|RCV002316392;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50365718	50365718	NC_000019.9:g.50365718A>G	ClinGen:CA302670	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	11284	PNKP	Conflicting interpretations of pathogenicity	201503405	RCV000278500\|RCV000515347\|RCV000723674\|RCV001087225\|RCV002371929;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|M	19	50365830	50365830	19:g.50365830G>A	ClinGen:CA223025	C4225397 616267 Ataxia-oculomotor apraxia 4;
NM_007254.4(PNKP):c.876A>G (p.Gly292=)	11284	PNKP	Conflicting interpretations of pathogenicity	3739199	RCV000147372\|RCV000173827\|RCV000457894\|RCV002371968;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50365855	50365855	NC_000019.9:g.50365855T>C	ClinGen:CA251165	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.865+1G>A	11284	PNKP	Likely pathogenic	762003634	RCV001992260\|RCV002625406\|RCV003339880;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365946	50365946	50365946	-
NM_007254.4(PNKP):c.861G>C (p.Val287=)	11284	PNKP	Conflicting interpretations of pathogenicity	75203375	RCV000147371\|RCV000362660\|RCV001085320;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365951	50365951	19:g.50365951C>G	ClinGen:CA251163	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.831G>A (p.Thr277=)	11284	PNKP	Conflicting interpretations of pathogenicity	148491228	RCV000147370\|RCV000229790\|RCV000319452\|RCV001171811\|RCV002313784;	N	MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50365981	50365981	19:g.50365981C>T	ClinGen:CA223021	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.829dup (p.Thr277fs)	11284	PNKP	Likely pathogenic	-1	RCV001255835;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50365982	50365983	19:g.50365982_50365983insT	-
NM_007254.4(PNKP):c.822C>T (p.Asn274=)	11284	PNKP	Conflicting interpretations of pathogenicity	780677866	RCV000866362\|RCV001136200\|RCV001397010;	N	MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50365990	50365990	19:g.50365990G>A	-
NM_007254.4(PNKP):c.783G>A (p.Pro261=)	11284	PNKP	Benign/Likely benign	145307985	RCV000147368\|RCV000468396\|RCV000625158\|RCV001084969\|RCV002312586;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50366979	50366979	NC_000019.9:g.50366979C>T	ClinGen:CA295151	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp)	11284	PNKP	Uncertain significance	368301643	RCV001035729\|RCV003339432;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50366987	50366987	19:g.50366987G>A	-
NM_007254.4(PNKP):c.744+8T>C	11284	PNKP	Uncertain significance	587784370	RCV000147367;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50367213	50367213	19:g.50367213A>G	ClinGen:CA251162	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)	11284	PNKP	Pathogenic/Likely pathogenic	982113263	RCV002497869\|RCV002037963;	N	MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50367244	50367244	50367244	-
NM_007254.4(PNKP):c.678G>A (p.Lys226=)	11284	PNKP	Conflicting interpretations of pathogenicity	141969535	RCV000440874\|RCV000459099\|RCV001136201\|RCV001531902\|RCV002365476;	N	MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50367287	50367287	19:g.50367287C>T	ClinGen:CA9586830	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)	11284	PNKP	Conflicting interpretations of pathogenicity	144257114	RCV000725908\|RCV001136202\|RCV001406955\|RCV002314737;	N	MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50367292	50367292	NC_000019.9:g.50367292C>T	ClinGen:CA316464	CN169374 not specified;
NM_007254.4(PNKP):c.672C>T (p.Arg224=)	11284	PNKP	Conflicting interpretations of pathogenicity	151180981	RCV000127479\|RCV000604005\|RCV000725343\|RCV001083299\|RCV002312585;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50367293	50367293	NC_000019.9:g.50367293G>A	ClinGen:CA292796	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.671G>A (p.Arg224His)	11284	PNKP	Uncertain significance	199705876	RCV000147366\|RCV000188478\|RCV000470510\|RCV002362781;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50367294	50367294	19:g.50367294C>T	ClinGen:CA251160	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.666C>T (p.Ile222=)	11284	PNKP	Conflicting interpretations of pathogenicity	587784369	RCV000147365\|RCV000439944\|RCV001437148\|RCV003415982;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900	19	50367299	50367299	19:g.50367299G>A	ClinGen:CA251158	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)	11284	PNKP	Conflicting interpretations of pathogenicity	115259839	RCV000724589\|RCV001079223\|RCV001136203\|RCV002317059\|RCV003398901;	N	MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	19	50367315	50367315	19:g.50367315G>C	ClinGen:CA247260	CN169374 not specified;
NM_007254.4(PNKP):c.636+7G>A	11284	PNKP	Benign/Likely benign	3739187	RCV000147364\|RCV000226796\|RCV000293722\|RCV002498628;	N	MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; M	19	50367429	50367429	NC_000019.9:g.50367429C>T	ClinGen:CA295150	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.636+1G>T	11284	PNKP	Pathogenic/Likely pathogenic	1247055716	RCV000502084\|RCV001376960\|RCV001328605;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101	19	50367435	50367435	NC_000019.9:g.50367435C>A	ClinGen:CA406886579	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.627G>A (p.Glu209=)	11284	PNKP	Conflicting interpretations of pathogenicity	532550120	RCV000194932\|RCV000348632\|RCV000726771\|RCV001088141\|RCV002314842;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50367445	50367445	NC_000019.9:g.50367445C>T	ClinGen:CA209423	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)	11284	PNKP	Uncertain significance	773641701	RCV000179469\|RCV000232964\|RCV002485174\|RCV002516792;	N	MedGen:CN517202\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033	19	50367447	50367447	19:g.50367447C>T	ClinGen:CA246726	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)	11284	PNKP	Benign/Likely benign	3739186	RCV000147363\|RCV000402812\|RCV000513960\|RCV001081044\|RCV002312584;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50367486	50367486	NC_000019.9:g.50367486A>T	ClinGen:CA295148,UniProtKB:Q96T60#VAR_019263	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.579G>A (p.Arg193=)	11284	PNKP	Benign/Likely benign	145904995	RCV000173036\|RCV000289366\|RCV000464840\|RCV001084377\|RCV002311644\|RCV002490714;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101; MONDO:MONDO:001455	19	50367493	50367493	19:g.50367493C>T	ClinGen:CA302680	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.579-4G>A	11284	PNKP	Conflicting interpretations of pathogenicity	371834726	RCV000147361\|RCV000415969\|RCV001087412;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50367497	50367497	19:g.50367497C>T	ClinGen:CA251157	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.579-5C>T	11284	PNKP	Conflicting interpretations of pathogenicity	767753048	RCV000344409\|RCV000544431;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50367498	50367498	19:g.50367498G>A	ClinGen:CA9586883	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	11284	PNKP	Benign/Likely benign	3739185	RCV000081509\|RCV000514942\|RCV000625159\|RCV001082584\|RCV002311643\|RCV002504997;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101; MONDO:MONDO:001455	19	50367621	50367621	19:g.50367621G>T	ClinGen:CA285669,UniProtKB:Q96T60#VAR_019262	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe)	11284	PNKP	Pathogenic	267606957	RCV000005121;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50367633	50367633	19:g.50367633G>A	ClinGen:CA250517,UniProtKB:Q96T60#VAR_063835,OMIM:605610.0003	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.519C>T (p.Asp173=)	11284	PNKP	Conflicting interpretations of pathogenicity	144284975	RCV000127475\|RCV000726220\|RCV001129245\|RCV001080581\|RCV002312583;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50367640	50367640	NC_000019.9:g.50367640G>A	ClinGen:CA292794	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.499-7A>C	11284	PNKP	Likely benign	909512959	RCV000919643\|RCV002502792;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033	19	50367667	50367667	19:g.50367667T>G	-
NM_007254.4(PNKP):c.498+23A>T	11284	PNKP	Benign	1290649	RCV000147360\|RCV000829947\|RCV001789203\|RCV001789202\|RCV001789201;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101	19	50368361	50368361	NC_000019.9:g.50368361T>A	ClinGen:CA173307	CN169374 not specified;
NM_007254.4(PNKP):c.498G>A (p.Lys166=)	11284	PNKP	Uncertain significance	141251138	RCV000193237\|RCV000472478\|RCV001262429;	N	MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50368384	50368384	NC_000019.9:g.50368384C>T	ClinGen:CA206581	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.457T>C (p.Leu153=)	11284	PNKP	Uncertain significance	587784368	RCV000147359;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50368425	50368425	19:g.50368425A>G	ClinGen:CA251155	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.416G>A (p.Arg139His)	11284	PNKP	Conflicting interpretations of pathogenicity	34472250	RCV000147358\|RCV000433486\|RCV000515248\|RCV001086537\|RCV001815201\|RCV002312656\|RCV003224167;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|M	19	50368466	50368466	19:g.50368466C>T	ClinGen:CA234706	C4225397 616267 Ataxia-oculomotor apraxia 4;
NM_007254.4(PNKP):c.356C>A (p.Pro119Gln)	11284	PNKP	Uncertain significance	1477930328	RCV001823601;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50368526	50368526	50368526	-
NM_007254.4(PNKP):c.311T>C (p.Leu104Pro)	11284	PNKP	Uncertain significance	1159790949	RCV001270026;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50368571	50368571	19:g.50368571A>G	-
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	11284	PNKP	Conflicting interpretations of pathogenicity	587784367	RCV000147357\|RCV000178285\|RCV002433634;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50368580	50368580	19:g.50368580G>A	ClinGen:CA245334	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)	11284	PNKP	Uncertain significance	140290151	RCV000178284\|RCV000810387\|RCV001129246\|RCV002433778\|RCV002485165;	N	MedGen:C3661900\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0011570,MedGen:C1854150,	19	50368592	50368592	NC_000019.9:g.50368592T>C	ClinGen:CA245332	CN169374 not specified;
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)	11284	PNKP	Uncertain significance	-1	RCV001255767\|RCV002436976;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123	19	50368596	50368596	19:g.50368596C>G	-
NM_007254.4(PNKP):c.264G>T (p.Gly88=)	11284	PNKP	Conflicting interpretations of pathogenicity	766589333	RCV001047949\|RCV001129247\|RCV001544976;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:C3661900	19	50368618	50368618	19:g.50368618C>A	-
NM_007254.4(PNKP):c.199-15C>T	11284	PNKP	Conflicting interpretations of pathogenicity	201254691	RCV000439026\|RCV001129248\|RCV002521683;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50368698	50368698	19:g.50368698G>A	ClinGen:CA9586999	CN169374 not specified;
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	11284	PNKP	Conflicting interpretations of pathogenicity	3739173	RCV000147356\|RCV000466098\|RCV000726472\|RCV002312973;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50369666	50369666	19:g.50369666G>A	ClinGen:CA251153,UniProtKB:Q96T60#VAR_019261	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.151+18T>G	11284	PNKP	Conflicting interpretations of pathogenicity	55756709	RCV000147353\|RCV000188408\|RCV002055923;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MedGen:CN169374\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50370293	50370293	19:g.50370293A>C	ClinGen:CA251150	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.151G>C (p.Val51Leu)	11284	PNKP	Uncertain significance	753839317	RCV001262430;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370311	50370311	19:g.50370311C>G	-
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)	11284	PNKP	Uncertain significance	1568663138	RCV000689107\|RCV000765465;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033	19	50370331	50370331	NC_000019.9:g.50370331C>T	-	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.109C>G (p.Pro37Ala)	11284	PNKP	Uncertain significance	536541839	RCV000403129;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370353	50370353	19:g.50370353G>C	ClinGen:CA10643122	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu)	11284	PNKP	Uncertain significance	756589726	RCV000690672\|RCV001131941;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370355	50370355	NC_000019.9:g.50370355C>T	-	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)	11284	PNKP	Likely pathogenic	-1	RCV001255766;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370359	50370359	19:g.50370359T>C	-
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)	11284	PNKP	Benign/Likely benign	3739168	RCV000081512\|RCV000230285\|RCV000625160\|RCV001081799\|RCV002311645;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MeSH:D030342,MedGen:C0950123	19	50370404	50370404	19:g.50370404G>A	ClinGen:CA285671,UniProtKB:Q96T60#VAR_019260	C3150667 613402 Early infantile epileptic encephalopathy 10;
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)	11284	PNKP	Uncertain significance	3739168	RCV000533660\|RCV001770464\|RCV002483467;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:CN517202\|MONDO:MONDO:0011570,MedGen:C1854150,OMIM:605589, Orphanet:101101; MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267, Orphanet:459033; MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370404	50370404	NC_000019.9:g.50370404G>T	ClinGen:CA9587091	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.56C>T (p.Ala19Val)	11284	PNKP	Conflicting interpretations of pathogenicity	201258910	RCV001297579\|RCV001568021\|RCV001131942\|RCV002313678;	N	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MeSH:D030342,MedGen:C0950123	19	50370406	50370406	NC_000019.9:g.50370406G>A	-
NM_007254.4(PNKP):c.42C>T (p.Ser14=)	11284	PNKP	Conflicting interpretations of pathogenicity	751327913	RCV001131943\|RCV001437272;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	19	50370420	50370420	19:g.50370420G>A	-
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)	11284	PNKP	Uncertain significance	201221600	RCV000188465\|RCV000309427\|RCV000456764\|RCV000766601\|RCV002415813;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934\|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	50370443	50370443	19:g.50370443G>A	ClinGen:CA316519	C3150988 613722 Early infantile epileptic encephalopathy 12;
NM_007254.4(PNKP):c.-21G>C	11284	PNKP	Uncertain significance	893501652	RCV001131944;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370733	50370733	19:g.50370733C>G	-
NM_007254.4(PNKP):c.-35T>C	11284	PNKP	Conflicting interpretations of pathogenicity	550311179	RCV000188413\|RCV001131945;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370747	50370747	NC_000019.9:g.50370747A>G	ClinGen:CA316431	CN169374 not specified;
NM_007254.4(PNKP):c.-50G>C	11284	PNKP	Benign/Likely benign	3739166	RCV000127483\|RCV000359461;	N	MedGen:CN169374\|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370762	50370762	NC_000019.9:g.50370762C>G	ClinGen:CA292799	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.-74G>A	11284	PNKP	Uncertain significance	886054584	RCV000394698;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370786	50370786	19:g.50370786C>T	ClinGen:CA10652702	C0543888 Epileptic encephalopathy;
NM_007254.4(PNKP):c.-90G>A	11284	PNKP	Uncertain significance	142120097	RCV001132898;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370802	50370802	19:g.50370802C>T	-
NM_007254.4(PNKP):c.-105G>A	11284	PNKP	Uncertain significance	886054585	RCV000305862;	N	MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402, Orphanet:1934	19	50370817	50370817	19:g.50370817C>T	ClinGen:CA10652704	C0543888 Epileptic encephalopathy;

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