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Gene: PURA (purine rich element binding protein A) Homo sapiens

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Symbol:

PURA

Name:

purine rich element binding protein A

RGD ID:

1318376

HGNC Page

HGNC:9701

Description:

Enables double-stranded telomeric DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. Implicated in autosomal dominant intellectual developmental disorder 31.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

MRD31; NEDRIHF; PUR-ALPHA; PUR1; PURALPHA; purine-rich element binding protein A; purine-rich single-stranded DNA-binding protein alpha; transcriptional activator protein Pur-alpha

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	140,114,109 - 140,125,619 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	140,107,777 - 140,125,619 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	139,493,694 - 139,505,204 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	139,473,892 - 139,476,505 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	139,473,891 - 139,475,030	NCBI
Celera	5	135,569,524 - 135,572,137 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	134,636,880 - 134,642,173 (+)	NCBI		HuRef
CHM1_1	5	138,926,813 - 138,932,106 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	140,639,205 - 140,650,714 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	Apnea		IAGP	RGD:14698072	8554872	ClinVar Annotator: match by term: Apnea	ClinVar	PMID:25741868
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:10046804	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:27148565\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:126737792\|RGD:127284417\|RGD:13213722\|RGD:13215030\|RGD:13216344\|RGD:13813281\|RGD:38596908	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:10046810	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:27148565
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13481765	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:26467025\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:405170369\|RGD:405171763\|RGD:405171822\|RGD:405173790\|RGD:405194326\|RGD:405212756\|RGD:405245957\|RGD:405250798\|RGD:405250877\|RGD:405251057\|RGD:405251727\|RGD:405252705\|RGD:405252746\|RGD:405252935\|RGD:405875521\|RGD:597846132\|RGD:597855013\|RGD:597862725\|RGD:597871890\|RGD:597874759\|RGD:597882664\|RGD:597886650\|RGD:597892924\|RGD:597893635\|RGD:597896166\|RGD:597898629\|RGD:597899363\|RGD:597905309\|RGD:597909853\|RGD:597915102\|RGD:597917511\|RGD:597919348\|RGD:597920679\|RGD:597929703\|RGD:597935158\|RGD:597936722\|RGD:597937621\|RGD:597939844\|RGD:597947166\|RGD:597952369\|RGD:597972181\|RGD:597974721	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:15181192\|RGD:15181197\|RGD:15190950\|RGD:152032692\|RGD:152034841\|RGD:152035804\|RGD:152037405\|RGD:152040382\|RGD:152046935\|RGD:152068027\|RGD:152072841\|RGD:152083305\|RGD:152083697\|RGD:152095528\|RGD:152103334\|RGD:152108119\|RGD:152111092\|RGD:152123931\|RGD:152138006\|RGD:152149597\|RGD:152155940\|RGD:152156149\|RGD:152158204\|RGD:152163210\|RGD:152166956\|RGD:152172024\|RGD:152172082\|RGD:152176117\|RGD:152981780\|RGD:155642048\|RGD:155671484\|RGD:155722177\|RGD:155724288\|RGD:155744446\|RGD:155748935\|RGD:155910344\|RGD:155932872\|RGD:155941577\|RGD:155959696\|RGD:155977773\|RGD:155980355\|RGD:155989893\|RGD:155998972\|RGD:156008499\|RGD:156008989\|RGD:156014674\|RGD:156021745\|RGD:156031677\|RGD:156036574\|RGD:156039954\|RGD:156050147\|RGD:156053603\|RGD:156063838\|RGD:156121995\|RGD:156138515\|RGD:156142424\|RGD:156165599\|RGD:156182988\|RGD:156191756\|RGD:156218516\|RGD:156221662\|RGD:156223583\|RGD:156239279\|RGD:156240156\|RGD:156240222\|RGD:156250242\|RGD:156278539\|RGD:156293060\|RGD:156311601\|RGD:156324663\|RGD:156329902\|RGD:156356167\|RGD:156445493\|RGD:25317620\|RGD:26889825\|RGD:26896099\|RGD:26903163\|RGD:26904030\|RGD:26913556\|RGD:26916136\|RGD:26916741\|RGD:38456645\|RGD:38460274\|RGD:38464634\|RGD:38470584\|RGD:38477825\|RGD:38479688\|RGD:38486769\|RGD:38490456\|RGD:38490908\|RGD:38491354\|RGD:402480100\|RGD:405101814\|RGD:405101895\|RGD:405102012\|RGD:405102299\|RGD:405102547\|RGD:405102682\|RGD:405102721\|RGD:405102723\|RGD:405102762\|RGD:405102767\|RGD:405102770\|RGD:405103100\|RGD:405103144\|RGD:405103182\|RGD:405103204\|RGD:405104219\|RGD:405104310\|RGD:405104693\|RGD:405104831\|RGD:405104919\|RGD:405107091\|RGD:405111198\|RGD:405111375\|RGD:405127244\|RGD:405146303\|RGD:405157872\|RGD:405159791\|RGD:405159866\|RGD:405160728\|RGD:405161310\|RGD:405167764	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:11633352\|RGD:13508847\|RGD:13517771\|RGD:13532132\|RGD:13784036\|RGD:13794388\|RGD:14698072\|RGD:14702686\|RGD:14979080\|RGD:15015222\|RGD:150524345\|RGD:150529779\|RGD:150547800\|RGD:150557122\|RGD:151350412\|RGD:151350530\|RGD:151728220\|RGD:151728558\|RGD:152977967\|RGD:153001067\|RGD:155266081\|RGD:155643484\|RGD:155643627\|RGD:155643640\|RGD:155800202\|RGD:155800242\|RGD:243050752\|RGD:243053638\|RGD:243057868\|RGD:329846580\|RGD:329848912\|RGD:38461582\|RGD:38596924\|RGD:401722852\|RGD:401940237\|RGD:401940265\|RGD:405004092\|RGD:405004939\|RGD:405261953\|RGD:405657262\|RGD:405706607\|RGD:405854582\|RGD:407475360\|RGD:408394475\|RGD:408394654\|RGD:596921982\|RGD:596927548	8554872	ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome \| ClinVar more ...	ClinVar	PMID:25741868
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:126751481\|RGD:127260193\|RGD:12907010\|RGD:14704965\|RGD:14719281\|RGD:152983302\|RGD:38492115\|RGD:38492117\|RGD:597852921\|RGD:9589583	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:12850319\|RGD:404996868	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532\|PMID:29097605
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:150520460	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:28492532\|PMID:34008892
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13509160	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:27148565\|PMID:28492532\|PMID:32337850
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:596926677	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:28448108\|PMID:29097605\|PMID:32427350
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:12894457\|RGD:150520464\|RGD:596926684	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES more ...	ClinVar	PMID:25741868\|PMID:28448108\|PMID:29097605
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13816766\|RGD:13817529\|RGD:38491480	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:12895576	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532\|PMID:30919572
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:156350906\|RGD:405102712	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:27148565\|PMID:28492532\|PMID:32337850
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:10046831\|RGD:11560186	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532\|PMID:29150892
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:11558293\|RGD:13508821\|RGD:150338571\|RGD:152983303\|RGD:152983304\|RGD:152983305\|RGD:21071394\|RGD:21071395\|RGD:21074843\|RGD:243056021\|RGD:38597131\|RGD:38598812\|RGD:40886372	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:153346031\|RGD:9589580	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES more ...	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:10046807\|RGD:126727369\|RGD:126735725\|RGD:126743363\|RGD:126752764\|RGD:126765716\|RGD:126768818\|RGD:126771682\|RGD:126772855\|RGD:126774290\|RGD:126918409\|RGD:127236502\|RGD:127239689\|RGD:127243171\|RGD:127253060\|RGD:127256556\|RGD:127257141\|RGD:127259493\|RGD:127268250\|RGD:127279656\|RGD:127279732\|RGD:127283206\|RGD:127290280\|RGD:127300227\|RGD:127304141\|RGD:127307071\|RGD:127311237\|RGD:127313383\|RGD:127316221\|RGD:127317109\|RGD:127318913\|RGD:127320501\|RGD:127321715\|RGD:127323729\|RGD:127326644\|RGD:127329334\|RGD:127334226\|RGD:12894340\|RGD:13473958\|RGD:13474148\|RGD:13479143\|RGD:13481765\|RGD:13487388\|RGD:13500297\|RGD:13504276\|RGD:13508923\|RGD:13624599\|RGD:13624601\|RGD:13624650\|RGD:13803542\|RGD:13804006\|RGD:13804999\|RGD:13810377\|RGD:13814064\|RGD:13815430\|RGD:13816034\|RGD:13818204\|RGD:13822080\|RGD:13822307\|RGD:13829162\|RGD:13829667\|RGD:13829873\|RGD:13829944\|RGD:13830508\|RGD:14707815\|RGD:14718742\|RGD:14720498\|RGD:14723290\|RGD:14732937\|RGD:14734184\|RGD:14734940\|RGD:14739080\|RGD:150428555\|RGD:150484176\|RGD:150521140\|RGD:150556754\|RGD:15102996\|RGD:15109433\|RGD:15109439\|RGD:15133473\|RGD:151355712\|RGD:15138237\|RGD:15138954\|RGD:15142328\|RGD:15144503\|RGD:15152354\|RGD:15163740\|RGD:151709547\|RGD:151710411\|RGD:151710859\|RGD:151720072\|RGD:151771160\|RGD:151780219\|RGD:151783120\|RGD:151789808\|RGD:151791307\|RGD:151792523\|RGD:151793944\|RGD:151795932\|RGD:151797420\|RGD:15180830\|RGD:15180834\|RGD:15180839\|RGD:15180843\|RGD:15180848\|RGD:15180852\|RGD:15180856\|RGD:15180859\|RGD:15180864\|RGD:15180868\|RGD:15180873\|RGD:15180878\|RGD:15180886\|RGD:15181130\|RGD:15181136\|RGD:15181140\|RGD:15181146\|RGD:15181151\|RGD:15181157\|RGD:15181161\|RGD:15181166\|RGD:15181170\|RGD:15181176\|RGD:15181182\|RGD:15181189\|RGD:15181192	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES more ...	ClinVar	PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13530266	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:12818205\|PMID:19846792\|PMID:25741868\|PMID:26744780\|PMID:28492532\|PMID:9461080
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:14706517	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:28492532\|PMID:28600779
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13822660	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25342064\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:156209197	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532\|PMID:32238909
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:26888741	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:28492532\|PMID:32238909
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13487257	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28492532\|PMID:33726816\|PMID:35118825
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:156441847	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:28492532\|PMID:29097605
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:26890420	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:23950017\|PMID:28492532\|PMID:29097605\|PMID:29619234
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:153346184	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:32089526
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:38476240	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:28492532\|PMID:29097605\|PMID:36376392
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13212289	8554872	ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532\|PMID:32581362
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:155796539	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:28448108\|PMID:29097605\|PMID:29150892
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:25327650	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741869
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:10046807\|RGD:126727369\|RGD:126735725\|RGD:126738801\|RGD:126743363\|RGD:126752764\|RGD:126765716\|RGD:126768818\|RGD:126771682\|RGD:126772855\|RGD:126774290\|RGD:126918409\|RGD:127236502\|RGD:127239689\|RGD:127243171\|RGD:127253060\|RGD:127256556\|RGD:127257141\|RGD:127259493\|RGD:127268250\|RGD:127279656\|RGD:127279732\|RGD:127283206\|RGD:127290280\|RGD:127300227\|RGD:127304141\|RGD:127307071\|RGD:127311237\|RGD:127313383\|RGD:127316221\|RGD:127317109\|RGD:127318913\|RGD:127320501\|RGD:127321715\|RGD:127323729\|RGD:127326644\|RGD:127329334\|RGD:127334226\|RGD:12894340\|RGD:13473958\|RGD:13474148\|RGD:13479143\|RGD:13487299\|RGD:13487388\|RGD:13500297\|RGD:13504276\|RGD:13508923\|RGD:13624599\|RGD:13624601\|RGD:13624650\|RGD:13803542\|RGD:13804006\|RGD:13804999\|RGD:13810377\|RGD:13814064\|RGD:13815430\|RGD:13816034\|RGD:13818204\|RGD:13822080\|RGD:13822307\|RGD:13829162\|RGD:13829667\|RGD:13829873\|RGD:13829944\|RGD:13830508\|RGD:14707815\|RGD:14718742\|RGD:14720498\|RGD:14723290\|RGD:14732937\|RGD:14734184\|RGD:14734940\|RGD:14739080\|RGD:150428555\|RGD:150484176\|RGD:150521140\|RGD:150556754\|RGD:15102996\|RGD:15109433\|RGD:15109439\|RGD:15133473\|RGD:151355712\|RGD:15138237\|RGD:15138954\|RGD:15142328\|RGD:15144503\|RGD:15152354\|RGD:15163740\|RGD:151709547\|RGD:151710411\|RGD:151710859\|RGD:151720072\|RGD:151771160\|RGD:151780219\|RGD:151783120\|RGD:151789808\|RGD:151791307\|RGD:151792523\|RGD:151793944\|RGD:151795932\|RGD:151797420\|RGD:15180830\|RGD:15180834\|RGD:15180839\|RGD:15180843\|RGD:15180848\|RGD:15180852\|RGD:15180856\|RGD:15180859\|RGD:15180864\|RGD:15180868\|RGD:15180873\|RGD:15180878\|RGD:15180886\|RGD:15181130\|RGD:15181136\|RGD:15181140\|RGD:15181146\|RGD:15181151\|RGD:15181157\|RGD:15181161\|RGD:15181166\|RGD:15181170\|RGD:15181176\|RGD:15181182\|RGD:15181189	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28492532
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:14396385	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25342064\|PMID:25741868\|PMID:27148565\|PMID:29097605
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:13608926	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:28448108
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:10042287	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25342064
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:38598116	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25741868\|PMID:32860008
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy		IAGP	RGD:10046810	8554872	ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease	ClinVar	PMID:24500651\|PMID:27148565
PURA	Human	Developmental Disabilities		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Developmental Disabilities		IAGP	RGD:9589509\|RGD:9589582\|RGD:9589584	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar
PURA	Human	Developmental Disabilities		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Developmental Disabilities		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Developmental Disabilities		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868
PURA	Human	Developmental Disabilities		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Developmental Disabilities		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098
PURA	Human	Developmental Disabilities		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	dystonia		IAGP	RGD:14698072	8554872	ClinVar Annotator: match by term: Limb dystonia	ClinVar	PMID:25741868
PURA	Human	epilepsy		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	epilepsy		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25741868
PURA	Human	epilepsy		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	epilepsy		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	epilepsy		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	epilepsy		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098
PURA	Human	epilepsy		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Epilepsy	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	familial adenomatous polyposis 1		IAGP	RGD:13487787	8554872	ClinVar Annotator: match by term: Familial adenomatous polyposis 1	ClinVar	PMID:17963004\|PMID:18487285\|PMID:19279422\|PMID:19409520\|PMID:20685668\|PMID:21643010\|PMID:28492532
PURA	Human	generalized epilepsy		IAGP	RGD:21404658	8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar	PMID:25741868\|PMID:32581362
PURA	Human	genetic disease		IAGP	RGD:10046804	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:27148565\|PMID:28492532
PURA	Human	genetic disease		IAGP	RGD:127257141\|RGD:127290280\|RGD:127311237\|RGD:13473958\|RGD:13479143\|RGD:13487299\|RGD:13500297\|RGD:13804999\|RGD:13815430\|RGD:13829162\|RGD:13829667\|RGD:13829873\|RGD:13829944\|RGD:13830508\|RGD:14739080\|RGD:15181151\|RGD:152108119\|RGD:152138006\|RGD:152158204\|RGD:152176117\|RGD:155724288\|RGD:405103182	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
PURA	Human	genetic disease		IAGP	RGD:13481765	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:26467025\|PMID:28492532
PURA	Human	genetic disease		IAGP	RGD:10401481\|RGD:10401579\|RGD:13531270\|RGD:13531982\|RGD:13532573\|RGD:155679459\|RGD:155741320\|RGD:156123458\|RGD:405658400\|RGD:405658403\|RGD:407473451\|RGD:40886625\|RGD:40886655\|RGD:40886755\|RGD:40887356\|RGD:40887501\|RGD:40887793\|RGD:597706398\|RGD:597706408	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
PURA	Human	genetic disease		IAGP	RGD:13213722	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28492532
PURA	Human	genetic disease		IAGP	RGD:13531249	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:29097605\|PMID:35211951
PURA	Human	genetic disease		IAGP	RGD:597706416	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:29097605
PURA	Human	genetic disease		IAGP	RGD:12894457\|RGD:150520464	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28448108\|PMID:29097605
PURA	Human	genetic disease		IAGP	RGD:13530266	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:12818205\|PMID:19846792\|PMID:25741868\|PMID:26744780\|PMID:28492532\|PMID:9461080
PURA	Human	genetic disease		IAGP	RGD:12907010	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	genetic disease		IAGP	RGD:13532132	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
PURA	Human	genetic disease		IAGP	RGD:11560186	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532\|PMID:29150892
PURA	Human	genetic disease		IAGP	RGD:13532428	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:19846792
PURA	Human	genetic disease		IAGP	RGD:40887535	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:27148565\|PMID:29150892\|PMID:29307761
PURA	Human	genetic disease		IAGP	RGD:40886598	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:19846792\|PMID:22614836
PURA	Human	glycogen storage disease III		IAGP	RGD:10046810	8554872	ClinVar Annotator: match by term: Forbes disease	ClinVar	PMID:12955720\|PMID:20301788\|PMID:27148565
PURA	Human	Hereditary Neoplastic Syndromes		IAGP	RGD:13487787	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:17963004\|PMID:18487285\|PMID:19279422\|PMID:19409520\|PMID:20685668\|PMID:21643010\|PMID:28492532
PURA	Human	intellectual disability		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	intellectual disability		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	intellectual disability		IAGP	RGD:13212289	8554872	ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:24033266\|PMID:25741868\|PMID:25741905\|PMID:28492532\|PMID:32581362
PURA	Human	intellectual disability		IAGP	RGD:14702686\|RGD:40814116\|RGD:9589581	8554872	ClinVar Annotator: match by term: Intellectual disability \| ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:25741868
PURA	Human	intellectual disability		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	intellectual disability		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Intellectual developmental disorder	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	intellectual disability		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Intellectual developmental disorder	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	intellectual disability		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:25439098
PURA	Human	intellectual disability		IAGP	RGD:13212289	8554872	ClinVar Annotator: match by term: intellectual disabilities	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532\|PMID:32581362
PURA	Human	Muscle Hypotonia		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Muscle Hypotonia		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Muscle Hypotonia		IAGP	RGD:14698072\|RGD:9589581	8554872	ClinVar Annotator: match by term: Generalized hypotonia \| ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25741868
PURA	Human	Muscle Hypotonia		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Muscle Hypotonia		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Muscle Hypotonia		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	Muscle Hypotonia		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098
PURA	Human	Nervous System Malformations		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Abnormality of the nervous system	ClinVar	PMID:25741868
PURA	Human	Neurodevelopmental Disorders		IAGP	RGD:14691263\|RGD:14698291	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	epilepsy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29942082
PURA	Human	Neurodevelopmental Disorders		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29942082

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	autosomal dominant intellectual developmental disorder 31		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	1,2-dichloroethane	decreases expression	ISO	RGD:1318377	6480464	ethylene dichloride results in decreased expression of PURA mRNA	CTD	PMID:28960355
PURA	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1318377	6480464	1,2-Dimethylhydrazine results in increased expression of PURA mRNA	CTD	PMID:22206623
PURA	Human	1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine	decreases expression	ISO	RGD:1318377	6480464	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in decreased expression of PURA mRNA	CTD	PMID:15329391
PURA	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:1318377	6480464	Ethinyl Estradiol results in increased expression of PURA mRNA	CTD	PMID:17942748
PURA	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	ISO	RGD:1318377	6480464	Dihydrotestosterone results in increased expression of PURA mRNA	CTD	PMID:17023530
PURA	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1318377	6480464	Tetrachlorodibenzodioxin affects the expression of PURA mRNA	CTD	PMID:24058054
PURA	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1308543	6480464	Tetrachlorodibenzodioxin results in decreased expression of PURA mRNA	CTD	PMID:21215274\|PMID:33387578
PURA	Human	3H-1,2-dithiole-3-thione	decreases expression	ISO	RGD:1308543	6480464	1,2-dithiol-3-thione results in decreased expression of PURA mRNA	CTD	PMID:19162173
PURA	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	RGD:1318377	6480464	4,4'-diaminodiphenylmethane results in decreased expression of PURA mRNA	CTD	PMID:18648102
PURA	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	RGD:1318377	6480464	bisphenol S results in decreased expression of PURA mRNA	CTD	PMID:39298647
PURA	Human	5-fluorouracil	affects expression	EXP		6480464	Fluorouracil affects the expression of PURA mRNA	CTD	PMID:16584549
PURA	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1308543	6480464	Propylthiouracil results in decreased expression of PURA mRNA	CTD	PMID:24780913\|PMID:30047161
PURA	Human	acetylsalicylic acid	increases expression	ISO	RGD:1308543	6480464	Aspirin results in increased expression of PURA mRNA	CTD	PMID:12800193
PURA	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of PURA gene	CTD	PMID:27153756
PURA	Human	amitrole	decreases expression	ISO	RGD:1308543	6480464	Amitrole results in decreased expression of PURA mRNA	CTD	PMID:30047161
PURA	Human	Aroclor 1254	decreases expression	ISO	RGD:1318377	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of PURA mRNA	CTD	PMID:23650126
PURA	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of PURA 3' UTR; Benzo(a)pyrene results in decreased methylation of more ...	CTD	PMID:27901495
PURA	Human	bisphenol A	increases methylation	EXP		6480464	bisphenol A results in increased methylation of PURA gene	CTD	PMID:22576693
PURA	Human	bisphenol A	decreases expression	ISO	RGD:1318377	6480464	bisphenol A results in decreased expression of PURA mRNA	CTD	PMID:33221593
PURA	Human	bisphenol A	affects methylation	ISO	RGD:1318377	6480464	bisphenol A affects the methylation of PURA promoter	CTD	PMID:27334623
PURA	Human	bisphenol A	increases expression	ISO	RGD:1308543	6480464	bisphenol A results in increased expression of PURA mRNA	CTD	PMID:25181051
PURA	Human	bisphenol A	multiple interactions	ISO	RGD:1308543	6480464	[Fructose co-treated with bisphenol A] results in increased expression of PURA protein	CTD	PMID:26930160
PURA	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of PURA mRNA	CTD	PMID:22576693
PURA	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of PURA protein	CTD	PMID:34186270
PURA	Human	Brodifacoum	increases expression	ISO	RGD:1308543	6480464	bromfenacoum results in increased expression of PURA protein	CTD	PMID:28903499
PURA	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of PURA mRNA	CTD	PMID:26079696
PURA	Human	butyric acid	increases expression	ISO	RGD:1308543	6480464	Butyric Acid results in increased expression of PURA mRNA	CTD	PMID:12800193
PURA	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of PURA mRNA	CTD	PMID:25979313
PURA	Human	celastrol	decreases expression	EXP		6480464	celastrol results in decreased expression of PURA mRNA	CTD	PMID:17010675
PURA	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of PURA mRNA	CTD	PMID:27392435
PURA	Human	copper(II) chloride	decreases expression	ISO	RGD:1318377	6480464	cupric chloride results in decreased expression of PURA protein	CTD	PMID:29617964
PURA	Human	cyclophosphamide	increases expression	ISO	RGD:1308543	6480464	Cyclophosphamide results in increased expression of PURA mRNA	CTD	PMID:11599041
PURA	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of PURA mRNA	CTD	PMID:25562108
PURA	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of PURA mRNA	CTD	PMID:29803840
PURA	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation more ...	CTD	PMID:23301498
PURA	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of PURA protein	CTD	PMID:37730182
PURA	Human	fructose	multiple interactions	ISO	RGD:1308543	6480464	[Fructose co-treated with bisphenol A] results in increased expression of PURA protein	CTD	PMID:26930160
PURA	Human	gedunin	decreases expression	EXP		6480464	gedunin results in decreased expression of PURA mRNA	CTD	PMID:17010675
PURA	Human	gentamycin	increases expression	ISO	RGD:1308543	6480464	Gentamicins results in increased expression of PURA mRNA	CTD	PMID:22061828
PURA	Human	haloperidol	increases expression	EXP		6480464	Haloperidol results in increased expression of PURA protein	CTD	PMID:34122009
PURA	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of PURA protein	CTD	PMID:32959892
PURA	Human	menadione	decreases expression	ISO	RGD:1318377	6480464	Vitamin K 3 results in decreased expression of PURA mRNA	CTD	PMID:25270620
PURA	Human	methapyrilene	decreases expression	ISO	RGD:1308543	6480464	Methapyrilene results in decreased expression of PURA mRNA	CTD	PMID:30467583
PURA	Human	methimazole	decreases expression	ISO	RGD:1308543	6480464	Methimazole results in decreased expression of PURA mRNA	CTD	PMID:30047161
PURA	Human	N-methyl-N'-nitro-N-nitrosoguanidine	multiple interactions	EXP		6480464	Methylnitronitrosoguanidine promotes the reaction [PURA protein binds to RRM2 promoter]; Methylnitronitrosoguanidine promotes the reaction [PURA more ...	CTD	PMID:26921499
PURA	Human	naphthalene	affects binding	ISO	RGD:1318377	6480464	naphthalene metabolite binds to PURA protein	CTD	PMID:15892573
PURA	Human	nickel dichloride	decreases expression	EXP		6480464	nickel chloride results in decreased expression of PURA mRNA	CTD	PMID:17312168
PURA	Human	paracetamol	decreases expression	ISO	RGD:1308543	6480464	Acetaminophen results in decreased expression of PURA mRNA	CTD	PMID:18246545
PURA	Human	phenobarbital	affects expression	ISO	RGD:1318377	6480464	Phenobarbital affects the expression of PURA mRNA	CTD	PMID:23091169
PURA	Human	pirinixic acid	decreases expression	ISO	RGD:1318377	6480464	pirinixic acid results in decreased expression of PURA mRNA	CTD	PMID:18445702
PURA	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	RGD:1308543	6480464	Pregnenolone Carbonitrile results in increased expression of PURA mRNA	CTD	PMID:19162173
PURA	Human	propiconazole	decreases expression	ISO	RGD:1318377	6480464	propiconazole results in decreased expression of PURA mRNA	CTD	PMID:21278054
PURA	Human	Propiverine	affects binding	ISO	RGD:1308543	6480464	propiverine binds to PURA protein	CTD	PMID:29273565
PURA	Human	sarin	affects expression	ISO	RGD:1308543	6480464	Sarin affects the expression of PURA protein	CTD	PMID:28973502
PURA	Human	silicon dioxide	decreases expression	ISO	RGD:1318377	6480464	Silicon Dioxide results in decreased expression of PURA mRNA	CTD	PMID:19073995
PURA	Human	sodium arsenite	decreases expression	ISO	RGD:1308543	6480464	sodium arsenite results in decreased expression of PURA protein	CTD	PMID:29459688
PURA	Human	sodium fluoride	decreases expression	ISO	RGD:1318377	6480464	Sodium Fluoride results in decreased expression of PURA protein	CTD	PMID:28918527
PURA	Human	Soman	decreases expression	ISO	RGD:1308543	6480464	Soman results in decreased expression of PURA mRNA	CTD	PMID:19281266
PURA	Human	titanium dioxide	affects expression	ISO	RGD:1318377	6480464	titanium dioxide affects the expression of PURA mRNA	CTD	PMID:17656681
PURA	Human	titanium dioxide	decreases methylation	ISO	RGD:1318377	6480464	titanium dioxide results in decreased methylation of PURA gene	CTD	PMID:35295148
PURA	Human	trichloroethene	increases expression	ISO	RGD:1318377	6480464	Trichloroethylene results in increased expression of PURA mRNA	CTD	PMID:19448997\|PMID:28973375
PURA	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of PURA mRNA	CTD	PMID:37042841
PURA	Human	troglitazone	decreases expression	ISO	RGD:1318377	6480464	troglitazone results in decreased expression of PURA mRNA	CTD	PMID:28973697
PURA	Human	valproic acid	increases expression	ISO	RGD:1318377	6480464	Valproic Acid results in increased expression of PURA mRNA	CTD	PMID:21427059
PURA	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of PURA mRNA	CTD	PMID:23179753\|PMID:26272509
PURA	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PURA mRNA	CTD	PMID:25979313
PURA	Human	zinc atom	decreases expression	EXP		6480464	Zinc deficiency results in decreased expression of PURA mRNA	CTD	PMID:12888634
PURA	Human	zinc(0)	decreases expression	EXP		6480464	Zinc deficiency results in decreased expression of PURA mRNA	CTD	PMID:12888634

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	cell population proliferation	acts_upstream_of	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	dendritic transport of messenger ribonucleoprotein complex	involved_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	DNA replication initiation	involved_in	TAS		150520179	PMID:1545807	PINC	PMID:1545807
PURA	Human	epithelial cell proliferation	acts_upstream_of_or_within	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	lymphocyte proliferation	acts_upstream_of_or_within	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	negative regulation of DNA-binding transcription factor activity	involved_in	ISO	RGD:1318377	9068941	PMID:10597240	UniProt	PMID:10597240
PURA	Human	negative regulation of DNA-templated transcription	acts_upstream_of_or_within	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	negative regulation of transcription by RNA polymerase II	involved_in	ISS	UniProtKB:P42669	150520179		BHF-UCL	GO_REF:0000024
PURA	Human	negative regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:26089202	UniProt	PMID:26089202
PURA	Human	negative regulation of transcription by RNA polymerase II	involved_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	negative regulation of translation	involved_in	IEA	GO:0000900	150520179		GOC	GO_REF:0000108
PURA	Human	nervous system development	acts_upstream_of_or_within	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	positive regulation of cell population proliferation	acts_upstream_of_or_within	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	regulation of transcription by RNA polymerase II	involved_in	IBA	MGI:103079\|MGI:1338779\|PANTHER:PTN000288943\|RGD:1559465\|UniProtKB:Q00577	150520179		GO_Central	GO_REF:0000033

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	chromosome, telomeric region	located_in	IC	GO:0003691	150520179	PMID:15777841	UniProt	PMID:15777841
PURA	Human	cytoplasm	located_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	dendrite	located_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	glutamatergic synapse	is_active_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	neuronal cell body	located_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	nucleus	is_active_in	ISS	UniProtKB:P42669	150520179		BHF-UCL	GO_REF:0000024
PURA	Human	nucleus	located_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
PURA	Human	nucleus	is_active_in	IBA	FB:FBgn0022361\|MGI:103079\|MGI:1338779\|PANTHER:PTN000288943\|RGD:1559465\|UniProtKB:Q00577\|UniProtKB:Q96QR8\|WB:WBGene00004046	150520179		GO_Central	GO_REF:0000033
PURA	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
PURA	Human	nucleus	located_in	IDA		150520179	PMID:9716182	UniProt	PMID:9716182
PURA	Human	nucleus	located_in	ISS	UniProtKB:Q00577	150520179		UniProt	GO_REF:0000024
PURA	Human	postsynapse	is_active_in	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	postsynaptic density	is_active_in	ISO	RGD:1308543	9068941	PMID:14532281	SynGO	PMID:14532281\|REF_RGD_ID:13702402

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	DNA binding	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
PURA	Human	DNA-binding transcription factor activity	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	MGI:103079\|MGI:1338779\|PANTHER:PTN000288943\|RGD:1559465	150520179		GO_Central	GO_REF:0000033
PURA	Human	DNA-binding transcription factor binding	enables	ISS	UniProtKB:P42669	150520179		UniProt	GO_REF:0000024
PURA	Human	DNA-binding transcription factor binding	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	DNA-binding transcription repressor activity, RNA polymerase II-specific	enables	ISS	UniProtKB:P42669	150520179		BHF-UCL	GO_REF:0000024
PURA	Human	DNA-binding transcription repressor activity, RNA polymerase II-specific	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	double-stranded DNA binding	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	double-stranded telomeric DNA binding	enables	ISS	UniProtKB:Q00577	150520179		UniProt	GO_REF:0000024
PURA	Human	double-stranded telomeric DNA binding	enables	IDA		150520179	PMID:15777841	UniProt	PMID:15777841
PURA	Human	mRNA regulatory element binding translation repressor activity	enables	ISS	UniProtKB:P42669	150520179		BHF-UCL	GO_REF:0000024
PURA	Human	mRNA regulatory element binding translation repressor activity	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	protein binding	enables	IPI	UniProtKB:P03070\|UniProtKB:P03072	150520179	PMID:9830007	IntAct	PMID:9830007
PURA	Human	protein binding	enables	IPI	UniProtKB:P03070\|UniProtKB:P06400	150520179	PMID:7592647	IntAct	PMID:7592647
PURA	Human	purine-rich negative regulatory element binding	enables	ISS	UniProtKB:P42669	150520179		BHF-UCL	GO_REF:0000024
PURA	Human	purine-rich negative regulatory element binding	enables	IBA	MGI:103079\|PANTHER:PTN000288943\|RGD:1559465	150520179		GO_Central	GO_REF:0000033
PURA	Human	purine-rich negative regulatory element binding	enables	IEA	InterPro:IPR006628	150520179		InterPro	GO_REF:0000002
PURA	Human	purine-rich negative regulatory element binding	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	RNA binding	enables	HDA		150520179	PMID:22658674, PMID:22681889	UniProt	PMID:22658674\|PMID:22681889
PURA	Human	RNA polymerase II transcription regulatory region sequence-specific DNA binding	enables	IEA	InterPro:IPR006628	150520179		InterPro	GO_REF:0000002
PURA	Human	RNA polymerase II transcription regulatory region sequence-specific DNA binding	enables	IBA	MGI:1338779\|PANTHER:PTN000288943	150520179		GO_Central	GO_REF:0000033
PURA	Human	single-stranded DNA binding	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	single-stranded DNA binding	enables	TAS		150520179	PMID:1448097	PINC	PMID:1448097
PURA	Human	single-stranded DNA binding	enables	ISS	UniProtKB:P42669	150520179		UniProt	GO_REF:0000024
PURA	Human	SMAD binding	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107
PURA	Human	transcription regulator inhibitor activity	enables	IEA	UniProtKB:P42669\|ensembl:ENSMUSP00000059404	150520179		Ensembl	GO_REF:0000107

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	Abnormal heart morphology		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Abnormal pinna morphology		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Abnormality of primary teeth		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Absent speech		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Anteverted nares		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216\|ORPHA:314655
PURA	Human	Anxiety		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Apnea		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Aspiration pneumonia		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Ataxia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Bilateral tonic-clonic seizure with generalized onset		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Brain atrophy		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Brain imaging abnormality		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Broad nasal tip		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Broad-based gait		IAGP		8699517		HPO	MIM:616158\|ORPHA:438216
PURA	Human	Childhood onset		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	CNS hypomyelination		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Deep philtrum		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Delayed CNS myelination		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Delayed myelination		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Delayed speech and language development		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Depressed nasal bridge		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Downslanted palpebral fissures		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Dyskinesia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Dystonia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	EEG abnormality		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Epicanthus		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Epileptic spasm		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Esotropia		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Exaggerated startle response		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Facial asymmetry		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Facial hypotonia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Feeding difficulties		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Feeding difficulties in infancy		IAGP		8699517		HPO	ORPHA:314655\|ORPHA:438216
PURA	Human	Focal tonic seizure		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Frontal bossing		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Full cheeks		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Global developmental delay		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216
PURA	Human	Handgrip myotonia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	High forehead		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	High palate		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216\|ORPHA:314655
PURA	Human	Hypotonia		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Hypoventilation		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Inability to walk		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Incisor macrodontia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Infantile onset		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Intellectual disability		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Intellectual disability, severe		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Long face		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Long palpebral fissure		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216
PURA	Human	Low-set ears		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Micrognathia		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Motor delay		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Myoclonus		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:314655
PURA	Human	Myopathic facies		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216
PURA	Human	Myopia		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Narrow forehead		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Neonatal hypotonia		IAGP		8699517		HPO	MIM:616158\|ORPHA:314655
PURA	Human	Neonatal onset		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Nystagmus		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Open mouth		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Polydactyly		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Prominent forehead		IAGP		8699517		HPO	MIM:616158\|ORPHA:438216
PURA	Human	Prominent metopic ridge		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Ptosis		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Recurrent pneumonia		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Respiratory distress		IAGP		8699517		HPO	ORPHA:314655\|ORPHA:438216
PURA	Human	Respiratory insufficiency		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Seizure		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216\|ORPHA:314655
PURA	Human	Severe global developmental delay		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Severe muscular hypotonia		IAGP		8699517		HPO	ORPHA:314655\|ORPHA:438216
PURA	Human	Short attention span		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Short nose		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Sparse lateral eyebrow		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Speech apraxia		IAGP		8699517		HPO	ORPHA:314655
PURA	Human	Strabismus		IAGP		8699517		HPO	MIM:616158\|PMID:25439098
PURA	Human	Telecanthus		IAGP		8699517		HPO	MIM:616158\|ORPHA:438216\|ORPHA:314655
PURA	Human	Tented upper lip vermilion		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216\|ORPHA:314655
PURA	Human	Thin upper lip vermilion		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Underdeveloped nasal alae		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216
PURA	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	ORPHA:438216
PURA	Human	Wide nasal bridge		IAGP		8699517		HPO	MIM:616158\|PMID:25439098\|ORPHA:438216

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PURA	Human	Abnormality of the nervous system		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Abnormality of the nervous system	ClinVar	PMID:25741868
PURA	Human	Apnea		IAGP	RGD:14698072	8554872	ClinVar Annotator: match by term: Apnoea	ClinVar	PMID:25741868
PURA	Human	Delayed speech and language development		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Delayed speech and language development	ClinVar	PMID:25439098
PURA	Human	Delayed speech and language development		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Delayed speech and language development	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Delayed speech and language development		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Delayed speech and language development	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Delayed speech and language development		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Delayed speech and language development	ClinVar	PMID:25741868
PURA	Human	Delayed speech and language development		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Delayed speech	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Delayed speech and language development		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Delayed speech	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Delayed speech and language development		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Delayed speech	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	Epileptic encephalopathy		IAGP	RGD:21404658	8554872	ClinVar Annotator: match by term: Epileptic encephalopathy	ClinVar	PMID:25741868\|PMID:32581362
PURA	Human	Generalized hypotonia		IAGP	RGD:14698072	8554872	ClinVar Annotator: match by term: Generalized muscular hypotonia	ClinVar	PMID:25741868
PURA	Human	Global developmental delay		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098
PURA	Human	Global developmental delay		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Global developmental delay		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Global developmental delay		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868
PURA	Human	Global developmental delay		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Retarded psychomotor development	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Global developmental delay		IAGP	RGD:9589584	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar
PURA	Human	Global developmental delay		IAGP	RGD:9589582	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar
PURA	Human	Global developmental delay		IAGP	RGD:9589509	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar
PURA	Human	Global developmental delay		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Retarded psychomotor development	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Global developmental delay		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Retarded psychomotor development	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	Intellectual disability		IAGP	RGD:13212289	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532\|PMID:32581362
PURA	Human	Intellectual disability		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Intellectual disability		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Intellectual disability		IAGP	RGD:40814116	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
PURA	Human	Intellectual disability		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
PURA	Human	Intellectual disability		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Mental-retardation	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Intellectual disability		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Mental-retardation	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	Intellectual disability		IAGP	RGD:14702686	8554872	ClinVar Annotator: match by term: Nonprogressive mental retardation	ClinVar	PMID:25741868
PURA	Human	Intellectual disability		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Mental-retardation	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Intellectual disability		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25439098
PURA	Human	Limb dystonia		IAGP	RGD:14698072	8554872	ClinVar Annotator: match by term: Limb dystonia	ClinVar	PMID:25741868
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Low muscle tone, in neonatal onset	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Neonatal hypotonia	ClinVar	PMID:25741868
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Low muscle tone, in neonatal onset	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Neonatal hypotonia		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Low muscle tone, in neonatal onset	ClinVar	PMID:25439098\|PMID:28448108
PURA	Human	Seizure		IAGP	RGD:9589578	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098
PURA	Human	Seizure		IAGP	RGD:9589583	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098\|PMID:28492532
PURA	Human	Seizure		IAGP	RGD:9589585	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:28492532
PURA	Human	Seizure		IAGP	RGD:9589577	8554872	ClinVar Annotator: match by term: Seizures	ClinVar	PMID:25439098\|PMID:25741868\|PMID:28448108\|PMID:32860008\|PMID:34008892
PURA	Human	Seizure		IAGP	RGD:9589581	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25741868
PURA	Human	Seizure		IAGP	RGD:9589580	8554872	ClinVar Annotator: match by term: Seizures	ClinVar	PMID:25439098\|PMID:25741868
PURA	Human	Seizure		IAGP	RGD:9589579	8554872	ClinVar Annotator: match by term: Seizures	ClinVar	PMID:25439098\|PMID:28448108

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1448097	PMID:1545807	PMID:7592647	PMID:7606931	PMID:7862639	PMID:8759014	PMID:8943069	PMID:9383706	PMID:9716182	PMID:9830007	PMID:10082537	PMID:10318844
PMID:10412036	PMID:10457364	PMID:10500218	PMID:10597240	PMID:10679817	PMID:10954586	PMID:11032728	PMID:11169743	PMID:11181995	PMID:11413364	PMID:11417483	PMID:11596104
PMID:11730934	PMID:11751932	PMID:11937543	PMID:12034829	PMID:12147688	PMID:12411317	PMID:12477932	PMID:12491158	PMID:12565890	PMID:12933792	PMID:12972605	PMID:15517862
PMID:15707957	PMID:15777841	PMID:16196087	PMID:16364241	PMID:16741963	PMID:17081983	PMID:17353931	PMID:17641060	PMID:17643375	PMID:17722108	PMID:18187620	PMID:18258596
PMID:18386260	PMID:18413735	PMID:18780968	PMID:18927497	PMID:19165527	PMID:19182532	PMID:19267365	PMID:20020773	PMID:20467437	PMID:21062477	PMID:21081503	PMID:21139048
PMID:21145461	PMID:21151833	PMID:21873635	PMID:21890473	PMID:21903422	PMID:22337293	PMID:22658674	PMID:22681889	PMID:22835829	PMID:22939629	PMID:23000965	PMID:23151878
PMID:23152365	PMID:23463506	PMID:24446247	PMID:24457600	PMID:24778252	PMID:24816145	PMID:24819879	PMID:24981860	PMID:25342064	PMID:25439098	PMID:25681748	PMID:25921289
PMID:26089202	PMID:26186194	PMID:26728149	PMID:26777405	PMID:26795593	PMID:26949251	PMID:27148565	PMID:27248496	PMID:27609421	PMID:27748283	PMID:28302793	PMID:28431233
PMID:28448108	PMID:28514442	PMID:28524877	PMID:28611215	PMID:28695742	PMID:28973437	PMID:28978906	PMID:29053956	PMID:29097605	PMID:29298432	PMID:29331416	PMID:29568061
PMID:29802200	PMID:29845934	PMID:29940778	PMID:30154076	PMID:30196744	PMID:30209976	PMID:30442762	PMID:30471916	PMID:30833792	PMID:30940648	PMID:31091453	PMID:31253590
PMID:31353912	PMID:31527615	PMID:31553912	PMID:31586073	PMID:31623628	PMID:31640799	PMID:31665637	PMID:31685992	PMID:31822558	PMID:32051553	PMID:32235678	PMID:32707033
PMID:32807901	PMID:32812023	PMID:32994395	PMID:33142842	PMID:33306668	PMID:33633953	PMID:33658012	PMID:33731348	PMID:33742100	PMID:33961781	PMID:34011540	PMID:34048709
PMID:34116881	PMID:34316702	PMID:34591612	PMID:34650049	PMID:34709727	PMID:34728620	PMID:34780058	PMID:35013218	PMID:35140242	PMID:35338135	PMID:35384245	PMID:35509820
PMID:35676246	PMID:35831314	PMID:35850772	PMID:35915203	PMID:35944360	PMID:35945453	PMID:36059274	PMID:36215168	PMID:36244648	PMID:36543142	PMID:36651277	PMID:36736316
PMID:36912080	PMID:37149929	PMID:37314180	PMID:37314216	PMID:37909329	PMID:38113892	PMID:38172120	PMID:38655849	PMID:38777099	PMID:39000020

PURA
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	140,114,109 - 140,125,619 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	140,107,777 - 140,125,619 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	139,493,694 - 139,505,204 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	139,473,892 - 139,476,505 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	139,473,891 - 139,475,030	NCBI
Celera	5	135,569,524 - 135,572,137 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	134,636,880 - 134,642,173 (+)	NCBI		HuRef
CHM1_1	5	138,926,813 - 138,932,106 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	140,639,205 - 140,650,714 (+)	NCBI		T2T-CHM13v2.0

Pura
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	36,413,614 - 36,434,575 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	36,414,150 - 36,425,588 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	36,280,560 - 36,292,535 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	36,281,097 - 36,292,535 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	36,440,816 - 36,447,899 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	36,407,136 - 36,414,223 (+)	NCBI		MGSCv36	mm8
Celera	18	36,723,061 - 36,744,137 (+)	NCBI		Celera
Cytogenetic Map	18	B2	NCBI

Pura
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	28,159,103 - 28,179,539 (+)	NCBI		GRCr8
mRatBN7.2	18	27,885,071 - 27,905,509 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	27,884,556 - 27,905,513 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	28,012,429 - 28,032,867 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	28,774,266 - 28,794,712 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	28,109,203 - 28,129,639 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	29,103,850 - 29,110,215 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	29,110,242 - 29,111,156 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	28,817,907 - 28,820,657 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	28,916,722 - 28,925,008 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	28,948,984 - 28,950,043 (+)	NCBI
Celera	18	27,615,341 - 27,621,754 (+)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

Pura
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955418	538,883 - 548,605 (-)	NCBI	ChiLan1.0	ChiLan1.0

PURA
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	135,367,844 - 135,434,934 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	133,507,397 - 133,566,974 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	135,541,865 - 135,610,526 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	141,659,224 - 141,727,870 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	141,659,224 - 141,727,870 (+)	Ensembl	panpan1.1		panPan2
PanPan1.1 Ensembl	5	141,598,580 - 141,599,762 (+)	Ensembl	panpan1.1		panPan2

PURA
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	35,325,630 - 35,345,366 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	35,330,902 - 35,332,835 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	32,434,696 - 32,449,319 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	35,787,240 - 35,801,863 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	35,787,255 - 35,788,223 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	32,839,467 - 32,854,084 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	33,706,906 - 33,721,528 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	34,457,817 - 34,472,443 (+)	NCBI		UU_Cfam_GSD_1.0

Pura
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	152,471,846 - 152,488,693 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936531	9,129,715 - 9,130,515 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936531	9,129,024 - 9,134,916 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PURA
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	141,884,155 - 141,886,330 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	141,877,775 - 141,899,259 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	147,793,990 - 147,813,506 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PURA
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	42,757,963 - 42,767,393 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	42,764,263 - 42,765,231 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	35,115,690 - 35,128,119 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pura
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624743	32,884,552 - 32,885,517 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624743	32,878,677 - 32,888,650 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PURA
501 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000548116]\|not provided [RCV001358641]	Chr5:140114296..140114319 [GRCh38] Chr5:139493881..139493904 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.321C>T (p.Ala107=)	single nucleotide variant	Inborn genetic diseases [RCV002316580]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000551575]\|not provided [RCV001637084]\|not specified [RCV005000206]	Chr5:140114502 [GRCh38] Chr5:139494087 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.487C>T (p.Gln163Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652454]\|not provided [RCV000523168]	Chr5:140114668 [GRCh38] Chr5:139494253 [GRCh37] Chr5:5q31.3	pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	copy number loss	See cases [RCV000052142]	Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_005859.5(PURA):c.496C>A (p.Arg166Ser)	single nucleotide variant	not provided [RCV000657967]	Chr5:140114677 [GRCh38] Chr5:139494262 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.812_814del (p.Phe271del)	deletion	Global developmental delay [RCV000144521]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149569]\|not provided [RCV000480536]	Chr5:140114991..140114993 [GRCh38] Chr5:139494576..139494578 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.556C>T (p.Gln186Ter)	single nucleotide variant	Global developmental delay [RCV000144523]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149571]	Chr5:140114737 [GRCh38] Chr5:139494322 [GRCh37] Chr5:5q31.3	pathogenic\|likely benign\|uncertain significance\|not provided
NM_005859.5(PURA):c.289A>G (p.Lys97Glu)	single nucleotide variant	Global developmental delay [RCV000144524]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149572]\|not provided [RCV005235041]	Chr5:140114470 [GRCh38] Chr5:139494055 [GRCh37] Chr5:5q31.3	pathogenic\|not provided
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)	single nucleotide variant	Global developmental delay [RCV000144525]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149573]	Chr5:140114480 [GRCh38] Chr5:139494065 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)	single nucleotide variant	Abnormality of the nervous system [RCV001814067]\|Global developmental delay [RCV000144526]\|PURA-related disorder [RCV003895015]\|not provided [RCV000440769]	Chr5:140114544 [GRCh38] Chr5:139494129 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)	single nucleotide variant	Global developmental delay [RCV000144527]\|not provided [RCV004797781]	Chr5:140114964 [GRCh38] Chr5:139494549 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.265G>C (p.Ala89Pro)	single nucleotide variant	Global developmental delay [RCV000144529]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003586143]\|not provided [RCV004721273]	Chr5:140114446 [GRCh38] Chr5:139494031 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)	deletion	Global developmental delay [RCV000144530]	Chr5:140114444..140114446 [GRCh38] Chr5:139494029..139494031 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)	single nucleotide variant	Global developmental delay [RCV000144531]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000656234]\|not provided [RCV001281647]	Chr5:140114777 [GRCh38] Chr5:139494362 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.307_308del (p.Ser103fs)	microsatellite	Global developmental delay [RCV000144522]\|PURA-related disorder [RCV004730882]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149570]	Chr5:140114483..140114484 [GRCh38] Chr5:139494068..139494069 [GRCh37] Chr5:5q31.3	pathogenic\|not provided
NM_005859.5(PURA):c.470T>A (p.Met157Lys)	single nucleotide variant	Global developmental delay [RCV000144528]	Chr5:140114651 [GRCh38] Chr5:139494236 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.927_940del (p.Thr310fs)	deletion	Inborn genetic diseases [RCV000190790]	Chr5:140115104..140115117 [GRCh38] Chr5:139494689..139494702 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005859.5(PURA):c.472G>T (p.Asp158Tyr)	single nucleotide variant	Inborn genetic diseases [RCV000190672]	Chr5:140114653 [GRCh38] Chr5:139494238 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.716del (p.Lys239fs)	deletion	not provided [RCV001310524]	Chr5:140114896 [GRCh38] Chr5:139494481 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.710C>T (p.Ser237Phe)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000256438]	Chr5:140114891 [GRCh38] Chr5:139494476 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)	single nucleotide variant	Inborn genetic diseases [RCV000622637]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000201221]	Chr5:140114744 [GRCh38] Chr5:139494329 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.4(PURA):c.683A>G (p.Asn228Ser)	single nucleotide variant	not provided [RCV000172930]	Chr5:140114864 [GRCh38] Chr5:139494449 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.4(PURA):c.796A>T (p.Lys266Ter)	single nucleotide variant	not provided [RCV000172931]	Chr5:140114977 [GRCh38] Chr5:139494562 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.1A>T (p.Met1Leu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001380050]	Chr5:140114182 [GRCh38] Chr5:139493767 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.305T>G (p.Leu102Arg)	single nucleotide variant	not provided [RCV000172933]	Chr5:140114486 [GRCh38] Chr5:139494071 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.4(PURA):c.768dupC (p.Ile257Hisfs)	duplication	not provided [RCV000172934]	Chr5:140114949 [GRCh38] Chr5:139494534 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000201223]\|not provided [RCV000172935]	Chr5:140114482..140114490 [GRCh38] Chr5:139494067..139494075 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005859.4(PURA):c.792G>A (p.Trp264Ter)	single nucleotide variant	not provided [RCV000172936]	Chr5:140114973 [GRCh38] Chr5:139494558 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.4(PURA):c.218T>C (p.Phe73Ser)	single nucleotide variant	not provided [RCV000172937]	Chr5:140114399 [GRCh38] Chr5:139493984 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.4_8del (p.Ala2fs)	deletion	not provided [RCV000172940]	Chr5:140114185..140114189 [GRCh38] Chr5:139493770..139493774 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.379dup (p.Ser127fs)	duplication	not provided [RCV000172941]	Chr5:140114559..140114560 [GRCh38] Chr5:139494144..139494145 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.745del (p.Glu248_Val249insTer)	deletion	not provided [RCV000172942]	Chr5:140114925 [GRCh38] Chr5:139494510 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.419G>C (p.Arg140Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001852104]\|not provided [RCV000172938]	Chr5:140114600 [GRCh38] Chr5:139494185 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	copy number gain	See cases [RCV000134725]	Chr5:137836682..140696361 [GRCh38] Chr5:137172371..140075946 [GRCh37] Chr5:137200270..140056130 [NCBI36] Chr5:5q31.2-31.3	pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	copy number gain	See cases [RCV000138808]	Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3	copy number gain	See cases [RCV000142806]	Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3	uncertain significance
NM_005859.5(PURA):c.616A>T (p.Ile206Phe)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000169738]	Chr5:140114797 [GRCh38] Chr5:139494382 [GRCh37] Chr5:5q31.3	pathogenic\|not provided
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	microsatellite	Inborn genetic diseases [RCV001266572]\|PURA Syndrome [RCV003335173]\|PURA-related disorder [RCV003937527]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000169739]\|not provided [RCV000172939]	Chr5:140114871..140114873 [GRCh38] Chr5:139494456..139494458 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|not provided
NM_005859.5(PURA):c.726_727del (p.Phe243fs)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000169737]	Chr5:140114905..140114906 [GRCh38] Chr5:139494490..139494491 [GRCh37] Chr5:5q31.3	pathogenic\|not provided
NM_005859.5(PURA):c.509_515del (p.Ile170fs)	deletion	not provided [RCV000239072]	Chr5:140114688..140114694 [GRCh38] Chr5:139494273..139494279 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.50del (p.Ser17fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000677701]\|not provided [RCV003222097]	Chr5:140114231 [GRCh38] Chr5:139493816 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.450C>G (p.Arg150=)	single nucleotide variant	Inborn genetic diseases [RCV002311875]\|PURA-related disorder [RCV004754473]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000525611]\|not provided [RCV001534929]	Chr5:140114631 [GRCh38] Chr5:139494216 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)	single nucleotide variant	Inborn genetic diseases [RCV002338813]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002518764]\|not provided [RCV000255890]	Chr5:140114639 [GRCh38] Chr5:139494224 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.618C>T (p.Ile206=)	single nucleotide variant	Inborn genetic diseases [RCV002358607]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000527954]	Chr5:140114799 [GRCh38] Chr5:139494384 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.116dup (p.Gly40fs)	duplication	PURA Syndrome [RCV001836642]\|not provided [RCV000333729]	Chr5:140114292..140114293 [GRCh38] Chr5:139493877..139493878 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.42_57del (p.Leu15fs)	deletion	not provided [RCV000366495]	Chr5:140114218..140114233 [GRCh38] Chr5:139493803..139493818 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.808_809del (p.Thr270fs)	microsatellite	not provided [RCV000375816]	Chr5:140114985..140114986 [GRCh38] Chr5:139494570..139494571 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.367C>T (p.Gln123Ter)	single nucleotide variant	not provided [RCV000376723]	Chr5:140114548 [GRCh38] Chr5:139494133 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.711dup (p.Asn238fs)	duplication	not provided [RCV000407792]	Chr5:140114890..140114891 [GRCh38] Chr5:139494475..139494476 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.658G>A (p.Glu220Lys)	single nucleotide variant	not provided [RCV002281270]	Chr5:140114839 [GRCh38] Chr5:139494424 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.83C>G (p.Ser28Ter)	single nucleotide variant	not provided [RCV003325344]	Chr5:140114264 [GRCh38] Chr5:139493849 [GRCh37] Chr5:5q31.3	likely pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
NM_005859.5(PURA):c.432A>C (p.Lys144Asn)	single nucleotide variant	not provided [RCV000523660]	Chr5:140114613 [GRCh38] Chr5:139494198 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.920C>T (p.Ala307Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000531782]	Chr5:140115101 [GRCh38] Chr5:139494686 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.163C>T (p.Gln55Ter)	single nucleotide variant	Inborn genetic diseases [RCV004669000]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001205527]\|not provided [RCV000489918]	Chr5:140114344 [GRCh38] Chr5:139493929 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.486C>G (p.Asn162Lys)	single nucleotide variant	not provided [RCV000490074]\|not specified [RCV002248714]	Chr5:140114667 [GRCh38] Chr5:139494252 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
NM_005859.5(PURA):c.692T>C (p.Phe231Ser)	single nucleotide variant	Inborn genetic diseases [RCV000624325]	Chr5:140114873 [GRCh38] Chr5:139494458 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs)	indel	not provided [RCV000522563]	Chr5:140114195..140114206 [GRCh38] Chr5:139493780..139493791 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.366_367dup (p.Gln123fs)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000578301]	Chr5:140114543..140114544 [GRCh38] Chr5:139494128..139494129 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.496C>T (p.Arg166Cys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000578340]	Chr5:140114677 [GRCh38] Chr5:139494262 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.325G>T (p.Glu109Ter)	single nucleotide variant	not provided [RCV000598880]	Chr5:140114506 [GRCh38] Chr5:139494091 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.543C>T (p.Gly181=)	single nucleotide variant	Inborn genetic diseases [RCV002316581]\|PURA-related disorder [RCV003980023]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000554212]\|not provided [RCV001637085]	Chr5:140114724 [GRCh38] Chr5:139494309 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.451G>T (p.Glu151Ter)	single nucleotide variant	not provided [RCV000599346]	Chr5:140114632 [GRCh38] Chr5:139494217 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.511C>G (p.Arg171Gly)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000590943]	Chr5:140114692 [GRCh38] Chr5:139494277 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|association
NM_005859.5(PURA):c.263T>C (p.Ile88Thr)	single nucleotide variant	not provided [RCV000523638]	Chr5:140114444 [GRCh38] Chr5:139494029 [GRCh37] Chr5:5q31.3	likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_005859.5(PURA):c.685A>T (p.Lys229Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005090888]\|not provided [RCV000445344]	Chr5:140114866 [GRCh38] Chr5:139494451 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.605T>C (p.Leu202Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000678909]	Chr5:140114786 [GRCh38] Chr5:139494371 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.704T>G (p.Val235Gly)	single nucleotide variant	not provided [RCV000431640]	Chr5:140114885 [GRCh38] Chr5:139494470 [GRCh37] Chr5:5q31.3	likely pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
NM_005859.5(PURA):c.779C>T (p.Pro260Leu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001342491]\|not provided [RCV000482417]	Chr5:140114960 [GRCh38] Chr5:139494545 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.307_308dup (p.Met104fs)	microsatellite	not provided [RCV000482998]	Chr5:140114482..140114483 [GRCh38] Chr5:139494067..139494068 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.677_678del (p.Val226fs)	microsatellite	Inborn genetic diseases [RCV001266981]\|Intellectual disability [RCV001257617]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001706645]\|not provided [RCV000483395]	Chr5:140114856..140114857 [GRCh38] Chr5:139494441..139494442 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.248del (p.Gly83fs)	deletion	not provided [RCV000483427]	Chr5:140114427 [GRCh38] Chr5:139494012 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.616_618del (p.Ile206del)	deletion	not provided [RCV000484488]	Chr5:140114795..140114797 [GRCh38] Chr5:139494380..139494382 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.264del (p.Ile88fs)	deletion	not provided [RCV000485132]	Chr5:140114445 [GRCh38] Chr5:139494030 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.173_174insT (p.Gln59fs)	insertion	not provided [RCV000479161]	Chr5:140114354..140114355 [GRCh38] Chr5:139493939..139493940 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.70C>G (p.Pro24Ala)	single nucleotide variant	not provided [RCV000479966]	Chr5:140114251 [GRCh38] Chr5:139493836 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.504_505delinsTT (p.Arg169Cys)	indel	not specified [RCV000501082]	Chr5:140114685..140114686 [GRCh38] Chr5:139494270..139494271 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.582G>T (p.Gly194=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652455]\|not specified [RCV000503646]	Chr5:140114763 [GRCh38] Chr5:139494348 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000703253]\|not provided [RCV001584217]\|not specified [RCV000502002]	Chr5:140114302..140114303 [GRCh38] Chr5:139493887..139493888 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)	microsatellite	Inborn genetic diseases [RCV002314875]\|PURA-related disorder [RCV003979898]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000536830]\|not provided [RCV001653862]\|not specified [RCV000504468]	Chr5:140114310..140114311 [GRCh38] Chr5:139493895..139493896 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005859.5(PURA):c.621C>T (p.Asp207=)	single nucleotide variant	Inborn genetic diseases [RCV002316444]\|PURA-related disorder [RCV003962398]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000538440]\|not provided [RCV001548719]\|not specified [RCV000500255]	Chr5:140114802 [GRCh38] Chr5:139494387 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.224T>C (p.Leu75Pro)	single nucleotide variant	not provided [RCV000498216]	Chr5:140114405 [GRCh38] Chr5:139493990 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.159dup (p.Leu54fs)	duplication	Intellectual disability [RCV001003590]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001035879]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV000616762]\|not provided [RCV000498606]	Chr5:140114334..140114335 [GRCh38] Chr5:139493919..139493920 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
NM_005859.5(PURA):c.1A>G (p.Met1Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001783082]\|not provided [RCV000579099]	Chr5:140114182 [GRCh38] Chr5:139493767 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005859.5(PURA):c.725dup (p.Phe243fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000578389]	Chr5:140114905..140114906 [GRCh38] Chr5:139494490..139494491 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.480G>A (p.Lys160=)	single nucleotide variant	Inborn genetic diseases [RCV002341457]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001419761]	Chr5:140114661 [GRCh38] Chr5:139494246 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.141C>T (p.Gly47=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000526381]\|not provided [RCV003437281]	Chr5:140114322 [GRCh38] Chr5:139493907 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.793G>A (p.Ala265Thr)	single nucleotide variant	not provided [RCV003318189]	Chr5:140114974 [GRCh38] Chr5:139494559 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)	single nucleotide variant	Inborn genetic diseases [RCV000622368]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003129945]	Chr5:140114486 [GRCh38] Chr5:139494071 [GRCh37] Chr5:5q31.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005859.5(PURA):c.153del (p.Leu54fs)	deletion	Inborn genetic diseases [RCV000623169]	Chr5:140114334 [GRCh38] Chr5:139493919 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.82T>C (p.Ser28Pro)	single nucleotide variant	Inborn genetic diseases [RCV000623948]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002491336]	Chr5:140114263 [GRCh38] Chr5:139493848 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.205C>T (p.Gln69Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000803739]\|not provided [RCV000578542]	Chr5:140114386 [GRCh38] Chr5:139493971 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.734G>C (p.Arg245Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000656235]	Chr5:140114915 [GRCh38] Chr5:139494500 [GRCh37] Chr5:5q31.3	pathogenic\|not provided
NM_005859.5(PURA):c.7_11del (p.Asp3fs)	deletion	Inborn genetic diseases [RCV000623804]	Chr5:140114186..140114190 [GRCh38] Chr5:139493771..139493775 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.43C>A (p.Leu15Met)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000685099]	Chr5:140114224 [GRCh38] Chr5:139493809 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	copy number loss	not provided [RCV000682600]	Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3	pathogenic
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)	deletion	Inborn genetic diseases [RCV002311990]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000699858]\|not provided [RCV001551072]	Chr5:140114287..140114295 [GRCh38] Chr5:139493872..139493880 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.127_141del (p.Ser43_Gly47del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000684960]\|not provided [RCV002469255]	Chr5:140114296..140114310 [GRCh38] Chr5:139493881..139493895 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000704255]	Chr5:140114674 [GRCh38] Chr5:139494259 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005859.5(PURA):c.110G>C (p.Gly37Ala)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000693552]\|not provided [RCV001771960]	Chr5:140114291 [GRCh38] Chr5:139493876 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.105_131del (p.Gly41_Gly49del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000706091]	Chr5:140114282..140114308 [GRCh38] Chr5:139493867..139493893 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.10C>T (p.Arg4Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000692544]\|not provided [RCV004760716]	Chr5:140114191 [GRCh38] Chr5:139493776 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.494_497dup (p.Phe167fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000697589]	Chr5:140114672..140114673 [GRCh38] Chr5:139494257..139494258 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.175C>T (p.Gln59Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000707077]\|not provided [RCV003238197]	Chr5:140114356 [GRCh38] Chr5:139493941 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.382dup (p.Gln128fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000702539]	Chr5:140114561..140114562 [GRCh38] Chr5:139494146..139494147 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.40G>C (p.Ala14Pro)	single nucleotide variant	Inborn genetic diseases [RCV002317918]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000691588]	Chr5:140114221 [GRCh38] Chr5:139493806 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4])	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000696781]\|not provided [RCV001672925]	Chr5:140114253..140114254 [GRCh38] Chr5:139493838..139493839 [GRCh37] Chr5:5q31.3	benign\|likely benign\|uncertain significance
NM_005859.5(PURA):c.634G>C (p.Glu212Gln)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000697064]	Chr5:140114815 [GRCh38] Chr5:139494400 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.73G>A (p.Gly25Ser)	single nucleotide variant	Inborn genetic diseases [RCV002314587]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002534552]	Chr5:140114254 [GRCh38] Chr5:139493839 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.105T>C (p.Gly35=)	single nucleotide variant	Inborn genetic diseases [RCV002318736]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001393249]	Chr5:140114286 [GRCh38] Chr5:139493871 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.240C>T (p.Asn80=)	single nucleotide variant	Inborn genetic diseases [RCV002317977]\|PURA-related disorder [RCV004754540]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000882371]	Chr5:140114421 [GRCh38] Chr5:139494006 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.421C>A (p.Arg141=)	single nucleotide variant	Inborn genetic diseases [RCV002317626]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003748270]	Chr5:140114602 [GRCh38] Chr5:139494187 [GRCh37] Chr5:5q31.3	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_005859.5(PURA):c.804A>C (p.Gly268=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001495712]	Chr5:140114985 [GRCh38] Chr5:139494570 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.407_420dup (p.Ala142fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000761338]	Chr5:140114583..140114584 [GRCh38] Chr5:139494168..139494169 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001306045]\|not provided [RCV000762167]	Chr5:140114311..140114316 [GRCh38] Chr5:139493896..139493901 [GRCh37] Chr5:5q31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_005859.5(PURA):c.696C>T (p.Phe232=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000982554]	Chr5:140114877 [GRCh38] Chr5:139494462 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.426G>A (p.Ala142=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001495814]	Chr5:140114607 [GRCh38] Chr5:139494192 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.525C>T (p.Asn175=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002066035]	Chr5:140114706 [GRCh38] Chr5:139494291 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.615C>T (p.Leu205=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001500572]	Chr5:140114796 [GRCh38] Chr5:139494381 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.312del (p.Met104fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000799344]	Chr5:140114493 [GRCh38] Chr5:139494078 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.265G>A (p.Ala89Thr)	single nucleotide variant	Neurodevelopmental disorder [RCV000782038]\|not provided [RCV004760783]	Chr5:140114446 [GRCh38] Chr5:139494031 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.492C>T (p.Arg164=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002540196]	Chr5:140114673 [GRCh38] Chr5:139494258 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.390G>A (p.Pro130=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000920521]	Chr5:140114571 [GRCh38] Chr5:139494156 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.390G>C (p.Pro130=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000945866]	Chr5:140114571 [GRCh38] Chr5:139494156 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.369G>A (p.Gln123=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000960699]	Chr5:140114550 [GRCh38] Chr5:139494135 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.300T>G (p.Leu100=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951838]	Chr5:140114481 [GRCh38] Chr5:139494066 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.303T>G (p.Thr101=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951839]	Chr5:140114484 [GRCh38] Chr5:139494069 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.315A>G (p.Ser105=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951840]	Chr5:140114496 [GRCh38] Chr5:139494081 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.321C>G (p.Ala107=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951841]	Chr5:140114502 [GRCh38] Chr5:139494087 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.375C>G (p.Gly125=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951842]	Chr5:140114556 [GRCh38] Chr5:139494141 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.387G>C (p.Pro129=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951843]	Chr5:140114568 [GRCh38] Chr5:139494153 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.399C>G (p.Ala133=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951844]	Chr5:140114580 [GRCh38] Chr5:139494165 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.495C>G (p.Gly165=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951847]	Chr5:140114676 [GRCh38] Chr5:139494261 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.537C>G (p.Gly179=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951905]	Chr5:140114718 [GRCh38] Chr5:139494303 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.573C>G (p.Pro191=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951907]	Chr5:140114754 [GRCh38] Chr5:139494339 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.585C>G (p.Leu195=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951908]	Chr5:140114766 [GRCh38] Chr5:139494351 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.597T>C (p.Arg199=)	single nucleotide variant	Inborn genetic diseases [RCV002354852]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951909]	Chr5:140114778 [GRCh38] Chr5:139494363 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.759T>C (p.Tyr253=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001450186]	Chr5:140114940 [GRCh38] Chr5:139494525 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.777G>C (p.Val259=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001505817]	Chr5:140114958 [GRCh38] Chr5:139494543 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.789G>C (p.Val263=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001405942]	Chr5:140114970 [GRCh38] Chr5:139494555 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.387G>A (p.Pro129=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000921998]	Chr5:140114568 [GRCh38] Chr5:139494153 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.146G>T (p.Gly49Val)	single nucleotide variant	Inborn genetic diseases [RCV002537495]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000821193]\|not provided [RCV001759608]	Chr5:140114327 [GRCh38] Chr5:139493912 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.919G>A (p.Ala307Thr)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000812327]	Chr5:140115100 [GRCh38] Chr5:139494685 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.950A>T (p.Glu317Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000818498]	Chr5:140115131 [GRCh38] Chr5:139494716 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.787_789del (p.Val263del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000813052]	Chr5:140114967..140114969 [GRCh38] Chr5:139494552..139494554 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	copy number gain	not provided [RCV000846756]	Chr5:139447779..140047037 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_005859.5(PURA):c.430A>G (p.Lys144Glu)	single nucleotide variant	Intellectual disability [RCV001257616]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000824835]	Chr5:140114611 [GRCh38] Chr5:139494196 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.127_138del (p.Ser43_Gly46del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000802625]	Chr5:140114299..140114310 [GRCh38] Chr5:139493884..139493895 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001067613]\|not provided [RCV004777961]	Chr5:140114287..140114313 [GRCh38] Chr5:139493872..139493898 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.640G>T (p.Glu214Ter)	single nucleotide variant	Apnea [RCV000786859]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000995624]	Chr5:140114821 [GRCh38] Chr5:139494406 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.449_456del (p.Arg150fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000987605]	Chr5:140114629..140114636 [GRCh38] Chr5:139494214..139494221 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.227A>C (p.Asp76Ala)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003314512]	Chr5:140114408 [GRCh38] Chr5:139493993 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.394C>G (p.Leu132Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000819365]	Chr5:140114575 [GRCh38] Chr5:139494160 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005859.5(PURA):c.126_146dup (p.Ser43_Gly49dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000792426]	Chr5:140114295..140114296 [GRCh38] Chr5:139493880..139493881 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.922G>A (p.Ala308Thr)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000814283]	Chr5:140115103 [GRCh38] Chr5:139494688 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.10:g.(?_140114162)_(140115170_?)del	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001031664]	Chr5:139493747..139494755 [GRCh37] Chr5:5q31.2	pathogenic
NM_005859.5(PURA):c.9_12dup (p.Asp5fs)	duplication	not provided [RCV001092020]	Chr5:140114187..140114188 [GRCh38] Chr5:139493772..139493773 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.66dup (p.His23fs)	duplication	not provided [RCV001008966]	Chr5:140114243..140114244 [GRCh38] Chr5:139493828..139493829 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.503T>C (p.Leu168Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000851305]	Chr5:140114684 [GRCh38] Chr5:139494269 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.493G>C (p.Gly165Arg)	single nucleotide variant	not provided [RCV000992738]	Chr5:140114674 [GRCh38] Chr5:139494259 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.38del (p.Ala13fs)	deletion	not provided [RCV001008876]	Chr5:140114219 [GRCh38] Chr5:139493804 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.281del (p.Gly94fs)	deletion	not provided [RCV001009294]	Chr5:140114460 [GRCh38] Chr5:139494045 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.98del (p.Gly33fs)	deletion	Epileptic encephalopathy [RCV001003589]\|not provided [RCV001281603]	Chr5:140114275 [GRCh38] Chr5:139493860 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.407_435del (p.Gln136fs)	deletion	not provided [RCV001008603]	Chr5:140114586..140114614 [GRCh38] Chr5:139494171..139494199 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.155G>A (p.Gly52Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001222468]	Chr5:140114336 [GRCh38] Chr5:139493921 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.638A>T (p.Glu213Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001239406]	Chr5:140114819 [GRCh38] Chr5:139494404 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.144del (p.Ala50fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001239907]	Chr5:140114325 [GRCh38] Chr5:139493910 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.884_892del (p.Leu295_Gln297del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001229317]	Chr5:140115061..140115069 [GRCh38] Chr5:139494646..139494654 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.424dup (p.Ala142fs)	duplication	PURA Syndrome [RCV000853376]	Chr5:140114602..140114603 [GRCh38] Chr5:139494187..139494188 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.565G>C (p.Ala189Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000995623]	Chr5:140114746 [GRCh38] Chr5:139494331 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.534_555dup (p.Gln186fs)	duplication	not provided [RCV001009073]	Chr5:140114713..140114714 [GRCh38] Chr5:139494298..139494299 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.171_172dup (p.Thr58fs)	microsatellite	not provided [RCV001559872]	Chr5:140114349..140114350 [GRCh38] Chr5:139493934..139493935 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.27G>A (p.Glu9=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003586302]\|not provided [RCV001673579]	Chr5:140114208 [GRCh38] Chr5:139493793 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.*20CA[8]	microsatellite	not provided [RCV001650293]	Chr5:140115169..140115170 [GRCh38] Chr5:139494754..139494755 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.279G>A (p.Ala93=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001456843]	Chr5:140114460 [GRCh38] Chr5:139494045 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.564T>C (p.Ile188=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951906]	Chr5:140114745 [GRCh38] Chr5:139494330 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.603T>G (p.Ala201=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951910]	Chr5:140114784 [GRCh38] Chr5:139494369 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.630A>C (p.Gly210=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951911]	Chr5:140114811 [GRCh38] Chr5:139494396 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.702T>C (p.Asp234=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951912]	Chr5:140114883 [GRCh38] Chr5:139494468 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.735A>G (p.Arg245=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951915]	Chr5:140114916 [GRCh38] Chr5:139494501 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.432A>G (p.Lys144=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951845]	Chr5:140114613 [GRCh38] Chr5:139494198 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.477C>G (p.Leu159=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951846]	Chr5:140114658 [GRCh38] Chr5:139494243 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.519G>C (p.Thr173=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951848]	Chr5:140114700 [GRCh38] Chr5:139494285 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.528G>C (p.Arg176=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951849]\|not provided [RCV001570978]	Chr5:140114709 [GRCh38] Chr5:139494294 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.534T>G (p.Pro178=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951851]	Chr5:140114715 [GRCh38] Chr5:139494300 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.726G>C (p.Val242=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951913]	Chr5:140114907 [GRCh38] Chr5:139494492 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.729T>C (p.Phe243=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951914]	Chr5:140114910 [GRCh38] Chr5:139494495 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.77C>A (p.Ser26Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001222865]	Chr5:140114258 [GRCh38] Chr5:139493843 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.478_480del (p.Lys160del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001209035]	Chr5:140114659..140114661 [GRCh38] Chr5:139494244..139494246 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.241G>A (p.Ala81Thr)	single nucleotide variant	not provided [RCV000998445]	Chr5:140114422 [GRCh38] Chr5:139494007 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.127A>G (p.Ser43Gly)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002573173]\|not provided [RCV001562415]	Chr5:140114308 [GRCh38] Chr5:139493893 [GRCh37] Chr5:5q31.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005859.5(PURA):c.478A>C (p.Lys160Gln)	single nucleotide variant	not provided [RCV003234503]	Chr5:140114659 [GRCh38] Chr5:139494244 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.62del (p.Leu21fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002472251]	Chr5:140114243 [GRCh38] Chr5:139493828 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.534_556dup (p.Gln186fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001264732]	Chr5:140114709..140114710 [GRCh38] Chr5:139494294..139494295 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.53dup (p.Gly19fs)	duplication	not provided [RCV001008128]	Chr5:140114231..140114232 [GRCh38] Chr5:139493816..139493817 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.779C>G (p.Pro260Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001030997]	Chr5:140114960 [GRCh38] Chr5:139494545 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.802G>T (p.Gly268Ter)	single nucleotide variant	not provided [RCV001590248]	Chr5:140114983 [GRCh38] Chr5:139494568 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.15del (p.Asp5fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001542576]	Chr5:140114196 [GRCh38] Chr5:139493781 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.278C>T (p.Ala93Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001036112]	Chr5:140114459 [GRCh38] Chr5:139494044 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)	single nucleotide variant	PURA Syndrome [RCV003232254]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001232985]\|See cases [RCV002252338]	Chr5:140114901 [GRCh38] Chr5:139494486 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.517A>G (p.Thr173Ala)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001056157]	Chr5:140114698 [GRCh38] Chr5:139494283 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.127_141dup (p.Ser43_Gly47dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001042192]\|not provided [RCV005243457]	Chr5:140114295..140114296 [GRCh38] Chr5:139493880..139493881 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001213603]\|not provided [RCV003438721]\|not specified [RCV003479294]	Chr5:140114271..140114288 [GRCh38] Chr5:139493856..139493873 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.518C>A (p.Thr173Lys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001217196]	Chr5:140114699 [GRCh38] Chr5:139494284 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001197762]	Chr5:140114287..140114319 [GRCh38] Chr5:139493872..139493904 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.127_138dup (p.Ser43_Gly46dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001245841]	Chr5:140114298..140114299 [GRCh38] Chr5:139493883..139493884 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003314657]\|not provided [RCV001008137]	Chr5:140114225..140114226 [GRCh38] Chr5:139493810..139493811 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.155G>T (p.Gly52Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001050627]	Chr5:140114336 [GRCh38] Chr5:139493921 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005859.5(PURA):c.925G>C (p.Ala309Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001205263]	Chr5:140115106 [GRCh38] Chr5:139494691 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001254108]	Chr5:140114479..140114496 [GRCh38] Chr5:139494064..139494081 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.459dup (p.Lys154fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001252603]	Chr5:140114639..140114640 [GRCh38] Chr5:139494224..139494225 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.178G>T (p.Glu60Ter)	single nucleotide variant	PURA Syndrome [RCV002274161]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001252643]	Chr5:140114359 [GRCh38] Chr5:139493944 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.703del (p.Val235fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001253768]	Chr5:140114884 [GRCh38] Chr5:139494469 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.-12_25del (p.Met1fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001251142]	Chr5:140114161..140114197 [GRCh38] Chr5:139493746..139493782 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.127_130del (p.Ser43fs)	deletion	Inborn genetic diseases [RCV001265759]	Chr5:140114308..140114311 [GRCh38] Chr5:139493893..139493896 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup)	duplication	Inborn genetic diseases [RCV001266899]	Chr5:140114631..140114632 [GRCh38] Chr5:139494216..139494217 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.533dup (p.Gly179fs)	duplication	Inborn genetic diseases [RCV001267156]	Chr5:140114712..140114713 [GRCh38] Chr5:139494297..139494298 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter)	insertion	Inborn genetic diseases [RCV001267121]	Chr5:140114858..140114859 [GRCh38] Chr5:139494443..139494444 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.475C>G (p.Leu159Val)	single nucleotide variant	Inborn genetic diseases [RCV001265849]	Chr5:140114656 [GRCh38] Chr5:139494241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.898del (p.Gln300fs)	deletion	not provided [RCV001268783]	Chr5:140115079 [GRCh38] Chr5:139494664 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.641_645dup (p.Ala216fs)	duplication	Inborn genetic diseases [RCV001265803]	Chr5:140114820..140114821 [GRCh38] Chr5:139494405..139494406 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.101del (p.Gly34fs)	deletion	Inborn genetic diseases [RCV001265987]	Chr5:140114281 [GRCh38] Chr5:139493866 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.584T>A (p.Leu195His)	single nucleotide variant	Inborn genetic diseases [RCV001267380]	Chr5:140114765 [GRCh38] Chr5:139494350 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.595C>T (p.Arg199Cys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001338247]\|not provided [RCV003317481]	Chr5:140114776 [GRCh38] Chr5:139494361 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.100G>A (p.Gly34Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001314027]\|not provided [RCV004692471]	Chr5:140114281 [GRCh38] Chr5:139493866 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.334G>C (p.Asp112His)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001320154]	Chr5:140114515 [GRCh38] Chr5:139494100 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.898CAG[5] (p.Gln303dup)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001298274]	Chr5:140115078..140115079 [GRCh38] Chr5:139494663..139494664 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.132CGG[2] (p.Gly47_Gly49del)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001304343]	Chr5:140114311..140114319 [GRCh38] Chr5:139493896..139493904 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001343570]	Chr5:140114278..140114289 [GRCh38] Chr5:139493863..139493874 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088]	Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_005859.5(PURA):c.895dup (p.Gln299fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001361703]	Chr5:140115075..140115076 [GRCh38] Chr5:139494660..139494661 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005859.5(PURA):c.502dup (p.Leu168fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001382622]	Chr5:140114681..140114682 [GRCh38] Chr5:139494266..139494267 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.383_386dup (p.Pro130fs)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001358681]	Chr5:140114557..140114558 [GRCh38] Chr5:139494142..139494143 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.657C>T (p.Pro219=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001423169]	Chr5:140114838 [GRCh38] Chr5:139494423 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.385C>T (p.Pro129Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001303138]	Chr5:140114566 [GRCh38] Chr5:139494151 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.88_93del (p.26SG[2])	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001307279]	Chr5:140114266..140114271 [GRCh38] Chr5:139493851..139493856 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.941A>C (p.Gln314Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001323993]	Chr5:140115122 [GRCh38] Chr5:139494707 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.350T>C (p.Phe117Ser)	single nucleotide variant	not provided [RCV001280769]	Chr5:140114531 [GRCh38] Chr5:139494116 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.769A>G (p.Ile257Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001345186]	Chr5:140114950 [GRCh38] Chr5:139494535 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.109G>T (p.Gly37Cys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001305049]	Chr5:140114290 [GRCh38] Chr5:139493875 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005859.5(PURA):c.674C>T (p.Thr225Ile)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001296177]	Chr5:140114855 [GRCh38] Chr5:139494440 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.221A>G (p.Tyr74Cys)	single nucleotide variant	See cases [RCV001420324]	Chr5:140114402 [GRCh38] Chr5:139493987 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.603T>C (p.Ala201=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001461050]	Chr5:140114784 [GRCh38] Chr5:139494369 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.733C>T (p.Arg245Ter)	single nucleotide variant	not provided [RCV000522504]	Chr5:140114914 [GRCh38] Chr5:139494499 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.506G>C (p.Arg169Pro)	single nucleotide variant	Inborn genetic diseases [RCV000623185]	Chr5:140114687 [GRCh38] Chr5:139494272 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.137del (p.Gly46fs)	deletion	not provided [RCV000599345]	Chr5:140114317 [GRCh38] Chr5:139493902 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.572C>T (p.Pro191Leu)	single nucleotide variant	Inborn genetic diseases [RCV001265745]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002267612]\|not provided [RCV000482884]	Chr5:140114753 [GRCh38] Chr5:139494338 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic
NM_005859.5(PURA):c.202A>G (p.Ile68Val)	single nucleotide variant	not provided [RCV000485332]	Chr5:140114383 [GRCh38] Chr5:139493968 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.267del (p.Glu90fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003766667]\|not provided [RCV000486970]	Chr5:140114447 [GRCh38] Chr5:139494032 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.427C>G (p.Leu143Val)	single nucleotide variant	Inborn genetic diseases [RCV000624189]	Chr5:140114608 [GRCh38] Chr5:139494193 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.132CGG[7] (p.Gly48_Gly49dup)	microsatellite	Inborn genetic diseases [RCV002388144]\|PURA-related disorder [RCV004754518]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652453]	Chr5:140114310..140114311 [GRCh38] Chr5:139493895..139493896 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.270G>A (p.Glu90=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652456]	Chr5:140114451 [GRCh38] Chr5:139494036 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.42G>A (p.Ala14=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652458]\|not provided [RCV003432706]	Chr5:140114223 [GRCh38] Chr5:139493808 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.582G>C (p.Gly194=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652457]	Chr5:140114763 [GRCh38] Chr5:139494348 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.619_625del (p.Asp207fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000690596]	Chr5:140114800..140114806 [GRCh38] Chr5:139494385..139494391 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.531G>C (p.Gly177=)	single nucleotide variant	Inborn genetic diseases [RCV002318668]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951850]	Chr5:140114712 [GRCh38] Chr5:139494297 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.102_119dup (p.Gly37_Gly42dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001048081]	Chr5:140114270..140114271 [GRCh38] Chr5:139493855..139493856 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.119del (p.Gly40fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000804112]	Chr5:140114299 [GRCh38] Chr5:139493884 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000812533]	Chr5:140114520 [GRCh38] Chr5:139494105 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.484A>G (p.Asn162Asp)	single nucleotide variant	not provided [RCV000998446]	Chr5:140114665 [GRCh38] Chr5:139494250 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001222159]	Chr5:140114286..140114287 [GRCh38] Chr5:139493871..139493872 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.148del (p.Ala50fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001239908]	Chr5:140114326 [GRCh38] Chr5:139493911 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.614T>C (p.Leu205Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000987606]\|not provided [RCV004761849]	Chr5:140114795 [GRCh38] Chr5:139494380 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.211A>G (p.Lys71Glu)	single nucleotide variant	not provided [RCV001585160]	Chr5:140114392 [GRCh38] Chr5:139493977 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.58T>C (p.Ser20Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001212518]	Chr5:140114239 [GRCh38] Chr5:139493824 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.149_156dup (p.Gly53fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001027694]	Chr5:140114326..140114327 [GRCh38] Chr5:139493911..139493912 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.70C>T (p.Pro24Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001040096]	Chr5:140114251 [GRCh38] Chr5:139493836 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.955G>C (p.Gly319Arg)	single nucleotide variant	Intellectual disability [RCV001257615]	Chr5:140115136 [GRCh38] Chr5:139494721 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.509T>G (p.Ile170Ser)	single nucleotide variant	not provided [RCV001267964]	Chr5:140114690 [GRCh38] Chr5:139494275 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.268G>C (p.Glu90Gln)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001347054]	Chr5:140114449 [GRCh38] Chr5:139494034 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del)	microsatellite	Inborn genetic diseases [RCV004038635]\|PURA-related disorder [RCV003980384]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001464862]\|not provided [RCV001685362]	Chr5:140114311..140114313 [GRCh38] Chr5:139493896..139493898 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.498C>G (p.Arg166=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001484646]	Chr5:140114679 [GRCh38] Chr5:139494264 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.63G>T (p.Leu21=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001462917]	Chr5:140114244 [GRCh38] Chr5:139493829 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.918C>G (p.Thr306=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001503297]\|not specified [RCV004699404]	Chr5:140115099 [GRCh38] Chr5:139494684 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.777G>A (p.Val259=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001484226]	Chr5:140114958 [GRCh38] Chr5:139494543 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.228C>T (p.Asp76=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001506373]	Chr5:140114409 [GRCh38] Chr5:139493994 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.51G>T (p.Ser17=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001409266]	Chr5:140114232 [GRCh38] Chr5:139493817 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.462G>A (p.Lys154=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001445961]	Chr5:140114643 [GRCh38] Chr5:139494228 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.647_660del (p.Ala216fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001380286]	Chr5:140114827..140114840 [GRCh38] Chr5:139494412..139494425 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.826G>T (p.Glu276Ter)	single nucleotide variant	not provided [RCV001532527]	Chr5:140115007 [GRCh38] Chr5:139494592 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.306C>T (p.Leu102=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001449428]\|not specified [RCV001820140]	Chr5:140114487 [GRCh38] Chr5:139494072 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.255C>T (p.Phe85=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001437725]\|not provided [RCV003438795]	Chr5:140114436 [GRCh38] Chr5:139494021 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.465C>T (p.Tyr155=)	single nucleotide variant	Inborn genetic diseases [RCV002329473]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001427018]	Chr5:140114646 [GRCh38] Chr5:139494231 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.165G>A (p.Gln55=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001393457]	Chr5:140114346 [GRCh38] Chr5:139493931 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.669C>T (p.Ser223=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001448366]	Chr5:140114850 [GRCh38] Chr5:139494435 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.231G>T (p.Val77=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001436940]	Chr5:140114412 [GRCh38] Chr5:139493997 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.648C>T (p.Ala216=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001404347]	Chr5:140114829 [GRCh38] Chr5:139494414 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.843del (p.Gln282fs)	deletion	not provided [RCV001682685]	Chr5:140115023 [GRCh38] Chr5:139494608 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.543C>A (p.Gly181=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001502147]	Chr5:140114724 [GRCh38] Chr5:139494309 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.576G>T (p.Ala192=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001465478]	Chr5:140114757 [GRCh38] Chr5:139494342 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.537C>T (p.Gly179=)	single nucleotide variant	Inborn genetic diseases [RCV002350929]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001458396]	Chr5:140114718 [GRCh38] Chr5:139494303 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.918C>T (p.Thr306=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001470139]	Chr5:140115099 [GRCh38] Chr5:139494684 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.450C>T (p.Arg150=)	single nucleotide variant	Inborn genetic diseases [RCV002342019]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001456824]	Chr5:140114631 [GRCh38] Chr5:139494216 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.741C>T (p.Ser247=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001490708]	Chr5:140114922 [GRCh38] Chr5:139494507 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.51G>C (p.Ser17=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001503868]	Chr5:140114232 [GRCh38] Chr5:139493817 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.267C>T (p.Ala89=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001467968]	Chr5:140114448 [GRCh38] Chr5:139494033 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.693C>T (p.Phe231=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001462130]\|not specified [RCV004801020]	Chr5:140114874 [GRCh38] Chr5:139494459 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.93del (p.Gly33fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001390161]	Chr5:140114274 [GRCh38] Chr5:139493859 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.169G>T (p.Glu57Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250281]	Chr5:140114350 [GRCh38] Chr5:139493935 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.629del (p.Gly210fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250283]	Chr5:140114809 [GRCh38] Chr5:139494394 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.715A>T (p.Lys239Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250284]	Chr5:140114896 [GRCh38] Chr5:139494481 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.501C>G (p.Phe167Leu)	single nucleotide variant	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome [RCV001730153]	Chr5:140114682 [GRCh38] Chr5:139494267 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.66del (p.His23fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001725864]	Chr5:140114244 [GRCh38] Chr5:139493829 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.74del (p.Gly25fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002273075]	Chr5:140114254 [GRCh38] Chr5:139493839 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.235C>T (p.Gln79Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002255780]	Chr5:140114416 [GRCh38] Chr5:139494001 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.169G>C (p.Glu57Gln)	single nucleotide variant	not provided [RCV001754355]	Chr5:140114350 [GRCh38] Chr5:139493935 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.406C>T (p.Gln136Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001733882]	Chr5:140114587 [GRCh38] Chr5:139494172 [GRCh37] Chr5:5q31.3	pathogenic
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202]	Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3	pathogenic
NM_005859.5(PURA):c.563_578del (p.Ile188fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001775389]	Chr5:140114742..140114757 [GRCh38] Chr5:139494327..139494342 [GRCh37] Chr5:5q31.3	likely pathogenic
GRCh37/hg19 5q31.2-31.3(chr5:139486394-139505318)x1	copy number loss	not provided [RCV001795853]	Chr5:139486394..139505318 [GRCh37] Chr5:5q31.2-31.3	pathogenic
NM_005859.5(PURA):c.494G>A (p.Gly165Asp)	single nucleotide variant	not provided [RCV001765436]	Chr5:140114675 [GRCh38] Chr5:139494260 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.530_531dup (p.Pro178fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001814891]	Chr5:140114707..140114708 [GRCh38] Chr5:139494292..139494293 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.79G>C (p.Gly27Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001867801]\|not specified [RCV004782806]	Chr5:140114260 [GRCh38] Chr5:139493845 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.956_964del (p.Gly319_Glu321del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001993797]	Chr5:140115129..140115137 [GRCh38] Chr5:139494714..139494722 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.847G>C (p.Glu283Gln)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001998221]	Chr5:140115028 [GRCh38] Chr5:139494613 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.50C>A (p.Ser17Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002052108]	Chr5:140114231 [GRCh38] Chr5:139493816 [GRCh37] Chr5:5q31.3	likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_005859.5(PURA):c.389del (p.Pro130fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002035428]	Chr5:140114569 [GRCh38] Chr5:139494154 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.215G>A (p.Arg72His)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002052155]	Chr5:140114396 [GRCh38] Chr5:139493981 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.387dup (p.Pro130fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001999862]	Chr5:140114567..140114568 [GRCh38] Chr5:139494152..139494153 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.114_119del (p.Gly41_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001901579]	Chr5:140114290..140114295 [GRCh38] Chr5:139493875..139493880 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.112_126dup (p.Gly38_Gly42dup)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001912920]	Chr5:140114286..140114287 [GRCh38] Chr5:139493871..139493872 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.65G>A (p.Gly22Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001915727]	Chr5:140114246 [GRCh38] Chr5:139493831 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.436G>A (p.Glu146Lys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001909321]	Chr5:140114617 [GRCh38] Chr5:139494202 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.77C>T (p.Ser26Leu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001907045]	Chr5:140114258 [GRCh38] Chr5:139493843 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.185C>T (p.Ala62Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001882152]	Chr5:140114366 [GRCh38] Chr5:139493951 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.55G>A (p.Gly19Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001887076]	Chr5:140114236 [GRCh38] Chr5:139493821 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.627C>T (p.Tyr209=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002087181]	Chr5:140114808 [GRCh38] Chr5:139494393 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.68A>G (p.His23Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002148319]	Chr5:140114249 [GRCh38] Chr5:139493834 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.287A>G (p.Asn96Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002124797]	Chr5:140114468 [GRCh38] Chr5:139494053 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.126_146del (p.Ser43_Gly49del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002125569]	Chr5:140114296..140114316 [GRCh38] Chr5:139493881..139493901 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.51G>A (p.Ser17=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002074715]	Chr5:140114232 [GRCh38] Chr5:139493817 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.108C>G (p.Gly36=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002095815]	Chr5:140114289 [GRCh38] Chr5:139493874 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.423G>A (p.Arg141=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002107651]	Chr5:140114604 [GRCh38] Chr5:139494189 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.360C>T (p.His120=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002166383]	Chr5:140114541 [GRCh38] Chr5:139494126 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.495C>T (p.Gly165=)	single nucleotide variant	Inborn genetic diseases [RCV002346434]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002096468]	Chr5:140114676 [GRCh38] Chr5:139494261 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.267C>G (p.Ala89=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002093140]	Chr5:140114448 [GRCh38] Chr5:139494033 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.502C>T (p.Leu168=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002132576]	Chr5:140114683 [GRCh38] Chr5:139494268 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.897A>G (p.Gln299=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002113102]	Chr5:140115078 [GRCh38] Chr5:139494663 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.723C>T (p.Gly241=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002179241]	Chr5:140114904 [GRCh38] Chr5:139494489 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.600C>T (p.Asp200=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002175943]	Chr5:140114781 [GRCh38] Chr5:139494366 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.123C>T (p.Gly41=)	single nucleotide variant	Inborn genetic diseases [RCV002372850]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002177675]	Chr5:140114304 [GRCh38] Chr5:139493889 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.275G>C (p.Gly92Ala)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003101332]\|not specified [RCV002248143]	Chr5:140114456 [GRCh38] Chr5:139494041 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.127_144del (p.Ser43_Gly48del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002143637]	Chr5:140114296..140114313 [GRCh38] Chr5:139493881..139493898 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.99C>T (p.Gly33=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002143657]	Chr5:140114280 [GRCh38] Chr5:139493865 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.186C>T (p.Ala62=)	single nucleotide variant	Inborn genetic diseases [RCV002409597]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002164257]	Chr5:140114367 [GRCh38] Chr5:139493952 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.672G>C (p.Leu224Phe)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002160752]	Chr5:140114853 [GRCh38] Chr5:139494438 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del)	deletion	Inborn genetic diseases [RCV003070637]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002140471]	Chr5:140114285..140114308 [GRCh38] Chr5:139493870..139493893 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.102T>C (p.Gly34=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002203790]	Chr5:140114283 [GRCh38] Chr5:139493868 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.210C>T (p.Asn70=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002102938]	Chr5:140114391 [GRCh38] Chr5:139493976 [GRCh37] Chr5:5q31.3	likely benign
NC_000005.9:g.(?_136957787)_(140078137_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437]	Chr5:136957787..140078137 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_005859.5(PURA):c.25G>T (p.Glu9Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003112180]	Chr5:140114206 [GRCh38] Chr5:139493791 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.580G>T (p.Gly194Trp)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004785166]	Chr5:140114761 [GRCh38] Chr5:139494346 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.807C>T (p.His269=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003748946]	Chr5:140114988 [GRCh38] Chr5:139494573 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.469A>G (p.Met157Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002227002]\|not provided [RCV003328694]	Chr5:140114650 [GRCh38] Chr5:139494235 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.409G>C (p.Asp137His)	single nucleotide variant	not specified [RCV002248144]	Chr5:140114590 [GRCh38] Chr5:139494175 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.512G>C (p.Arg171Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250282]	Chr5:140114693 [GRCh38] Chr5:139494278 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.898C>T (p.Gln300Ter)	single nucleotide variant	not provided [RCV003149518]	Chr5:140115079 [GRCh38] Chr5:139494664 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.206dup (p.Asn70fs)	duplication	not provided [RCV002263392]	Chr5:140114386..140114387 [GRCh38] Chr5:139493971..139493972 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.426_427dup (p.Leu143fs)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002273256]	Chr5:140114604..140114605 [GRCh38] Chr5:139494189..139494190 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.44T>C (p.Leu15Pro)	single nucleotide variant	not provided [RCV002263391]	Chr5:140114225 [GRCh38] Chr5:139493810 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.215G>C (p.Arg72Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002289329]	Chr5:140114396 [GRCh38] Chr5:139493981 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.577C>T (p.Gln193Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002289437]	Chr5:140114758 [GRCh38] Chr5:139494343 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.362dup (p.Tyr121Ter)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002273026]	Chr5:140114542..140114543 [GRCh38] Chr5:139494127..139494128 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.98dup (p.Gly34fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002285247]	Chr5:140114274..140114275 [GRCh38] Chr5:139493859..139493860 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.15_16del (p.Asp5fs)	deletion	not provided [RCV002267257]	Chr5:140114195..140114196 [GRCh38] Chr5:139493780..139493781 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.625T>G (p.Tyr209Asp)	single nucleotide variant	not provided [RCV002283214]	Chr5:140114806 [GRCh38] Chr5:139494391 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.455A>T (p.Asn152Ile)	single nucleotide variant	not provided [RCV002263393]	Chr5:140114636 [GRCh38] Chr5:139494221 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.139G>A (p.Gly47Ser)	single nucleotide variant	not provided [RCV002293128]	Chr5:140114320 [GRCh38] Chr5:139493905 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.259A>G (p.Lys87Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002289452]	Chr5:140114440 [GRCh38] Chr5:139494025 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.232A>G (p.Lys78Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003097825]\|not provided [RCV002293129]	Chr5:140114413 [GRCh38] Chr5:139493998 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.951A>C (p.Glu317Asp)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002297424]	Chr5:140115132 [GRCh38] Chr5:139494717 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.4_7dup (p.Asp3fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003148121]	Chr5:140114183..140114184 [GRCh38] Chr5:139493768..139493769 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.657del (p.Glu220fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003131278]	Chr5:140114836 [GRCh38] Chr5:139494421 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.227A>T (p.Asp76Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002466350]	Chr5:140114408 [GRCh38] Chr5:139493993 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.217T>G (p.Phe73Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002470184]	Chr5:140114398 [GRCh38] Chr5:139493983 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.*8G>A	single nucleotide variant	not provided [RCV002464788]	Chr5:140115158 [GRCh38] Chr5:139494743 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.43C>G (p.Leu15Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002304078]	Chr5:140114224 [GRCh38] Chr5:139493809 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.168C>G (p.His56Gln)	single nucleotide variant	not provided [RCV002305949]	Chr5:140114349 [GRCh38] Chr5:139493934 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.41C>T (p.Ala14Val)	single nucleotide variant	not provided [RCV002308742]	Chr5:140114222 [GRCh38] Chr5:139493807 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.105T>G (p.Gly35=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005058887]\|not provided [RCV002512278]	Chr5:140114286 [GRCh38] Chr5:139493871 [GRCh37] Chr5:5q31.3	benign\|likely benign
NM_005859.5(PURA):c.276C>T (p.Gly92=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002771535]\|not provided [RCV005242277]	Chr5:140114457 [GRCh38] Chr5:139494042 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.928dup (p.Thr310fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002993514]	Chr5:140115108..140115109 [GRCh38] Chr5:139494693..139494694 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.461A>G (p.Lys154Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002971318]	Chr5:140114642 [GRCh38] Chr5:139494227 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.869C>T (p.Ala290Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002734797]	Chr5:140115050 [GRCh38] Chr5:139494635 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.948G>A (p.Glu316=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002756103]	Chr5:140115129 [GRCh38] Chr5:139494714 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.626A>T (p.Tyr209Phe)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002948133]	Chr5:140114807 [GRCh38] Chr5:139494392 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.513C>T (p.Arg171=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003075501]	Chr5:140114694 [GRCh38] Chr5:139494279 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.774C>A (p.Thr258=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002907676]	Chr5:140114955 [GRCh38] Chr5:139494540 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.921C>T (p.Ala307=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002908108]	Chr5:140115102 [GRCh38] Chr5:139494687 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.900G>A (p.Gln300=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002889599]	Chr5:140115081 [GRCh38] Chr5:139494666 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.38C>T (p.Ala13Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003053503]	Chr5:140114219 [GRCh38] Chr5:139493804 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.102TGG[3] (p.Gly42_Ser43insGly)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002695896]	Chr5:140114280..140114281 [GRCh38] Chr5:139493865..139493866 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.208A>C (p.Asn70His)	single nucleotide variant	Inborn genetic diseases [RCV002762454]	Chr5:140114389 [GRCh38] Chr5:139493974 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.282C>G (p.Gly94=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003077294]	Chr5:140114463 [GRCh38] Chr5:139494048 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.426G>C (p.Ala142=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002884991]	Chr5:140114607 [GRCh38] Chr5:139494192 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.203_211del (p.Ile68_Asn70del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002867758]	Chr5:140114381..140114389 [GRCh38] Chr5:139493966..139493974 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.234G>A (p.Lys78=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003018896]	Chr5:140114415 [GRCh38] Chr5:139494000 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.888C>T (p.His296=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003100677]	Chr5:140115069 [GRCh38] Chr5:139494654 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.508A>T (p.Ile170Phe)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002796849]\|not provided [RCV004763463]	Chr5:140114689 [GRCh38] Chr5:139494274 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.923C>T (p.Ala308Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002949579]	Chr5:140115104 [GRCh38] Chr5:139494689 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.789G>A (p.Val263=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003008071]	Chr5:140114970 [GRCh38] Chr5:139494555 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.588C>T (p.Ile196=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002644509]	Chr5:140114769 [GRCh38] Chr5:139494354 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.399C>T (p.Ala133=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002828631]	Chr5:140114580 [GRCh38] Chr5:139494165 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.720C>T (p.Tyr240=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002741701]	Chr5:140114901 [GRCh38] Chr5:139494486 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.6G>C (p.Ala2=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002791326]	Chr5:140114187 [GRCh38] Chr5:139493772 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.435C>T (p.Ser145=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003057588]	Chr5:140114616 [GRCh38] Chr5:139494201 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.115GGC[1] (p.Gly40_Gly42del)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002876129]	Chr5:140114296..140114304 [GRCh38] Chr5:139493881..139493889 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.763A>G (p.Asn255Asp)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003042746]	Chr5:140114944 [GRCh38] Chr5:139494529 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.380dup (p.Ser127fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002852759]	Chr5:140114560..140114561 [GRCh38] Chr5:139494145..139494146 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.147G>C (p.Gly49=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002958044]	Chr5:140114328 [GRCh38] Chr5:139493913 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.214C>A (p.Arg72Ser)	single nucleotide variant	not provided [RCV002508702]	Chr5:140114395 [GRCh38] Chr5:139493980 [GRCh37] Chr5:5q31.3	pathogenic\|uncertain significance
NM_005859.5(PURA):c.819G>A (p.Lys273=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002933520]	Chr5:140115000 [GRCh38] Chr5:139494585 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.872C>T (p.Ala291Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003047148]	Chr5:140115053 [GRCh38] Chr5:139494638 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.117C>T (p.Gly39=)	single nucleotide variant	PURA-related disorder [RCV003898603]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002937999]	Chr5:140114298 [GRCh38] Chr5:139493883 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.61C>T (p.Leu21=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002770850]	Chr5:140114242 [GRCh38] Chr5:139493827 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.3G>A (p.Met1Ile)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003030865]	Chr5:140114184 [GRCh38] Chr5:139493769 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.207G>A (p.Gln69=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003062484]	Chr5:140114388 [GRCh38] Chr5:139493973 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.111C>G (p.Gly37=)	single nucleotide variant	not provided [RCV003223192]	Chr5:140114292 [GRCh38] Chr5:139493877 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.627C>G (p.Tyr209Ter)	single nucleotide variant	not provided [RCV003223193]	Chr5:140114808 [GRCh38] Chr5:139494393 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.228del (p.Asp76fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV004594686]	Chr5:140114409 [GRCh38] Chr5:139493994 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.190A>T (p.Lys64Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003133731]	Chr5:140114371 [GRCh38] Chr5:139493956 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.273_328del (p.Gly92fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV003226088]	Chr5:140114452..140114507 [GRCh38] Chr5:139494037..139494092 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.458G>A (p.Arg153His)	single nucleotide variant	not provided [RCV003319120]	Chr5:140114639 [GRCh38] Chr5:139494224 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.159del (p.Leu54fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003448512]	Chr5:140114335 [GRCh38] Chr5:139493920 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.467A>G (p.Tyr156Cys)	single nucleotide variant	PURA-related disorder [RCV003397433]	Chr5:140114648 [GRCh38] Chr5:139494233 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.26_35del (p.Glu9fs)	deletion	PURA-related disorder [RCV003404284]	Chr5:140114206..140114215 [GRCh38] Chr5:139493791..139493800 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.296G>C (p.Arg99Pro)	single nucleotide variant	PURA-related disorder [RCV003404370]	Chr5:140114477 [GRCh38] Chr5:139494062 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.197T>C (p.Val66Ala)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004789711]	Chr5:140114378 [GRCh38] Chr5:139493963 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.272T>G (p.Val91Gly)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004789713]	Chr5:140114453 [GRCh38] Chr5:139494038 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.726G>A (p.Val242=)	single nucleotide variant	not provided [RCV003429781]	Chr5:140114907 [GRCh38] Chr5:139494492 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.306C>G (p.Leu102=)	single nucleotide variant	not provided [RCV003436459]	Chr5:140114487 [GRCh38] Chr5:139494072 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.102T>G (p.Gly34=)	single nucleotide variant	not provided [RCV003436458]	Chr5:140114283 [GRCh38] Chr5:139493868 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.540_544dup (p.Ser182fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003448531]	Chr5:140114718..140114719 [GRCh38] Chr5:139494303..139494304 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.331del (p.Arg111fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003883324]	Chr5:140114511 [GRCh38] Chr5:139494096 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.851A>C (p.Lys284Thr)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003875846]	Chr5:140115032 [GRCh38] Chr5:139494617 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.132CGG[8] (p.Gly49_Ala50insGlyGlyGly)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003877271]	Chr5:140114310..140114311 [GRCh38] Chr5:139493895..139493896 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.478A>T (p.Lys160Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003827647]	Chr5:140114659 [GRCh38] Chr5:139494244 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.586_588del (p.Ile196del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003883398]	Chr5:140114765..140114767 [GRCh38] Chr5:139494350..139494352 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.671del (p.Ser223_Leu224insTer)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749509]	Chr5:140114851 [GRCh38] Chr5:139494436 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.654G>T (p.Leu218=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749051]	Chr5:140114835 [GRCh38] Chr5:139494420 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.102_137dup (p.Gly49_Ala50insGlyGlyGlyGlyGlySerGlyGlyGlyGlyGlyGly)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749429]	Chr5:140114277..140114278 [GRCh38] Chr5:139493862..139493863 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.29A>T (p.Gln10Leu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003750168]	Chr5:140114210 [GRCh38] Chr5:139493795 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003817240]	Chr5:140114286..140114287 [GRCh38] Chr5:139493871..139493872 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.20del (p.Gly7fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749397]	Chr5:140114200 [GRCh38] Chr5:139493785 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.762C>A (p.Arg254=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749426]	Chr5:140114943 [GRCh38] Chr5:139494528 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.957G>A (p.Gly319=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749933]	Chr5:140115138 [GRCh38] Chr5:139494723 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.194G>T (p.Arg65Leu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003586460]	Chr5:140114375 [GRCh38] Chr5:139493960 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.108_113del (p.Gly41_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003751586]	Chr5:140114287..140114292 [GRCh38] Chr5:139493872..139493877 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.354C>A (p.Ile118=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003751615]	Chr5:140114535 [GRCh38] Chr5:139494120 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.456C>T (p.Asn152=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749145]	Chr5:140114637 [GRCh38] Chr5:139494222 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005859.5(PURA):c.78G>A (p.Ser26=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749257]	Chr5:140114259 [GRCh38] Chr5:139493844 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.547A>G (p.Thr183Ala)	single nucleotide variant	Inborn genetic diseases [RCV004953370]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749554]	Chr5:140114728 [GRCh38] Chr5:139494313 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.351C>T (p.Phe117=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003838036]	Chr5:140114532 [GRCh38] Chr5:139494117 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.66G>C (p.Gly22=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749348]	Chr5:140114247 [GRCh38] Chr5:139493832 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.585C>T (p.Leu195=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749411]	Chr5:140114766 [GRCh38] Chr5:139494351 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.112G>A (p.Gly38Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749428]	Chr5:140114293 [GRCh38] Chr5:139493878 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.129T>C (p.Ser43=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749966]\|not provided [RCV005242420]	Chr5:140114310 [GRCh38] Chr5:139493895 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.433dup (p.Ser145fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003750103]	Chr5:140114610..140114611 [GRCh38] Chr5:139494195..139494196 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.757T>G (p.Tyr253Asp)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003586617]	Chr5:140114938 [GRCh38] Chr5:139494523 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.425C>A (p.Ala142Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003586638]	Chr5:140114606 [GRCh38] Chr5:139494191 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.114_140dup (p.Gly49_Ala50insGlyGlySerGlyGlyGlyGlyGlyGly)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003840708]	Chr5:140114286..140114287 [GRCh38] Chr5:139493871..139493872 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.39G>A (p.Ala13=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003818268]	Chr5:140114220 [GRCh38] Chr5:139493805 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.849G>C (p.Glu283Asp)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003587667]	Chr5:140115030 [GRCh38] Chr5:139494615 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.201C>T (p.Asp67=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003868695]	Chr5:140114382 [GRCh38] Chr5:139493967 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.192G>A (p.Lys64=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003747736]	Chr5:140114373 [GRCh38] Chr5:139493958 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.102_125del (p.Gly35_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003748592]	Chr5:140114278..140114301 [GRCh38] Chr5:139493863..139493886 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.348C>T (p.Asp116=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003748610]	Chr5:140114529 [GRCh38] Chr5:139494114 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.516G>A (p.Gln172=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003857888]	Chr5:140114697 [GRCh38] Chr5:139494282 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.666C>T (p.Thr222=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003747703]	Chr5:140114847 [GRCh38] Chr5:139494432 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.236A>C (p.Gln79Pro)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003747813]	Chr5:140114417 [GRCh38] Chr5:139494002 [GRCh37] Chr5:5q31.3	uncertain significance
NC_000005.10:g.140113537_140114444delinsGAGGTGGG	indel	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003747852]	Chr5:140113537..140114444 [GRCh38] Chr5:139493122..139494029 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.297C>T (p.Arg99=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003748716]	Chr5:140114478 [GRCh38] Chr5:139494063 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.160C>T (p.Leu54=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003846068]\|not specified [RCV004701850]	Chr5:140114341 [GRCh38] Chr5:139493926 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.72C>T (p.Pro24=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003587884]	Chr5:140114253 [GRCh38] Chr5:139493838 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.50C>T (p.Ser17Leu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003821311]	Chr5:140114231 [GRCh38] Chr5:139493816 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.105_122dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003587540]	Chr5:140114283..140114284 [GRCh38] Chr5:139493868..139493869 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.-20_142del (p.Met1_Gly48del)	deletion	Inborn genetic diseases [RCV004438174]	Chr5:140114149..140114310 [GRCh38] Chr5:139493734..139493895 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.804A>G (p.Gly268=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001427611]	Chr5:140114985 [GRCh38] Chr5:139494570 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.608C>T (p.Ala203Val)	single nucleotide variant	not provided [RCV001592075]	Chr5:140114789 [GRCh38] Chr5:139494374 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.138C>T (p.Gly46=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002073967]\|not provided [RCV001732414]	Chr5:140114319 [GRCh38] Chr5:139493904 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.224T>G (p.Leu75Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001730070]	Chr5:140114405 [GRCh38] Chr5:139493990 [GRCh37] Chr5:5q31.3	pathogenic\|conflicting interpretations of pathogenicity
NM_005859.5(PURA):c.531del (p.Pro178fs)	deletion	Inborn genetic diseases [RCV002343805]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001730056]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002471138]	Chr5:140114708 [GRCh38] Chr5:139494293 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.268G>A (p.Glu90Lys)	single nucleotide variant	not provided [RCV001763446]	Chr5:140114449 [GRCh38] Chr5:139494034 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.478A>G (p.Lys160Glu)	single nucleotide variant	not provided [RCV001763857]	Chr5:140114659 [GRCh38] Chr5:139494244 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.34G>T (p.Gly12Cys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002540603]\|not provided [RCV001774674]	Chr5:140114215 [GRCh38] Chr5:139493800 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002542489]\|not provided [RCV001822054]	Chr5:140114873 [GRCh38] Chr5:139494458 [GRCh37] Chr5:5q31.3	pathogenic\|likely pathogenic\|uncertain significance
NM_005859.5(PURA):c.824C>A (p.Ser275Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001809154]	Chr5:140115005 [GRCh38] Chr5:139494590 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.310dup (p.Met104fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001904753]	Chr5:140114490..140114491 [GRCh38] Chr5:139494075..139494076 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.867G>C (p.Arg289=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002087040]	Chr5:140115048 [GRCh38] Chr5:139494633 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.444G>A (p.Leu148=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002196783]	Chr5:140114625 [GRCh38] Chr5:139494210 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.549G>A (p.Thr183=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002180163]	Chr5:140114730 [GRCh38] Chr5:139494315 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.910GAG[1] (p.Glu305del)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003110518]	Chr5:140115089..140115091 [GRCh38] Chr5:139494674..139494676 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.31G>A (p.Gly11Ser)	single nucleotide variant	not provided [RCV004777108]	Chr5:140114212 [GRCh38] Chr5:139493797 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.381C>A (p.Ser127Arg)	single nucleotide variant	not provided [RCV002474134]	Chr5:140114562 [GRCh38] Chr5:139494147 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.91G>A (p.Gly31Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002301336]	Chr5:140114272 [GRCh38] Chr5:139493857 [GRCh37] Chr5:5q31.3	likely benign\|uncertain significance
NM_005859.5(PURA):c.168C>T (p.His56=)	single nucleotide variant	Inborn genetic diseases [RCV002406140]\|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003097123]	Chr5:140114349 [GRCh38] Chr5:139493934 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.583_602del (p.Leu195fs)	deletion	Inborn genetic diseases [RCV002353240]	Chr5:140114764..140114783 [GRCh38] Chr5:139494349..139494368 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.416C>T (p.Pro139Leu)	single nucleotide variant	Inborn genetic diseases [RCV002333383]	Chr5:140114597 [GRCh38] Chr5:139494182 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.124G>A (p.Gly42Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002303188]	Chr5:140114305 [GRCh38] Chr5:139493890 [GRCh37] Chr5:5q31.3	benign\|uncertain significance
NM_005859.5(PURA):c.54C>T (p.Gly18=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003056092]	Chr5:140114235 [GRCh38] Chr5:139493820 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.651G>T (p.Glu217Asp)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002805616]	Chr5:140114832 [GRCh38] Chr5:139494417 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.363C>T (p.Tyr121=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003056233]	Chr5:140114544 [GRCh38] Chr5:139494129 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.197T>A (p.Val66Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003048702]	Chr5:140114378 [GRCh38] Chr5:139493963 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.115GGC[5] (p.Gly42_Ser43insGly)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003088147]	Chr5:140114295..140114296 [GRCh38] Chr5:139493880..139493881 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.180G>A (p.Glu60=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002806909]	Chr5:140114361 [GRCh38] Chr5:139493946 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.493G>T (p.Gly165Cys)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003154568]	Chr5:140114674 [GRCh38] Chr5:139494259 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.420C>G (p.Arg140=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749562]	Chr5:140114601 [GRCh38] Chr5:139494186 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.211A>C (p.Lys71Gln)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004006250]	Chr5:140114392 [GRCh38] Chr5:139493977 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.524A>G (p.Asn175Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003750212]	Chr5:140114705 [GRCh38] Chr5:139494290 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.2T>C (p.Met1Thr)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749408]	Chr5:140114183 [GRCh38] Chr5:139493768 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.441C>T (p.Phe147=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749412]	Chr5:140114622 [GRCh38] Chr5:139494207 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.39G>C (p.Ala13=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003750714]	Chr5:140114220 [GRCh38] Chr5:139493805 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.114_134del (p.Ser43_Gly49del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003749214]	Chr5:140114290..140114310 [GRCh38] Chr5:139493875..139493895 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003748082]	Chr5:140114287..140114298 [GRCh38] Chr5:139493872..139493883 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.875G>C (p.Cys292Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003587307]	Chr5:140115056 [GRCh38] Chr5:139494641 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.506G>A (p.Arg169His)	single nucleotide variant	Inborn genetic diseases [RCV004438175]	Chr5:140114687 [GRCh38] Chr5:139494272 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.389C>G (p.Pro130Arg)	single nucleotide variant	not provided [RCV004547033]	Chr5:140114570 [GRCh38] Chr5:139494155 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.309_314del (p.Met104_Ser105del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003990321]	Chr5:140114488..140114493 [GRCh38] Chr5:139494073..139494078 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.116del (p.Gly39fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003885425]	Chr5:140114293 [GRCh38] Chr5:139493878 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.497G>C (p.Arg166Pro)	single nucleotide variant	not provided [RCV003887230]	Chr5:140114678 [GRCh38] Chr5:139494263 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.930C>G (p.Thr310=)	single nucleotide variant	not provided [RCV003884040]	Chr5:140115111 [GRCh38] Chr5:139494696 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.305_308del (p.Leu102fs)	microsatellite	PURA-related disorder [RCV003969241]	Chr5:140114483..140114486 [GRCh38] Chr5:139494068..139494071 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.452_473del (p.Glu151fs)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004527471]	Chr5:140114633..140114654 [GRCh38] Chr5:139494218..139494239 [GRCh37] Chr5:5q31.3	likely pathogenic
NC_000005.9:g.(?_139493767)_(139494735_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004580513]	Chr5:139493767..139494735 [GRCh37] Chr5:5q31.2	uncertain significance
NM_005859.5(PURA):c.652C>G (p.Leu218Val)	single nucleotide variant	not provided [RCV004590915]	Chr5:140114833 [GRCh38] Chr5:139494418 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.28C>T (p.Gln10Ter)	single nucleotide variant	not provided [RCV004697439]	Chr5:140114209 [GRCh38] Chr5:139493794 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.791G>C (p.Trp264Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004596686]	Chr5:140114972 [GRCh38] Chr5:139494557 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.527G>A (p.Arg176Gln)	single nucleotide variant	not provided [RCV004779727]	Chr5:140114708 [GRCh38] Chr5:139494293 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.529G>A (p.Gly177Arg)	single nucleotide variant	PURA-related disorder [RCV004731950]	Chr5:140114710 [GRCh38] Chr5:139494295 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.449G>A (p.Arg150His)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004796993]	Chr5:140114630 [GRCh38] Chr5:139494215 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.230T>A (p.Val77Glu)	single nucleotide variant	not provided [RCV004724218]	Chr5:140114411 [GRCh38] Chr5:139493996 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.723_736dup (p.Val246fs)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004759623]		pathogenic
NM_005859.5(PURA):c.149C>T (p.Ala50Val)	single nucleotide variant	PURA-related disorder [RCV004732126]\|not provided [RCV005054492]	Chr5:140114330 [GRCh38] Chr5:139493915 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.703G>A (p.Val235Met)	single nucleotide variant	not provided [RCV004763794]		uncertain significance
NM_005859.5(PURA):c.435C>G (p.Ser145Arg)	single nucleotide variant	not provided [RCV004764182]		uncertain significance
NM_005859.5(PURA):c.580G>A (p.Gly194Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV004764374]		uncertain significance
NM_005859.5(PURA):c.964G>A (p.Asp322Asn)	single nucleotide variant	PURA-related disorder [RCV004754223]	Chr5:140115145 [GRCh38] Chr5:139494730 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.544T>G (p.Ser182Ala)	single nucleotide variant	Inborn genetic diseases [RCV004957372]	Chr5:140114725 [GRCh38] Chr5:139494310 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.222C>T (p.Tyr74=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005147018]	Chr5:140114403 [GRCh38] Chr5:139493988 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.531G>T (p.Gly177=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005059998]	Chr5:140114712 [GRCh38] Chr5:139494297 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.645G>C (p.Pro215=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005174195]	Chr5:140114826 [GRCh38] Chr5:139494411 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.575C>T (p.Ala192Val)	single nucleotide variant	not provided [RCV005054691]	Chr5:140114756 [GRCh38] Chr5:139494341 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.470T>C (p.Met157Thr)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005173924]	Chr5:140114651 [GRCh38] Chr5:139494236 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.400C>T (p.Gln134Ter)	single nucleotide variant	not provided [RCV005063550]	Chr5:140114581 [GRCh38] Chr5:139494166 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.777G>T (p.Val259=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005117596]	Chr5:140114958 [GRCh38] Chr5:139494543 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.330C>T (p.Phe110=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005132795]	Chr5:140114511 [GRCh38] Chr5:139494096 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.486C>T (p.Asn162=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005151692]	Chr5:140114667 [GRCh38] Chr5:139494252 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.705G>T (p.Val235=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005157792]	Chr5:140114886 [GRCh38] Chr5:139494471 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.699C>T (p.Phe233=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005072734]	Chr5:140114880 [GRCh38] Chr5:139494465 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.849G>A (p.Glu283=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005121273]	Chr5:140115030 [GRCh38] Chr5:139494615 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.322G>A (p.Val108Met)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005200865]	Chr5:140114503 [GRCh38] Chr5:139494088 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.935_946del (p.Leu312_Glu316delinsGln)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005144002]	Chr5:140115116..140115127 [GRCh38] Chr5:139494701..139494712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.498C>T (p.Arg166=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005167288]	Chr5:140114679 [GRCh38] Chr5:139494264 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.681C>G (p.Asp227Glu)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005120148]	Chr5:140114862 [GRCh38] Chr5:139494447 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.460A>T (p.Lys154Ter)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005125008]	Chr5:140114641 [GRCh38] Chr5:139494226 [GRCh37] Chr5:5q31.3	pathogenic
NM_005859.5(PURA):c.944G>T (p.Gly315Val)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005155214]	Chr5:140115125 [GRCh38] Chr5:139494710 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.115GGC[6] (p.Gly42_Ser43insGlyGly)	microsatellite	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005117185]	Chr5:140114295..140114296 [GRCh38] Chr5:139493880..139493881 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.708C>T (p.Gly236=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005155673]	Chr5:140114889 [GRCh38] Chr5:139494474 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.815G>C (p.Cys272Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005133315]	Chr5:140114996 [GRCh38] Chr5:139494581 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.151C>T (p.Pro51Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005129309]	Chr5:140114332 [GRCh38] Chr5:139493917 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.138C>G (p.Gly46=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005122796]	Chr5:140114319 [GRCh38] Chr5:139493904 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.133G>A (p.Gly45Ser)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005154077]	Chr5:140114314 [GRCh38] Chr5:139493899 [GRCh37] Chr5:5q31.3	benign
NM_005859.5(PURA):c.648C>G (p.Ala216=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005123265]	Chr5:140114829 [GRCh38] Chr5:139494414 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.233A>G (p.Lys78Arg)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005124422]	Chr5:140114414 [GRCh38] Chr5:139493999 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.103_126del (p.Gly35_Gly42del)	deletion	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005201634]	Chr5:140114284..140114307 [GRCh38] Chr5:139493869..139493892 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.249C>T (p.Gly83=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005126861]	Chr5:140114430 [GRCh38] Chr5:139494015 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.197_199del (p.Val66del)	deletion	PURA-related disorder [RCV003964482]	Chr5:140114376..140114378 [GRCh38] Chr5:139493961..139493963 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.327G>T (p.Glu109Asp)	single nucleotide variant	not specified [RCV004587843]	Chr5:140114508 [GRCh38] Chr5:139494093 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.393C>G (p.Asp131Glu)	single nucleotide variant	Inborn genetic diseases [RCV004662751]	Chr5:140114574 [GRCh38] Chr5:139494159 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.153A>T (p.Pro51=)	single nucleotide variant	not provided [RCV004810284]	Chr5:140114334 [GRCh38] Chr5:139493919 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.954A>G (p.Glu318=)	single nucleotide variant	not provided [RCV004812083]	Chr5:140115135 [GRCh38] Chr5:139494720 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.658_659inv (p.Glu220Ser)	inversion	not provided [RCV004762422]		uncertain significance
NM_005859.5(PURA):c.652_659delinsGTGCCCTC (p.Leu218_Glu220delinsValProSer)	indel	not provided [RCV004762380]		uncertain significance
NM_005859.5(PURA):c.599A>C (p.Asp200Ala)	single nucleotide variant	not provided [RCV004763243]		uncertain significance
NM_005859.5(PURA):c.734G>A (p.Arg245Gln)	single nucleotide variant	Inborn genetic diseases [RCV004957373]	Chr5:140114915 [GRCh38] Chr5:139494500 [GRCh37] Chr5:5q31.3	likely pathogenic
NM_005859.5(PURA):c.508A>G (p.Ile170Val)	single nucleotide variant	Inborn genetic diseases [RCV004957371]	Chr5:140114689 [GRCh38] Chr5:139494274 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.914A>G (p.Glu305Gly)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005116472]	Chr5:140115095 [GRCh38] Chr5:139494680 [GRCh37] Chr5:5q31.3	likely benign
NM_005859.5(PURA):c.114_137dup (p.Gly49_Ala50insGlySerGlyGlyGlyGlyGlyGly)	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005201299]	Chr5:140114284..140114285 [GRCh38] Chr5:139493869..139493870 [GRCh37] Chr5:5q31.3	uncertain significance
NM_005859.5(PURA):c.825G>A (p.Ser275=)	single nucleotide variant	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV005155468]	Chr5:140115006 [GRCh38] Chr5:139494591 [GRCh37] Chr5:5q31.3	uncertain significance

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR20A	hsa-miR-20a-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829
MIR15B	hsa-miR-15b-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829
MIR93	hsa-miR-93-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829
MIR16-1	hsa-miR-16-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829
MIR15A	hsa-miR-15a-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829
MIR16-2	hsa-miR-16-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829
MIR106B	hsa-miR-106b-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22835829

Predicted Target Of

	Summary Value
Count of predictions:	1461
Count of miRNA genes:	770
Interacting mature miRNAs:	941
Transcripts:	ENST00000331327, ENST00000502351, ENST00000505703
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357314	AASTH54_H	Allergic/atopic asthma related QTL 54 (human)	3.56	0.0003	Reversible airflow obstruction	total serum IgE	5	135892246	150155845	Human

PURA__5615

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,494,225 - 139,495,045	UniSTS	GRCh37
Build 36	5	139,474,409 - 139,475,229	RGD	NCBI36
Celera	5	135,570,041 - 135,570,861	RGD
HuRef	5	134,637,397 - 134,638,217	UniSTS

UniSTS:483914

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,493,717 - 139,494,786	UniSTS	GRCh37
Celera	5	135,569,533 - 135,570,602	UniSTS
HuRef	5	134,636,889 - 134,637,958	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2438	2788	2253	4973	1726	2351	6	624	1951	465	2269	7304	6471	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_041813	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT019388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK819077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M96684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X91648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000331327 ⟹ ENSP00000332706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	140,114,109 - 140,125,619 (+)	Ensembl

Ensembl Acc Id:

ENST00000502351 ⟹ ENSP00000498760

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	140,112,928 - 140,114,260 (+)	Ensembl

Ensembl Acc Id:

ENST00000505703 ⟹ ENSP00000498560

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	140,107,777 - 140,114,500 (+)	Ensembl

Ensembl Acc Id:

ENST00000651386 ⟹ ENSP00000499133

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	140,107,815 - 140,115,554 (+)	Ensembl

Ensembl Acc Id:

ENST00000676000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	140,108,020 - 140,109,367 (+)	Ensembl

RefSeq Acc Id:

NM_005859 ⟹ NP_005850

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	140,114,109 - 140,125,619 (+)	NCBI
GRCh37	5	139,493,708 - 139,499,001 (+)	ENTREZGENE
Build 36	5	139,473,892 - 139,476,505 (+)	NCBI Archive
HuRef	5	134,636,880 - 134,642,173 (+)	ENTREZGENE
CHM1_1	5	138,926,813 - 138,932,106 (+)	NCBI
T2T-CHM13v2.0	5	140,639,205 - 140,650,714 (+)	NCBI

Sequence:

show sequence

AGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCG
GCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTG
GCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGATCGCCGAGGTGGGCGCGGGCGGCAACAAGAGCCGCCTTACTCTCTCCAT
GTCAGTGGCCGTGGAGTTCCGCGACTACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGGCCCAGGCGCAGGACGAGCCGCGCCGGGCGCTCAAAAGCGAGT
TCCTGGTGCGCGAGAACCGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGACGGTCAACCGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCG
CTGCCCGCGCAGGGGCTCATCGAGTTCCGTGACGCTCTGGCCAAGCTCATCGACGACTACGGAGTGGAGGAGGAGCCGGCCGAGCTGCCCGAGGGCACCTCCTTGACTGTGGACAACAAGCGCTTCTT
CTTCGATGTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCAACTCCATCACCGTGCCCTACAAGGTGTGGGCCAAGTTCGGACACACCTTCTGCAAGTACT
CGGAGGAGATGAAGAAGATTCAAGAGAAGCAGAGGGAGAAGCGGGCTGCCTGTGAGCAGCTTCACCAGCAGCAACAGCAGCAGCAGGAGGAGACCGCCGCTGCCACCCTGCTACTGCAGGGTGAGGAA
GAAGGGGAAGAAGATTGATCAAACTGAATGAAACCCCCACACACACACACATGCATACACACACACACACAGCCACACACACAGAAAATATACTGTAAAGAAAGAGAGAAAATAAAAAGTTAAAAAGT
TAAAAAAAAAAAAAAACCTGTTAACTCCAAGGGAGCACCACCCACAGAACCTCCACCAACTGACAGTTTCTCTTCTTGACTTGCCACCCATCGCTGGATGTTGTCCACTTTATCCACCATATAAAACA
GTAAGCAGCTGCTAAAAACAAAAAAAATACAAAAAGTAATAACATTATATGAACTGTGTTTCCTACTTGATTAAAAAATATAAAGAACTGAGTGTTTATTTCCCTAATTAACCAAGAACTTTTGTACA
CGTTTAAGCTATTATTATTAAAAAGTGTTTGCAAAATGGTCAAGATTATAATATTGCTGAATTATATAAAAGTCCTTTTCATGTTGAGCTAACATTTGACTTTAGCACAAAAAAGAGATATTTTAGAA
CACGTAAAATAATATTTTTAGTTTTTCTCATTTTGTTACCAAATTTCAAACCTTACATGGAGGTTATTATAGTATATTTGACACCCTATATACCTGTGATTAGAGATGTGTATATATATGAGGGCTAG
GCATGCTGTGTGTCTGAGCTTTGTCTAAATGTTATGCAGAAGTTTGTAGAGTTAAAGGTACGTAGGTTTAATTCATGCAAGGTAAACAATAAGTGCTCTCTTTTATACAATATGCATTGCATCTGGAC
CTTAAACTTATAAAAATGGTCAGTGAAACTTCTGTGAACATGAAGAAATTATTAAAAAAGGCATTTAAATGAAATTTGCTAAGTTGTGATTTTTATGGTTGGAACCAAAGTTATTCAAATAGTAAAAG
GAAAAAGAAAGAAAAAGGAGATCTCCCATAATATTTTTCTGCATCTGTTTGCTTTGACTGAGTAGGCGTTTTGTCATTATTGTGTATATGAGATGTACTTGTATCGTTCATAATATATTTTTTTTATT
ATGTGTAGAAAGATTTTAAAAAACTAACGTGCAGCAATTTCCAGTGAACCTGTACTTGGACATCAGGTAGTGAGTCTATTTGTGGTCACTAGCACTGTCTCCTAAACTTGTAAGAGGTCTGAAGCTAT
TCTTTGATTTTTGCTAGTGCTATTAACTTATGTAGACCTGTTAAAAAGCAGAGCAACACAATTATAGTTATCCTACTGAGCCATGGATTCTGAGTTTTGTTTTAAAAGTGAAAGCCAAGTTGGTGTAT
GTAAAGGATTTCCATGTAGCTGTGGTGCTAGTTATTACTGGCTACATTATATGCTAAGTGTATTTGTGTTCCCCAAGTGTACAAGCCTTCTATCAAAAGTATGTTCTATAACTCATATATTCAAGGTG
TAGGGTATGAAAATGCAAAGTTTAGGAGAGCACTTTACCAAGCTGGTGTCCTCCAAACTGAAATTGTTTGTAACGATAGTCTTTTACAGGTTTTCCTTTAAAGATGTTTGTGTGCTTTTAATTGACAA
CTAACTTCTTGCTGCTGTATAGTAAAATATTAATATATTTTTATCATTAAACTGCTGCATGACTATCATCTTTGAGTGAAGAGAAAATGTTATAAAAAAGATGCCTTAAACAGTACATTTTGGTTTGG
AATTCTGTAGAAAGTATTTTGGTAAAAAAAAAAAAAAAAAAAAAGGGTCTTGTCTGACAGAGAGTTCTGGGGATGGAATTGTTTCTTGGCAAATCCAGCCATATAGATCTAACTGCTGTATGTATAAG
ACACCACCTGTAGGAGCGGGAAGGTATCAGTGCTTCTTATATTGTAAAGCATTGGCCTAGGAAGGCAAACAGTTGTCTTTTTGAAGGATTTTTTTCTGCTGGTCCTTTGGGTTTTGATTTGATATTTT
TATGCTCCCTGGTTGAGTGTGTTGTCTTCGTTTTTGAGATCTACTGTATGTGTTGAATAACAAGCTATTTTCATTGTACTGTGCATTTTCCCATTAAATTGTTTGCTTTTAATATTCAATGTTAAATA
TGAGGTGACCGTACAGTAGTTAGGAGTTTCTTTACTTACAAAATCACTGGAAATGATTAAATTGCTTTTCCCCCTCCCCAGAGGTGCATTTTTCTTATTTCCATATAGTAAAGTTGAGCTTTTACAGT
GCATAATGTGACATTTGGAATGCTTATCAACTGCATGTAAACATTAATAACCTGCACTTTTTTGTCTTAAGGTTTGTTGAGCTGTTTTGTTCACTGTACTTTAACTGTGATATGGAAAAGACTGCATT
CTCTGTGCTGTTACTAATTAGGAAAGAGAATTGCTTTGATTTTGTCTCTTGTTTACTATAGCTTCTTAAAGTTAAGCCTTGTACTACAGGTTGTTGGAGTACTCCTAGATCACTGTTTCATAGTAGCC
AGCAATAAGTAGTGCAAGTCAACAAAAACACAGCAAACTTAGGCAAAGTGTCCTTTCTTTGAGATGCGAGTTCTTTCATGAGGTTTTCTTTAGGGCCAGAGTTACCTAAAGTGAAGCCTTTCTTATCT
ATAGACTTCAGATTCTGCTTGGAATCCCACCGGCTCAAGAAGCACATGTATTGTGCAATTAATTGTCTTTACACTAAAACAGTTTAATACAATCTAACTACGATTTTGAAACCAGTGTCTGATTTATG
GTCAGTGGGTTTAAAAAGAAATCCACATGCAGATCTTTTAAGACTTAAAAAGTGATCATAGAAAAGACTAAGTGACTGTAAAGATGCTCTTTTTTTAAGCATCTCACTTTACCTCCCCAAGCACCCTC
CCAAACCTTGTCTTCCCTCTTCTGTTGCATCCTTTCCCTACCCTTCCCTCCCAGGTGCTCGGTACTTTACCTAGTTTCTATATATCAGTGTTTTATGTTGGAATTTTTCCTTGTTTTTATTTTACTAG
TTGGTAAACCCTGTTTATGCTGAAACAAATAAGGAAATGGTATATTTGACCATATGTGTTATTCATAGAAGACAGTATGATCAAATGTGCCAAAAACAAGCAAACAAAACTTAATTCCTGAGAAGTAT
GCCTTATTTTTATTGATCTGCTTTGTCTTACAATTAAGGTCCAAGAGCTTGGTTAAACTGTATTATTTGCCTAAGTATAAAAGAAAACTTGAACTGCATTGCAATATTGACGTTCTTTAAAATGAGAG
ACACTGTCAAGTAATTTAATCCAGAGATCAGCCACCAGATTTGAAATGCTTATGTATGTGTGTGTGTTTGGAGTTGTTTTTTTCTTTTAAATCACCAAATTTTTTTTAAGCTACTTTTTATTTGTGCC
TCCTATTTATCATGCTGATGTTAGAAGCAGCAGTCATCCAGCCACAGAGGGAGCTAAAGTTAACTAACCAGAACTGTAGAAATCATTATACATGCCTTTGACAACAAAGGAAGTTCATAAGAAAAGCC
ATGTCGGCTTTTCCTCTACTAGATACAGATTGGAGGTAGATGAATATTTGCCAAATGGAAAAAAAGACAATGCTAGTCAGAAAAGACAAACTGTTTTCCAGCTTCTCAAAAAGCCATGGAGAGTAGAA
ACCAAAACCAACAGGGAAATAAAAAACCTTGAAAGTCTCACTTTCTAGTTGTCCCATGCAGGGGTTGAAATTTGATTCCAAGCGGAAAGTATATTATGTTTTTTCAGGCCTTCACATCTAGAGAGATG
GATAACTTCCAATTTGATTTTTCAGGTAATAGAGAAAGCTGCTAGTAATTTTAACCCCTGCCTAAAGAAGACATATACTTCATTTGGGAGCAAATACTTATTGCCTTGAAAAGTAGCACTGTAATAGC
CTATGATAATTAGTTGTAGAATAACCTTTATCCCTTTCAAACTATGCAAATTATTAAATAAGTGTAAATTAGGATTCAATTAAAGATAGTTGATTATATTGCAATCAGATGGCATTCACAAACTTAAC
TGGAGCATATACAAATATATTAGTCTAAGTTTTGTATGCTAACAGAAAGATATAATTTAGCTACCTATTCTAAAAATGGTGAATATTATTAATATTGTATAATAGGAGTGGGAAGACTGCCTCCTTTT
TTGAAGAGAGAGATTAAGGATTTTTATAATTGTTTTTCATCAAATTTTAATATTTTTGTCAAATTTTTAGGTATTTAATTTGTAAAACAGTTTGCTTTGTACTGGCATACAGAAAATAGGGTATTGAT
TTTAAACTTTTTGAAGCCAAGTGATCAAGTACATTTGTAATAAAAGTCAATGGATCTATATCAGTTGTACTCACTGTTTTCATTTCTTATTAATATAGGGATGCTGTACTTTTTCTTAAGGAAAACTG
AATTAAATTTGGGTGGAAGGGAGGGGGAAAAGATAAATCCGTTGATAATGAGAATCTGGGTGGGTATCATGGCCCAAGCACTTTATATCATTTTTTAAGTCAGTTAAGATTTGATATATTTTAAAAGA
TACTATGTCAACTTTTTTCTTCCTATTTTCTTATGTAACTTGACGTTTGGGGGGATTATCTCATTCATTTTTGTTTGTGTGCTTTTAACATTTTGTGTTTTGGCCCTGTTCAAACTTTCTAAACACAT
TTTTCTTTTATGACATTTTGGGTTATCTGCTAGACCTGGTGACCCCACCATATGGGCATGATTATTTTTATCTTCCACACATGGTTCACCTTCTTGTCTACAATATTCCCACTCATTTTTTCAGGTTA
TATATACACACACATTTCCAGATAATTTTAGAATGGGGCTATCTGAAATTGATGGTCTAGTAGCTTTCATAGCTCCACAATTCATTTTATTTTACATGTGAACATAATTTTAAGATTTTCTTCACCAT
AAAAAGTGAGATACCAAGTCTAATGACTTTTTTCCCTTTTTAAAATCTTTTGAGTATCAGAATGAGACCTTGCTATCTATGTAAAAGGATGCTAAAACAAGGGCATCTGTAGCAACTTAGGTTTGGAA
TAGTTGGTGATGACTCTGAGTATAACATTTATAGTTTATTATCCCTAAATTTGAATATCTTCATAATTTGGAGAGAGATGTATACACACACATACACATATATATGTATATATACATTGTGTGTGTGT
ATATGTATATAGATACACACATCTCCTTGAGAGTGGAATAAGTAGGAGAGATAATTTATTGGAATTGCTTACATAGATAAATTCACCAAAGTTATTTGTGTAGATTTGTTAAAGTGTATCAATTTTTA
AATCACAATATTTCTGTTTTCTTCATTGCATATTAACCAAATTTTGGCCATTCATAAGTATGCTATAAAACTAAAGTGATCACTGCTATTCACGAATTATTATAGAATCTTCTTTGCAGATTTTGTGA
TATATTAAGAAAAGCTGATTTTAATATTAATATTTAAGAAGTTATTTGATCCTGAAAACCTAAATTTAAGGTATAGGCCATTTGACACGTCCTTTTTGAACAGAAATTTCATTACAGGCTAAGTGAAA
ATAAGCCAGAATTAGCATGAGTCAGGTAGAATTTCATGATAAAAGAACAACCAGATGAAATAAGAAATAATGATTGGTTTCAAGCCAATGAATCTGCTAAGCTAACTACCAAGTTTTGATGTTGAATG
GTCCAGGCAATTTATGTCTTTAGGAAAGCTGAGTGTGGCAAAGGTCACTTGTTAACATTTTTCTTAACAAGAATGTCATAACTACTCATTCATTTTTATTTTGTCCCCACGTTTGGTATTTGTTTTGT
TTTGTGTTTTTCCTTCCTGATGTCCTTTGCTTTTGTGGAAGATTGTCCTGTTGATAGGCAGAAACATGGTGGTGATCCTCTATGTAAAATATAGTTGCTTCTTACACATCAGAAGTATTTCACTCATT
TTGGAATCACAGGATTTTCATGTTTTCATAAATACACACATTGTTTTGATAATTATTAGCAATTAGCTTATTTTGTAGCATTAGATGGAAAAATGTTTAAGCTAAAGAGTTTAATTTTCTTGATTTTG
GTTCCACTTTAATAATTCAAGAGGCCTCCAAGTTCAAGGACCAAGTCCTTCTATTTTAGAATTGTGAAAAACATGGAAATACTCTTGTTAGTGTGTGTTTTGGTCTAAGGTAGATTATTAACACAGAA
GGATCCTAGGAGGATTTAAGAAAATATGTCCTTATCGTGAAGTGGCAGTTAAAGTTATGGGACAGGTGAATTACCTATTCATCTTGACTAGCTCAAACAATGATAGCCATCAGCTAATGACTTATCAG
ACACATGTTGAGTTTGGGTCAAACTCCCATTCAGCTGGAGTGGATTGGCAATTTTAAATGCAGGTAGTTGGTGGTGGTACTTGACCTACCTCCTTACCATGTACATCTGGCATCTTCTCTCTCCTATC
CTTTTTCTTTGTTTCTCTCTCCACTTTTACTCTTGCTGTAGGCCTACCAGTGGCACTCAAGCTTACTTCTTCAGAGAGAAGTAAAGAAATTTCTGACTCCTGCCTTAGAACATAGCTAACTGATGATC
CAGAACAATTTCAGTATTATGAGGTAACTGGGCAGTTTTTTTCTGATTGCTATTTTCCCCATAGTCTTAAGCTGGCAGTTTGAAGGTATCTAAATTAATGTTAAGAAACTTGTGAACTGAAGAGAGTA
AGAAGTATGTGTATTTTAGGTAAGTTACTGGGAACTGAGACTTACTGGTTTGGAAATTGGAGAGTAGGACGAGGAGAGCTGTTTAATGTGTTTGTGGATGGGGGTTTGAGAGGTATATAGAGAATGGT
TTGGAAATAAAGTGAGAGGAATTTTTACTAGAGGTAGGAAAAGGTACTATGATGGAGTCCGAATGAGAGTTATTTGCTAAGGAAATGAAGTTGATCTTCACTAAGGAAGTTTCAATAAAGCCAGAGAA
AATGGGTCCCTCATTGATTATGAGAAAGCTGTTAGTTACTATAGCTAGAGTTATGATAATGATCATGCATTATACAAGTCTGTTTTCATGTATAGGATGTCTGCTTTTCTGGGACAAATTAGCACAAT
TGTGGAATGACAGCTTTTCTGGTCAAGGCAAGTGGATGCTGGGGAGTTATTATTTTGAGGAAAAGAAAATTTCAAGCTTTTCACCATTATTCTTTTTAAACTATCAGAAATATTTATCACACATACTA
TCTATTTTCTTGGGCTCTTGTTACAATGTAGTTTACCTTTACTTTTCAAATGGTCCTTAGATCAAATTATTTGATTTTGTACTCCACAAAGACACATATTATTCCTTGCTTTTATAGAATTTTGAGAC
TTTGGCCCACACAAATTTCTTAGAAGACAATAAACCAGGTAAAAACACTAACTTGCAATTTTAGGTGTCTTTTTTATTTCTTTTACATTTGCATCCGTAGCAACCATTTAACCTTGTAGACCTTATGA
GGCCCTCAATAATACTGTATTTCTAAAATTAGACAACATACCCCCCAAACTCATGTTTCTGTTTCCCTACTTTCTCTCTTACTTTAAAATTGTAGTATTCCCAAGAGTTCAGTGGTGGCAAATGTTAA
TAAAATAAGTTAGTACATTTTGGAGGTTCTTATATCCTTTGTAGGGTAAGCTGATAGTGTTTAGATTTCTGTTCCCATTATTCCAGTAGTGTTTTAAATTATTTAAGATAAATAATTACTGTAATGTT
TGTTTTTAAGTTACATAATTCAAGTATGTTTGGATTAACTCTTTGTTGTCAAATTTAGTATGGATTTATTCCTGGTGATTTGGACAGATTACTTTGAAGTTTCATTTTACTCACATCTCTATATATTA
GTGATAAAAATCTCTTTTAAAAATAGCAAAAAAGTGGTTCTGATTTTGTACTTTGAAGGTAATTTTTCTTTTTTACGAATGTCAGGTTCATTAACAATAGCAGGATTATTTTTACTATAGCTTATTTT
GTAGAGTTGGCACTTTAGTATAATTTTCACATTTTATTGTGTCAGATTTTAAATTATAATAGTTATATACTATAACTCATTTAAGTCAATGCAAAGCCTTCTTAAATAGCCCCTCCCTTAGAAATTTG
TTTAAAAAGAAGTGAATTCCCAAACCTGTGTCAAGAACTTGTGATTTAAATGACTGTGAGACAAGTCCTTGAAAGGCTTAAGTCTAGTCAGTGGAGATAAATGATAGCCCATTTCCATGCTGCATATA
GTTGTTAGGGTTTATAAAGTTGTCAATGTGTAAAAGTGCAAAAGCAGGAAAGACTAAAGTTGCCTGTAAAATTTCTAGTTTTCATTATTTGCACTATTTATCTTTGCACTTGATTTTTTGAAAGTTAA
GGCTAGTCACTTTCACTTTTGTTTCTAGTCTTTTCTAATTTCTTGCAGAATTGTGTTTTCAATATTCCACCCAAAGCAAAAATTATATGCAATTAAAAATATTTTATAAGGCCAAGAAAATATTTCTT
AATGTTAGCTGTATAAAACAAAAATTTGTTCTGATAAAATTTTTAATATGGGCCTTTATTTGCCAATAAAATCCTTTGTAAATGTGAGCTTTATTAAACTGTTTAAATAGACAAAGTTAAAGCTTAGG
ATAGGGAATATATATGTATGTGTATATGAAATGATGTCTTCGAGTTTTAACTTCCAGCCTGAGATGGCCTAGATTTGGTGTGTTAGTTTGTTTCACTGAAGTCAGTGAGATAGGAGTCTAGCTGGGTA
CATGCTTAAAAAGCTGGAAGTGAAGTGGGTGGCAAGTGGCAGCTCCCTCTTTCATGTAGTTTTCCATAATGTTCATATAGTTTCCTTATGGTCTAAGTGTTACAACTGGTTTTCAAGTTGTTATATTG
AATATTCCTTTTTGGAATTCAGGGTTGAATCACTTTGAGGGGGAAGGGAAGCAAGGGCAAGAGACTTTATTTTAACCAGATGCGGTCTTATGACCTCAAAGATGTGCTCTAGAAAGAAAATAACAAAA
AGTGTACCTGTGAACATATTTTTTGTCTTGGTGATATTATGCAACACAGTGTTCAGAATTGCAAAAAAATTTAAAAATTGATAGTTTTATCAATGGAACAGAGAGATGTGTTTTTGGCTAAAATTATT
TTTTGTAAGTTATTTGGTTATTTCATTTTATATTCCCTTTCCCATAGCTTTGTACACACCTCATACTTAAAACCAAGTGAGAGGCCTCTTTTCAGATCTGGTTTATTTTTGGAATGCCTGAGTGTGTT
TCCAGATTGGGGGGGGAGAGGTGGTGTTTTACTTTTTGACATGCTCTTAGCATGTTTTGCTAGTCATTCTGGATCTTATGTTTGCAAATTCTGTTGAACATTCAGTGATGTATTTGAAATGAGAAAGT
CCTTTATAACATAGTGTGAATGTTTGTGGCCAATTCAATTGTGGAATCTTATGGCTTTGTTTTTACTTTGGGTAGAAGTTTAACTTCCATTGTTCAGATTTTAGGTTTATCTAGTGAAATTGTGCCAG
GTAGTTGTCTAAATATGGACCAATTTTGGGAAATGAAGATTAATAAGTGTATATTTGATTCTAGATAATCCTTTACTCAAAATCATAAGTTAAAGATTCACATCATTAAGAGTTATCTAACTTTTATG
TTGTCAAATCTTTAAATGTGGATGATATTCAGCATTCTATCTATGAATTTCCTTTAGGAAAAGAGAAAAATTCAGTCTCCAAACCTTTTCTTGGAGACAAAATTTACCACATATCGAAAATGAAAAAA
ATTTAGAAAGCGATTTGATTATTTTTTAATGGAGTTTAACCAGCTTAATTAATGATTTTTCCAGTTTGAAGCACTTATTTTCCCAATGTGAATAAAGGGAAAAGATCAGCAATTTGTCCCTGGCCTTT
TTCGAGGCCATTTTTAGTTTTCTGCCCCCATTTCCCAGTCCTGGTATAAAATGAATTACGGGTATCCCTCTAAGTCCCTATAACCCTTTTTGGGGGTCACAGATATCTTTGATAATCTGATGACAGTG
TGATGGATCCTCTACCCAAGAAAAAAAAAATGCCCATCCCTGGATAATTTTGCATACAACTTCAGGGGCATCACACATCTTCTGAAACCCAAGTTAAAGATCTCTGCTCTAAGTAAATTGTAGAGAAT
TTTAGTGCAAATCGTTGATAAAATTAGGAACCAACTATTGGCTTAAAACCTTTCATATTGGAATTATTGTTAGATGGTGGCCCCTACTAGCAAAATGTGACATTGCAACCAGCTTCGTTAGACATTAT
AACAACCAGAGAGAAGGGAAAAAAGCAAAGTTCTGAAAGCTATTTATAAGGAGTCAGGGCATCTCTAGACATGGGAGCCTTCCTGGTTCAAGGCAGGGGTCAGGGTGCCTGACAATTTCTAGCAGGGT
AGAGTTTGATAAACCACAATGCTCAGGATGCCAAGGGGTTAGCCATTATCTTAACCCCTTCCTCACCAAAAGATTTTAGTTTTGTCTGTTGGGAAACAAGATGTCACTAGGGAAAAAAA

hide sequence


Protein RefSeqs	NP_005850	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA60229	(Get FASTA)	NCBI Sequence Viewer
	AAH36087	(Get FASTA)	NCBI Sequence Viewer
	AAI10575	(Get FASTA)	NCBI Sequence Viewer
	AAI10595	(Get FASTA)	NCBI Sequence Viewer
	AAV38195	(Get FASTA)	NCBI Sequence Viewer
	EAW62076	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000332706
	ENSP00000332706.3
	ENSP00000499133.1
GenBank Protein	Q00577	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_005850 ⟸ NM_005859

- UniProtKB:

Q00577 (UniProtKB/Swiss-Prot), Q56A79 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELASKRVDIQNKRFYLDVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQ
PPDLAQAQDEPRRALKSEFLVRENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAKLIDDYGVEEEPAELPEGTSLTVDNKRFFFDVGSNKYGVFMRVSEVKPTYRNS
ITVPYKVWAKFGHTFCKYSEEMKKIQEKQREKRAACEQLHQQQQQQQEETAAATLLLQGEEEGEED

hide sequence

Ensembl Acc Id:

ENSP00000332706 ⟸ ENST00000331327

Ensembl Acc Id:

ENSP00000498760 ⟸ ENST00000502351

Ensembl Acc Id:

ENSP00000498560 ⟸ ENST00000505703

Ensembl Acc Id:

ENSP00000499133 ⟸ ENST00000651386

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q00577-F1-model_v2	AlphaFold	Q00577	1-322	view protein structure

RGD ID:

6803487

Promoter ID:

HG_KWN:51254

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000251341

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	139,473,271 - 139,474,797 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	PURA	COSMIC
Ensembl Genes	ENSG00000185129	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000331327	ENTREZGENE
	ENST00000331327.5	UniProtKB/Swiss-Prot
	ENST00000651386.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.10.450.700	UniProtKB/Swiss-Prot
	3.30.2450.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000185129	GTEx
HGNC ID	HGNC:9701	ENTREZGENE
Human Proteome Map	PURA	Human Proteome Map
InterPro	PUR-bd_fam	UniProtKB/Swiss-Prot
KEGG Report	hsa:5813	UniProtKB/Swiss-Prot
NCBI Gene	5813	ENTREZGENE
OMIM	600473	OMIM
PANTHER	PTHR12611	UniProtKB/Swiss-Prot
	PTHR12611:SF2	UniProtKB/Swiss-Prot
Pfam	PurA	UniProtKB/Swiss-Prot
PharmGKB	PA34045	PharmGKB
SMART	PUR	UniProtKB/Swiss-Prot
UniProt	A0A494C0H6_HUMAN	UniProtKB/TrEMBL
	A0A494C0X8_HUMAN	UniProtKB/TrEMBL
	PURA_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q2NLC9_HUMAN	UniProtKB/TrEMBL
	Q2NLD4_HUMAN	UniProtKB/TrEMBL
	Q56A79	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-14	PURA	purine rich element binding protein A	PURA	purine-rich element binding protein A	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar