ClinVar for MedGen (Select 934604) - ClinVar

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Items: 32

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25770431.	NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs) GRCh37: Chr15:83349719 GRCh38: Chr15:82680967	AP3B2, CPEB1-AS1	I182fs, I214fs	Developmental and epileptic encephalopathy, 48	Pathogenic (Jul 14, 2023)	criteria provided, single submitter
Select item 24350242.	NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter) GRCh37: Chr15:83330664 GRCh38: Chr15:82661912	AP3B2, CPEB1-AS1	R21, R926, R958, R977	Developmental and epileptic encephalopathy, 48	Pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 24342813.	NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter) GRCh37: Chr15:83335601 GRCh38: Chr15:82666849	AP3B2, CPEB1-AS1	Q552, Q584	Developmental and epileptic encephalopathy, 48	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 24319004.	NM_001278512.2(AP3B2):c.1110+5G>A GRCh37: Chr15:83348922 GRCh38: Chr15:82680170	AP3B2, CPEB1-AS1		Developmental and epileptic encephalopathy, 48	Uncertain significance (Nov 10, 2022)	criteria provided, single submitter
Select item 20281695.	NM_001278512.2(AP3B2):c.1110+3G>C GRCh37: Chr15:83348924 GRCh38: Chr15:82680172	AP3B2, CPEB1-AS1		not provided, Developmental and epileptic encephalopathy, 48	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20281686.	NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs) GRCh37: Chr15:83334221-83334222 GRCh38: Chr15:82665469-82665470	AP3B2, CPEB1-AS1	V653fs, V621fs	not provided, Developmental and epileptic encephalopathy, 48	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16796617.	NM_001278512.2(AP3B2):c.1379-6C>G GRCh37: Chr15:83346141 GRCh38: Chr15:82677389	AP3B2, CPEB1-AS1		Developmental and epileptic encephalopathy, 48, not provided	Conflicting interpretations of pathogenicity (Jul 29, 2022)	criteria provided, conflicting interpretations
Select item 16006158.	NM_001278512.2(AP3B2):c.93C>T (p.Ile31=) GRCh37: Chr15:83378366 GRCh38: Chr15:82709614	AP3B2, LOC130057772		not provided, Developmental and epileptic encephalopathy, 48	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14421929.	NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=) GRCh37: Chr15:83335584 GRCh38: Chr15:82666832	AP3B2, CPEB1-AS1		not provided, Developmental and epileptic encephalopathy, 48	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 134263510.	NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser) GRCh37: Chr15:83331884 GRCh38: Chr15:82663132	AP3B2, CPEB1-AS1	P816S, P848S, P867S	Developmental and epileptic encephalopathy, 48	Uncertain significance (Feb 26, 2021)	criteria provided, single submitter
Select item 132391711.	NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter) GRCh37: Chr15:83350239 GRCh38: Chr15:82681487	AP3B2, CPEB1-AS1	E120, E152	Developmental and epileptic encephalopathy, 48	Likely pathogenic (Mar 2, 2021)	criteria provided, single submitter
Select item 127992612.	NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs) GRCh37: Chr15:83350245-83350248 GRCh38: Chr15:82681493-82681496	AP3B2, CPEB1-AS1	A117fs, A149fs	not provided	Pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 121370913.	NM_001278512.2(AP3B2):c.360+7G>A GRCh37: Chr15:83357481 GRCh38: Chr15:82688729	CPEB1-AS1, AP3B2		Developmental and epileptic encephalopathy, 48	Uncertain significance (Sep 23, 2020)	criteria provided, single submitter
Select item 109869814.	NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln) GRCh37: Chr15:83330663 GRCh38: Chr15:82661911	AP3B2, CPEB1-AS1	R21Q, R926Q, R958Q, R977Q	not provided, Developmental and epileptic encephalopathy, 48	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103410715.	NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu) GRCh37: Chr15:83331600 GRCh38: Chr15:82662848	AP3B2, CPEB1-AS1	D842E, D874E, D893E	Developmental and epileptic encephalopathy, 48, not provided	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103410616.	NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) GRCh37: Chr15:83331646 GRCh38: Chr15:82662894	AP3B2, CPEB1-AS1	R827Q, R859Q, R878Q	Developmental and epileptic encephalopathy, 48, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 103410517.	NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro) GRCh37: Chr15:83345242 GRCh38: Chr15:82676490	AP3B2, CPEB1-AS1	A514P, A546P	Developmental and epileptic encephalopathy, 48, not provided	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103410418.	NM_001278512.2(AP3B2):c.1183-19T>G GRCh37: Chr15:83346938 GRCh38: Chr15:82678186	AP3B2, CPEB1-AS1		Developmental and epileptic encephalopathy, 48, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 103145519.	NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter) GRCh37: Chr15:83349339 GRCh38: Chr15:82680587	AP3B2, CPEB1-AS1	Q282, Q314	Developmental and epileptic encephalopathy, 48	Pathogenic (Jun 26, 2018)	criteria provided, single submitter
Select item 103145420.	NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp) GRCh37: Chr15:83328325 GRCh38: Chr15:82659573	AP3B2, CPEB1-AS1	A1098D, A1047D, A1079D, A142D	Developmental and epileptic encephalopathy, 48, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98739821.	NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) GRCh37: Chr15:83330614-83330615 GRCh38: Chr15:82661862-82661863	AP3B2, CPEB1-AS1	P37fs, P942fs, P974fs, P993fs	not provided, Developmental and epileptic encephalopathy, 48	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80729922.	NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) GRCh37: Chr15:83349398 GRCh38: Chr15:82680646	AP3B2, CPEB1-AS1	K262T, K294T	Developmental and epileptic encephalopathy, 48, Gastroesophageal reflux, Abnormality of speech or vocalization, Generalized hypotonia, Abnormality of eye movement, Autism, Delayed speech and language development, Global developmental delay, Hypotonia, Feeding difficulties, Microcephalynot provided, ...see more	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80311323.	NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) GRCh37: Chr15:83350299-83350301 GRCh38: Chr15:82681547-82681549	AP3B2, CPEB1-AS1	L99del, L131del	Developmental and epileptic encephalopathy, 48	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80053124.	NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) GRCh37: Chr15:83349685-83349686 GRCh38: Chr15:82680933-82680934	AP3B2, CPEB1-AS1		Developmental and epileptic encephalopathy, 48	Likely pathogenic (Nov 15, 2018)	criteria provided, single submitter
Select item 78627725.	NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) GRCh37: Chr15:83328609 GRCh38: Chr15:82659857	AP3B2, CPEB1-AS1	S92Y, S1029Y, S1048Y, S997Y	not provided, Developmental and epileptic encephalopathy, 48	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 77471526.	NM_001278512.2(AP3B2):c.3155+10C>T GRCh37: Chr15:83328587 GRCh38: Chr15:82659835	AP3B2, CPEB1-AS1		not provided, Developmental and epileptic encephalopathy, 48	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37485127.	NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) GRCh37: Chr15:83335514 GRCh38: Chr15:82666762	AP3B2, CPEB1-AS1	E613fs, E581fs	Developmental and epileptic encephalopathy, 48	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 37485028.	NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter) GRCh37: Chr15:83357975 GRCh38: Chr15:82689223	AP3B2, CPEB1-AS1	R67*	Developmental and epileptic encephalopathy, 48	Pathogenic (Nov 19, 2020)	no assertion criteria provided
Select item 37484929.	NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs) GRCh37: Chr15:83331901-83331904 GRCh38: Chr15:82663149-82663152	AP3B2, CPEB1-AS1	L809fs, L841fs, L860fs	Developmental and epileptic encephalopathy, 48	Pathogenic (Nov 19, 2020)	no assertion criteria provided
Select item 37484830.	NM_001278512.2(AP3B2):c.1489-245_1665+2029del GRCh37: Chr15:83343184-83345634 GRCh38: Chr15:82674432-82676882	AP3B2, CPEB1-AS1		Developmental and epileptic encephalopathy, 48	Pathogenic (Nov 19, 2020)	no assertion criteria provided
Select item 37484731.	NM_001278512.2(AP3B2):c.1110+1G>C GRCh37: Chr15:83348926 GRCh38: Chr15:82680174	AP3B2, CPEB1-AS1		Epileptic encephalopathy	Likely pathogenic (Jan 1, 2014)	criteria provided, single submitter
Select item 37484632.	NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) GRCh37: Chr15:83348481 GRCh38: Chr15:82679729	AP3B2, CPEB1-AS1		Developmental and epileptic encephalopathy, 48, Epileptic encephalopathy	Pathogenic/Likely pathogenic (Nov 19, 2020)	no assertion criteria provided

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Items: 32