ClinVar for MedGen (Select 934604) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362285	NM_001278512.2(AP3B2):c.1129del (p.Tyr376_Leu377insTer)	AP3B2	Deletion (nonsense)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic
Select item 3065218	NM_001278512.2(AP3B2):c.97TCC[1] (p.Ser34del)	AP3B2, LOC130057772 (S34del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 48	GUncertain significance
Select item 3064836	NM_001278512.2(AP3B2):c.1918G>T (p.Glu640Ter)	AP3B2, CPEB1-AS1 (E608* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GUncertain significance
Select item 2577043	NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)	AP3B2, CPEB1-AS1 (I182fs +1 more)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 2435024	NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)	AP3B2, CPEB1-AS1 (R21* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2434281	NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)	AP3B2, CPEB1-AS1 (Q552* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic
Select item 2431900	NM_001278512.2(AP3B2):c.1110+5G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 48	GUncertain significance
Select item 2028169	NM_001278512.2(AP3B2):c.1110+3G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2028168	NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)	AP3B2, CPEB1-AS1 (V653fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1679661	NM_001278512.2(AP3B2):c.1379-6C>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 48 +1 more	GConflicting classifications of pathogenicity
Select item 1600615	NM_001278512.2(AP3B2):c.93C>T (p.Ile31=)	AP3B2, LOC130057772	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1442192	NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 48 +1 more	GConflicting classifications of pathogenicity
Select item 1367208	NM_001278512.2(AP3B2):c.3125G>A (p.Arg1042His)	AP3B2, CPEB1-AS1 (R1023H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1342635	NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser)	AP3B2, CPEB1-AS1 (P816S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 48	GUncertain significance
Select item 1323917	NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter)	AP3B2, CPEB1-AS1 (E120* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic
Select item 1279926	NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs)	AP3B2, CPEB1-AS1 (A117fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1213709	NM_001278512.2(AP3B2):c.360+7G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 48	GUncertain significance
Select item 1098698	NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln)	AP3B2, CPEB1-AS1 (R21Q +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 48 +1 more	GUncertain significance
Select item 1034107	NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu)	AP3B2, CPEB1-AS1 (D842E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034106	NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln)	AP3B2, CPEB1-AS1 (R827Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1034105	NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro)	AP3B2, CPEB1-AS1 (A514P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034104	NM_001278512.2(AP3B2):c.1183-19T>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031455	NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter)	AP3B2, CPEB1-AS1 (Q282* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 1031454	NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp)	AP3B2, CPEB1-AS1 (A1098D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 48 +1 more	GUncertain significance
Select item 987398	NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)	CPEB1-AS1, AP3B2 (P37fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 807299	NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)	AP3B2, CPEB1-AS1 (K262T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +12 more	GUncertain significance
Select item 803113	NM_001278512.2(AP3B2):c.392_394del (p.Leu131del)	AP3B2, CPEB1-AS1 (L99del +1 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic
Select item 800531	NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer)	AP3B2, CPEB1-AS1	Deletion (nonsense)	Developmental and epileptic encephalopathy, 48	GLikely pathogenic
Select item 786277	NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr)	AP3B2, CPEB1-AS1 (S92Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 774715	NM_001278512.2(AP3B2):c.3155+10C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 444351	NM_001278512.2(AP3B2):c.2261+2T>C	AP3B2, CPEB1-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374851	NM_001278512.2(AP3B2):c.1837del (p.Glu613fs)	AP3B2, CPEB1-AS1 (E613fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 374850	NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter)	AP3B2, CPEB1-AS1 (R67*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 374849	NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs)	AP3B2, CPEB1-AS1 (L809fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 374848	NM_001278512.2(AP3B2):c.1489-245_1665+2029del	AP3B2, CPEB1-AS1	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 374847	NM_001278512.2(AP3B2):c.1110+1G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (splice donor variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 374846	NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GPathogenic/Likely pathogenic

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Items: 37