Related gene-specific medical variations for Gene (Select 8120) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127518	NM_001278512.2(AP3B2):c.964A>T (p.Met322Leu)	AP3B2, CPEB1-AS1 (M290L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127517	NM_001278512.2(AP3B2):c.3176C>T (p.Thr1059Ile)	AP3B2, CPEB1-AS1 (T103I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127514	NM_001278512.2(AP3B2):c.2500A>G (p.Thr834Ala)	AP3B2, CPEB1-AS1 +1 more (T834A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127511	NM_001278512.2(AP3B2):c.1178T>C (p.Leu393Pro)	AP3B2, CPEB1-AS1 (L361P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069033	NM_001278512.2(AP3B2):c.2809A>G (p.Ser937Gly)	AP3B2, CPEB1-AS1 (S886G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3046232	NM_001278512.2(AP3B2):c.771+9_771+16del	AP3B2, CPEB1-AS1	Deletion (intron variant)	AP3B2-related condition	GLikely benign
Select item 3044709	NM_001278512.2(AP3B2):c.2220A>G (p.Glu740=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	AP3B2-related condition	GLikely benign
Select item 3032162	NM_001278512.2(AP3B2):c.771+9_771+18delinsC	AP3B2, CPEB1-AS1	Indel (intron variant)	AP3B2-related condition	GLikely benign
Select item 3022004	NM_001278512.2(AP3B2):c.3189C>T (p.Leu1063=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019984	NM_001278512.2(AP3B2):c.1965C>T (p.Asn655=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012194	NM_001278512.2(AP3B2):c.1665+10A>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012125	NM_001278512.2(AP3B2):c.265-4C>T	CPEB1-AS1, AP3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011047	NM_001278512.2(AP3B2):c.972G>A (p.Val324=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009755	NM_001278512.2(AP3B2):c.265-15C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008937	NM_001278512.2(AP3B2):c.696G>A (p.Glu232=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008451	NM_001278512.2(AP3B2):c.1852+20G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007851	NM_001278512.2(AP3B2):c.99C>T (p.Ser33=)	AP3B2, LOC130057772	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002122	NM_001278512.2(AP3B2):c.189+9G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999721	NM_001278512.2(AP3B2):c.1602G>A (p.Glu534=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999189	NM_001278512.2(AP3B2):c.772-7C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998689	NM_001278512.2(AP3B2):c.2889C>T (p.Asp963=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991611	NM_001278512.2(AP3B2):c.1488+18T>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990540	NM_001278512.2(AP3B2):c.2608C>T (p.Leu870=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987511	NM_001278512.2(AP3B2):c.1379-7T>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982388	NM_001278512.2(AP3B2):c.2095dup (p.Asp699fs)	AP3B2, CPEB1-AS1 (D680fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2979247	NM_001278512.2(AP3B2):c.1971+10G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976419	NM_001278512.2(AP3B2):c.3016+20G>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974567	NM_001278512.2(AP3B2):c.1128C>T (p.Tyr376=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970466	NM_001278512.2(AP3B2):c.1666-5T>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968636	NM_001278512.2(AP3B2):c.2605-7A>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964852	NM_001278512.2(AP3B2):c.1488+15A>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964723	NM_001278512.2(AP3B2):c.1489-5C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961528	NM_001278512.2(AP3B2):c.2833+18T>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959927	NM_001278512.2(AP3B2):c.1666-13C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957467	NM_001278512.2(AP3B2):c.2115C>T (p.Gly705=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956200	NM_001278512.2(AP3B2):c.1806C>G (p.Leu602=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910837	NM_001278512.2(AP3B2):c.2322A>G (p.Gly774=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905435	NM_001278512.2(AP3B2):c.2919-6T>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896816	NM_001278512.2(AP3B2):c.1707T>C (p.Tyr569=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895633	NM_001278512.2(AP3B2):c.840G>A (p.Ala280=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891065	NM_001278512.2(AP3B2):c.300C>T (p.Tyr100=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889781	NM_001278512.2(AP3B2):c.2706C>T (p.Ser902=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880812	NM_001278512.2(AP3B2):c.1055+16A>G	AP3B2, CPEB1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875120	NM_001278512.2(AP3B2):c.190-20A>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875077	NM_001278512.2(AP3B2):c.1055+20C>A	AP3B2, CPEB1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873591	NM_001278512.2(AP3B2):c.2568G>A (p.Glu856=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867176	NM_001278512.2(AP3B2):c.1379-4G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866254	NM_001278512.2(AP3B2):c.2379G>A (p.Glu793=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864751	NM_001278512.2(AP3B2):c.369C>T (p.Asn123=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864560	NM_001278512.2(AP3B2):c.588+17G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864055	NM_001278512.2(AP3B2):c.1379-16C>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861289	NM_001278512.2(AP3B2):c.113+15C>T	AP3B2, LOC130057772	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856699	NM_001278512.2(AP3B2):c.2065A>T (p.Arg689Ter)	AP3B2, CPEB1-AS1 (R689* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2854503	NM_001278512.2(AP3B2):c.2790C>T (p.Pro930=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854052	NM_001278512.2(AP3B2):c.1080G>A (p.Gln360=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850965	NM_001278512.2(AP3B2):c.1853-17T>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844850	NM_001278512.2(AP3B2):c.1542T>C (p.His514=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842300	NM_001278512.2(AP3B2):c.2605-9C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840561	NM_001278512.2(AP3B2):c.200G>A (p.Arg67Gln)	AP3B2, CPEB1-AS1 (R67Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839211	NM_001278512.2(AP3B2):c.981C>G (p.Leu327=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839026	NM_001278512.2(AP3B2):c.877C>T (p.Arg293Ter)	AP3B2, CPEB1-AS1 (R261* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2838012	NM_001278512.2(AP3B2):c.991C>T (p.Leu331=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834565	NM_001278512.2(AP3B2):c.2979T>C (p.Pro993=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831659	NM_001278512.2(AP3B2):c.2137+14A>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831334	NM_001278512.2(AP3B2):c.772-6G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828885	NM_001278512.2(AP3B2):c.913C>T (p.Leu305=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828274	NM_001278512.2(AP3B2):c.2139C>T (p.Asp713=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826554	NM_001278512.2(AP3B2):c.522-16C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825286	NM_001278512.2(AP3B2):c.1599G>A (p.Glu533=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823052	NM_001278512.2(AP3B2):c.3156-1G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2821259	NM_001278512.2(AP3B2):c.933C>G (p.Pro311=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820518	NM_001278512.2(AP3B2):c.1111-11T>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818446	NM_001278512.2(AP3B2):c.1246-15T>C	CPEB1-AS1, AP3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816603	NM_001278512.2(AP3B2):c.1218C>T (p.Asn406=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815541	NM_001278512.2(AP3B2):c.2046dup (p.Cys683fs)	AP3B2, CPEB1-AS1 (C683fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2813450	NM_001278512.2(AP3B2):c.996G>A (p.Ala332=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808331	NM_001278512.2(AP3B2):c.2493G>A (p.Glu831=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806704	NM_001278512.2(AP3B2):c.2181G>A (p.Glu727=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802399	NM_001278512.2(AP3B2):c.772-1G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2798326	NM_001278512.2(AP3B2):c.190-1G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2797910	NM_001278512.2(AP3B2):c.1197C>G (p.Thr399=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795790	NM_001278512.2(AP3B2):c.2605-4C>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795488	NM_001278512.2(AP3B2):c.1055+15C>A	AP3B2, CPEB1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791948	NM_001278512.2(AP3B2):c.2592C>A (p.Thr864=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789754	NM_001278512.2(AP3B2):c.2475C>T (p.Ile825=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788921	NM_001278512.2(AP3B2):c.1665+17G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788663	NM_001278512.2(AP3B2):c.2485G>C (p.Asp829His)	AP3B2, CPEB1-AS1 (D810H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787765	NM_001278512.2(AP3B2):c.1335C>T (p.Asp445=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785185	NM_001278512.2(AP3B2):c.1317C>T (p.Asn439=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784837	NM_001278512.2(AP3B2):c.1437A>C (p.Ala479=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783560	NM_001278512.2(AP3B2):c.1371C>T (p.Asn457=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782799	NM_001278512.2(AP3B2):c.1971+8G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781609	NM_001278512.2(AP3B2):c.1288A>G (p.Ile430Val)	AP3B2, CPEB1-AS1 (I398V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780906	NM_001278512.2(AP3B2):c.2137+16A>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780697	NM_001278512.2(AP3B2):c.2261+10G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772968	NM_001278512.2(AP3B2):c.2261+13C>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767708	NM_001278512.2(AP3B2):c.1111-12C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764791	NM_001278512.2(AP3B2):c.2375C>T (p.Ser792Phe)	AP3B2, CPEB1-AS1 (S741F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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