AP3B2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 2579211	GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1	AP3B2, CPEB1 +19 more	Copy number loss	Diamond-Blackfan anemia 4	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 1879302	NM_001278512.2(AP3B2):c.*94A>C	AP3B2, CPEB1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1720334	NM_001278512.2(AP3B2):c.3299C>G (p.Thr1100Ser)	AP3B2, CPEB1-AS1 (T1049S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394935	NM_001278512.2(AP3B2):c.3299C>T (p.Thr1100Ile)	AP3B2, CPEB1-AS1 (T1049I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031454	NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp)	AP3B2, CPEB1-AS1 (A1098D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416568	NM_001278512.2(AP3B2):c.3287T>C (p.Ile1096Thr)	AP3B2, CPEB1-AS1 (I1096T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070142	NM_001278512.2(AP3B2):c.3283G>C (p.Val1095Leu)	AP3B2, CPEB1-AS1 (V1076L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411518	NM_001278512.2(AP3B2):c.3280del (p.Asp1094fs)	CPEB1-AS1, AP3B2 (D138fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1536414	NM_001278512.2(AP3B2):c.3273G>A (p.Leu1091=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753240	NM_001278512.2(AP3B2):c.3273G>T (p.Leu1091=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058655	NM_001278512.2(AP3B2):c.3267C>T (p.Thr1089=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053478	NM_001278512.2(AP3B2):c.3267C>G (p.Thr1089=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675019	NM_001278512.2(AP3B2):c.3264C>T (p.Gly1088=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126463	NM_001278512.2(AP3B2):c.3254T>C (p.Met1085Thr)	AP3B2, CPEB1-AS1 (M129T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399012	NM_001278512.2(AP3B2):c.3247G>A (p.Glu1083Lys)	AP3B2, CPEB1-AS1 (E1064K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390968	NM_001278512.2(AP3B2):c.3246C>T (p.Ser1082=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475243	NM_001278512.2(AP3B2):c.3242A>G (p.Asn1081Ser)	AP3B2, CPEB1-AS1 (N1030S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965093	NM_001278512.2(AP3B2):c.3240C>A (p.Val1080=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598736	NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)	AP3B2, CPEB1-AS1 (T1060fs +3 more)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1969710	NM_001278512.2(AP3B2):c.3231G>A (p.Gln1077=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429200	NM_001278512.2(AP3B2):c.3230A>G (p.Gln1077Arg)	AP3B2, CPEB1-AS1 (Q1058R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303217	NM_001278512.2(AP3B2):c.3226_3230delinsCCCCG (p.Ala1076_Gln1077delinsProArg)	AP3B2, CPEB1-AS1	Indel (missense variant)	not provided	GUncertain significance
Select item 1429201	NM_001278512.2(AP3B2):c.3226G>C (p.Ala1076Pro)	AP3B2, CPEB1-AS1 (A1076P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626627	NM_001278512.2(AP3B2):c.3219T>C (p.Ala1073=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418287	NM_001278512.2(AP3B2):c.3212G>A (p.Arg1071Gln)	AP3B2, CPEB1-AS1 (R1071Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1592575	NM_001278512.2(AP3B2):c.3211C>T (p.Arg1071Trp)	AP3B2, CPEB1-AS1 (R1020W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1413814	NM_001278512.2(AP3B2):c.3209C>T (p.Ala1070Val)	AP3B2, CPEB1-AS1 (A1019V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645637	NM_001278512.2(AP3B2):c.3193C>T (p.Leu1065=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924369	NM_001278512.2(AP3B2):c.3190G>A (p.Val1064Ile)	AP3B2, CPEB1-AS1 (V1013I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2229275	NM_001278512.2(AP3B2):c.3187C>A (p.Leu1063Ile)	CPEB1-AS1, AP3B2 (L1044I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281940	NM_001278512.2(AP3B2):c.3181G>A (p.Gly1061Arg)	CPEB1-AS1, AP3B2 (G1042R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1910875	NM_001278512.2(AP3B2):c.3179G>A (p.Gly1060Asp)	CPEB1-AS1, AP3B2 (G1009D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955395	NM_001278512.2(AP3B2):c.3175A>G (p.Thr1059Ala)	AP3B2, CPEB1-AS1 (T1059A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325317	NM_001278512.2(AP3B2):c.3169A>G (p.Thr1057Ala)	AP3B2, CPEB1-AS1 (T1038A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2108878	NM_001278512.2(AP3B2):c.3158T>C (p.Phe1053Ser)	AP3B2, CPEB1-AS1 (F1053S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1640074	NM_001278512.2(AP3B2):c.3156-11T>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711300	NM_001278512.2(AP3B2):c.3156-15C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556413	NM_001278512.2(AP3B2):c.3155+14A>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537839	NM_001278512.2(AP3B2):c.3155+12C>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774715	NM_001278512.2(AP3B2):c.3155+10C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 48 +1 more	GBenign/Likely benign
Select item 1672473	NM_001278512.2(AP3B2):c.3155+9C>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	AP3B2-related condition +1 more	GLikely benign
Select item 2134150	NM_001278512.2(AP3B2):c.3155+8G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105874	NM_001278512.2(AP3B2):c.3151T>C (p.Tyr1051His)	AP3B2, CPEB1-AS1 (Y1032H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444913	NM_001278512.2(AP3B2):c.3145G>A (p.Asp1049Asn)	CPEB1-AS1, AP3B2 (D1030N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786277	NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr)	AP3B2, CPEB1-AS1 (S92Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 48 +1 more	GConflicting classifications of pathogenicity
Select item 736006	NM_001278512.2(AP3B2):c.3138G>A (p.Gly1046=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602610	NM_001278512.2(AP3B2):c.3132T>C (p.Pro1044=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032956	NM_001278512.2(AP3B2):c.3126T>A (p.Arg1042=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 +1 more	GUncertain significance
Select item 1556557	NM_001278512.2(AP3B2):c.3124C>A (p.Arg1042Ser)	AP3B2, CPEB1-AS1 (R1023S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1374115	NM_001278512.2(AP3B2):c.3124C>T (p.Arg1042Cys)	AP3B2, CPEB1-AS1 (R86C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026276	NM_001278512.2(AP3B2):c.3116dup (p.Asn1039fs)	AP3B2, CPEB1-AS1 (N1020fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1659784	NM_001278512.2(AP3B2):c.3114C>T (p.Ala1038=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674100	NM_001278512.2(AP3B2):c.3090G>C (p.Val1030=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402218	NM_001278512.2(AP3B2):c.3082_3084del (p.His1028del)	AP3B2, CPEB1-AS1 (H1009del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1401277	NM_001278512.2(AP3B2):c.3074G>A (p.Arg1025Gln)	AP3B2, CPEB1-AS1 (R1006Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461055	NM_001278512.2(AP3B2):c.3073C>T (p.Arg1025Trp)	AP3B2, CPEB1-AS1 (R1025W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944477	NM_001278512.2(AP3B2):c.3056T>C (p.Met1019Thr)	CPEB1-AS1, AP3B2 (M1000T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813667	NM_001278512.2(AP3B2):c.3050A>G (p.Lys1017Arg)	AP3B2, CPEB1-AS1 (K61R +3 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 1378480	NM_001278512.2(AP3B2):c.3044C>G (p.Thr1015Arg)	AP3B2, CPEB1-AS1 (T59R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951864	NM_001278512.2(AP3B2):c.3030C>T (p.Gly1010=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625622	NM_001278512.2(AP3B2):c.3017-9_3017-8dup	AP3B2, CPEB1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1996443	NM_001278512.2(AP3B2):c.3017-15_3017-13del	AP3B2, CPEB1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1641798	NM_001278512.2(AP3B2):c.3017-15G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043707	NM_001278512.2(AP3B2):c.3017-16C>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1641528	NM_001278512.2(AP3B2):c.3017-16C>T	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 1643507	NM_001278512.2(AP3B2):c.3016+17A>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031086	NM_001278512.2(AP3B2):c.3016+15G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564092	NM_001278512.2(AP3B2):c.3016+15G>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727557	NM_001278512.2(AP3B2):c.3016+8C>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2104115	NM_001278512.2(AP3B2):c.3016+4_3016+5dup	AP3B2, CPEB1-AS1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1366721	NM_001278512.2(AP3B2):c.3015G>A (p.Gln1005=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1416662	NM_001278512.2(AP3B2):c.3004AAG[1] (p.Lys1003del)	AP3B2, CPEB1-AS1 (K952del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 777464	NM_001278512.2(AP3B2):c.3009G>A (p.Lys1003=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	AP3B2-related condition +1 more	GBenign/Likely benign
Select item 1346879	NM_001278512.2(AP3B2):c.2990G>C (p.Ser997Thr)	AP3B2, CPEB1-AS1 (S997T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1638530	NM_001278512.2(AP3B2):c.2988G>A (p.Met996Ile)	CPEB1-AS1, AP3B2 (M40I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1449202	NM_001278512.2(AP3B2):c.2986A>G (p.Met996Val)	AP3B2, CPEB1-AS1 (M40V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 987398	NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)	AP3B2, CPEB1-AS1 (P37fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 48 +1 more	GPathogenic/Likely pathogenic
Select item 2531685	NM_001278512.2(AP3B2):c.2973G>A (p.Met991Ile)	AP3B2, CPEB1-AS1 (M35I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1440231	NM_001278512.2(AP3B2):c.2972T>C (p.Met991Thr)	AP3B2, CPEB1-AS1 (M35T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121214	NM_001278512.2(AP3B2):c.2968C>T (p.Leu990=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435138	NM_001278512.2(AP3B2):c.2960T>C (p.Val987Ala)	AP3B2, CPEB1-AS1 (V31A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480588	NM_001278512.2(AP3B2):c.2959G>A (p.Val987Ile)	AP3B2, CPEB1-AS1 (V31I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397514	NM_001278512.2(AP3B2):c.2957C>G (p.Pro986Arg)	AP3B2, CPEB1-AS1 (P986R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276413	NM_001278512.2(AP3B2):c.2947A>C (p.Ile983Leu)	AP3B2, CPEB1-AS1 (I27L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084903	NM_001278512.2(AP3B2):c.2941G>A (p.Val981Ile)	AP3B2, CPEB1-AS1 (V25I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1561914	NM_001278512.2(AP3B2):c.2940C>T (p.Tyr980=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359081	NM_001278512.2(AP3B2):c.2932C>G (p.Gln978Glu)	AP3B2, CPEB1-AS1 (Q22E +3 more)	Single nucleotide variant (missense variant)	not provided	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 2435024	NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)	AP3B2, CPEB1-AS1 (R21* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 48	GPathogenic
Select item 1953306	NM_001278512.2(AP3B2):c.2928C>A (p.Thr976=)	AP3B2, CPEB1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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