"Ambry Genetics"[submitter] AND "AP3B2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1414360	NM_001278512.2(AP3B2):c.2905A>G (p.Asn969Asp)	AP3B2, CPEB1-AS1 (N13D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360515	NM_001278512.2(AP3B2):c.2834-3C>A	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1899559	NM_001278512.2(AP3B2):c.2827G>A (p.Glu943Lys)	AP3B2, CPEB1-AS1 (E892K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1522588	NM_001278512.2(AP3B2):c.2788C>T (p.Pro930Ser)	AP3B2, CPEB1-AS1 (P879S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203966	NM_001278512.2(AP3B2):c.2771G>T (p.Gly924Val)	CPEB1-AS1, AP3B2 (G873V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366309	NM_001278512.2(AP3B2):c.2738A>T (p.His913Leu)	AP3B2, CPEB1-AS1 (H862L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1411141	NM_001278512.2(AP3B2):c.2731C>T (p.His911Tyr)	AP3B2, CPEB1-AS1 (H860Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2196783	NM_001278512.2(AP3B2):c.2651G>A (p.Arg884Gln)	CPEB1-AS1, AP3B2 (R833Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1487034	NM_001278512.2(AP3B2):c.2437C>T (p.Pro813Ser)	CPEB1-AS1, AP3B2 (P762S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 546760	NM_001278512.2(AP3B2):c.2422T>C (p.Trp808Arg)	AP3B2, CPEB1-AS1 (W808R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1350927	NM_001278512.2(AP3B2):c.2397G>C (p.Glu799Asp)	AP3B2, CPEB1-AS1 (E780D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1381367	NM_001278512.2(AP3B2):c.2364C>A (p.Ser788Arg)	AP3B2, CPEB1-AS1 (S788R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1482751	NM_001278512.2(AP3B2):c.2320G>A (p.Gly774Arg)	AP3B2, CPEB1-AS1 (G774R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1361361	NM_001278512.2(AP3B2):c.2239G>A (p.Glu747Lys)	AP3B2, CPEB1-AS1 (E747K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1485085	NM_001278512.2(AP3B2):c.2212G>A (p.Asp738Asn)	AP3B2, CPEB1-AS1 (D687N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2552507	NM_001278512.2(AP3B2):c.2105G>C (p.Gly702Ala)	AP3B2, CPEB1-AS1 (G651A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530033	NM_001278512.2(AP3B2):c.2103G>C (p.Glu701Asp)	AP3B2, CPEB1-AS1 (E650D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308887	NM_001278512.2(AP3B2):c.1966G>A (p.Val656Met)	AP3B2, CPEB1-AS1 (V624M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264824	NM_001278512.2(AP3B2):c.1940A>C (p.Glu647Ala)	AP3B2, CPEB1-AS1 (E647A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1430613	NM_001278512.2(AP3B2):c.1783C>T (p.Leu595Phe)	AP3B2, CPEB1-AS1 (L595F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2228557	NM_001278512.2(AP3B2):c.1579G>T (p.Ala527Ser)	CPEB1-AS1, AP3B2 (A495S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335325	NM_001278512.2(AP3B2):c.1445G>A (p.Gly482Glu)	CPEB1-AS1, AP3B2 (G450E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1466920	NM_001278512.2(AP3B2):c.1144A>G (p.Ile382Val)	AP3B2, CPEB1-AS1 (I350V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 736473	NM_001278512.2(AP3B2):c.1111-5G>A	CPEB1-AS1, AP3B2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 752742	NM_001278512.2(AP3B2):c.1056-6C>T	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2554656	NM_001278512.2(AP3B2):c.983A>G (p.Tyr328Cys)	AP3B2, CPEB1-AS1 (Y296C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1397415	NM_001278512.2(AP3B2):c.964_975dup (p.Met322_Ala325dup)	AP3B2, CPEB1-AS1	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 2537013	NM_001278512.2(AP3B2):c.966G>A (p.Met322Ile)	AP3B2, CPEB1-AS1 (M290I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274817	NM_001278512.2(AP3B2):c.875C>G (p.Ser292Cys)	AP3B2, CPEB1-AS1 (S292C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1450340	NM_001278512.2(AP3B2):c.821A>C (p.Glu274Ala)	AP3B2, CPEB1-AS1 (E242A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182448	NM_001278512.2(AP3B2):c.775T>C (p.Ser259Pro)	AP3B2, CPEB1-AS1 (S259P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2232062	NM_001278512.2(AP3B2):c.589-5C>G	AP3B2, CPEB1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2596605	NM_001278512.2(AP3B2):c.79G>A (p.Ala27Thr)	AP3B2, LOC130057772 (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1654456	NM_001278512.2(AP3B2):c.33G>C (p.Lys11Asn)	AP3B2 (K11N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 44