APBB3[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2317255	NM_133173.3(APBB3):c.1400G>C (p.Arg467Pro)	APBB3 (R474P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313028	NM_133173.3(APBB3):c.1400G>A (p.Arg467Gln)	APBB3 (R465Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295431	NM_133173.3(APBB3):c.1393C>G (p.Arg465Gly)	APBB3 (R465G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602826	NM_133173.3(APBB3):c.1382G>A (p.Gly461Glu)	APBB3 (G468E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384057	NM_133173.3(APBB3):c.1375G>A (p.Gly459Ser)	APBB3 (G457S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320460	NM_133173.3(APBB3):c.1289G>A (p.Arg430His)	APBB3 (R437H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271729	NM_133173.3(APBB3):c.1193G>A (p.Gly398Glu)	APBB3 (G403E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127702	NM_133173.3(APBB3):c.1145G>T (p.Arg382Leu)	APBB3 (R387L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127701	NM_133173.3(APBB3):c.1145G>A (p.Arg382His)	APBB3 (R382H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127700	NM_133173.3(APBB3):c.1117A>G (p.Thr373Ala)	APBB3 (T373A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404829	NM_133173.3(APBB3):c.1108G>A (p.Asp370Asn)	APBB3 (D375N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551515	NM_133173.3(APBB3):c.1070G>A (p.Cys357Tyr)	APBB3 (C355Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655739	NM_133173.3(APBB3):c.1026C>T (p.Pro342=)	APBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364526	NM_133173.3(APBB3):c.968G>A (p.Arg323Gln)	APBB3 (R330Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127708	NM_133173.3(APBB3):c.955G>A (p.Ala319Thr)	APBB3 (A319T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336514	NM_133173.3(APBB3):c.907A>G (p.Lys303Glu)	APBB3 (K301E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358175	NM_133173.3(APBB3):c.883T>C (p.Tyr295His)	APBB3 (Y295H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620342	NM_133173.3(APBB3):c.874G>A (p.Glu292Lys)	APBB3 (E290K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376912	NM_133173.3(APBB3):c.865C>G (p.Gln289Glu)	APBB3 (Q289E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127707	NM_133173.3(APBB3):c.862G>A (p.Ala288Thr)	APBB3 (A293T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471211	NM_133173.3(APBB3):c.833T>C (p.Val278Ala)	APBB3 (V276A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322426	NM_133173.3(APBB3):c.817G>T (p.Asp273Tyr)	APBB3 (D271Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127706	NM_133173.3(APBB3):c.776G>A (p.Gly259Asp)	APBB3 (G264D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127705	NM_133173.3(APBB3):c.746A>C (p.Gln249Pro)	APBB3 (Q249P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403089	NM_133173.3(APBB3):c.730C>A (p.His244Asn)	APBB3 (H242N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336813	NM_133173.3(APBB3):c.601T>G (p.Trp201Gly)	APBB3 (W201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205228	NM_133173.3(APBB3):c.596G>A (p.Arg199His)	APBB3 (R199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356706	NM_133173.3(APBB3):c.506A>G (p.Asn169Ser)	APBB3 (N169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406009	NM_133173.3(APBB3):c.487G>A (p.Ala163Thr)	APBB3 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127704	NM_133173.3(APBB3):c.469A>C (p.Ser157Arg)	APBB3 (S157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127703	NM_133173.3(APBB3):c.452C>T (p.Ala151Val)	APBB3 (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274935	NM_133173.3(APBB3):c.404C>G (p.Ala135Gly)	APBB3 (A135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267839	NM_133173.3(APBB3):c.389C>G (p.Pro130Arg)	APBB3 (P130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359540	NM_133173.3(APBB3):c.364C>T (p.Arg122Cys)	APBB3 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228513	NM_133173.3(APBB3):c.344G>A (p.Gly115Glu)	APBB3 (G115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350378	NM_133173.3(APBB3):c.327C>G (p.Ile109Met)	APBB3 (I109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424471	NC_000005.9:g.(?_139930285)_(140078137_?)del	APBB3, CD14 +9 more	Deletion	not provided	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA12, PCDHA13 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARSK, CSNK1G3 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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: 54