APBB1[gene] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 2980	NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)	APBB1, SMPD1 (R498L +4 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +4 more	GPathogenic/Likely pathogenic
Select item 198093	NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	APBB1, SMPD1 (R610del +3 more)	Microsatellite (inframe_deletion +2 more)	not specified +3 more	GPathogenic
Select item 3127670	NM_001164.5(APBB1):c.2107A>G (p.Lys703Glu)	APBB1 (K468E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301624	NM_001164.5(APBB1):c.2084C>T (p.Ser695Leu)	APBB1 (S436L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127669	NM_001164.5(APBB1):c.2082G>T (p.Gln694His)	APBB1 (Q692H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532873	NM_001164.5(APBB1):c.1990G>A (p.Ala664Thr)	APBB1 (A442T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301531	NM_001164.5(APBB1):c.1969C>T (p.Arg657Cys)	APBB1 (R422C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127668	NM_001164.5(APBB1):c.1928C>T (p.Ala643Val)	APBB1 (A421V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301672	NM_001164.5(APBB1):c.1918G>A (p.Glu640Lys)	APBB1 (E418K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127667	NM_001164.5(APBB1):c.1882G>A (p.Gly628Ser)	APBB1 (G393S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127666	NM_001164.5(APBB1):c.1819C>T (p.Arg607Cys)	APBB1 (R385C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127665	NM_001164.5(APBB1):c.1742G>T (p.Ser581Ile)	APBB1 (S346I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373439	NM_001164.5(APBB1):c.1691G>A (p.Gly564Glu)	APBB1 (G344E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207048	NM_001164.5(APBB1):c.1654C>A (p.Pro552Thr)	APBB1 (P317T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301663	NM_001164.5(APBB1):c.1537G>C (p.Val513Leu)	APBB1 (V291L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127664	NM_001164.5(APBB1):c.1529G>A (p.Arg510His)	APBB1 (R275H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127663	NM_001164.5(APBB1):c.1520G>A (p.Arg507His)	APBB1 (R507H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127662	NM_001164.5(APBB1):c.1517G>A (p.Arg506Gln)	APBB1 (R504Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127660	NM_001164.5(APBB1):c.1447C>T (p.Arg483Cys)	APBB1 (R261C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773807	NM_001164.5(APBB1):c.1440C>T (p.His480=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3301644	NM_001164.5(APBB1):c.1363G>A (p.Val455Ile)	APBB1 (V220I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520993	NM_001164.5(APBB1):c.1351C>T (p.Arg451Cys)	APBB1 (R451C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361387	NM_001164.5(APBB1):c.1319C>G (p.Ala440Gly)	APBB1 (A220G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525504	NM_001164.5(APBB1):c.1275G>A (p.Gln425=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3045487	NM_001164.5(APBB1):c.1234A>G (p.Met412Val)	APBB1 (M153V +3 more)	Single nucleotide variant (missense variant +1 more)	APBB1-related disorder	GLikely benign
Select item 3033437	NM_001164.5(APBB1):c.1187A>G (p.Asn396Ser)	APBB1 (N137S +3 more)	Single nucleotide variant (missense variant +1 more)	APBB1-related disorder	GLikely benign
Select item 2619560	NM_001164.5(APBB1):c.1175T>C (p.Val392Ala)	APBB1 (V172A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219814	NM_001164.5(APBB1):c.1156G>A (p.Ala386Thr)	APBB1 (A166T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780944	NM_001164.5(APBB1):c.1153C>T (p.Leu385=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714496	NM_001164.5(APBB1):c.1113C>T (p.Ala371=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3127673	NM_001164.5(APBB1):c.984G>C (p.Glu328Asp)	APBB1 (E328D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 720166	NM_001164.5(APBB1):c.979A>G (p.Met327Val)	APBB1 (M68V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3301653	NM_001164.5(APBB1):c.959A>T (p.Glu320Val)	APBB1 (E320V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326706	NM_001164.5(APBB1):c.871G>C (p.Gly291Arg)	APBB1 (G291R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301683	NM_001164.5(APBB1):c.734A>G (p.Asn245Ser)	APBB1 (N25S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546687	NM_001164.5(APBB1):c.714G>T (p.Glu238Asp)	APBB1 (E238D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739948	NM_001164.5(APBB1):c.666A>G (p.Ser222=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2508646	NM_001164.5(APBB1):c.638G>A (p.Arg213Gln)	APBB1 (R213Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301634	NM_001164.5(APBB1):c.635T>G (p.Met212Arg)	APBB1 (M212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293425	NM_001164.5(APBB1):c.611A>G (p.Lys204Arg)	APBB1 (K204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614045	NM_001164.5(APBB1):c.519A>C (p.Leu173Phe)	APBB1 (L173F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038765	NM_001164.5(APBB1):c.489T>G (p.Asp163Glu)	APBB1 (D163E)	Single nucleotide variant (missense variant +1 more)	APBB1-related disorder	GLikely benign
Select item 2358979	NM_001164.5(APBB1):c.472G>A (p.Glu158Lys)	APBB1 (E158K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270444	NM_001164.5(APBB1):c.470C>T (p.Ala157Val)	APBB1 (A157V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779131	NM_001164.5(APBB1):c.378C>T (p.Asn126=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3046282	NM_001164.5(APBB1):c.369A>C (p.Ser123=)	APBB1	Single nucleotide variant (synonymous variant +1 more)	APBB1-related disorder	GLikely benign
Select item 2277743	NM_001164.5(APBB1):c.349T>A (p.Tyr117Asn)	APBB1 (Y117N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127672	NM_001164.5(APBB1):c.332A>G (p.Lys111Arg)	APBB1 (K111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127671	NM_001164.5(APBB1):c.253C>T (p.Arg85Cys)	APBB1 (R85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275122	NM_001164.5(APBB1):c.197A>G (p.Asn66Ser)	APBB1 (N66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376173	NM_001164.5(APBB1):c.155G>A (p.Ser52Asn)	APBB1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771439	NM_001164.5(APBB1):c.151C>T (p.Arg51Cys)	APBB1 (R51C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2423019	NC_000011.9:g.(?_6411829)_(6662844_?)dup	APBB1, ARFIP2 +10 more	Duplication	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 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: 72