APBB1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +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)	Sphingomyelin/cholesterol lipidosis +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)	Niemann-Pick disease, type B +4 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 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 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 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 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 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 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 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 +1 more	GConflicting classifications of pathogenicity
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	C11orf42, MRGPRG +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	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	OR52B2, OR56A5 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +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)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic

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Items: 65