30041[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 3214316	NM_153021.5(PLB1):c.11G>A (p.Arg4Gln)	PLB1 (R4Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307294	NM_153021.5(PLB1):c.92C>T (p.Thr31Ile)	PLB1 (T31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214319	NM_153021.5(PLB1):c.142T>C (p.Cys48Arg)	PLB1 (C48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284384	NM_153021.5(PLB1):c.161G>C (p.Gly54Ala)	PLB1 (G54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307282	NM_153021.5(PLB1):c.251A>C (p.Asp84Ala)	PLB1 (D84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740634	NM_153021.5(PLB1):c.275A>G (p.Lys92Arg)	PLB1 (K92R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2541257	NM_153021.5(PLB1):c.304G>A (p.Val102Met)	PLB1 (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307292	NM_153021.5(PLB1):c.331T>C (p.Ser111Pro)	PLB1 (S111P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270224	NM_153021.5(PLB1):c.335A>T (p.Asp112Val)	PLB1 (D112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718808	NM_153021.5(PLB1):c.390G>A (p.Lys130=)	PLB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728995	NM_153021.5(PLB1):c.414T>C (p.Ala138=)	PLB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2254224	NM_153021.5(PLB1):c.433G>T (p.Ala145Ser)	PLB1 (A145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767788	NM_153021.5(PLB1):c.445G>T (p.Val149Leu)	PLB1 (V149L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745798	NM_153021.5(PLB1):c.468+8T>G	PLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3214335	NM_153021.5(PLB1):c.488A>T (p.Asp163Val)	PLB1 (D163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214336	NM_153021.5(PLB1):c.515G>A (p.Ser172Asn)	PLB1 (S172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731916	NM_153021.5(PLB1):c.537G>A (p.Leu179=)	PLB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310453	NM_153021.5(PLB1):c.568G>T (p.Ala190Ser)	PLB1 (A201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605974	NM_153021.5(PLB1):c.569C>T (p.Ala190Val)	PLB1 (A201V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516853	NM_153021.5(PLB1):c.574G>A (p.Gly192Ser)	PLB1 (G203S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214337	NM_153021.5(PLB1):c.580G>A (p.Asp194Asn)	PLB1 (D194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214338	NM_153021.5(PLB1):c.608T>C (p.Leu203Pro)	PLB1 (L214P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470277	NM_153021.5(PLB1):c.685G>A (p.Gly229Ser)	PLB1 (G229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307291	NM_153021.5(PLB1):c.704C>A (p.Ala235Glu)	PLB1 (A246E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214339	NM_153021.5(PLB1):c.706C>A (p.Pro236Thr)	PLB1 (P236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348909	NM_153021.5(PLB1):c.740G>A (p.Arg247Gln)	PLB1 (R258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781804	NM_153021.5(PLB1):c.775-2A>C	PLB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2377677	NM_153021.5(PLB1):c.779C>T (p.Ala260Val)	PLB1 (A271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534006	NM_153021.5(PLB1):c.804C>A (p.Ser268Arg)	PLB1 (S268R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307284	NM_153021.5(PLB1):c.860C>A (p.Thr287Asn)	PLB1 (T287N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281990	NM_153021.5(PLB1):c.860C>G (p.Thr287Ser)	PLB1 (T287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358353	NM_153021.5(PLB1):c.878C>T (p.Ser293Leu)	PLB1 (S304L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408609	NM_153021.5(PLB1):c.884A>T (p.Asp295Val)	PLB1 (D295V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307285	NM_153021.5(PLB1):c.890G>A (p.Arg297Gln)	PLB1 (R308Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214341	NM_153021.5(PLB1):c.976A>C (p.Lys326Gln)	PLB1 (K326Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718310	NM_153021.5(PLB1):c.981C>T (p.His327=)	PLB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767789	NM_153021.5(PLB1):c.1019A>G (p.Tyr340Cys)	PLB1 (Y351C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2396693	NM_153021.5(PLB1):c.1133C>T (p.Thr378Met)	PLB1 (T378M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 2592055	NM_153021.5(PLB1):c.1177G>A (p.Val393Ile)	PLB1 (V393I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542171	NM_153021.5(PLB1):c.1180A>G (p.Ile394Val)	PLB1 (I394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307293	NM_153021.5(PLB1):c.1201C>T (p.Leu401Phe)	PLB1 (L401F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400546	NM_153021.5(PLB1):c.1249G>A (p.Val417Ile)	PLB1 (V428I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317216	NM_153021.5(PLB1):c.1256C>G (p.Thr419Ser)	PLB1 (T419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557565	NM_153021.5(PLB1):c.1279A>T (p.Ser427Cys)	PLB1 (S427C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404687	NM_153021.5(PLB1):c.1282G>C (p.Val428Leu)	PLB1 (V439L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542286	NM_153021.5(PLB1):c.1322C>A (p.Ala441Glu)	LOC129933397, PLB1 (A441E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307283	NM_153021.5(PLB1):c.1399T>C (p.Phe467Leu)	PLB1 (F478L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214317	NM_153021.5(PLB1):c.1418C>T (p.Ala473Val)	PLB1 (A473V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 772841	NM_153021.5(PLB1):c.1433+10G>A	PLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 2465463	NM_153021.5(PLB1):c.1498C>A (p.Gln500Lys)	PLB1 (Q500K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777766	NM_153021.5(PLB1):c.1536C>T (p.Gly512=)	PLB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2226370	NM_153021.5(PLB1):c.1538A>G (p.Asn513Ser)	PLB1 (N524S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214320	NM_153021.5(PLB1):c.1553T>C (p.Phe518Ser)	PLB1 (F518S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600490	NM_153021.5(PLB1):c.1576T>C (p.Ser526Pro)	PLB1 (S526P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307288	NM_153021.5(PLB1):c.1651A>G (p.Asn551Asp)	PLB1 (N540D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790640	NM_153021.5(PLB1):c.1675G>A (p.Val559Ile)	PLB1 (V559I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2530083	NM_153021.5(PLB1):c.1693T>A (p.Tyr565Asn)	PLB1 (Y554N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650778	NM_153021.5(PLB1):c.1708G>A (p.Val570Ile)	PLB1 (V559I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2487419	NM_153021.5(PLB1):c.1738C>G (p.Leu580Val)	PLB1 (L569V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457644	NM_153021.5(PLB1):c.1774A>G (p.Thr592Ala)	PLB1 (T581A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522757	NM_153021.5(PLB1):c.1792A>G (p.Ile598Val)	PLB1 (I587V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399653	NM_153021.5(PLB1):c.1822A>T (p.Thr608Ser)	PLB1 (T597S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214321	NM_153021.5(PLB1):c.1828C>G (p.Gln610Glu)	PLB1 (Q599E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324090	NM_153021.5(PLB1):c.1919C>T (p.Ser640Leu)	PLB1 (S629L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399175	NM_153021.5(PLB1):c.1951C>T (p.Pro651Ser)	PLB1 (P651S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214322	NM_153021.5(PLB1):c.1997G>A (p.Ser666Asn)	PLB1 (S655N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548272	NM_153021.5(PLB1):c.2023C>G (p.Pro675Ala)	PLB1 (P675A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214323	NM_153021.5(PLB1):c.2026G>T (p.Val676Phe)	PLB1 (V665F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788952	NM_153021.5(PLB1):c.2039C>T (p.Thr680Met)	PLB1 (T680M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711796	NM_153021.5(PLB1):c.2045G>A (p.Arg682His)	PLB1 (R682H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3214324	NM_153021.5(PLB1):c.2056G>A (p.Glu686Lys)	PLB1 (E675K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788953	NM_153021.5(PLB1):c.2094G>C (p.Gln698His)	PLB1 (Q698H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 791850	NM_153021.5(PLB1):c.2097G>A (p.Pro699=)	PLB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2303708	NM_153021.5(PLB1):c.2098T>C (p.Phe700Leu)	PLB1 (F689L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708454	NM_153021.5(PLB1):c.2189-10G>A	PLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756624	NM_153021.5(PLB1):c.2248-5C>T	PLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620167	NM_153021.5(PLB1):c.2278G>A (p.Asp760Asn)	PLB1 (D749N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250413	NM_153021.5(PLB1):c.2280C>A (p.Asp760Glu)	PLB1 (D749E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408070	NM_153021.5(PLB1):c.2299C>G (p.Gln767Glu)	PLB1 (Q756E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457259	NM_153021.5(PLB1):c.2305C>T (p.Arg769Trp)	PLB1 (R769W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 757496	NM_153021.5(PLB1):c.2322-8C>T	PLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2231915	NM_153021.5(PLB1):c.2332G>C (p.Asp778His)	PLB1 (D778H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728108	NM_153021.5(PLB1):c.2334C>T (p.Asp778=)	PLB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2312222	NM_153021.5(PLB1):c.2407G>T (p.Val803Leu)	PLB1 (V792L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400534	NM_153021.5(PLB1):c.2414C>T (p.Thr805Met)	PLB1 (T805M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486144	NM_153021.5(PLB1):c.2423C>G (p.Ala808Gly)	PLB1 (A797G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298135	NM_153021.5(PLB1):c.2426A>G (p.Asn809Ser)	PLB1 (N798S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 717822	NM_153021.5(PLB1):c.2432C>T (p.Thr811Met)	PLB1 (T811M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 780815	NM_153021.5(PLB1):c.2435A>T (p.Asn812Ile)	PLB1 (N801I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3214325	NM_153021.5(PLB1):c.2441T>C (p.Phe814Ser)	PLB1 (F803S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401829	NM_153021.5(PLB1):c.2458C>G (p.Pro820Ala)	PLB1 (P809A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788954	NM_153021.5(PLB1):c.2461G>A (p.Gly821Arg)	PLB1 (G810R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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