PLXNB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 155420	GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	LOC130067809, LOC130067810 +288 more	Copy number loss	See cases	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 146310	GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	LOC130067846, LOC130067847 +240 more	Copy number loss	See cases	GPathogenic
Select item 57674	GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	LOC126863173, LOC126863174 +235 more	Copy number loss	See cases	GPathogenic
Select item 57675	GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	ACR, ADM2 +230 more	Copy number loss	See cases	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	ACR, ADM2 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57193	GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	ACR, ADM2 +221 more	Copy number loss	See cases	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 154522	GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	ACR, ADM2 +210 more	Copy number loss	See cases	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	See cases	GPathogenic
Select item 147807	GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 57703	GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 144225	GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	ACR, ADM2 +186 more	Copy number loss	See cases	GPathogenic
Select item 144377	GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 155641	GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	LOC121853048, LOC125446259 +184 more	Copy number loss	See cases	GPathogenic
Select item 150859	GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 146870	GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	ADM2, ARSA +123 more	Copy number gain	See cases	GUncertain significance
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147719	GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3	ACR, ADM2 +84 more	Copy number gain	See cases	GBenign
Select item 2480852	NM_012401.4(PLXNB2):c.5498A>C (p.Asn1833Thr)	PLXNB2 (N1807T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653374	NM_012401.4(PLXNB2):c.5410G>A (p.Glu1804Lys)	PLXNB2 (E1773K +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3215664	NM_012401.4(PLXNB2):c.5341C>T (p.His1781Tyr)	PLXNB2 (H1773Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516806	NM_012401.4(PLXNB2):c.5339C>T (p.Ala1780Val)	PLXNB2 (A1754V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1895427	NM_012401.4(PLXNB2):c.5197-337_5310del	PLXNB2	Deletion (splice acceptor variant +1 more)	See cases	GPathogenic
Select item 2396934	NM_012401.4(PLXNB2):c.5270A>G (p.Lys1757Arg)	PLXNB2 (K1749R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215663	NM_012401.4(PLXNB2):c.5177C>T (p.Thr1726Met)	PLXNB2 (T1726M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384440	NM_012401.4(PLXNB2):c.5054C>T (p.Pro1685Leu)	PLXNB2 (P1654L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307427	NM_012401.4(PLXNB2):c.4957G>T (p.Ala1653Ser)	PLXNB2 (A1627S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568522	NM_012401.4(PLXNB2):c.4955C>T (p.Pro1652Leu)	PLXNB2 (P1644L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344430	NM_012401.4(PLXNB2):c.4945G>A (p.Ala1649Thr)	PLXNB2 (A1672T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215661	NM_012401.4(PLXNB2):c.4847C>T (p.Ala1616Val)	PLXNB2 (A1590V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1895428	NM_012401.4(PLXNB2):c.4609G>A (p.Gly1537Ser)	PLXNB2 (G1506S +5 more)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 2302398	NM_012401.4(PLXNB2):c.4603C>T (p.Arg1535Trp)	PLXNB2 (R1614W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317526	NM_012401.4(PLXNB2):c.4580C>T (p.Ser1527Leu)	PLXNB2 (S1496L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676933	NM_012401.4(PLXNB2):c.4547-4A>C	PLXNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3215660	NM_012401.4(PLXNB2):c.4537G>A (p.Val1513Met)	PLXNB2 (V1536M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262689	NM_012401.4(PLXNB2):c.4433C>T (p.Pro1478Leu)	PLXNB2 (P1478L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254088	NM_012401.4(PLXNB2):c.4402A>G (p.Ile1468Val)	PLXNB2 (I1437V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215659	NM_012401.4(PLXNB2):c.4381G>T (p.Ala1461Ser)	PLXNB2 (A1430S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534080	NM_012401.4(PLXNB2):c.4381G>A (p.Ala1461Thr)	PLXNB2 (A1430T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322360	NM_012401.4(PLXNB2):c.4379A>G (p.Tyr1460Cys)	PLXNB2 (Y1452C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544731	NM_012401.4(PLXNB2):c.4328A>C (p.Lys1443Thr)	PLXNB2 (K1522T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544729	NM_012401.4(PLXNB2):c.4327A>G (p.Lys1443Glu)	PLXNB2 (K1466E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215657	NM_012401.4(PLXNB2):c.4141G>A (p.Val1381Met)	PLXNB2 (V1350M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215656	NM_012401.4(PLXNB2):c.4112C>T (p.Thr1371Met)	PLXNB2 (T1340M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252921	NM_012401.4(PLXNB2):c.4052C>T (p.Ala1351Val)	PLXNB2 (A1374V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334320	NM_012401.4(PLXNB2):c.3993+8A>G	PLXNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3215655	NM_012401.4(PLXNB2):c.3992A>G (p.Asn1331Ser)	PLXNB2 (N1331S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653375	NM_012401.4(PLXNB2):c.3987C>T (p.Leu1329=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895426	NM_012401.4(PLXNB2):c.3982_3986del (p.Phe1328fs)	PLXNB2 (F1297fs +4 more)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 3307957	NM_012401.4(PLXNB2):c.3975C>G (p.Ser1325Arg)	PLXNB2 (S1294R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215654	NM_012401.4(PLXNB2):c.3928C>A (p.Pro1310Thr)	PLXNB2 (P1279T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215653	NM_012401.4(PLXNB2):c.3923G>A (p.Arg1308Gln)	PLXNB2 (R1331Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351976	NM_012401.4(PLXNB2):c.3920C>T (p.Pro1307Leu)	PLXNB2 (P1276L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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