PLEKHG4B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 152421	GRCh38/hg38 5p15.33(chr5:22149-356107)x1	AHRR, CCDC127 +24 more	Copy number loss	See cases	GLikely benign
Select item 151630	GRCh38/hg38 5p15.33(chr5:22149-658446)x1	LOC132089252, LOC132089253 +75 more	Copy number loss	See cases	GLikely benign
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150885	GRCh38/hg38 5p15.33(chr5:22149-176291)x1	LOC123493256, LOC126807280 +1 more	Copy number loss	See cases	GLikely benign
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149108	GRCh38/hg38 5p15.33(chr5:22149-946680)x1	AHRR, BRD9 +99 more	Copy number loss	See cases	GUncertain significance
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148971	GRCh38/hg38 5p15.33(chr5:22149-192721)x1	LOC121725197, LOC123493256 +7 more	Copy number loss	See cases	GLikely benign
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144883	GRCh38/hg38 5p15.33(chr5:22149-221160)x1	CCDC127, LOC121725197 +9 more	Copy number loss	See cases	GLikely benign
Select item 144880	GRCh38/hg38 5p15.33(chr5:22149-163286)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GBenign
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 60225	GRCh38/hg38 5p15.33(chr5:22149-138331)x1	LOC123493256, PLEKHG4B	Copy number loss	See cases	GUncertain significance
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152988	GRCh38/hg38 5p15.33(chr5:71789-138331)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GBenign
Select item 152981	GRCh38/hg38 5p15.33(chr5:71789-116747)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GBenign
Select item 144254	GRCh38/hg38 5p15.33(chr5:71789-113770)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GBenign
Select item 149850	GRCh38/hg38 5p15.33(chr5:71798-105346)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GLikely benign
Select item 146817	GRCh38/hg38 5p15.33(chr5:71798-116731)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GBenign/Likely benign
Select item 150294	GRCh38/hg38 5p15.33(chr5:75176-176291)x3	LOC123493256, LOC126807280 +1 more	Copy number gain	See cases	GLikely benign
Select item 154676	GRCh38/hg38 5p15.33(chr5:79031-138331)x3	LOC123493256, PLEKHG4B	Copy number gain	See cases	GBenign
Select item 151659	GRCh38/hg38 5p15.33(chr5:79031-182453)x3	LOC123493256, LOC126807280 +1 more	Copy number gain	See cases	GBenign
Select item 144687	GRCh38/hg38 5p15.33(chr5:90109-138297)x1	PLEKHG4B	Copy number loss	See cases	GBenign
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 145354	GRCh38/hg38 5p15.33(chr5:100239-182566)x3	LOC126807280, PLEKHG4B	Copy number gain	See cases	GBenign
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 57402	GRCh38/hg38 5p15.33(chr5:138272-710438)x3	AHRR, CCDC127 +88 more	Copy number gain	See cases	GUncertain significance
Select item 3215000	NM_052909.5(PLEKHG4B):c.1145C>G (p.Thr382Ser)	PLEKHG4B (T382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214968	NM_052909.5(PLEKHG4B):c.1180G>C (p.Ala394Pro)	PLEKHG4B (A394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607957	NM_052909.5(PLEKHG4B):c.1210C>A (p.Pro404Thr)	PLEKHG4B (P404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517505	NM_052909.5(PLEKHG4B):c.1213C>T (p.Arg405Trp)	PLEKHG4B (R405W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518438	NM_052909.5(PLEKHG4B):c.1216G>A (p.Gly406Arg)	PLEKHG4B (G406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407266	NM_052909.5(PLEKHG4B):c.1249G>A (p.Glu417Lys)	PLEKHG4B (E417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293177	NM_052909.5(PLEKHG4B):c.1270A>C (p.Thr424Pro)	PLEKHG4B (T424P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399340	NM_052909.5(PLEKHG4B):c.1288G>A (p.Gly430Arg)	PLEKHG4B (G430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214984	NM_052909.5(PLEKHG4B):c.1307G>A (p.Arg436Lys)	PLEKHG4B (R436K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655236	NM_052909.5(PLEKHG4B):c.1312C>A (p.Arg438=)	PLEKHG4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321144	NM_052909.5(PLEKHG4B):c.1328C>T (p.Ala443Val)	PLEKHG4B (A443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380765	NM_052909.5(PLEKHG4B):c.1358C>T (p.Ala453Val)	PLEKHG4B (A453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346246	NM_052909.5(PLEKHG4B):c.1529G>T (p.Cys510Phe)	PLEKHG4B (C510F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603282	NM_052909.5(PLEKHG4B):c.1537C>A (p.Pro513Thr)	PLEKHG4B (P513T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353766	NM_052909.5(PLEKHG4B):c.1543G>A (p.Gly515Arg)	PLEKHG4B (G515R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239115	NM_052909.5(PLEKHG4B):c.1547C>A (p.Pro516His)	PLEKHG4B (P516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214995	NM_052909.5(PLEKHG4B):c.1552G>A (p.Asp518Asn)	PLEKHG4B (D518N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618653	NM_052909.5(PLEKHG4B):c.1564C>T (p.Arg522Trp)	PLEKHG4B (R522W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352466	NM_052909.5(PLEKHG4B):c.1565G>A (p.Arg522Gln)	PLEKHG4B (R522Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267596	NM_052909.5(PLEKHG4B):c.1579G>A (p.Glu527Lys)	PLEKHG4B (E527K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214996	NM_052909.5(PLEKHG4B):c.1600G>A (p.Gly534Ser)	PLEKHG4B (G534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214997	NM_052909.5(PLEKHG4B):c.1631A>G (p.Lys544Arg)	PLEKHG4B (K544R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383856	NM_052909.5(PLEKHG4B):c.1645G>A (p.Val549Ile)	PLEKHG4B (V549I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773164	NM_052909.5(PLEKHG4B):c.1688-5C>T	PLEKHG4B	Single nucleotide variant (intron variant)	not provided	GBenign

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