ClinVar Miner

List of variants in gene PLEKHG5 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.6496769G>C
NC_000001.11:g.6497400A>G
NC_000001.11:g.6519461G>C
NM_020631.4(PLEKHG5):c.1392+10_1392+24delCGCGTGCCGTGGGCG rs1064795162
NM_020631.5(PLEKHG5):c.-73C>T rs189176513
NM_020631.5(PLEKHG5):c.1023G>A (p.Val341=) rs199903533
NM_020631.5(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.5(PLEKHG5):c.1080+131G>A
NM_020631.5(PLEKHG5):c.1081-12C>T rs182398849
NM_020631.5(PLEKHG5):c.1081-19C>T rs1057524719
NM_020631.5(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.5(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.1260C>T (p.Asp420=) rs1553174252
NM_020631.5(PLEKHG5):c.12T>C (p.Asp4=)
NM_020631.5(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601
NM_020631.5(PLEKHG5):c.1383C>T (p.Ala461=) rs200957791
NM_020631.5(PLEKHG5):c.1392+40G>C
NM_020631.5(PLEKHG5):c.150-11C>A rs369136414
NM_020631.5(PLEKHG5):c.150-13C>T rs373087396
NM_020631.5(PLEKHG5):c.1517G>A (p.Arg506His) rs898550173
NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.5(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861
NM_020631.5(PLEKHG5):c.186G>A (p.Lys62=) rs372405586
NM_020631.5(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221
NM_020631.5(PLEKHG5):c.1914C>T (p.Cys638=) rs373154779
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1933+18C>T rs369940156
NM_020631.5(PLEKHG5):c.2049+9A>G rs368743607
NM_020631.5(PLEKHG5):c.2050-17C>A rs1553173486
NM_020631.5(PLEKHG5):c.210+16G>T rs751082247
NM_020631.5(PLEKHG5):c.210+20C>T rs777308688
NM_020631.5(PLEKHG5):c.211-20C>T rs990630026
NM_020631.5(PLEKHG5):c.2127_2162dup (p.Asp709_Glu720dup) rs1553173380
NM_020631.5(PLEKHG5):c.2142_2153dup (p.Glu720_Glu723dup) rs1553173393
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668
NM_020631.5(PLEKHG5):c.2249+7C>G rs1057523000
NM_020631.5(PLEKHG5):c.2250-13C>T rs547780813
NM_020631.5(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338
NM_020631.5(PLEKHG5):c.2424G>A (p.Val808=) rs151184761
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430
NM_020631.5(PLEKHG5):c.3011+9C>T rs144809602
NM_020631.5(PLEKHG5):c.3012-79C>T
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
NM_020631.5(PLEKHG5):c.43+20G>T rs200779049
NM_020631.5(PLEKHG5):c.439+12C>G rs778853521
NM_020631.5(PLEKHG5):c.440-17G>A rs200894921
NM_020631.5(PLEKHG5):c.474G>A (p.Glu158=) rs751440606
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.5(PLEKHG5):c.592-75C>A
NM_020631.5(PLEKHG5):c.621G>A (p.Ser207=) rs973366523
NM_020631.5(PLEKHG5):c.639G>A (p.Ala213=) rs560366406
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) rs112530241
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) rs61738905
NM_020631.5(PLEKHG5):c.84G>A (p.Pro28=)
NM_020631.5(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.984+13C>G rs202154066
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.5(PLEKHG5):c.99C>T (p.Pro33=) rs775878865

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.