NM_002662.4(PLD1):c.540+661A>G |
single nucleotide variant |
Lung cancer [RCV000093275] |
Chr3:171734204 [GRCh38] Chr3:171451994 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 |
copy number gain |
See cases [RCV000051724] |
Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32 |
pathogenic |
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 |
copy number gain |
See cases [RCV000051725] |
Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 |
copy number gain |
See cases [RCV000051726] |
Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 |
copy number gain |
See cases [RCV000051735] |
Chr3:158141556..172788324 [GRCh38] Chr3:157859345..172506114 [GRCh37] Chr3:159342039..173988808 [NCBI36] Chr3:3q25.32-26.31 |
pathogenic |
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] |
Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29 |
pathogenic |
NM_002662.4(PLD1):c.1277C>T (p.Ala426Val) |
single nucleotide variant |
Malignant melanoma [RCV000065927] |
Chr3:171692393 [GRCh38] Chr3:171410183 [GRCh37] Chr3:172892877 [NCBI36] Chr3:3q26.31 |
not provided |
NM_002662.5(PLD1):c.1192C>T (p.Arg398Cys) |
single nucleotide variant |
not provided [RCV000882914] |
Chr3:171699780 [GRCh38] Chr3:171417570 [GRCh37] Chr3:172900264 [NCBI36] Chr3:3q26.31 |
benign|not provided |
NM_002662.5(PLD1):c.2531A>G (p.His844Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000190783] |
Chr3:171644922 [GRCh38] Chr3:171362712 [GRCh37] Chr3:3q26.31 |
likely pathogenic |
NM_002662.5(PLD1):c.1319G>A (p.Arg440His) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001331676] |
Chr3:171692351 [GRCh38] Chr3:171410141 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 |
copy number gain |
See cases [RCV000137106] |
Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29 |
pathogenic |
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 |
copy number gain |
See cases [RCV000139359] |
Chr3:165158611..180130168 [GRCh38] Chr3:164876399..179847956 [GRCh37] Chr3:166359093..181330650 [NCBI36] Chr3:3q26.1-26.33 |
pathogenic |
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 |
copy number gain |
See cases [RCV000139435] |
Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 |
copy number gain |
See cases [RCV000140849] |
Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 |
copy number gain |
See cases [RCV000142310] |
Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 |
copy number gain |
See cases [RCV000142107] |
Chr3:167717962..188365272 [GRCh38] Chr3:167435750..188083060 [GRCh37] Chr3:168918444..189565754 [NCBI36] Chr3:3q26.1-28 |
likely pathogenic |
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 |
copy number gain |
See cases [RCV000143694] |
Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29 |
pathogenic |
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 |
copy number gain |
See cases [RCV000240256] |
Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29 |
pathogenic |
NM_002662.5(PLD1):c.1325A>C (p.His442Pro) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV000488889] |
Chr3:171692345 [GRCh38] Chr3:171410135 [GRCh37] Chr3:3q26.31 |
pathogenic |
NM_002662.5(PLD1):c.1484_1485del (p.Thr495fs) |
microsatellite |
Cardiac valvular defect, developmental [RCV000488900]|not provided [RCV001726194] |
Chr3:171688730..171688731 [GRCh38] Chr3:171406520..171406521 [GRCh37] Chr3:3q26.31 |
pathogenic|likely pathogenic |
NM_002662.5(PLD1):c.2882+2T>C |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV000488913] |
Chr3:171612277 [GRCh38] Chr3:171330067 [GRCh37] Chr3:3q26.31 |
pathogenic |
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 |
copy number gain |
See cases [RCV000447464] |
Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29 |
pathogenic |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 |
copy number gain |
See cases [RCV000446611] |
Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 |
copy number gain |
See cases [RCV000448608] |
Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:171519792-172052769)x3 |
copy number gain |
See cases [RCV000510450] |
Chr3:171519792..172052769 [GRCh37] Chr3:3q26.31 |
likely benign |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_002662.5(PLD1):c.607-89A>T |
single nucleotide variant |
not provided [RCV001611670] |
Chr3:171726165 [GRCh38] Chr3:171443955 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.665+73C>T |
single nucleotide variant |
not provided [RCV001535217] |
Chr3:171725945 [GRCh38] Chr3:171443735 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2458G>A (p.Val820Met) |
single nucleotide variant |
not provided [RCV001666880] |
Chr3:171644995 [GRCh38] Chr3:171362785 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1228-325G>A |
single nucleotide variant |
not provided [RCV001663001] |
Chr3:171692767 [GRCh38] Chr3:171410557 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2230-214C>T |
single nucleotide variant |
not provided [RCV001611798] |
Chr3:171662384 [GRCh38] Chr3:171380174 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1220G>A (p.Arg407Gln) |
single nucleotide variant |
not provided [RCV000883127] |
Chr3:171699752 [GRCh38] Chr3:171417542 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1534C>T (p.Leu512Phe) |
single nucleotide variant |
not provided [RCV000900994] |
Chr3:171688681 [GRCh38] Chr3:171406471 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1541C>T (p.Pro514Leu) |
single nucleotide variant |
not provided [RCV000950662] |
Chr3:171687583 [GRCh38] Chr3:171405373 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.3070G>A (p.Val1024Ile) |
single nucleotide variant |
not provided [RCV000880218] |
Chr3:171603233 [GRCh38] Chr3:171321023 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.145C>G (p.Pro49Ala) |
single nucleotide variant |
not provided [RCV000880220] |
Chr3:171737907 [GRCh38] Chr3:171455697 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1754-4C>G |
single nucleotide variant |
not provided [RCV000959563] |
Chr3:171686802 [GRCh38] Chr3:171404592 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1365A>G (p.Ser455=) |
single nucleotide variant |
not provided [RCV000975020] |
Chr3:171688850 [GRCh38] Chr3:171406640 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.288+9G>A |
single nucleotide variant |
not provided [RCV000919733] |
Chr3:171737523 [GRCh38] Chr3:171455313 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.141C>T (p.Ser47=) |
single nucleotide variant |
not provided [RCV000971358] |
Chr3:171737911 [GRCh38] Chr3:171455701 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.804C>T (p.Asp268=) |
single nucleotide variant |
not provided [RCV000924917] |
Chr3:171714000 [GRCh38] Chr3:171431790 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.103T>C (p.Phe35Leu) |
single nucleotide variant |
not provided [RCV000897949] |
Chr3:171737949 [GRCh38] Chr3:171455739 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.868G>C (p.Glu290Gln) |
single nucleotide variant |
not provided [RCV000958531] |
Chr3:171713936 [GRCh38] Chr3:171431726 [GRCh37] Chr3:3q26.31 |
likely benign |
GRCh37/hg19 3q26.31(chr3:171377240-171419918)x3 |
copy number gain |
not provided [RCV000846242] |
Chr3:171377240..171419918 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.540+219C>A |
single nucleotide variant |
not provided [RCV001662890] |
Chr3:171734646 [GRCh38] Chr3:171452436 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2430-1G>A |
single nucleotide variant |
not provided [RCV001200277] |
Chr3:171645024 [GRCh38] Chr3:171362814 [GRCh37] Chr3:3q26.31 |
pathogenic |
NM_002662.5(PLD1):c.1339-154G>A |
single nucleotide variant |
not provided [RCV001635884] |
Chr3:171689030 [GRCh38] Chr3:171406820 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2544-253C>A |
single nucleotide variant |
not provided [RCV001675528] |
Chr3:171643142 [GRCh38] Chr3:171360932 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1997-202G>A |
single nucleotide variant |
not provided [RCV001597968] |
Chr3:171677035 [GRCh38] Chr3:171394825 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2341-150T>A |
single nucleotide variant |
not provided [RCV001649472] |
Chr3:171659451 [GRCh38] Chr3:171377241 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.665+201G>C |
single nucleotide variant |
not provided [RCV001651731] |
Chr3:171725817 [GRCh38] Chr3:171443607 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2430-164T>C |
single nucleotide variant |
not provided [RCV001657505] |
Chr3:171645187 [GRCh38] Chr3:171362977 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2883-99A>G |
single nucleotide variant |
not provided [RCV001611626] |
Chr3:171605515 [GRCh38] Chr3:171323305 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.3186G>A (p.Gly1062=) |
single nucleotide variant |
not provided [RCV001676496] |
Chr3:171603117 [GRCh38] Chr3:171320907 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1884T>C (p.Arg628=) |
single nucleotide variant |
not provided [RCV001687597] |
Chr3:171677678 [GRCh38] Chr3:171395468 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1062-133C>A |
single nucleotide variant |
not provided [RCV001653262] |
Chr3:171708971 [GRCh38] Chr3:171426761 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1864G>T (p.Ala622Ser) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001789525]|not provided [RCV001683792] |
Chr3:171686688 [GRCh38] Chr3:171404478 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1228-8T>C |
single nucleotide variant |
not provided [RCV000922410] |
Chr3:171692450 [GRCh38] Chr3:171410240 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1456A>C (p.Arg486=) |
single nucleotide variant |
not provided [RCV000930294] |
Chr3:171688759 [GRCh38] Chr3:171406549 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1716C>T (p.His572=) |
single nucleotide variant |
not provided [RCV000908378] |
Chr3:171687408 [GRCh38] Chr3:171405198 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1658A>G (p.Lys553Arg) |
single nucleotide variant |
not provided [RCV000907975] |
Chr3:171687466 [GRCh38] Chr3:171405256 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1997-7C>T |
single nucleotide variant |
not provided [RCV000903407] |
Chr3:171676840 [GRCh38] Chr3:171394630 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1683T>C (p.Ser561=) |
single nucleotide variant |
not provided [RCV000908612] |
Chr3:171687441 [GRCh38] Chr3:171405231 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2852T>A (p.Phe951Tyr) |
single nucleotide variant |
not provided [RCV000930677] |
Chr3:171612309 [GRCh38] Chr3:171330099 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.494G>A (p.Arg165His) |
single nucleotide variant |
not provided [RCV000953207] |
Chr3:171734911 [GRCh38] Chr3:171452701 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.2289C>T (p.His763=) |
single nucleotide variant |
not provided [RCV000880219] |
Chr3:171662111 [GRCh38] Chr3:171379901 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1404C>T (p.Val468=) |
single nucleotide variant |
not provided [RCV000916644] |
Chr3:171688811 [GRCh38] Chr3:171406601 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.2439G>A (p.Gln813=) |
single nucleotide variant |
not provided [RCV000922128] |
Chr3:171645014 [GRCh38] Chr3:171362804 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.3084A>G (p.Glu1028=) |
single nucleotide variant |
not provided [RCV000956156] |
Chr3:171603219 [GRCh38] Chr3:171321009 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.30T>C (p.Asn10=) |
single nucleotide variant |
not provided [RCV000956157] |
Chr3:171738022 [GRCh38] Chr3:171455812 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 |
copy number gain |
not provided [RCV001005487] |
Chr3:169617690..190593854 [GRCh37] Chr3:3q26.2-28 |
pathogenic |
NM_002662.5(PLD1):c.3001-222A>G |
single nucleotide variant |
not provided [RCV001594651] |
Chr3:171603524 [GRCh38] Chr3:171321314 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.540+10T>C |
single nucleotide variant |
not provided [RCV001675221] |
Chr3:171734855 [GRCh38] Chr3:171452645 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1540-50C>T |
single nucleotide variant |
not provided [RCV001642025] |
Chr3:171687634 [GRCh38] Chr3:171405424 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1228-294C>G |
single nucleotide variant |
not provided [RCV001617504] |
Chr3:171692736 [GRCh38] Chr3:171410526 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.758+195G>A |
single nucleotide variant |
not provided [RCV001655967] |
Chr3:171724501 [GRCh38] Chr3:171442291 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.540+252A>G |
single nucleotide variant |
not provided [RCV001721788] |
Chr3:171734613 [GRCh38] Chr3:171452403 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1996+331C>T |
single nucleotide variant |
not provided [RCV001674337] |
Chr3:171677235 [GRCh38] Chr3:171395025 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.666-196C>T |
single nucleotide variant |
not provided [RCV001684073] |
Chr3:171724984 [GRCh38] Chr3:171442774 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1146-228GA[13] |
microsatellite |
not provided [RCV001686800] |
Chr3:171700034..171700035 [GRCh38] Chr3:171417824..171417825 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.288+134A>G |
single nucleotide variant |
not provided [RCV001710386] |
Chr3:171737398 [GRCh38] Chr3:171455188 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2882+88A>G |
single nucleotide variant |
not provided [RCV001613882] |
Chr3:171612191 [GRCh38] Chr3:171329981 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1996+33T>C |
single nucleotide variant |
not provided [RCV001713752] |
Chr3:171677533 [GRCh38] Chr3:171395323 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.912-46A>G |
single nucleotide variant |
not provided [RCV001679841] |
Chr3:171709755 [GRCh38] Chr3:171427545 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.666-173del |
deletion |
not provided [RCV001695406] |
Chr3:171724961 [GRCh38] Chr3:171442751 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2681A>C (p.Tyr894Ser) |
single nucleotide variant |
not provided [RCV001583072] |
Chr3:171620433 [GRCh38] Chr3:171338223 [GRCh37] Chr3:3q26.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002662.5(PLD1):c.3000+215A>G |
single nucleotide variant |
not provided [RCV001609757] |
Chr3:171605084 [GRCh38] Chr3:171322874 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.*262A>G |
single nucleotide variant |
not provided [RCV001679927] |
Chr3:171602816 [GRCh38] Chr3:171320606 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.607-113T>A |
single nucleotide variant |
not provided [RCV001645056] |
Chr3:171726189 [GRCh38] Chr3:171443979 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2115+173del |
deletion |
not provided [RCV001651572] |
Chr3:171676542 [GRCh38] Chr3:171394332 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1228-257G>C |
single nucleotide variant |
not provided [RCV001612609] |
Chr3:171692699 [GRCh38] Chr3:171410489 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2883-187G>A |
single nucleotide variant |
not provided [RCV001713781] |
Chr3:171605603 [GRCh38] Chr3:171323393 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.540+256T>C |
single nucleotide variant |
not provided [RCV001649459] |
Chr3:171734609 [GRCh38] Chr3:171452399 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.666-57G>A |
single nucleotide variant |
not provided [RCV001681539] |
Chr3:171724845 [GRCh38] Chr3:171442635 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.758+99A>C |
single nucleotide variant |
not provided [RCV001709278] |
Chr3:171724597 [GRCh38] Chr3:171442387 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1238T>C (p.Val413Ala) |
single nucleotide variant |
not provided [RCV001200278] |
Chr3:171692432 [GRCh38] Chr3:171410222 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001280621] |
Chr3:171699753 [GRCh38] Chr3:171417543 [GRCh37] Chr3:3q26.31 |
likely pathogenic |
NM_002662.5(PLD1):c.2667A>C (p.Val889=) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001789424]|not provided [RCV001536625] |
Chr3:171620447 [GRCh38] Chr3:171338237 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2543+1G>T |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001336489]|not provided [RCV001871888] |
Chr3:171644909 [GRCh38] Chr3:171362699 [GRCh37] Chr3:3q26.31 |
likely pathogenic |
NM_002662.5(PLD1):c.2083C>T (p.Arg695Cys) |
single nucleotide variant |
not provided [RCV001281628] |
Chr3:171676747 [GRCh38] Chr3:171394537 [GRCh37] Chr3:3q26.31 |
likely pathogenic |
NM_002662.5(PLD1):c.498del (p.Ser167fs) |
deletion |
Cardiac valvular defect, developmental [RCV001283773] |
Chr3:171734907 [GRCh38] Chr3:171452697 [GRCh37] Chr3:3q26.31 |
likely pathogenic |
NM_002662.5(PLD1):c.1937G>C (p.Gly646Ala) |
single nucleotide variant |
not provided [RCV001369482] |
Chr3:171677625 [GRCh38] Chr3:171395415 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1597C>T (p.Gln533Ter) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001330954] |
Chr3:171687527 [GRCh38] Chr3:171405317 [GRCh37] Chr3:3q26.31 |
pathogenic |
NM_002662.5(PLD1):c.269G>A (p.Arg90His) |
single nucleotide variant |
not provided [RCV002116746] |
Chr3:171737551 [GRCh38] Chr3:171455341 [GRCh37] Chr3:3q26.31 |
benign|uncertain significance |
NM_002662.4:c.912delG |
deletion |
Cardiac valvular defect, developmental [RCV001294002] |
Chr3:171709709 [GRCh38] Chr3:171427499 [GRCh37] Chr3:3q26.31 |
pathogenic |
NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001336488] |
Chr3:171687581 [GRCh38] Chr3:171405371 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2569A>G (p.Ile857Val) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001336490] |
Chr3:171642864 [GRCh38] Chr3:171360654 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.893G>A (p.Arg298Gln) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001336491] |
Chr3:171713911 [GRCh38] Chr3:171431701 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.91C>T (p.Arg31Trp) |
single nucleotide variant |
Cardiac valvular defect, developmental [RCV001330955] |
Chr3:171737961 [GRCh38] Chr3:171455751 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2620T>G (p.Ser874Ala) |
single nucleotide variant |
not provided [RCV001992368] |
Chr3:171620494 [GRCh38] Chr3:171338284 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.289-224C>T |
single nucleotide variant |
not provided [RCV001536359] |
Chr3:171735861 [GRCh38] Chr3:171453651 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.665+211C>T |
single nucleotide variant |
not provided [RCV001690963] |
Chr3:171725807 [GRCh38] Chr3:171443597 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2430-118C>T |
single nucleotide variant |
not provided [RCV001671460] |
Chr3:171645141 [GRCh38] Chr3:171362931 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.912-82G>A |
single nucleotide variant |
not provided [RCV001694426] |
Chr3:171709791 [GRCh38] Chr3:171427581 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2882+93A>G |
single nucleotide variant |
not provided [RCV001685072] |
Chr3:171612186 [GRCh38] Chr3:171329976 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1996+76A>G |
single nucleotide variant |
not provided [RCV001610188] |
Chr3:171677490 [GRCh38] Chr3:171395280 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2340+313C>T |
single nucleotide variant |
not provided [RCV001619175] |
Chr3:171661747 [GRCh38] Chr3:171379537 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1753+1G>A |
single nucleotide variant |
not provided [RCV001378683] |
Chr3:171687370 [GRCh38] Chr3:171405160 [GRCh37] Chr3:3q26.31 |
likely pathogenic |
NM_002662.5(PLD1):c.880A>T (p.Lys294Ter) |
single nucleotide variant |
not provided [RCV001383711] |
Chr3:171713924 [GRCh38] Chr3:171431714 [GRCh37] Chr3:3q26.31 |
pathogenic |
NM_002662.5(PLD1):c.1981G>C (p.Asp661His) |
single nucleotide variant |
not provided [RCV001771028] |
Chr3:171677581 [GRCh38] Chr3:171395371 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2098C>T (p.Arg700Cys) |
single nucleotide variant |
not provided [RCV001767548] |
Chr3:171676732 [GRCh38] Chr3:171394522 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1416del (p.Gln472fs) |
deletion |
not provided [RCV001765265] |
Chr3:171688799 [GRCh38] Chr3:171406589 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1982A>T (p.Asp661Val) |
single nucleotide variant |
not provided [RCV001765314] |
Chr3:171677580 [GRCh38] Chr3:171395370 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2391A>G (p.Ile797Met) |
single nucleotide variant |
not provided [RCV001770570] |
Chr3:171659251 [GRCh38] Chr3:171377041 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.607-2A>C |
single nucleotide variant |
not provided [RCV001769290] |
Chr3:171726078 [GRCh38] Chr3:171443868 [GRCh37] Chr3:3q26.31 |
pathogenic|uncertain significance |
NM_002662.5(PLD1):c.1990T>C (p.Phe664Leu) |
single nucleotide variant |
not provided [RCV001896002] |
Chr3:171677572 [GRCh38] Chr3:171395362 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.622A>T (p.Ile208Leu) |
single nucleotide variant |
not provided [RCV002021568] |
Chr3:171726061 [GRCh38] Chr3:171443851 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2452T>C (p.Tyr818His) |
single nucleotide variant |
not provided [RCV002039833] |
Chr3:171645001 [GRCh38] Chr3:171362791 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) |
copy number gain |
not specified [RCV002053382] |
Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
NM_002662.5(PLD1):c.2248G>A (p.Asp750Asn) |
single nucleotide variant |
not provided [RCV001968504] |
Chr3:171662152 [GRCh38] Chr3:171379942 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NC_000003.11:g.(?_171320868)_(171360699_?)del |
deletion |
not provided [RCV001985741] |
Chr3:171320868..171360699 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2864T>C (p.Leu955Pro) |
single nucleotide variant |
not provided [RCV001893756] |
Chr3:171612297 [GRCh38] Chr3:171330087 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.971A>C (p.Glu324Ala) |
single nucleotide variant |
not provided [RCV001908569] |
Chr3:171709650 [GRCh38] Chr3:171427440 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 |
copy number gain |
not provided [RCV001827868] |
Chr3:168118411..179867071 [GRCh37] Chr3:3q26.2-26.33 |
likely pathogenic |
NM_002662.5(PLD1):c.3052G>A (p.Asp1018Asn) |
single nucleotide variant |
not provided [RCV001943218] |
Chr3:171603251 [GRCh38] Chr3:171321041 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.85G>C (p.Asp29His) |
single nucleotide variant |
not provided [RCV001932739] |
Chr3:171737967 [GRCh38] Chr3:171455757 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1388A>G (p.His463Arg) |
single nucleotide variant |
not provided [RCV001943492] |
Chr3:171688827 [GRCh38] Chr3:171406617 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.456C>G (p.Asn152Lys) |
single nucleotide variant |
not provided [RCV001958582] |
Chr3:171734949 [GRCh38] Chr3:171452739 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.2146T>C (p.Tyr716His) |
single nucleotide variant |
not provided [RCV001940962] |
Chr3:171674583 [GRCh38] Chr3:171392373 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1319G>C (p.Arg440Pro) |
single nucleotide variant |
not provided [RCV001990118] |
Chr3:171692351 [GRCh38] Chr3:171410141 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.1859C>T (p.Pro620Leu) |
single nucleotide variant |
not provided [RCV001878361] |
Chr3:171686693 [GRCh38] Chr3:171404483 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_002662.5(PLD1):c.2374G>C (p.Val792Leu) |
single nucleotide variant |
not provided [RCV002124649] |
Chr3:171659268 [GRCh38] Chr3:171377058 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.1540-10T>A |
single nucleotide variant |
not provided [RCV002116031] |
Chr3:171687594 [GRCh38] Chr3:171405384 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys) |
single nucleotide variant |
not provided [RCV002116849] |
Chr3:171724745 [GRCh38] Chr3:171442535 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1146-16G>C |
single nucleotide variant |
not provided [RCV002136927] |
Chr3:171699842 [GRCh38] Chr3:171417632 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2547C>T (p.Thr849=) |
single nucleotide variant |
not provided [RCV002201483] |
Chr3:171642886 [GRCh38] Chr3:171360676 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1146-16G>A |
single nucleotide variant |
not provided [RCV002122977] |
Chr3:171699842 [GRCh38] Chr3:171417632 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2594-14T>G |
single nucleotide variant |
not provided [RCV002139981] |
Chr3:171620534 [GRCh38] Chr3:171338324 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1868-20G>C |
single nucleotide variant |
not provided [RCV002184254] |
Chr3:171677714 [GRCh38] Chr3:171395504 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.547C>T (p.Leu183=) |
single nucleotide variant |
not provided [RCV002175203] |
Chr3:171733503 [GRCh38] Chr3:171451293 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.1996+14T>C |
single nucleotide variant |
not provided [RCV002097951] |
Chr3:171677552 [GRCh38] Chr3:171395342 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2729-14G>C |
single nucleotide variant |
not provided [RCV002144462] |
Chr3:171612446 [GRCh38] Chr3:171330236 [GRCh37] Chr3:3q26.31 |
benign |
NM_002662.5(PLD1):c.2576G>A (p.Gly859Glu) |
single nucleotide variant |
not provided [RCV002200267] |
Chr3:171642857 [GRCh38] Chr3:171360647 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_002662.5(PLD1):c.161-3del |
deletion |
not provided [RCV002136875] |
Chr3:171737662 [GRCh38] Chr3:171455452 [GRCh37] Chr3:3q26.31 |
benign |