GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 |
copy number loss |
See cases [RCV000051642] |
Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 |
copy number loss |
See cases [RCV000051614] |
Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 |
copy number gain |
See cases [RCV000051755] |
Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] |
Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 |
copy number loss |
See cases [RCV000051679] |
Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 |
copy number gain |
See cases [RCV000051743] |
Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] |
Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 |
copy number gain |
See cases [RCV000051753] |
Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 |
copy number gain |
See cases [RCV000051757] |
Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] |
Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] |
Chr4:2231690..11197847 [GRCh38] Chr4:2233417..11199471 [GRCh37] Chr4:2203215..10808569 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 |
copy number loss |
See cases [RCV000053262] |
Chr4:5455628..10640216 [GRCh38] Chr4:5457355..10641840 [GRCh37] Chr4:5508256..10250938 [NCBI36] Chr4:4p16.2-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 |
copy number loss |
See cases [RCV000135657] |
Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 |
copy number loss |
See cases [RCV000135436] |
Chr4:135972..9369341 [GRCh38] Chr4:129753..9371067 [GRCh37] Chr4:119753..8980165 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 |
copy number loss |
See cases [RCV000135532] |
Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 |
copy number loss |
See cases [RCV000135992] |
Chr4:37335..9369258 [GRCh38] Chr4:37336..9370984 [GRCh37] Chr4:27336..8980082 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 |
copy number gain |
See cases [RCV000133677] |
Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 |
copy number loss |
See cases [RCV000135336] |
Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 |
copy number gain |
See cases [RCV000135349] |
Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:8222739-8327796)x1 |
copy number loss |
See cases [RCV000135254] |
Chr4:8222739..8327796 [GRCh38] Chr4:8224466..8329523 [GRCh37] Chr4:8275366..8380423 [NCBI36] Chr4:4p16.1 |
likely benign |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 |
copy number loss |
See cases [RCV000137036] |
Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 |
copy number gain |
See cases [RCV000137261] |
Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 |
copy number loss |
See cases [RCV000138227] |
Chr4:36424..9369341 [GRCh38] Chr4:36424..9371067 [GRCh37] Chr4:26424..8980165 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 |
copy number loss |
See cases [RCV000143713] |
Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 |
copy number loss |
See cases [RCV000143686] |
Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 |
copy number gain |
See cases [RCV000137071] |
Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 |
copy number loss |
See cases [RCV000138198] |
Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 |
copy number gain |
See cases [RCV000138305] |
Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 |
copy number loss |
See cases [RCV000139551] |
Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 |
copy number loss |
See cases [RCV000141502] |
Chr4:4426403..17460549 [GRCh38] Chr4:4428130..17462172 [GRCh37] Chr4:4479031..17071270 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 |
copy number loss |
See cases [RCV000143377] |
Chr4:68453..8730129 [GRCh38] Chr4:68345..8731855 [GRCh37] Chr4:58345..8782755 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 |
copy number loss |
See cases [RCV000203431] |
Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 |
copy number gain |
See cases [RCV000240007] |
Chr4:6447048..20490737 [GRCh37] Chr4:4p16.1-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 |
copy number gain |
See cases [RCV000240562] |
Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 |
copy number gain |
See cases [RCV000240481] |
Chr4:127233..8667610 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 |
copy number loss |
See cases [RCV000446287] |
Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 |
copy number gain |
See cases [RCV000446451] |
Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 |
copy number gain |
See cases [RCV000447633] |
Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 |
copy number loss |
See cases [RCV000448933] |
Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:8199982-8731855)x3 |
copy number gain |
See cases [RCV000512078] |
Chr4:8199982..8731855 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 |
copy number loss |
See cases [RCV000512104] |
Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 |
copy number loss |
See cases [RCV000510662] |
Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 |
copy number gain |
See cases [RCV000510565] |
Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
likely pathogenic |
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 |
copy number gain |
See cases [RCV000511193] |
Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not provided [RCV000682363] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 |
copy number loss |
not provided [RCV000682373] |
Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 |
copy number gain |
not provided [RCV000743154] |
Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 |
copy number loss |
not provided [RCV001005512] |
Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 |
copy number gain |
not provided [RCV001005510] |
Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 |
copy number loss |
See cases [RCV001007422] |
Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 |
copy number loss |
not provided [RCV001005519] |
Chr4:5914109..17264668 [GRCh37] Chr4:4p16.2-15.32 |
likely pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 |
copy number loss |
not provided [RCV001005511] |
Chr4:68345..9768141 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 |
copy number loss |
not provided [RCV001005514] |
Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 |
copy number gain |
See cases [RCV001194594] |
Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 |
copy number loss |
not provided [RCV001537927] |
Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:8265830-8731855)x3 |
copy number gain |
not provided [RCV001833064] |
Chr4:8265830..8731855 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:7792998-8731855)x3 |
copy number gain |
not provided [RCV001832971] |
Chr4:7792998..8731855 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 |
copy number loss |
not provided [RCV001829146] |
Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 |
copy number gain |
FETAL DEMISE [RCV002282978] |
Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3 |
copy number gain |
not provided [RCV002474653] |
Chr4:8234755..8731855 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.508G>A (p.Val170Met) |
single nucleotide variant |
not specified [RCV004242440] |
Chr4:8286583 [GRCh38] Chr4:8288310 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.343G>A (p.Gly115Arg) |
single nucleotide variant |
not specified [RCV004222091] |
Chr4:8270311 [GRCh38] Chr4:8272038 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.983T>C (p.Ile328Thr) |
single nucleotide variant |
not specified [RCV004121431] |
Chr4:8294133 [GRCh38] Chr4:8295860 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.79G>T (p.Ala27Ser) |
single nucleotide variant |
not specified [RCV004144629] |
Chr4:8270047 [GRCh38] Chr4:8271774 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.640T>G (p.Ser214Ala) |
single nucleotide variant |
not specified [RCV004242943] |
Chr4:8286715 [GRCh38] Chr4:8288442 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.778G>A (p.Gly260Ser) |
single nucleotide variant |
not specified [RCV004173587] |
Chr4:8291439 [GRCh38] Chr4:8293166 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.125G>T (p.Gly42Val) |
single nucleotide variant |
not specified [RCV004157560] |
Chr4:8270093 [GRCh38] Chr4:8271820 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.836G>A (p.Arg279Gln) |
single nucleotide variant |
not specified [RCV004231407] |
Chr4:8291497 [GRCh38] Chr4:8293224 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.1286A>C (p.Glu429Ala) |
single nucleotide variant |
not specified [RCV004599433] |
Chr4:8306060 [GRCh38] Chr4:8307787 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.856C>A (p.Leu286Ile) |
single nucleotide variant |
not specified [RCV004169810] |
Chr4:8291517 [GRCh38] Chr4:8293244 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.878A>G (p.Tyr293Cys) |
single nucleotide variant |
not specified [RCV004167481] |
Chr4:8291539 [GRCh38] Chr4:8293266 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.410G>A (p.Arg137His) |
single nucleotide variant |
not specified [RCV004266596] |
Chr4:8282461 [GRCh38] Chr4:8284188 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.1309C>T (p.Arg437Trp) |
single nucleotide variant |
not specified [RCV004278730] |
Chr4:8306083 [GRCh38] Chr4:8307810 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.812C>T (p.Thr271Met) |
single nucleotide variant |
not specified [RCV004309387] |
Chr4:8291473 [GRCh38] Chr4:8293200 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.262G>A (p.Ala88Thr) |
single nucleotide variant |
not specified [RCV004259982] |
Chr4:8270230 [GRCh38] Chr4:8271957 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.1016G>A (p.Arg339Gln) |
single nucleotide variant |
not specified [RCV004319486] |
Chr4:8294166 [GRCh38] Chr4:8295893 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.974C>T (p.Thr325Met) |
single nucleotide variant |
not specified [RCV004342208] |
Chr4:8294124 [GRCh38] Chr4:8295851 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.805G>A (p.Val269Met) |
single nucleotide variant |
not provided [RCV003439251] |
Chr4:8291466..8291467 [GRCh38] Chr4:8291466 [GRCh38] Chr4:8293193..8293194 [GRCh37] Chr4:8293193 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 |
copy number loss |
not specified [RCV003986510] |
Chr4:68345..14083766 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 |
copy number loss |
not specified [RCV003986512] |
Chr4:68345..19103550 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 |
copy number loss |
not specified [RCV003986488] |
Chr4:68345..21143236 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_053044.5(HTRA3):c.597C>T (p.Ala199=) |
single nucleotide variant |
not provided [RCV003885995] |
Chr4:8286672 [GRCh38] Chr4:8288399 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_053044.5(HTRA3):c.1130C>T (p.Pro377Leu) |
single nucleotide variant |
not specified [RCV004635347] |
Chr4:8304213 [GRCh38] Chr4:8305940 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.28G>C (p.Ala10Pro) |
single nucleotide variant |
not specified [RCV004635348] |
Chr4:8269996 [GRCh38] Chr4:8271723 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.361C>A (p.Leu121Met) |
single nucleotide variant |
not specified [RCV004635349] |
Chr4:8270329 [GRCh38] Chr4:8272056 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.551G>A (p.Gly184Asp) |
single nucleotide variant |
not specified [RCV004635343] |
Chr4:8286626 [GRCh38] Chr4:8288353 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.1214G>C (p.Gly405Ala) |
single nucleotide variant |
not specified [RCV004635346] |
Chr4:8305988 [GRCh38] Chr4:8307715 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.523G>A (p.Gly175Ser) |
single nucleotide variant |
not specified [RCV004635345] |
Chr4:8286598 [GRCh38] Chr4:8288325 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3 |
copy number gain |
not provided [RCV004819301] |
Chr4:68346..16744084 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_053044.5(HTRA3):c.752G>A (p.Arg251Gln) |
single nucleotide variant |
not specified [RCV004931399] |
Chr4:8291413 [GRCh38] Chr4:8293140 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) |
copy number loss |
4p partial monosomy syndrome [RCV000767672] |
Chr4:75742..8672411 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 |
copy number loss |
See cases [RCV000240003] |
Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 |
copy number loss |
See cases [RCV000239427] |
Chr4:49450..8872474 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not specified [RCV003986479] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 |
copy number loss |
See cases [RCV000449197] |
Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 |
copy number loss |
See cases [RCV000511351] |
Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_053044.5(HTRA3):c.599C>A (p.Pro200Gln) |
single nucleotide variant |
not specified [RCV004329190] |
Chr4:8286674 [GRCh38] Chr4:8288401 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 |
copy number gain |
not provided [RCV000743201] |
Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:8271251-8271851)x1 |
copy number loss |
not provided [RCV000743298] |
Chr4:8271251..8271851 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:8271351-8271605)x1 |
copy number loss |
not provided [RCV000743299] |
Chr4:8271351..8271605 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:8271849-8310257)x3 |
copy number gain |
not provided [RCV000743300] |
Chr4:8271849..8310257 [GRCh37] Chr4:4p16.1 |
benign |
NM_053044.5(HTRA3):c.104C>G (p.Pro35Arg) |
single nucleotide variant |
not specified [RCV004315026] |
Chr4:8270072 [GRCh38] Chr4:8271799 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:7336953-8620214)x3 |
copy number gain |
not provided [RCV000846952] |
Chr4:7336953..8620214 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 |
copy number loss |
not provided [RCV000845896] |
Chr4:3374195..13468480 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:8162995-8481259)x1 |
copy number loss |
not provided [RCV000847150] |
Chr4:8162995..8481259 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 |
copy number loss |
not provided [RCV002473869] |
Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 |
copy number gain |
not provided [RCV001537928] |
Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 |
copy number loss |
See cases [RCV002286359] |
Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
See cases [RCV002292704] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 |
copy number loss |
not provided [RCV002473938] |
Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_053044.5(HTRA3):c.187G>A (p.Gly63Ser) |
single nucleotide variant |
not specified [RCV004330488] |
Chr4:8270155 [GRCh38] Chr4:8271882 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.733G>C (p.Gly245Arg) |
single nucleotide variant |
not specified [RCV004260220] |
Chr4:8291394 [GRCh38] Chr4:8293121 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.211G>T (p.Gly71Cys) |
single nucleotide variant |
not specified [RCV004281100] |
Chr4:8270179 [GRCh38] Chr4:8271906 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.691A>G (p.Ile231Val) |
single nucleotide variant |
not specified [RCV004259346] |
Chr4:8286766 [GRCh38] Chr4:8288493 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) |
copy number gain |
4p16.3 microduplication syndrome [RCV003319592] |
Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327611] |
Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11 |
pathogenic |
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327613] |
Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12 |
pathogenic |
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327612] |
Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 |
copy number loss |
not provided [RCV003334269] |
Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_053044.5(HTRA3):c.182C>T (p.Pro61Leu) |
single nucleotide variant |
not specified [RCV004346592] |
Chr4:8270150 [GRCh38] Chr4:8271877 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.1063C>T (p.Arg355Cys) |
single nucleotide variant |
not specified [RCV004361607] |
Chr4:8302474 [GRCh38] Chr4:8304201 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3 |
copy number gain |
not provided [RCV003484170] |
Chr4:7810354..8620214 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 |
copy number loss |
not provided [RCV003885506] |
Chr4:85622..13316942 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_053044.5(HTRA3):c.326G>A (p.Arg109His) |
single nucleotide variant |
not specified [RCV004397445] |
Chr4:8270294 [GRCh38] Chr4:8272021 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_2357152)_(15176083_?)del |
deletion |
not provided [RCV004580846] |
Chr4:2357152..15176083 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_053044.5(HTRA3):c.1084C>T (p.Arg362Trp) |
single nucleotide variant |
not specified [RCV004635344] |
Chr4:8302495 [GRCh38] Chr4:8304222 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1-15.33(chr4:7518112-12949656)x3 |
copy number gain |
not provided [RCV004819473] |
Chr4:7518112..12949656 [GRCh37] Chr4:4p16.1-15.33 |
uncertain significance |
NM_053044.5(HTRA3):c.585C>G (p.Ser195Arg) |
single nucleotide variant |
not specified [RCV004931400] |
Chr4:8286660 [GRCh38] Chr4:8288387 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.491C>T (p.Pro164Leu) |
single nucleotide variant |
not specified [RCV004931401] |
Chr4:8286566 [GRCh38] Chr4:8288293 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.664A>G (p.Ile222Val) |
single nucleotide variant |
not specified [RCV004931402] |
Chr4:8286739 [GRCh38] Chr4:8288466 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_053044.5(HTRA3):c.121G>A (p.Gly41Ser) |
single nucleotide variant |
not specified [RCV004931398] |
Chr4:8270089 [GRCh38] Chr4:8271816 [GRCh37] Chr4:4p16.1 |
uncertain significance |