GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 |
copy number loss |
See cases [RCV000051511] |
Chr3:49461000..55314500 [GRCh38] Chr3:49498433..55348528 [GRCh37] Chr3:49473437..55323568 [NCBI36] Chr3:3p21.31-14.3 |
pathogenic |
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 |
copy number loss |
See cases [RCV000143631] |
Chr3:51394434..55064449 [GRCh38] Chr3:51431865..55098476 [GRCh37] Chr3:51406905..55073516 [NCBI36] Chr3:3p21.2-14.3 |
likely pathogenic |
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 |
copy number loss |
See cases [RCV000239886] |
Chr3:52086599..59689209 [GRCh37] Chr3:3p21.2-14.2 |
pathogenic |
NM_020163.3(SEMA3G):c.1309C>T (p.His437Tyr) |
single nucleotide variant |
not specified [RCV004317838] |
Chr3:52439933 [GRCh38] Chr3:52473949 [GRCh37] Chr3:3p21.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_020163.3(SEMA3G):c.385A>C (p.Thr129Pro) |
single nucleotide variant |
not specified [RCV004321024] |
Chr3:52442259 [GRCh38] Chr3:52476275 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2054C>T (p.Pro685Leu) |
single nucleotide variant |
not specified [RCV004311488] |
Chr3:52435898 [GRCh38] Chr3:52469914 [GRCh37] Chr3:3p21.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_020163.3(SEMA3G):c.11C>T (p.Ser4Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747284]|not specified [RCV004317284] |
Chr3:52445017 [GRCh38] Chr3:52479033 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1606C>T (p.Arg536Trp) |
single nucleotide variant |
not specified [RCV004309062] |
Chr3:52438103 [GRCh38] Chr3:52472119 [GRCh37] Chr3:3p21.1 |
uncertain significance |
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_020163.3(SEMA3G):c.661T>C (p.Leu221=) |
single nucleotide variant |
not provided [RCV000946737] |
Chr3:52441580 [GRCh38] Chr3:52475596 [GRCh37] Chr3:3p21.1 |
benign |
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) |
copy number gain |
not provided [RCV000767704] |
Chr3:45153770..53878616 [GRCh37] Chr3:3p21.31-21.1 |
pathogenic |
GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1 |
copy number loss |
not provided [RCV000848455] |
Chr3:52195134..52869037 [GRCh37] Chr3:3p21.2-21.1 |
pathogenic |
NM_020163.3(SEMA3G):c.1715A>G (p.Gln572Arg) |
single nucleotide variant |
not specified [RCV004309386] |
Chr3:52437994 [GRCh38] Chr3:52472010 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1672C>T (p.Arg558Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003410316]|not specified [RCV004282283] |
Chr3:52438037 [GRCh38] Chr3:52472053 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1056T>C (p.Val352=) |
single nucleotide variant |
not provided [RCV000956770] |
Chr3:52440464 [GRCh38] Chr3:52474480 [GRCh37] Chr3:3p21.1 |
benign |
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 |
copy number gain |
not provided [RCV001005434] |
Chr3:51247306..53069942 [GRCh37] Chr3:3p21.2-21.1 |
uncertain significance |
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4 |
copy number gain |
not provided [RCV001259685] |
Chr3:51975459..52561678 [GRCh37] Chr3:3p21.2-21.1 |
uncertain significance |
NC_000003.11:g.(?_52109903)_(53164416_?)del |
deletion |
RFT1-congenital disorder of glycosylation [RCV003122979] |
Chr3:52109903..53164416 [GRCh37] Chr3:3p21.2-21.1 |
uncertain significance |
NC_000003.11:g.(?_52018081)_(53845433_?)del |
deletion |
not provided [RCV003105312] |
Chr3:52018081..53845433 [GRCh37] Chr3:3p21.2-21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2262C>G (p.Ser754Arg) |
single nucleotide variant |
not specified [RCV004300651] |
Chr3:52435690 [GRCh38] Chr3:52469706 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2224C>T (p.Arg742Trp) |
single nucleotide variant |
not specified [RCV004328450] |
Chr3:52435728 [GRCh38] Chr3:52469744 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2129T>A (p.Ile710Asn) |
single nucleotide variant |
not specified [RCV004083143] |
Chr3:52435823 [GRCh38] Chr3:52469839 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1318G>A (p.Val440Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV003936655]|not specified [RCV004141961] |
Chr3:52439924 [GRCh38] Chr3:52473940 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2162G>A (p.Arg721Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003900900]|not specified [RCV004144570] |
Chr3:52435790 [GRCh38] Chr3:52469806 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1553G>A (p.Arg518Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003900890]|not specified [RCV004109546] |
Chr3:52438156 [GRCh38] Chr3:52472172 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.548T>C (p.Ile183Thr) |
single nucleotide variant |
not specified [RCV004171705] |
Chr3:52441821 [GRCh38] Chr3:52475837 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.56G>C (p.Gly19Ala) |
single nucleotide variant |
not specified [RCV004228676] |
Chr3:52444972 [GRCh38] Chr3:52478988 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.452G>A (p.Arg151His) |
single nucleotide variant |
SEMA3G-related disorder [RCV003420522]|not specified [RCV004233204] |
Chr3:52442192 [GRCh38] Chr3:52476208 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.43C>T (p.Leu15Phe) |
single nucleotide variant |
SEMA3G-related disorder [RCV003954037]|not specified [RCV004234742] |
Chr3:52444985 [GRCh38] Chr3:52479001 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.1328G>A (p.Arg443His) |
single nucleotide variant |
SEMA3G-related disorder [RCV003395675]|not specified [RCV004203265] |
Chr3:52439914 [GRCh38] Chr3:52473930 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1652G>T (p.Arg551Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV003427607]|not specified [RCV004122312] |
Chr3:52438057 [GRCh38] Chr3:52472073 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1563A>C (p.Gln521His) |
single nucleotide variant |
not specified [RCV004185357] |
Chr3:52438146 [GRCh38] Chr3:52472162 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.499C>T (p.Arg167Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003395672]|not specified [RCV004197350] |
Chr3:52441870 [GRCh38] Chr3:52475886 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1330G>A (p.Val444Met) |
single nucleotide variant |
not specified [RCV004149846] |
Chr3:52439912 [GRCh38] Chr3:52473928 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2321G>A (p.Arg774Gln) |
single nucleotide variant |
not specified [RCV004135886] |
Chr3:52435631 [GRCh38] Chr3:52469647 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1687G>C (p.Asp563His) |
single nucleotide variant |
not specified [RCV004204823] |
Chr3:52438022 [GRCh38] Chr3:52472038 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1777G>A (p.Gly593Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV003953991]|not specified [RCV004126747] |
Chr3:52437628 [GRCh38] Chr3:52471644 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.413C>T (p.Ala138Val) |
single nucleotide variant |
not specified [RCV004122460] |
Chr3:52442231 [GRCh38] Chr3:52476247 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1838G>A (p.Arg613His) |
single nucleotide variant |
SEMA3G-related disorder [RCV003420466]|not specified [RCV004170586] |
Chr3:52437567 [GRCh38] Chr3:52471583 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.469C>T (p.His157Tyr) |
single nucleotide variant |
not provided [RCV004695426]|not specified [RCV004113519] |
Chr3:52441900 [GRCh38] Chr3:52475916 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.758C>T (p.Ser253Leu) |
single nucleotide variant |
not specified [RCV004143015] |
Chr3:52441319 [GRCh38] Chr3:52475335 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1508G>C (p.Arg503Thr) |
single nucleotide variant |
not specified [RCV004104999] |
Chr3:52438921 [GRCh38] Chr3:52472937 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.460C>G (p.His154Asp) |
single nucleotide variant |
not specified [RCV004181930] |
Chr3:52441909 [GRCh38] Chr3:52475925 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.525C>A (p.Ser175Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV003396879]|not specified [RCV004226192] |
Chr3:52441844 [GRCh38] Chr3:52475860 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2179G>C (p.Glu727Gln) |
single nucleotide variant |
not specified [RCV004096814] |
Chr3:52435773 [GRCh38] Chr3:52469789 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1913G>C (p.Arg638Pro) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747236]|not specified [RCV004077562] |
Chr3:52436039 [GRCh38] Chr3:52470055 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1064G>A (p.Gly355Glu) |
single nucleotide variant |
not specified [RCV004268761] |
Chr3:52440456 [GRCh38] Chr3:52474472 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.252C>G (p.Asp84Glu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747275]|not specified [RCV004278472] |
Chr3:52442771 [GRCh38] Chr3:52476787 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1565G>T (p.Cys522Phe) |
single nucleotide variant |
not specified [RCV004265885] |
Chr3:52438144 [GRCh38] Chr3:52472160 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.963G>C (p.Lys321Asn) |
single nucleotide variant |
not specified [RCV004272586] |
Chr3:52440789 [GRCh38] Chr3:52474805 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1945G>A (p.Asp649Asn) |
single nucleotide variant |
SEMA3G-related disorder [RCV003420646]|not specified [RCV004324059] |
Chr3:52436007 [GRCh38] Chr3:52470023 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.506G>T (p.Arg169Leu) |
single nucleotide variant |
not specified [RCV004308660] |
Chr3:52441863 [GRCh38] Chr3:52475879 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.688G>A (p.Ala230Thr) |
single nucleotide variant |
SEMA3G-related disorder [RCV003954064]|not specified [RCV004254562] |
Chr3:52441389 [GRCh38] Chr3:52475405 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.1039G>A (p.Ala347Thr) |
single nucleotide variant |
not specified [RCV004268408] |
Chr3:52440481 [GRCh38] Chr3:52474497 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.229G>A (p.Ala77Thr) |
single nucleotide variant |
not specified [RCV004260329] |
Chr3:52442794 [GRCh38] Chr3:52476810 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.640dup (p.Ser214fs) |
duplication |
SEMA3G-related disorder [RCV003393087] |
Chr3:52441600..52441601 [GRCh38] Chr3:52475616..52475617 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.206G>T (p.Arg69Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV003393119] |
Chr3:52442817 [GRCh38] Chr3:52476833 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003418822] |
Chr3:52440067 [GRCh38] Chr3:52474083 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.75C>A (p.Ser25Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV003420841] |
Chr3:52444953 [GRCh38] Chr3:52478969 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1681C>T (p.Arg561Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003408731] |
Chr3:52438028 [GRCh38] Chr3:52472044 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1261C>T (p.Arg421Ter) |
single nucleotide variant |
SEMA3G-related disorder [RCV003402742] |
Chr3:52439981 [GRCh38] Chr3:52473997 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.789C>G (p.Val263=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003397613] |
Chr3:52441288 [GRCh38] Chr3:52475304 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1585T>C (p.Cys529Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV003397640] |
Chr3:52438124 [GRCh38] Chr3:52472140 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1907C>T (p.Thr636Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV003397671] |
Chr3:52436045 [GRCh38] Chr3:52470061 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV003427967]|not specified [RCV004857970] |
Chr3:52442818 [GRCh38] Chr3:52476834 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1174C>T (p.Arg392Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003434759] |
Chr3:52440068 [GRCh38] Chr3:52474084 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.272G>A (p.Arg91Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003419223]|not specified [RCV004857971] |
Chr3:52442751 [GRCh38] Chr3:52476767 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2161C>T (p.Arg721Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003419189] |
Chr3:52435791 [GRCh38] Chr3:52469807 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2021T>C (p.Ile674Thr) |
single nucleotide variant |
SEMA3G-related disorder [RCV003412027]|not specified [RCV004362785] |
Chr3:52435931 [GRCh38] Chr3:52469947 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2055G>A (p.Pro685=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003412187] |
Chr3:52435897 [GRCh38] Chr3:52469913 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.1607G>A (p.Arg536Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003420703] |
Chr3:52438102 [GRCh38] Chr3:52472118 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1040C>A (p.Ala347Glu) |
single nucleotide variant |
SEMA3G-related disorder [RCV003420776] |
Chr3:52440480 [GRCh38] Chr3:52474496 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1793G>T (p.Ser598Ile) |
single nucleotide variant |
SEMA3G-related disorder [RCV003399578] |
Chr3:52437612 [GRCh38] Chr3:52471628 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2237G>A (p.Arg746Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003422439] |
Chr3:52435715 [GRCh38] Chr3:52469731 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2329C>T (p.Arg777Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003402921] |
Chr3:52435623 [GRCh38] Chr3:52469639 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2300G>A (p.Arg767Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003414205] |
Chr3:52435652 [GRCh38] Chr3:52469668 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.101G>A (p.Arg34Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003405979]|not specified [RCV004857968] |
Chr3:52444927 [GRCh38] Chr3:52478943 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.892G>A (p.Gly298Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV003414475]|not specified [RCV004362823] |
Chr3:52440970 [GRCh38] Chr3:52474986 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1574dup (p.Tyr525Ter) |
duplication |
SEMA3G-related disorder [RCV003414574] |
Chr3:52438134..52438135 [GRCh38] Chr3:52472150..52472151 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.970G>C (p.Glu324Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003427778] |
Chr3:52440782 [GRCh38] Chr3:52474798 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.980C>T (p.Ala327Val) |
single nucleotide variant |
SEMA3G-related disorder [RCV003402859] |
Chr3:52440772 [GRCh38] Chr3:52474788 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1435G>A (p.Glu479Lys) |
single nucleotide variant |
SEMA3G-related disorder [RCV003393078]|not specified [RCV004364449] |
Chr3:52439712 [GRCh38] Chr3:52473728 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1887G>A (p.Thr629=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003939497] |
Chr3:52436065 [GRCh38] Chr3:52470081 [GRCh37] Chr3:3p21.1 |
likely benign |
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 |
copy number loss |
not specified [RCV003986409] |
Chr3:51149374..59265315 [GRCh37] Chr3:3p21.2-14.2 |
pathogenic |
NM_020163.3(SEMA3G):c.21C>A (p.Ala7=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003892275] |
Chr3:52445007 [GRCh38] Chr3:52479023 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1944C>T (p.Phe648=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003969513] |
Chr3:52436008 [GRCh38] Chr3:52470024 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.804C>T (p.Arg268=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003897054] |
Chr3:52441273 [GRCh38] Chr3:52475289 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.348C>T (p.Cys116=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899092] |
Chr3:52442296 [GRCh38] Chr3:52476312 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1670G>A (p.Arg557His) |
single nucleotide variant |
SEMA3G-related disorder [RCV003912191] |
Chr3:52438039 [GRCh38] Chr3:52472055 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1890C>T (p.Asp630=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899385] |
Chr3:52436062 [GRCh38] Chr3:52470078 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1376-5C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV003914052] |
Chr3:52439776 [GRCh38] Chr3:52473792 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.340-7C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV003961721] |
Chr3:52442311 [GRCh38] Chr3:52476327 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2148C>T (p.Phe716=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003983681] |
Chr3:52435804 [GRCh38] Chr3:52469820 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.891C>T (p.Pro297=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003902045] |
Chr3:52440971 [GRCh38] Chr3:52474987 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.506G>A (p.Arg169Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003961914] |
Chr3:52441863 [GRCh38] Chr3:52475879 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1596C>T (p.Cys532=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003909716] |
Chr3:52438113 [GRCh38] Chr3:52472129 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2326C>T (p.Pro776Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV003959132] |
Chr3:52435626 [GRCh38] Chr3:52469642 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1782G>A (p.Thr594=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003923840] |
Chr3:52437623 [GRCh38] Chr3:52471639 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1317C>A (p.Ile439=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003959388] |
Chr3:52439925 [GRCh38] Chr3:52473941 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.358G>A (p.Val120Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV003904660] |
Chr3:52442286 [GRCh38] Chr3:52476302 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1485C>T (p.Thr495=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003924094] |
Chr3:52438944 [GRCh38] Chr3:52472960 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.516C>T (p.His172=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003959604] |
Chr3:52441853 [GRCh38] Chr3:52475869 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2079A>C (p.Pro693=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003924348] |
Chr3:52435873 [GRCh38] Chr3:52469889 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2182C>T (p.Arg728Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV003921489] |
Chr3:52435770 [GRCh38] Chr3:52469786 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.993_994insT (p.Val332fs) |
insertion |
SEMA3G-related disorder [RCV003921551] |
Chr3:52440758..52440759 [GRCh38] Chr3:52474774..52474775 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1236C>G (p.Pro412=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003898992] |
Chr3:52440006 [GRCh38] Chr3:52474022 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2231G>A (p.Arg744Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003959848] |
Chr3:52435721 [GRCh38] Chr3:52469737 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1653C>T (p.Arg551=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003896357] |
Chr3:52438056 [GRCh38] Chr3:52472072 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.340-4G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV003951417] |
Chr3:52442308 [GRCh38] Chr3:52476324 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.90G>A (p.Val30=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003931584] |
Chr3:52444938 [GRCh38] Chr3:52478954 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1161C>T (p.Thr387=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003963992] |
Chr3:52440081 [GRCh38] Chr3:52474097 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2001C>T (p.Val667=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899544] |
Chr3:52435951 [GRCh38] Chr3:52469967 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1062C>T (p.Asn354=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003949461] |
Chr3:52440458 [GRCh38] Chr3:52474474 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2346G>A (p.Thr782=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003956670] |
Chr3:52435606 [GRCh38] Chr3:52469622 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1879-7A>G |
single nucleotide variant |
SEMA3G-related disorder [RCV003896541] |
Chr3:52436080 [GRCh38] Chr3:52470096 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.459+3G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV003966852] |
Chr3:52442182 [GRCh38] Chr3:52476198 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.885G>T (p.Ser295=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003957204] |
Chr3:52440977 [GRCh38] Chr3:52474993 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.814-8T>C |
single nucleotide variant |
SEMA3G-related disorder [RCV003984608] |
Chr3:52441056 [GRCh38] Chr3:52475072 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1939C>T (p.Arg647Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV003914073] |
Chr3:52436013 [GRCh38] Chr3:52470029 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1965C>A (p.Cys655Ter) |
single nucleotide variant |
SEMA3G-related disorder [RCV003957401] |
Chr3:52435987 [GRCh38] Chr3:52470003 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.320G>A (p.Arg107Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003961809] |
Chr3:52442578 [GRCh38] Chr3:52476594 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.271C>T (p.Arg91Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003959173]|not specified [RCV004369848] |
Chr3:52442752 [GRCh38] Chr3:52476768 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.1063G>A (p.Gly355Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV003927154] |
Chr3:52440457 [GRCh38] Chr3:52474473 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.256G>T (p.Ala86Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV003904628] |
Chr3:52442767 [GRCh38] Chr3:52476783 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1692C>T (p.Ile564=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003901833] |
Chr3:52438017 [GRCh38] Chr3:52472033 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.744G>A (p.Ser248=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003951902] |
Chr3:52441333 [GRCh38] Chr3:52475349 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2025G>A (p.Val675=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003966833] |
Chr3:52435927 [GRCh38] Chr3:52469943 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2074C>T (p.Pro692Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV003947241] |
Chr3:52435878 [GRCh38] Chr3:52469894 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.668-24_668-9del |
deletion |
SEMA3G-related disorder [RCV003924016] |
Chr3:52441418..52441433 [GRCh38] Chr3:52475434..52475449 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.592C>T (p.Arg198Ter) |
single nucleotide variant |
SEMA3G-related disorder [RCV003976807] |
Chr3:52441649 [GRCh38] Chr3:52475665 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2027C>A (p.Ala676Asp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003916778] |
Chr3:52435925 [GRCh38] Chr3:52469941 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1908G>A (p.Thr636=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003959022] |
Chr3:52436044 [GRCh38] Chr3:52470060 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.505C>T (p.Arg169Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV003917204] |
Chr3:52441864 [GRCh38] Chr3:52475880 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.82C>T (p.Pro28Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899521] |
Chr3:52444946 [GRCh38] Chr3:52478962 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.810C>T (p.Cys270=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899811] |
Chr3:52441267 [GRCh38] Chr3:52475283 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.527G>A (p.Arg176His) |
single nucleotide variant |
SEMA3G-related disorder [RCV003904598] |
Chr3:52441842 [GRCh38] Chr3:52475858 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.552C>T (p.Asp184=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003893809] |
Chr3:52441689 [GRCh38] Chr3:52475705 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1533G>A (p.Arg511=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003894357] |
Chr3:52438176 [GRCh38] Chr3:52472192 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1950G>A (p.Ala650=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003894581] |
Chr3:52436002 [GRCh38] Chr3:52470018 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1353C>T (p.Tyr451=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003956662] |
Chr3:52439889 [GRCh38] Chr3:52473905 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1498T>G (p.Ser500Ala) |
single nucleotide variant |
SEMA3G-related disorder [RCV003894699] |
Chr3:52438931 [GRCh38] Chr3:52472947 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1449G>A (p.Glu483=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003934521] |
Chr3:52439698 [GRCh38] Chr3:52473714 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1376-9T>C |
single nucleotide variant |
SEMA3G-related disorder [RCV003914356] |
Chr3:52439780 [GRCh38] Chr3:52473796 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1738+6T>C |
single nucleotide variant |
SEMA3G-related disorder [RCV003914777]|not provided [RCV004711983] |
Chr3:52437965 [GRCh38] Chr3:52471981 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1468-4C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV003947312] |
Chr3:52438965 [GRCh38] Chr3:52472981 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1317C>T (p.Ile439=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003976777] |
Chr3:52439925 [GRCh38] Chr3:52473941 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.615T>G (p.Ser205Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV003969522] |
Chr3:52441626 [GRCh38] Chr3:52475642 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.56G>A (p.Gly19Glu) |
single nucleotide variant |
SEMA3G-related disorder [RCV003898941] |
Chr3:52444972 [GRCh38] Chr3:52478988 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.690C>T (p.Ala230=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899551] |
Chr3:52441387 [GRCh38] Chr3:52475403 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.885G>A (p.Ser295=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899787] |
Chr3:52440977 [GRCh38] Chr3:52474993 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1904A>C (p.His635Pro) |
single nucleotide variant |
SEMA3G-related disorder [RCV003899798] |
Chr3:52436048 [GRCh38] Chr3:52470064 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV003894626] |
Chr3:52442823 [GRCh38] Chr3:52476839 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.906C>T (p.Ala302=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003971538] |
Chr3:52440956 [GRCh38] Chr3:52474972 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.551-3del |
deletion |
SEMA3G-related disorder [RCV003894223] |
Chr3:52441693 [GRCh38] Chr3:52475709 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2205G>A (p.Thr735=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003914116] |
Chr3:52435747 [GRCh38] Chr3:52469763 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.821C>T (p.Ala274Val) |
single nucleotide variant |
SEMA3G-related disorder [RCV003971996]|not provided [RCV004711994] |
Chr3:52441041 [GRCh38] Chr3:52475057 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.978C>T (p.Tyr326=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003951562] |
Chr3:52440774 [GRCh38] Chr3:52474790 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.592del (p.Arg198fs) |
deletion |
SEMA3G-related disorder [RCV003973808] |
Chr3:52441649 [GRCh38] Chr3:52475665 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.414C>T (p.Ala138=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003973844] |
Chr3:52442230 [GRCh38] Chr3:52476246 [GRCh37] Chr3:3p21.1 |
benign |
NM_020163.3(SEMA3G):c.2340G>A (p.Glu780=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003974055] |
Chr3:52435612 [GRCh38] Chr3:52469628 [GRCh37] Chr3:3p21.1 |
benign |
NM_020163.3(SEMA3G):c.1776C>T (p.Tyr592=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003896767] |
Chr3:52437629 [GRCh38] Chr3:52471645 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1475C>T (p.Thr492Ile) |
single nucleotide variant |
SEMA3G-related disorder [RCV003896855]|not specified [RCV004858011] |
Chr3:52438954 [GRCh38] Chr3:52472970 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1077C>T (p.His359=) |
single nucleotide variant |
SEMA3G-related disorder [RCV003976723] |
Chr3:52440443 [GRCh38] Chr3:52474459 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2086G>A (p.Gly696Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747425]|not specified [RCV004450581] |
Chr3:52435866 [GRCh38] Chr3:52469882 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2306A>G (p.His769Arg) |
single nucleotide variant |
not specified [RCV004450585] |
Chr3:52435646 [GRCh38] Chr3:52469662 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.907G>A (p.Glu303Lys) |
single nucleotide variant |
not specified [RCV004450592] |
Chr3:52440955 [GRCh38] Chr3:52474971 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1180T>C (p.Phe394Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747421]|not specified [RCV004450573] |
Chr3:52440062 [GRCh38] Chr3:52474078 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1704C>A (p.Asn568Lys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747424]|not specified [RCV004450577] |
Chr3:52438005 [GRCh38] Chr3:52472021 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2204C>T (p.Thr735Met) |
single nucleotide variant |
not specified [RCV004450582] |
Chr3:52435748 [GRCh38] Chr3:52469764 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.274G>A (p.Glu92Lys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747426]|not specified [RCV004450587] |
Chr3:52442749 [GRCh38] Chr3:52476765 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1061A>G (p.Asn354Ser) |
single nucleotide variant |
not specified [RCV004450570] |
Chr3:52440459 [GRCh38] Chr3:52474475 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1222G>T (p.Ala408Ser) |
single nucleotide variant |
not specified [RCV004450574] |
Chr3:52440020 [GRCh38] Chr3:52474036 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2039A>C (p.Asp680Ala) |
single nucleotide variant |
not specified [RCV004450579] |
Chr3:52435913 [GRCh38] Chr3:52469929 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2225G>A (p.Arg742Gln) |
single nucleotide variant |
not specified [RCV004450583] |
Chr3:52435727 [GRCh38] Chr3:52469743 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.811G>A (p.Val271Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747427]|not specified [RCV004450590] |
Chr3:52441266 [GRCh38] Chr3:52475282 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1079G>A (p.Arg360Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747420]|not specified [RCV004450571] |
Chr3:52440441 [GRCh38] Chr3:52474457 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.1093C>T (p.His365Tyr) |
single nucleotide variant |
not specified [RCV004450572] |
Chr3:52440427 [GRCh38] Chr3:52474443 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1262G>A (p.Arg421Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747422]|not specified [RCV004450575] |
Chr3:52439980 [GRCh38] Chr3:52473996 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2059C>G (p.Pro687Ala) |
single nucleotide variant |
not specified [RCV004450580] |
Chr3:52435893 [GRCh38] Chr3:52469909 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.353A>G (p.Asn118Ser) |
single nucleotide variant |
not specified [RCV004450589] |
Chr3:52442291 [GRCh38] Chr3:52476307 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.819T>G (p.Asp273Glu) |
single nucleotide variant |
not specified [RCV004450591] |
Chr3:52441043 [GRCh38] Chr3:52475059 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1531C>T (p.Arg511Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747423]|not specified [RCV004450576] |
Chr3:52438178 [GRCh38] Chr3:52472194 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1867G>A (p.Gly623Arg) |
single nucleotide variant |
not specified [RCV004450578] |
Chr3:52437538 [GRCh38] Chr3:52471554 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.271C>G (p.Arg91Gly) |
single nucleotide variant |
not specified [RCV004450586] |
Chr3:52442752 [GRCh38] Chr3:52476768 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.301C>G (p.Gln101Glu) |
single nucleotide variant |
not specified [RCV004450588] |
Chr3:52442597 [GRCh38] Chr3:52476613 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.362G>A (p.Arg121Gln) |
single nucleotide variant |
not specified [RCV004667075] |
Chr3:52442282 [GRCh38] Chr3:52476298 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1111G>A (p.Gly371Arg) |
single nucleotide variant |
not specified [RCV004663777] |
Chr3:52440409 [GRCh38] Chr3:52474425 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1357G>A (p.Val453Ile) |
single nucleotide variant |
not specified [RCV004663779] |
Chr3:52439885 [GRCh38] Chr3:52473901 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1913G>A (p.Arg638Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747449]|not specified [RCV004663773] |
Chr3:52436039 [GRCh38] Chr3:52470055 [GRCh37] Chr3:3p21.1 |
likely benign|uncertain significance |
NM_020163.3(SEMA3G):c.2299C>T (p.Arg767Trp) |
single nucleotide variant |
not specified [RCV004663775] |
Chr3:52435653 [GRCh38] Chr3:52469669 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.383G>A (p.Arg128Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747451]|not specified [RCV004663776] |
Chr3:52442261 [GRCh38] Chr3:52476277 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1256G>A (p.Arg419Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747450]|not specified [RCV004663774] |
Chr3:52439986 [GRCh38] Chr3:52474002 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1430C>T (p.Pro477Leu) |
single nucleotide variant |
not specified [RCV004663780] |
Chr3:52439717 [GRCh38] Chr3:52473733 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1564T>C (p.Cys522Arg) |
single nucleotide variant |
not specified [RCV004663782] |
Chr3:52438145 [GRCh38] Chr3:52472161 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1586G>A (p.Cys529Tyr) |
single nucleotide variant |
not specified [RCV004663781] |
Chr3:52438123 [GRCh38] Chr3:52472139 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2123del (p.Lys708fs) |
deletion |
SEMA3G-related disorder [RCV004724457] |
Chr3:52435829 [GRCh38] Chr3:52469845 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1575C>T (p.Tyr525=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745644] |
Chr3:52438134 [GRCh38] Chr3:52472150 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1104G>A (p.Gly368=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745708] |
Chr3:52440416 [GRCh38] Chr3:52474432 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.237C>T (p.Tyr79=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745709] |
Chr3:52442786 [GRCh38] Chr3:52476802 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.78C>T (p.Pro26=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745722] |
Chr3:52444950 [GRCh38] Chr3:52478966 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1926C>T (p.Phe642=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745802] |
Chr3:52436026 [GRCh38] Chr3:52470042 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.364G>T (p.Val122Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745849] |
Chr3:52442280 [GRCh38] Chr3:52476296 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.958G>C (p.Gly320Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745889] |
Chr3:52440794 [GRCh38] Chr3:52474810 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.260G>A (p.Trp87Ter) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745937] |
Chr3:52442763 [GRCh38] Chr3:52476779 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2133G>A (p.Leu711=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746003] |
Chr3:52435819 [GRCh38] Chr3:52469835 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1014C>T (p.Gly338=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746732] |
Chr3:52440506 [GRCh38] Chr3:52474522 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1218G>A (p.Gln406=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746784] |
Chr3:52440024 [GRCh38] Chr3:52474040 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1002C>T (p.Ala334=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746843] |
Chr3:52440518 [GRCh38] Chr3:52474534 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.387C>T (p.Thr129=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747008] |
Chr3:52442257 [GRCh38] Chr3:52476273 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2096C>T (p.Ala699Val) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747457] |
Chr3:52435856 [GRCh38] Chr3:52469872 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1284C>T (p.Val428=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745755] |
Chr3:52439958 [GRCh38] Chr3:52473974 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1467+7A>C |
single nucleotide variant |
SEMA3G-related disorder [RCV004745822] |
Chr3:52439673 [GRCh38] Chr3:52473689 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.182T>C (p.Met61Thr) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745880] |
Chr3:52442841 [GRCh38] Chr3:52476857 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1282G>A (p.Val428Ile) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747795] |
Chr3:52439960 [GRCh38] Chr3:52473976 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.750G>A (p.Thr250=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747805] |
Chr3:52441327 [GRCh38] Chr3:52475343 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2325G>A (p.Thr775=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747994] |
Chr3:52435627 [GRCh38] Chr3:52469643 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2183G>A (p.Arg728His) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747951] |
Chr3:52435769 [GRCh38] Chr3:52469785 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.846C>T (p.Asn282=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004726259] |
Chr3:52441016 [GRCh38] Chr3:52475032 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.291G>A (p.Pro97=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746044] |
Chr3:52442607 [GRCh38] Chr3:52476623 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1527C>T (p.Gly509=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746068] |
Chr3:52438182 [GRCh38] Chr3:52472198 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1293C>T (p.His431=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746689] |
Chr3:52439949 [GRCh38] Chr3:52473965 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.218G>A (p.Gly73Asp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746781] |
Chr3:52442805 [GRCh38] Chr3:52476821 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.*4G>C |
single nucleotide variant |
SEMA3G-related disorder [RCV004746833] |
Chr3:52435599 [GRCh38] Chr3:52469615 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1878+7G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV004746920] |
Chr3:52437520 [GRCh38] Chr3:52471536 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.803G>A (p.Arg268His) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746977] |
Chr3:52441274 [GRCh38] Chr3:52475290 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1698C>T (p.His566=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746996] |
Chr3:52438011 [GRCh38] Chr3:52472027 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.199C>G (p.Arg67Gly) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747579] |
Chr3:52442824 [GRCh38] Chr3:52476840 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.999-5G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV004747595] |
Chr3:52440526 [GRCh38] Chr3:52474542 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.734TCT[2] (p.Phe247del) |
microsatellite |
SEMA3G-related disorder [RCV004747735] |
Chr3:52441335..52441337 [GRCh38] Chr3:52475351..52475353 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747752] |
Chr3:52444915 [GRCh38] Chr3:52478931 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1401C>T (p.Ile467=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747878] |
Chr3:52439746 [GRCh38] Chr3:52473762 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.115+3A>G |
single nucleotide variant |
SEMA3G-related disorder [RCV004747881] |
Chr3:52444910 [GRCh38] Chr3:52478926 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1380_1381del (p.Gly461fs) |
deletion |
SEMA3G-related disorder [RCV004747893] |
Chr3:52439766..52439767 [GRCh38] Chr3:52473782..52473783 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1210G>C (p.Val404Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747920] |
Chr3:52440032 [GRCh38] Chr3:52474048 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.45C>G (p.Leu15=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747973] |
Chr3:52444983 [GRCh38] Chr3:52478999 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1651C>T (p.Arg551Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747928] |
Chr3:52438058 [GRCh38] Chr3:52472074 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2185G>A (p.Val729Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747988] |
Chr3:52435767 [GRCh38] Chr3:52469783 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.565A>G (p.Thr189Ala) |
single nucleotide variant |
SEMA3G-related disorder [RCV004729986] |
Chr3:52441676 [GRCh38] Chr3:52475692 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.417C>T (p.Phe139=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745792] |
Chr3:52442227 [GRCh38] Chr3:52476243 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.180C>T (p.Ala60=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746042] |
Chr3:52442843 [GRCh38] Chr3:52476859 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1908G>C (p.Thr636=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746049] |
Chr3:52436044 [GRCh38] Chr3:52470060 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1923G>C (p.Leu641=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746666] |
Chr3:52436029 [GRCh38] Chr3:52470045 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1041A>G (p.Ala347=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746734] |
Chr3:52440479 [GRCh38] Chr3:52474495 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.553G>A (p.Gly185Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746890] |
Chr3:52441688 [GRCh38] Chr3:52475704 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2046G>C (p.Leu682=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746926] |
Chr3:52435906 [GRCh38] Chr3:52469922 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1271G>A (p.Arg424His) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746984] |
Chr3:52439971 [GRCh38] Chr3:52473987 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1467+3A>C |
single nucleotide variant |
SEMA3G-related disorder [RCV004746985] |
Chr3:52439677 [GRCh38] Chr3:52473693 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.998+2T>G |
single nucleotide variant |
SEMA3G-related disorder [RCV004728226] |
Chr3:52440752 [GRCh38] Chr3:52474768 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1412C>G (p.Ala471Gly) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747558] |
Chr3:52439735 [GRCh38] Chr3:52473751 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.290C>T (p.Pro97Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747677] |
Chr3:52442608 [GRCh38] Chr3:52476624 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.656G>C (p.Ser219Thr) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747764] |
Chr3:52441585 [GRCh38] Chr3:52475601 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.958G>A (p.Gly320Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747793] |
Chr3:52440794 [GRCh38] Chr3:52474810 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1895G>A (p.Arg632Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004748002] |
Chr3:52436057 [GRCh38] Chr3:52470073 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.115+7G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV004745651] |
Chr3:52444906 [GRCh38] Chr3:52478922 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1123C>T (p.Pro375Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745699] |
Chr3:52440397 [GRCh38] Chr3:52474413 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1509+3A>G |
single nucleotide variant |
SEMA3G-related disorder [RCV004745844] |
Chr3:52438917 [GRCh38] Chr3:52472933 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1187G>A (p.Ser396Asn) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745827] |
Chr3:52440055 [GRCh38] Chr3:52474071 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1480A>G (p.Ile494Val) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745888] |
Chr3:52438949 [GRCh38] Chr3:52472965 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1510-6C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV004745957] |
Chr3:52438205 [GRCh38] Chr3:52472221 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2340G>C (p.Glu780Asp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745987] |
Chr3:52435612 [GRCh38] Chr3:52469628 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.244C>T (p.Arg82Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746052] |
Chr3:52442779 [GRCh38] Chr3:52476795 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1652G>A (p.Arg551His) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746773]|not specified [RCV004858031] |
Chr3:52438057 [GRCh38] Chr3:52472073 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.245G>A (p.Arg82Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746774] |
Chr3:52442778 [GRCh38] Chr3:52476794 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1879-10C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV004746852] |
Chr3:52436083 [GRCh38] Chr3:52470099 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2245_2259del (p.Gln749_Lys753del) |
deletion |
SEMA3G-related disorder [RCV004746854] |
Chr3:52435693..52435707 [GRCh38] Chr3:52469709..52469723 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1371G>A (p.Gly457=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746913] |
Chr3:52439871 [GRCh38] Chr3:52473887 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.36A>G (p.Leu12=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747001] |
Chr3:52444992 [GRCh38] Chr3:52479008 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2289G>A (p.Lys763=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747519] |
Chr3:52435663 [GRCh38] Chr3:52469679 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.884C>T (p.Ser295Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747487] |
Chr3:52440978 [GRCh38] Chr3:52474994 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1003G>A (p.Val335Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747863]|not specified [RCV004858026] |
Chr3:52440517 [GRCh38] Chr3:52474533 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2197G>A (p.Gly733Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747873] |
Chr3:52435755 [GRCh38] Chr3:52469771 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2126A>G (p.Asp709Gly) |
single nucleotide variant |
SEMA3G-related disorder [RCV004730012] |
Chr3:52435826 [GRCh38] Chr3:52469842 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1124C>G (p.Pro375Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004730131] |
Chr3:52440396 [GRCh38] Chr3:52474412 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1917G>A (p.Gly639=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745703] |
Chr3:52436035 [GRCh38] Chr3:52470051 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1035C>A (p.His345Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745700] |
Chr3:52440485 [GRCh38] Chr3:52474501 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1879-4G>C |
single nucleotide variant |
SEMA3G-related disorder [RCV004745723] |
Chr3:52436077 [GRCh38] Chr3:52470093 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.610C>T (p.Arg204Ter) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745823] |
Chr3:52441631 [GRCh38] Chr3:52475647 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.537C>G (p.Ala179=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745881] |
Chr3:52441832 [GRCh38] Chr3:52475848 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1878+8A>T |
single nucleotide variant |
SEMA3G-related disorder [RCV004745984] |
Chr3:52437519 [GRCh38] Chr3:52471535 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.349G>A (p.Ala117Thr) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746061] |
Chr3:52442295 [GRCh38] Chr3:52476311 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.*2A>G |
single nucleotide variant |
SEMA3G-related disorder [RCV004746084] |
Chr3:52435601 [GRCh38] Chr3:52469617 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.361C>A (p.Arg121=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746700] |
Chr3:52442283 [GRCh38] Chr3:52476299 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1576G>A (p.Gly526Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746813] |
Chr3:52438133 [GRCh38] Chr3:52472149 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2236C>T (p.Arg746Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746975] |
Chr3:52435716 [GRCh38] Chr3:52469732 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.324G>A (p.Lys108=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747022] |
Chr3:52442574 [GRCh38] Chr3:52476590 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.526C>T (p.Arg176Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747025] |
Chr3:52441843 [GRCh38] Chr3:52475859 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1418G>C (p.Gly473Ala) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747589] |
Chr3:52439729 [GRCh38] Chr3:52473745 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.980C>A (p.Ala327Glu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747646] |
Chr3:52440772 [GRCh38] Chr3:52474788 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1879-9G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV004747845] |
Chr3:52436082 [GRCh38] Chr3:52470098 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.814-4G>T |
single nucleotide variant |
SEMA3G-related disorder [RCV004747851] |
Chr3:52441052 [GRCh38] Chr3:52475068 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2253G>A (p.Arg751=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747922] |
Chr3:52435699 [GRCh38] Chr3:52469715 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1739-3C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV004726239] |
Chr3:52437669 [GRCh38] Chr3:52471685 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1475C>G (p.Thr492Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004726401] |
Chr3:52438954 [GRCh38] Chr3:52472970 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1281T>C (p.Leu427=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745769] |
Chr3:52439961 [GRCh38] Chr3:52473977 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.471C>T (p.His157=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745865] |
Chr3:52441898 [GRCh38] Chr3:52475914 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2286G>A (p.Lys762=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745868] |
Chr3:52435666 [GRCh38] Chr3:52469682 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.272G>T (p.Arg91Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745955] |
Chr3:52442751 [GRCh38] Chr3:52476767 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.802C>G (p.Arg268Gly) |
single nucleotide variant |
SEMA3G-related disorder [RCV004728043] |
Chr3:52441275 [GRCh38] Chr3:52475291 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.550+7G>A |
single nucleotide variant |
SEMA3G-related disorder [RCV004746108] |
Chr3:52441812 [GRCh38] Chr3:52475828 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1020C>T (p.Ala340=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746637] |
Chr3:52440500 [GRCh38] Chr3:52474516 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1699G>A (p.Gly567Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746752] |
Chr3:52438010 [GRCh38] Chr3:52472026 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.821C>G (p.Ala274Gly) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746797] |
Chr3:52441041 [GRCh38] Chr3:52475057 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1673G>A (p.Arg558Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746894] |
Chr3:52438036 [GRCh38] Chr3:52472052 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1920G>A (p.Leu640=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747501] |
Chr3:52436032 [GRCh38] Chr3:52470048 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1270C>T (p.Arg424Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747617] |
Chr3:52439972 [GRCh38] Chr3:52473988 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.709G>C (p.Asp237His) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747900] |
Chr3:52441368 [GRCh38] Chr3:52475384 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.454G>A (p.Gly152Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747914] |
Chr3:52442190 [GRCh38] Chr3:52476206 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1663G>C (p.Gly555Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004726642] |
Chr3:52438046 [GRCh38] Chr3:52472062 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.170A>C (p.Asn57Thr) |
single nucleotide variant |
SEMA3G-related disorder [RCV004728220] |
Chr3:52442853 [GRCh38] Chr3:52476869 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.685_709dup (p.Asp237delinsGlyArgProAspProTer) |
duplication |
SEMA3G-related disorder [RCV004724390] |
Chr3:52441367..52441368 [GRCh38] Chr3:52475383..52475384 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1190C>A (p.Thr397Asn) |
single nucleotide variant |
SEMA3G-related disorder [RCV004728473] |
Chr3:52440052 [GRCh38] Chr3:52474068 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.228C>T (p.Asp76=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745718] |
Chr3:52442795 [GRCh38] Chr3:52476811 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.702G>T (p.Glu234Asp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745697] |
Chr3:52441375 [GRCh38] Chr3:52475391 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1097A>G (p.Gln366Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745760] |
Chr3:52440423 [GRCh38] Chr3:52474439 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.156C>T (p.Pro52=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745806] |
Chr3:52442867 [GRCh38] Chr3:52476883 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.500G>C (p.Arg167Pro) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745904] |
Chr3:52441869 [GRCh38] Chr3:52475885 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2134C>A (p.Gln712Lys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745934] |
Chr3:52435818 [GRCh38] Chr3:52469834 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1263A>C (p.Arg421=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745952] |
Chr3:52439979 [GRCh38] Chr3:52473995 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1668G>A (p.Lys556=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745960] |
Chr3:52438041 [GRCh38] Chr3:52472057 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.519G>A (p.Glu173=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004745994] |
Chr3:52441850 [GRCh38] Chr3:52475866 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.500G>A (p.Arg167Gln) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746036]|not specified [RCV004858030] |
Chr3:52441869 [GRCh38] Chr3:52475885 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.309G>A (p.Glu103=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746045] |
Chr3:52442589 [GRCh38] Chr3:52476605 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.504G>A (p.Gly168=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746048] |
Chr3:52441865 [GRCh38] Chr3:52475881 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.276+5G>C |
single nucleotide variant |
SEMA3G-related disorder [RCV004746611] |
Chr3:52442742 [GRCh38] Chr3:52476758 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.355T>C (p.Phe119Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746668] |
Chr3:52442289 [GRCh38] Chr3:52476305 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1923G>T (p.Leu641=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746647] |
Chr3:52436029 [GRCh38] Chr3:52470045 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1935T>C (p.Leu645=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746698] |
Chr3:52436017 [GRCh38] Chr3:52470033 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1467+6C>A |
single nucleotide variant |
SEMA3G-related disorder [RCV004746733] |
Chr3:52439674 [GRCh38] Chr3:52473690 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2114C>T (p.Ala705Val) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746795] |
Chr3:52435838 [GRCh38] Chr3:52469854 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1486G>A (p.Glu496Lys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746809] |
Chr3:52438943 [GRCh38] Chr3:52472959 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.891C>G (p.Pro297=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746849] |
Chr3:52440971 [GRCh38] Chr3:52474987 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.115+5C>T |
single nucleotide variant |
SEMA3G-related disorder [RCV004746820] |
Chr3:52444908 [GRCh38] Chr3:52478924 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.1912C>T (p.Arg638Trp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746855] |
Chr3:52436040 [GRCh38] Chr3:52470056 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.774G>A (p.Ser258=) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746917] |
Chr3:52441303 [GRCh38] Chr3:52475319 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.773C>T (p.Ser258Leu) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746962] |
Chr3:52441304 [GRCh38] Chr3:52475320 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1865A>T (p.Glu622Val) |
single nucleotide variant |
SEMA3G-related disorder [RCV004746967] |
Chr3:52437540 [GRCh38] Chr3:52471556 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2191T>C (p.Cys731Arg) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747584] |
Chr3:52435761 [GRCh38] Chr3:52469777 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1580C>T (p.Thr527Ile) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747650] |
Chr3:52438129 [GRCh38] Chr3:52472145 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.793C>T (p.Arg265Cys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747818] |
Chr3:52441284 [GRCh38] Chr3:52475300 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.667G>A (p.Asp223Asn) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747833] |
Chr3:52441574 [GRCh38] Chr3:52475590 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1120G>A (p.Val374Met) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747910]|not specified [RCV004858027] |
Chr3:52440400 [GRCh38] Chr3:52474416 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.289C>T (p.Pro97Ser) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747889] |
Chr3:52442609 [GRCh38] Chr3:52476625 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.381C>A (p.Asn127Lys) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747916] |
Chr3:52442263 [GRCh38] Chr3:52476279 [GRCh37] Chr3:3p21.1 |
likely benign |
NM_020163.3(SEMA3G):c.2305C>G (p.His769Asp) |
single nucleotide variant |
SEMA3G-related disorder [RCV004747921] |
Chr3:52435647 [GRCh38] Chr3:52469663 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2038G>A (p.Asp680Asn) |
single nucleotide variant |
SEMA3G-related disorder [RCV004726676] |
Chr3:52435914 [GRCh38] Chr3:52469930 [GRCh37] Chr3:3p21.1 |
uncertain significance |
GRCh37/hg19 3p21.2-21.1(chr3:51962412-53969609)x1 |
copy number loss |
not provided [RCV004819336] |
Chr3:51962412..53969609 [GRCh37] Chr3:3p21.2-21.1 |
pathogenic |
NM_020163.3(SEMA3G):c.1940G>A (p.Arg647His) |
single nucleotide variant |
not specified [RCV004863777] |
Chr3:52436012 [GRCh38] Chr3:52470028 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.1437A>T (p.Glu479Asp) |
single nucleotide variant |
not specified [RCV004863778] |
Chr3:52439710 [GRCh38] Chr3:52473726 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.133C>T (p.Arg45Cys) |
single nucleotide variant |
not specified [RCV004863779] |
Chr3:52442890 [GRCh38] Chr3:52476906 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
not specified [RCV004863780] |
Chr3:52442301 [GRCh38] Chr3:52476317 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2068G>A (p.Glu690Lys) |
single nucleotide variant |
not specified [RCV004863781] |
Chr3:52435884 [GRCh38] Chr3:52469900 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.364G>A (p.Val122Met) |
single nucleotide variant |
not specified [RCV004863782] |
Chr3:52442280 [GRCh38] Chr3:52476296 [GRCh37] Chr3:3p21.1 |
uncertain significance |
NM_020163.3(SEMA3G):c.2062A>G (p.Lys688Glu) |
single nucleotide variant |
not specified [RCV004863783] |
Chr3:52435890 [GRCh38] Chr3:52469906 [GRCh37] Chr3:3p21.1 |
uncertain significance |