| GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3 |
pathogenic |
| GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] |
Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34 |
pathogenic |
| GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] |
Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3 |
pathogenic |
| NM_201266.1(NRP2):c.2582C>T (p.Thr861Ile) |
single nucleotide variant |
Malignant melanoma [RCV000060466] |
Chr2:205794844 [GRCh38]
Chr2:206659568 [GRCh37]
Chr2:206367813 [NCBI36]
Chr2:2q33.3 |
not provided |
| NM_003872.3(NRP2):c.2568C>T (p.Thr856=) |
single nucleotide variant |
NRP2-related disorder [RCV003915029]|not provided [RCV000923492] |
Chr2:205794845 [GRCh38]
Chr2:206659569 [GRCh37]
Chr2:206367814 [NCBI36]
Chr2:2q33.3 |
likely benign|not provided |
| NM_003872.3(NRP2):c.2425+9718_2425+9719insA |
insertion |
NRP2-related disorder [RCV003967545]|not specified [RCV000202952] |
Chr2:205776521..205776522 [GRCh38]
Chr2:206641245..206641246 [GRCh37]
Chr2:2q33.3 |
benign |
| GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 |
copy number gain |
See cases [RCV000139446] |
Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2 |
pathogenic |
| GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4 |
copy number gain |
See cases [RCV000139198] |
Chr2:205163962..206491669 [GRCh38]
Chr2:206028686..207356393 [GRCh37]
Chr2:205736931..207064638 [NCBI36]
Chr2:2q33.3 |
likely pathogenic |
| GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 |
copy number loss |
See cases [RCV000139629] |
Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34 |
pathogenic |
| GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 |
copy number loss |
See cases [RCV000141254] |
Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35 |
pathogenic |
| GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 |
copy number loss |
See cases [RCV000141076] |
Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 |
copy number loss |
See cases [RCV000143301] |
Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 |
copy number gain |
See cases [RCV000448271] |
Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q33.3(chr2:205801070-206805019)x3 |
copy number gain |
See cases [RCV000512016] |
Chr2:205801070..206805019 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys) |
single nucleotide variant |
Hirschsprung disease, susceptibility to, 1 [RCV000508614]|NRP2-related disorder [RCV003920028]|not provided [RCV004692883] |
Chr2:205727900 [GRCh38]
Chr2:206592624 [GRCh37]
Chr2:2q33.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003872.3(NRP2):c.2118del (p.Val707fs) |
deletion |
Inborn genetic diseases [RCV000623908]|NRP2-related disorder [RCV004748864] |
Chr2:205763747 [GRCh38]
Chr2:206628471 [GRCh37]
Chr2:2q33.3 |
likely pathogenic|uncertain significance |
| NM_003872.3(NRP2):c.1411C>A (p.Arg471Ser) |
single nucleotide variant |
not specified [RCV004307397] |
Chr2:205743322 [GRCh38]
Chr2:206608046 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| GRCh37/hg19 2q33.3(chr2:205758734-206958189)x3 |
copy number gain |
not provided [RCV000682121] |
Chr2:205758734..206958189 [GRCh37]
Chr2:2q33.3 |
likely benign |
| GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 |
copy number gain |
not provided [RCV000682166] |
Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q33.3(chr2:206490951-206612585)x3 |
copy number gain |
not provided [RCV000740853] |
Chr2:206490951..206612585 [GRCh37]
Chr2:2q33.3 |
benign |
| GRCh37/hg19 2q33.3(chr2:206491696-206614091)x3 |
copy number gain |
not provided [RCV000740854] |
Chr2:206491696..206614091 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.387C>A (p.Ala129=) |
single nucleotide variant |
NRP2-related disorder [RCV003895707]|not provided [RCV000939018] |
Chr2:205716328 [GRCh38]
Chr2:206581052 [GRCh37]
Chr2:2q33.3 |
benign|likely benign |
| NM_003872.3(NRP2):c.2316C>T (p.Phe772=) |
single nucleotide variant |
NRP2-related disorder [RCV003913184]|not provided [RCV000939816] |
Chr2:205765482 [GRCh38]
Chr2:206630206 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2679C>T (p.Ser893=) |
single nucleotide variant |
not provided [RCV000893132] |
Chr2:205794956 [GRCh38]
Chr2:206659680 [GRCh37]
Chr2:2q33.3 |
benign |
| Single allele |
duplication |
Neurodevelopmental disorder [RCV000787403] |
Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2 |
pathogenic |
| NM_003872.3(NRP2):c.368A>G (p.Lys123Arg) |
single nucleotide variant |
not provided [RCV000948613]|not specified [RCV002249585] |
Chr2:205716309 [GRCh38]
Chr2:206581033 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.1831G>A (p.Glu611Lys) |
single nucleotide variant |
NRP2-related disorder [RCV003950805]|not provided [RCV000914535] |
Chr2:205749769 [GRCh38]
Chr2:206614493 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2649C>T (p.Leu883=) |
single nucleotide variant |
NRP2-related disorder [RCV003895603]|not provided [RCV000921083] |
Chr2:205794926 [GRCh38]
Chr2:206659650 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.762G>A (p.Ala254=) |
single nucleotide variant |
NRP2-related disorder [RCV003953355]|not provided [RCV000976077] |
Chr2:205723882 [GRCh38]
Chr2:206588606 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1737G>A (p.Ser579=) |
single nucleotide variant |
NRP2-related disorder [RCV003936145]|not provided [RCV000972219] |
Chr2:205745841 [GRCh38]
Chr2:206610565 [GRCh37]
Chr2:2q33.3 |
benign|likely benign |
| NM_003872.3(NRP2):c.123C>T (p.Thr41=) |
single nucleotide variant |
NRP2-related disorder [RCV003918503]|not provided [RCV000972689] |
Chr2:205697593 [GRCh38]
Chr2:206562317 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.1953C>T (p.Leu651=) |
single nucleotide variant |
NRP2-related disorder [RCV003950853]|not provided [RCV000918020] |
Chr2:205752884 [GRCh38]
Chr2:206617608 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.420G>A (p.Glu140=) |
single nucleotide variant |
NRP2-related disorder [RCV003895599]|not provided [RCV000920580] |
Chr2:205716361 [GRCh38]
Chr2:206581085 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1146+7C>T |
single nucleotide variant |
not provided [RCV000963111] |
Chr2:205728053 [GRCh38]
Chr2:206592777 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1449C>T (p.Pro483=) |
single nucleotide variant |
not provided [RCV000898224] |
Chr2:205743360 [GRCh38]
Chr2:206608084 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.559A>G (p.Ile187Val) |
single nucleotide variant |
NRP2-related disorder [RCV003920829]|not provided [RCV000895139] |
Chr2:205722603 [GRCh38]
Chr2:206587327 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+24A>T |
single nucleotide variant |
NRP2-related disorder [RCV004749548]|not provided [RCV000927395] |
Chr2:205766827 [GRCh38]
Chr2:206631551 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.180C>T (p.Tyr60=) |
single nucleotide variant |
NRP2-related disorder [RCV003962918]|not provided [RCV000974438] |
Chr2:205697650 [GRCh38]
Chr2:206562374 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1719A>G (p.Val573=) |
single nucleotide variant |
NRP2-related disorder [RCV004749576]|not provided [RCV000977350] |
Chr2:205745823 [GRCh38]
Chr2:206610547 [GRCh37]
Chr2:2q33.3 |
likely benign |
| GRCh37/hg19 2q33.3(chr2:205800577-206805019)x3 |
copy number gain |
not provided [RCV000847147] |
Chr2:205800577..206805019 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34 |
pathogenic |
| NM_003872.3(NRP2):c.1450G>A (p.Gly484Ser) |
single nucleotide variant |
NRP2-related disorder [RCV003966310]|not provided [RCV003312515] |
Chr2:205743361 [GRCh38]
Chr2:206608085 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.41A>G (p.Tyr14Cys) |
single nucleotide variant |
not specified [RCV004328843] |
Chr2:205683331 [GRCh38]
Chr2:206548055 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.996C>T (p.Asp332=) |
single nucleotide variant |
not provided [RCV000933510] |
Chr2:205727896 [GRCh38]
Chr2:206592620 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1800G>A (p.Thr600=) |
single nucleotide variant |
NRP2-related disorder [RCV003936146]|not provided [RCV000972220] |
Chr2:205749738 [GRCh38]
Chr2:206614462 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1149A>G (p.Val383=) |
single nucleotide variant |
not provided [RCV000963811] |
Chr2:205740521 [GRCh38]
Chr2:206605245 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.860G>A (p.Arg287Gln) |
single nucleotide variant |
NRP2-related disorder [RCV003928595]|not provided [RCV000974941] |
Chr2:205725952 [GRCh38]
Chr2:206590676 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.962A>T (p.Asn321Ile) |
single nucleotide variant |
not provided [RCV000904432] |
Chr2:205726054 [GRCh38]
Chr2:206590778 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.1404= (p.Val468=) |
variation |
not provided [RCV000958061] |
Chr2:205743315 [GRCh38]
Chr2:206608039 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.726G>A (p.Thr242=) |
single nucleotide variant |
not provided [RCV000956028] |
Chr2:205723846 [GRCh38]
Chr2:206588570 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.838C>T (p.Pro280Ser) |
single nucleotide variant |
NRP2-related disorder [RCV003975619]|not provided [RCV000890555] |
Chr2:205725930 [GRCh38]
Chr2:206590654 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1416G>A (p.Ser472=) |
single nucleotide variant |
NRP2-related disorder [RCV003902914]|not provided [RCV000912924] |
Chr2:205743327 [GRCh38]
Chr2:206608051 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1333A>C (p.Ile445Leu) |
single nucleotide variant |
not provided [RCV000890758] |
Chr2:205743244 [GRCh38]
Chr2:206607968 [GRCh37]
Chr2:2q33.3 |
likely benign |
| GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 |
copy number loss |
not provided [RCV001258576] |
Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34 |
pathogenic |
| GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3 |
copy number gain |
not provided [RCV001270640] |
Chr2:204312776..208235204 [GRCh37]
Chr2:2q33.2-33.3 |
uncertain significance |
| GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) |
copy number loss |
Chromosome 2q32-q33 deletion syndrome [RCV002280608] |
Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34 |
pathogenic |
| GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) |
copy number loss |
not specified [RCV002053275] |
Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34 |
pathogenic |
| GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) |
copy number gain |
not specified [RCV002053265] |
Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35 |
pathogenic |
| NC_000002.11:g.(?_203420070)_(211811277_?)del |
deletion |
Primary pulmonary hypertension [RCV002016799] |
Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34 |
uncertain significance |
| NM_003872.3(NRP2):c.1565G>A (p.Arg522His) |
single nucleotide variant |
not specified [RCV004323194] |
Chr2:205743476 [GRCh38]
Chr2:206608200 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 |
copy number loss |
not provided [RCV002473800] |
Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34 |
pathogenic |
| NM_003872.3(NRP2):c.914C>A (p.Thr305Asn) |
single nucleotide variant |
not specified [RCV004108224] |
Chr2:205726006 [GRCh38]
Chr2:206590730 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.905G>A (p.Gly302Glu) |
single nucleotide variant |
NRP2-related disorder [RCV003395687]|not specified [RCV004236819] |
Chr2:205725997 [GRCh38]
Chr2:206590721 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2090G>A (p.Gly697Asp) |
single nucleotide variant |
NRP2-related disorder [RCV004750331]|not specified [RCV004181598] |
Chr2:205763719 [GRCh38]
Chr2:206628443 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2131C>G (p.Arg711Gly) |
single nucleotide variant |
not specified [RCV004082820] |
Chr2:205763760 [GRCh38]
Chr2:206628484 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1411C>G (p.Arg471Gly) |
single nucleotide variant |
not specified [RCV004172330] |
Chr2:205743322 [GRCh38]
Chr2:206608046 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.554T>A (p.Met185Lys) |
single nucleotide variant |
NRP2-related disorder [RCV004750311]|not specified [RCV004081923] |
Chr2:205722598 [GRCh38]
Chr2:206587322 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1799C>T (p.Thr600Met) |
single nucleotide variant |
NRP2-related disorder [RCV003396838]|not specified [RCV004184408] |
Chr2:205749737 [GRCh38]
Chr2:206614461 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.904G>A (p.Gly302Arg) |
single nucleotide variant |
not specified [RCV004205888] |
Chr2:205725996 [GRCh38]
Chr2:206590720 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1609T>C (p.Tyr537His) |
single nucleotide variant |
not specified [RCV004124941] |
Chr2:205743520 [GRCh38]
Chr2:206608244 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.55C>G (p.Gln19Glu) |
single nucleotide variant |
NRP2-related disorder [RCV003906628]|not specified [RCV004219097] |
Chr2:205683345 [GRCh38]
Chr2:206548069 [GRCh37]
Chr2:2q33.3 |
likely benign|uncertain significance |
| NM_003872.3(NRP2):c.187G>A (p.Glu63Lys) |
single nucleotide variant |
not provided [RCV004695457]|not specified [RCV004129824] |
Chr2:205697657 [GRCh38]
Chr2:206562381 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1409G>C (p.Ser470Thr) |
single nucleotide variant |
not specified [RCV004158463] |
Chr2:205743320 [GRCh38]
Chr2:206608044 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1199C>G (p.Ala400Gly) |
single nucleotide variant |
not specified [RCV004176482] |
Chr2:205740571 [GRCh38]
Chr2:206605295 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2356A>G (p.Ile786Val) |
single nucleotide variant |
not specified [RCV004075502] |
Chr2:205765522 [GRCh38]
Chr2:206630246 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+7A>C |
single nucleotide variant |
not specified [RCV004278222] |
Chr2:205766810 [GRCh38]
Chr2:206631534 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1830C>G (p.Ser610Arg) |
single nucleotide variant |
not specified [RCV004273541] |
Chr2:205749768 [GRCh38]
Chr2:206614492 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.41A>T (p.Tyr14Phe) |
single nucleotide variant |
not specified [RCV004259377] |
Chr2:205683331 [GRCh38]
Chr2:206548055 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2254G>A (p.Gly752Ser) |
single nucleotide variant |
not specified [RCV004272918] |
Chr2:205763883 [GRCh38]
Chr2:206628607 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2026A>C (p.Asn676His) |
single nucleotide variant |
not specified [RCV004271272] |
Chr2:205752957 [GRCh38]
Chr2:206617681 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.304G>A (p.Gly102Ser) |
single nucleotide variant |
not specified [RCV004274665] |
Chr2:205716245 [GRCh38]
Chr2:206580969 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.418G>C (p.Glu140Gln) |
single nucleotide variant |
NRP2-related disorder [RCV004750362]|not specified [RCV004290329] |
Chr2:205716359 [GRCh38]
Chr2:206581083 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 |
copy number gain |
See cases [RCV003329558] |
Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1 |
pathogenic |
| NM_003872.3(NRP2):c.1412G>A (p.Arg471His) |
single nucleotide variant |
NRP2-related disorder [RCV003422431] |
Chr2:205743323 [GRCh38]
Chr2:206608047 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.191C>T (p.Pro64Leu) |
single nucleotide variant |
NRP2-related disorder [RCV004750371]|not specified [RCV004347438] |
Chr2:205697661 [GRCh38]
Chr2:206562385 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2285C>A (p.Pro762His) |
single nucleotide variant |
NRP2-related disorder [RCV004750372]|not specified [RCV004347439] |
Chr2:205763914 [GRCh38]
Chr2:206628638 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2537C>T (p.Ser846Leu) |
single nucleotide variant |
NRP2-related disorder [RCV003420847] |
Chr2:205794814 [GRCh38]
Chr2:206659538 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2029G>T (p.Asp677Tyr) |
single nucleotide variant |
NRP2-related disorder [RCV003420849] |
Chr2:205752960 [GRCh38]
Chr2:206617684 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2773G>A (p.Glu925Lys) |
single nucleotide variant |
NRP2-related disorder [RCV003419163] |
Chr2:205795050 [GRCh38]
Chr2:206659774 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1468G>C (p.Val490Leu) |
single nucleotide variant |
not specified [RCV004361969] |
Chr2:205743379 [GRCh38]
Chr2:206608103 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1808C>G (p.Thr603Arg) |
single nucleotide variant |
not specified [RCV004352100] |
Chr2:205749746 [GRCh38]
Chr2:206614470 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1715G>A (p.Arg572Gln) |
single nucleotide variant |
NRP2-related disorder [RCV003419195] |
Chr2:205745819 [GRCh38]
Chr2:206610543 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1879G>A (p.Gly627Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003429073] |
Chr2:205749817 [GRCh38]
Chr2:206614541 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2542G>A (p.Asp848Asn) |
single nucleotide variant |
NRP2-related disorder [RCV003408809] |
Chr2:205794819 [GRCh38]
Chr2:206659543 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1996C>T (p.Arg666Trp) |
single nucleotide variant |
NRP2-related disorder [RCV003419144] |
Chr2:205752927 [GRCh38]
Chr2:206617651 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1841C>T (p.Thr614Ile) |
single nucleotide variant |
NRP2-related disorder [RCV003421040] |
Chr2:205749779 [GRCh38]
Chr2:206614503 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1685G>A (p.Arg562Lys) |
single nucleotide variant |
NRP2-related disorder [RCV003399657] |
Chr2:205745789 [GRCh38]
Chr2:206610513 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2132G>A (p.Arg711Gln) |
single nucleotide variant |
NRP2-related disorder [RCV003419117] |
Chr2:205763761 [GRCh38]
Chr2:206628485 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2530G>A (p.Ala844Thr) |
single nucleotide variant |
NRP2-related disorder [RCV003412115] |
Chr2:205794807 [GRCh38]
Chr2:206659531 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
NRP2-related disorder [RCV003412238] |
Chr2:205725942 [GRCh38]
Chr2:206590666 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2338C>T (p.Arg780Cys) |
single nucleotide variant |
NRP2-related disorder [RCV003391241] |
Chr2:205765504 [GRCh38]
Chr2:206630228 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.85G>A (p.Gly29Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003421005] |
Chr2:205697555 [GRCh38]
Chr2:206562279 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1282C>T (p.Arg428Trp) |
single nucleotide variant |
NRP2-related disorder [RCV003408653] |
Chr2:205740654 [GRCh38]
Chr2:206605378 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.788G>A (p.Arg263His) |
single nucleotide variant |
NRP2-related disorder [RCV003408757] |
Chr2:205723908 [GRCh38]
Chr2:206588632 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1059G>C (p.Gln353His) |
single nucleotide variant |
NRP2-related disorder [RCV003392747]|not specified [RCV004362853] |
Chr2:205727959 [GRCh38]
Chr2:206592683 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.725C>T (p.Thr242Met) |
single nucleotide variant |
NRP2-related disorder [RCV003392760] |
Chr2:205723845 [GRCh38]
Chr2:206588569 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1411C>T (p.Arg471Cys) |
single nucleotide variant |
NRP2-related disorder [RCV003402873] |
Chr2:205743322 [GRCh38]
Chr2:206608046 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9476T>A |
single nucleotide variant |
NRP2-related disorder [RCV003392852] |
Chr2:205776279 [GRCh38]
Chr2:206641003 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.472G>C (p.Gly158Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003392841] |
Chr2:205722516 [GRCh38]
Chr2:206587240 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1001G>A (p.Arg334His) |
single nucleotide variant |
NRP2-related disorder [RCV003399751]|not specified [RCV004837884] |
Chr2:205727901 [GRCh38]
Chr2:206592625 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1019C>T (p.Thr340Met) |
single nucleotide variant |
NRP2-related disorder [RCV003417109]|not specified [RCV004701053] |
Chr2:205727919 [GRCh38]
Chr2:206592643 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.670C>A (p.Pro224Thr) |
single nucleotide variant |
NRP2-related disorder [RCV003402861]|not specified [RCV004364451] |
Chr2:205723790 [GRCh38]
Chr2:206588514 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2494T>C (p.Trp832Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003410807] |
Chr2:205794771 [GRCh38]
Chr2:206659495 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9584A>G |
single nucleotide variant |
NRP2-related disorder [RCV003414082] |
Chr2:205776387 [GRCh38]
Chr2:206641111 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9707G>A |
single nucleotide variant |
NRP2-related disorder [RCV003418765]|not provided [RCV003883993] |
Chr2:205776510 [GRCh38]
Chr2:206641234 [GRCh37]
Chr2:2q33.3 |
likely benign|uncertain significance |
| NM_003872.3(NRP2):c.2115C>T (p.Pro705=) |
single nucleotide variant |
NRP2-related disorder [RCV003939490] |
Chr2:205763744 [GRCh38]
Chr2:206628468 [GRCh37]
Chr2:2q33.3 |
likely benign |
| GRCh37/hg19 2q33.3(chr2:206042721-207004795)x1 |
copy number loss |
not specified [RCV003986221] |
Chr2:206042721..207004795 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 |
copy number loss |
not specified [RCV003986210] |
Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34 |
pathogenic |
| GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 |
copy number loss |
not specified [RCV003986323] |
Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34 |
pathogenic |
| NM_003872.3(NRP2):c.129C>T (p.Pro43=) |
single nucleotide variant |
NRP2-related disorder [RCV003892303] |
Chr2:205697599 [GRCh38]
Chr2:206562323 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2323G>A (p.Val775Met) |
single nucleotide variant |
NRP2-related disorder [RCV003899663] |
Chr2:205765489 [GRCh38]
Chr2:206630213 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1197C>T (p.His399=) |
single nucleotide variant |
NRP2-related disorder [RCV003894612] |
Chr2:205740569 [GRCh38]
Chr2:206605293 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2046T>C (p.Asp682=) |
single nucleotide variant |
NRP2-related disorder [RCV003901493] |
Chr2:205763675 [GRCh38]
Chr2:206628399 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2564A>T (p.Tyr855Phe) |
single nucleotide variant |
NRP2-related disorder [RCV003966994] |
Chr2:205794841 [GRCh38]
Chr2:206659565 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1071T>C (p.Tyr357=) |
single nucleotide variant |
NRP2-related disorder [RCV003974437] |
Chr2:205727971 [GRCh38]
Chr2:206592695 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.433+9G>T |
single nucleotide variant |
NRP2-related disorder [RCV003897149] |
Chr2:205716383 [GRCh38]
Chr2:206581107 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1787-5C>T |
single nucleotide variant |
NRP2-related disorder [RCV003898944] |
Chr2:205749720 [GRCh38]
Chr2:206614444 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.150C>G (p.Pro50=) |
single nucleotide variant |
NRP2-related disorder [RCV003899081] |
Chr2:205697620 [GRCh38]
Chr2:206562344 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2477-3C>T |
single nucleotide variant |
NRP2-related disorder [RCV003983375] |
Chr2:205794751 [GRCh38]
Chr2:206659475 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.785C>T (p.Ala262Val) |
single nucleotide variant |
NRP2-related disorder [RCV003913927] |
Chr2:205723905 [GRCh38]
Chr2:206588629 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2402T>C (p.Met801Thr) |
single nucleotide variant |
NRP2-related disorder [RCV003983729] |
Chr2:205765568 [GRCh38]
Chr2:206630292 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2028C>T (p.Asn676=) |
single nucleotide variant |
NRP2-related disorder [RCV003901823] |
Chr2:205752959 [GRCh38]
Chr2:206617683 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9705C>T |
single nucleotide variant |
NRP2-related disorder [RCV003952297] |
Chr2:205776508 [GRCh38]
Chr2:206641232 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.234C>T (p.Ile78=) |
single nucleotide variant |
NRP2-related disorder [RCV003927266] |
Chr2:205697704 [GRCh38]
Chr2:206562428 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.168G>A (p.Glu56=) |
single nucleotide variant |
NRP2-related disorder [RCV003904309] |
Chr2:205697638 [GRCh38]
Chr2:206562362 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2508T>C (p.Ser836=) |
single nucleotide variant |
NRP2-related disorder [RCV003902041] |
Chr2:205794785 [GRCh38]
Chr2:206659509 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1522G>A (p.Gly508Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003954841] |
Chr2:205743433 [GRCh38]
Chr2:206608157 [GRCh37]
Chr2:2q33.3 |
likely benign|uncertain significance |
| NM_003872.3(NRP2):c.1147-9A>G |
single nucleotide variant |
NRP2-related disorder [RCV003936777] |
Chr2:205740510 [GRCh38]
Chr2:206605234 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2529C>T (p.Gly843=) |
single nucleotide variant |
NRP2-related disorder [RCV003969795] |
Chr2:205794806 [GRCh38]
Chr2:206659530 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2768G>C (p.Cys923Ser) |
single nucleotide variant |
NRP2-related disorder [RCV003899114] |
Chr2:205795045 [GRCh38]
Chr2:206659769 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1743G>A (p.Ala581=) |
single nucleotide variant |
NRP2-related disorder [RCV003921699] |
Chr2:205745847 [GRCh38]
Chr2:206610571 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2590A>G (p.Ile864Val) |
single nucleotide variant |
NRP2-related disorder [RCV003951827] |
Chr2:205794867 [GRCh38]
Chr2:206659591 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1041G>A (p.Ala347=) |
single nucleotide variant |
NRP2-related disorder [RCV003979224] |
Chr2:205727941 [GRCh38]
Chr2:206592665 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+16G>A |
single nucleotide variant |
NRP2-related disorder [RCV003966898] |
Chr2:205766819 [GRCh38]
Chr2:206631543 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.251+9C>T |
single nucleotide variant |
NRP2-related disorder [RCV003949123] |
Chr2:205697730 [GRCh38]
Chr2:206562454 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2656A>T (p.Thr886Ser) |
single nucleotide variant |
NRP2-related disorder [RCV003964246] |
Chr2:205794933 [GRCh38]
Chr2:206659657 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.991-9A>C |
single nucleotide variant |
NRP2-related disorder [RCV003962013] |
Chr2:205727882 [GRCh38]
Chr2:206592606 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.870T>C (p.Asn290=) |
single nucleotide variant |
NRP2-related disorder [RCV003967396] |
Chr2:205725962 [GRCh38]
Chr2:206590686 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.1593C>T (p.Asn531=) |
single nucleotide variant |
NRP2-related disorder [RCV003949512] |
Chr2:205743504 [GRCh38]
Chr2:206608228 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2569C>G (p.Leu857Val) |
single nucleotide variant |
NRP2-related disorder [RCV003894017] |
Chr2:205794846 [GRCh38]
Chr2:206659570 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1875G>A (p.Glu625=) |
single nucleotide variant |
NRP2-related disorder [RCV003949564] |
Chr2:205749813 [GRCh38]
Chr2:206614537 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1164C>T (p.Asn388=) |
single nucleotide variant |
NRP2-related disorder [RCV003913821] |
Chr2:205740536 [GRCh38]
Chr2:206605260 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1641+24G>T |
single nucleotide variant |
NRP2-related disorder [RCV003921427] |
Chr2:205743576 [GRCh38]
Chr2:206608300 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1785A>C (p.Thr595=) |
single nucleotide variant |
NRP2-related disorder [RCV003921621] |
Chr2:205745889 [GRCh38]
Chr2:206610613 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1682G>A (p.Arg561Gln) |
single nucleotide variant |
NRP2-related disorder [RCV003937268] |
Chr2:205745786 [GRCh38]
Chr2:206610510 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2772C>T (p.Ser924=) |
single nucleotide variant |
NRP2-related disorder [RCV003894676] |
Chr2:205795049 [GRCh38]
Chr2:206659773 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.354C>T (p.Ser118=) |
single nucleotide variant |
NRP2-related disorder [RCV003914016] |
Chr2:205716295 [GRCh38]
Chr2:206581019 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1455G>A (p.Glu485=) |
single nucleotide variant |
NRP2-related disorder [RCV003937363] |
Chr2:205743366 [GRCh38]
Chr2:206608090 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1598A>G (p.Lys533Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003894700]|not specified [RCV004837934] |
Chr2:205743509 [GRCh38]
Chr2:206608233 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2037G>A (p.Thr679=) |
single nucleotide variant |
NRP2-related disorder [RCV003901506] |
Chr2:205752968 [GRCh38]
Chr2:206617692 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1147-8C>T |
single nucleotide variant |
NRP2-related disorder [RCV003957359] |
Chr2:205740511 [GRCh38]
Chr2:206605235 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9729G>A |
single nucleotide variant |
NRP2-related disorder [RCV003961874] |
Chr2:205776532 [GRCh38]
Chr2:206641256 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2116C>G (p.Pro706Ala) |
single nucleotide variant |
NRP2-related disorder [RCV003896939] |
Chr2:205763745 [GRCh38]
Chr2:206628469 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.649G>A (p.Asp217Asn) |
single nucleotide variant |
NRP2-related disorder [RCV003901626] |
Chr2:205722693 [GRCh38]
Chr2:206587417 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1641+29G>A |
single nucleotide variant |
NRP2-related disorder [RCV003904688] |
Chr2:205743581 [GRCh38]
Chr2:206608305 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9733C>T |
single nucleotide variant |
NRP2-related disorder [RCV003923845] |
Chr2:205776536 [GRCh38]
Chr2:206641260 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1808C>T (p.Thr603Met) |
single nucleotide variant |
NRP2-related disorder [RCV003968963] |
Chr2:205749746 [GRCh38]
Chr2:206614470 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1321C>T (p.Leu441Phe) |
single nucleotide variant |
NRP2-related disorder [RCV003932279] |
Chr2:205743232 [GRCh38]
Chr2:206607956 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1857C>T (p.Thr619=) |
single nucleotide variant |
NRP2-related disorder [RCV003896313] |
Chr2:205749795 [GRCh38]
Chr2:206614519 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1989G>A (p.Lys663=) |
single nucleotide variant |
NRP2-related disorder [RCV003954347] |
Chr2:205752920 [GRCh38]
Chr2:206617644 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2512G>C (p.Ala838Pro) |
single nucleotide variant |
NRP2-related disorder [RCV003947238] |
Chr2:205794789 [GRCh38]
Chr2:206659513 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2571G>A (p.Leu857=) |
single nucleotide variant |
NRP2-related disorder [RCV003898949] |
Chr2:205794848 [GRCh38]
Chr2:206659572 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.2350A>G (p.Ile784Val) |
single nucleotide variant |
NRP2-related disorder [RCV003898985] |
Chr2:205765516 [GRCh38]
Chr2:206630240 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2307+6G>A |
single nucleotide variant |
NRP2-related disorder [RCV003899089] |
Chr2:205763942 [GRCh38]
Chr2:206628666 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9714_2425+9717del |
deletion |
NRP2-related disorder [RCV003964356] |
Chr2:205776516..205776519 [GRCh38]
Chr2:206641240..206641243 [GRCh37]
Chr2:2q33.3 |
benign|likely benign |
| NM_003872.3(NRP2):c.2425+9489C>A |
single nucleotide variant |
NRP2-related disorder [RCV003974639] |
Chr2:205776292 [GRCh38]
Chr2:206641016 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.618G>C (p.Gly206=) |
single nucleotide variant |
NRP2-related disorder [RCV003959057] |
Chr2:205722662 [GRCh38]
Chr2:206587386 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.*2G>A |
single nucleotide variant |
NRP2-related disorder [RCV003899803] |
Chr2:205795060 [GRCh38]
Chr2:206659784 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.251+10G>A |
single nucleotide variant |
NRP2-related disorder [RCV003904764] |
Chr2:205697731 [GRCh38]
Chr2:206562455 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1062T>G (p.Asn354Lys) |
single nucleotide variant |
NRP2-related disorder [RCV003959454] |
Chr2:205727962 [GRCh38]
Chr2:206592686 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.186C>T (p.Pro62=) |
single nucleotide variant |
NRP2-related disorder [RCV003894136] |
Chr2:205697656 [GRCh38]
Chr2:206562380 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2477-5C>T |
single nucleotide variant |
NRP2-related disorder [RCV003913881] |
Chr2:205794749 [GRCh38]
Chr2:206659473 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2613C>T (p.Gly871=) |
single nucleotide variant |
NRP2-related disorder [RCV003934427] |
Chr2:205794890 [GRCh38]
Chr2:206659614 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1468G>A (p.Val490Ile) |
single nucleotide variant |
NRP2-related disorder [RCV003934476] |
Chr2:205743379 [GRCh38]
Chr2:206608103 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1780T>C (p.Trp594Arg) |
single nucleotide variant |
NRP2-related disorder [RCV003954720] |
Chr2:205745884 [GRCh38]
Chr2:206610608 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1674T>G (p.Pro558=) |
single nucleotide variant |
NRP2-related disorder [RCV003982320] |
Chr2:205745778 [GRCh38]
Chr2:206610502 [GRCh37]
Chr2:2q33.3 |
benign |
| NM_003872.3(NRP2):c.2033G>A (p.Arg678Gln) |
single nucleotide variant |
NRP2-related disorder [RCV003954602] |
Chr2:205752964 [GRCh38]
Chr2:206617688 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9714G>A |
single nucleotide variant |
NRP2-related disorder [RCV003956859] |
Chr2:205776517 [GRCh38]
Chr2:206641241 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2541C>T (p.Thr847=) |
single nucleotide variant |
NRP2-related disorder [RCV003944206] |
Chr2:205794818 [GRCh38]
Chr2:206659542 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.470A>T (p.Asn157Ile) |
single nucleotide variant |
NRP2-related disorder [RCV003901751]|not specified [RCV004837930] |
Chr2:205722514 [GRCh38]
Chr2:206587238 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1725G>A (p.Pro575=) |
single nucleotide variant |
NRP2-related disorder [RCV003901862] |
Chr2:205745829 [GRCh38]
Chr2:206610553 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.81G>A (p.Pro27=) |
single nucleotide variant |
NRP2-related disorder [RCV003954883] |
Chr2:205697551 [GRCh38]
Chr2:206562275 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.971C>G (p.Ser324Cys) |
single nucleotide variant |
NRP2-related disorder [RCV004750473]|not specified [RCV004493615] |
Chr2:205726063 [GRCh38]
Chr2:206590787 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1179G>A (p.Val393=) |
single nucleotide variant |
NRP2-related disorder [RCV003899764] |
Chr2:205740551 [GRCh38]
Chr2:206605275 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1541C>T (p.Ala514Val) |
single nucleotide variant |
NRP2-related disorder [RCV003894244] |
Chr2:205743452 [GRCh38]
Chr2:206608176 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2758C>A (p.Gln920Lys) |
single nucleotide variant |
NRP2-related disorder [RCV003901931] |
Chr2:205795035 [GRCh38]
Chr2:206659759 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.716G>A (p.Arg239His) |
single nucleotide variant |
NRP2-related disorder [RCV003922198] |
Chr2:205723836 [GRCh38]
Chr2:206588560 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.810G>A (p.Glu270=) |
single nucleotide variant |
NRP2-related disorder [RCV003967170] |
Chr2:205723930 [GRCh38]
Chr2:206588654 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9657G>T |
single nucleotide variant |
NRP2-related disorder [RCV003902128] |
Chr2:205776460 [GRCh38]
Chr2:206641184 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2139G>A (p.Pro713=) |
single nucleotide variant |
NRP2-related disorder [RCV003896400] |
Chr2:205763768 [GRCh38]
Chr2:206628492 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1641+28C>T |
single nucleotide variant |
NRP2-related disorder [RCV003922155] |
Chr2:205743580 [GRCh38]
Chr2:206608304 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2124C>T (p.His708=) |
single nucleotide variant |
NRP2-related disorder [RCV003909416]|not provided [RCV004711977] |
Chr2:205763753 [GRCh38]
Chr2:206628477 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.696C>T (p.Thr232=) |
single nucleotide variant |
NRP2-related disorder [RCV003896498] |
Chr2:205723816 [GRCh38]
Chr2:206588540 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1944C>T (p.Phe648=) |
single nucleotide variant |
NRP2-related disorder [RCV003896533] |
Chr2:205752875 [GRCh38]
Chr2:206617599 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1563G>A (p.Val521=) |
single nucleotide variant |
NRP2-related disorder [RCV003952294] |
Chr2:205743474 [GRCh38]
Chr2:206608198 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1851C>T (p.Tyr617=) |
single nucleotide variant |
NRP2-related disorder [RCV003896675] |
Chr2:205749789 [GRCh38]
Chr2:206614513 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.166G>A (p.Glu56Lys) |
single nucleotide variant |
not specified [RCV004493609] |
Chr2:205697636 [GRCh38]
Chr2:206562360 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.262A>G (p.Ile88Val) |
single nucleotide variant |
not specified [RCV004493611] |
Chr2:205716203 [GRCh38]
Chr2:206580927 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+22A>G |
single nucleotide variant |
NRP2-related disorder [RCV003904304] |
Chr2:205766825 [GRCh38]
Chr2:206631549 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1145A>G (p.Lys382Arg) |
single nucleotide variant |
not specified [RCV004493607] |
Chr2:205728045 [GRCh38]
Chr2:206592769 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.337A>G (p.Ile113Val) |
single nucleotide variant |
not specified [RCV004493612] |
Chr2:205716278 [GRCh38]
Chr2:206581002 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1467G>A (p.Gln489=) |
single nucleotide variant |
NRP2-related disorder [RCV003897103] |
Chr2:205743378 [GRCh38]
Chr2:206608102 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.92G>A (p.Arg31His) |
single nucleotide variant |
NRP2-related disorder [RCV004750472]|not specified [RCV004493614] |
Chr2:205697562 [GRCh38]
Chr2:206562286 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1262G>A (p.Arg421Gln) |
single nucleotide variant |
not specified [RCV004493608] |
Chr2:205740634 [GRCh38]
Chr2:206605358 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.859C>T (p.Arg287Trp) |
single nucleotide variant |
not specified [RCV004493613] |
Chr2:205725951 [GRCh38]
Chr2:206590675 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2475T>C (p.Asp825=) |
single nucleotide variant |
NRP2-related disorder [RCV003969034] |
Chr2:205792284 [GRCh38]
Chr2:206657008 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9543G>A |
single nucleotide variant |
NRP2-related disorder [RCV003946876] |
Chr2:205776346 [GRCh38]
Chr2:206641070 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1997G>A (p.Arg666Gln) |
single nucleotide variant |
not specified [RCV004638716] |
Chr2:205752928 [GRCh38]
Chr2:206617652 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1925C>T (p.Ser642Leu) |
single nucleotide variant |
not specified [RCV004650464] |
Chr2:205752856 [GRCh38]
Chr2:206617580 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.8T>A (p.Met3Lys) |
single nucleotide variant |
not specified [RCV004650465] |
Chr2:205683298 [GRCh38]
Chr2:206548022 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2408C>G (p.Pro803Arg) |
single nucleotide variant |
NRP2-related disorder [RCV004724681] |
Chr2:205766786 [GRCh38]
Chr2:206631510 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1517C>T (p.Ala506Val) |
single nucleotide variant |
NRP2-related disorder [RCV004748172] |
Chr2:205743428 [GRCh38]
Chr2:206608152 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2339G>A (p.Arg780His) |
single nucleotide variant |
NRP2-related disorder [RCV004748383] |
Chr2:205765505 [GRCh38]
Chr2:206630229 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
NRP2-related disorder [RCV004748486] |
Chr2:205740655 [GRCh38]
Chr2:206605379 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2196G>A (p.Val732=) |
single nucleotide variant |
NRP2-related disorder [RCV004749001] |
Chr2:205763825 [GRCh38]
Chr2:206628549 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2327T>C (p.Ile776Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004749033] |
Chr2:205765493 [GRCh38]
Chr2:206630217 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1631A>G (p.Gln544Arg) |
single nucleotide variant |
NRP2-related disorder [RCV004749204] |
Chr2:205743542 [GRCh38]
Chr2:206608266 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9468G>A |
single nucleotide variant |
NRP2-related disorder [RCV004749295] |
Chr2:205776271 [GRCh38]
Chr2:206640995 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9669G>A |
single nucleotide variant |
NRP2-related disorder [RCV004749367] |
Chr2:205776472 [GRCh38]
Chr2:206641196 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2259G>C (p.Glu753Asp) |
single nucleotide variant |
NRP2-related disorder [RCV004749966] |
Chr2:205763888 [GRCh38]
Chr2:206628612 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1026C>T (p.Ile342=) |
single nucleotide variant |
NRP2-related disorder [RCV004750066] |
Chr2:205727926 [GRCh38]
Chr2:206592650 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9468G>T |
single nucleotide variant |
NRP2-related disorder [RCV004750032] |
Chr2:205776271 [GRCh38]
Chr2:206640995 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1935T>C (p.Asn645=) |
single nucleotide variant |
NRP2-related disorder [RCV004750104] |
Chr2:205752866 [GRCh38]
Chr2:206617590 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1810C>G (p.Leu604Val) |
single nucleotide variant |
NRP2-related disorder [RCV004748135] |
Chr2:205749748 [GRCh38]
Chr2:206614472 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2595C>A (p.Ile865=) |
single nucleotide variant |
NRP2-related disorder [RCV004748210] |
Chr2:205794872 [GRCh38]
Chr2:206659596 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9532G>A |
single nucleotide variant |
NRP2-related disorder [RCV004748267] |
Chr2:205776335 [GRCh38]
Chr2:206641059 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2595C>T (p.Ile865=) |
single nucleotide variant |
NRP2-related disorder [RCV004750121] |
Chr2:205794872 [GRCh38]
Chr2:206659596 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1252A>G (p.Ile418Val) |
single nucleotide variant |
NRP2-related disorder [RCV004750515] |
Chr2:205740624 [GRCh38]
Chr2:206605348 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2312T>C (p.Val771Ala) |
single nucleotide variant |
NRP2-related disorder [RCV004748369] |
Chr2:205765478 [GRCh38]
Chr2:206630202 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.189del (p.Glu63fs) |
deletion |
NRP2-related disorder [RCV004726598] |
Chr2:205697658 [GRCh38]
Chr2:206562382 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1787-3C>T |
single nucleotide variant |
NRP2-related disorder [RCV004749023] |
Chr2:205749722 [GRCh38]
Chr2:206614446 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.527C>T (p.Thr176Ile) |
single nucleotide variant |
NRP2-related disorder [RCV004749132] |
Chr2:205722571 [GRCh38]
Chr2:206587295 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.138C>G (p.Pro46=) |
single nucleotide variant |
NRP2-related disorder [RCV004749321] |
Chr2:205697608 [GRCh38]
Chr2:206562332 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9440del |
deletion |
NRP2-related disorder [RCV004749413] |
Chr2:205776242 [GRCh38]
Chr2:206640966 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1574A>G (p.Lys525Arg) |
single nucleotide variant |
NRP2-related disorder [RCV004727947] |
Chr2:205743485 [GRCh38]
Chr2:206608209 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9434C>T |
single nucleotide variant |
NRP2-related disorder [RCV004749420] |
Chr2:205776237 [GRCh38]
Chr2:206640961 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1691A>G (p.Asp564Gly) |
single nucleotide variant |
NRP2-related disorder [RCV004749462] |
Chr2:205745795 [GRCh38]
Chr2:206610519 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
NRP2-related disorder [RCV004750077] |
Chr2:205726021 [GRCh38]
Chr2:206590745 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1770G>A (p.Leu590=) |
single nucleotide variant |
NRP2-related disorder [RCV004750136] |
Chr2:205745874 [GRCh38]
Chr2:206610598 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2532C>T (p.Ala844=) |
single nucleotide variant |
NRP2-related disorder [RCV004728214] |
Chr2:205794809 [GRCh38]
Chr2:206659533 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.484T>A (p.Ser162Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004728311] |
Chr2:205722528 [GRCh38]
Chr2:206587252 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2486A>C (p.Glu829Ala) |
single nucleotide variant |
NRP2-related disorder [RCV004724657] |
Chr2:205794763 [GRCh38]
Chr2:206659487 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.847A>G (p.Met283Val) |
single nucleotide variant |
NRP2-related disorder [RCV004730174] |
Chr2:205725939 [GRCh38]
Chr2:206590663 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2405-2A>G |
single nucleotide variant |
NRP2-related disorder [RCV004748016] |
Chr2:205766781 [GRCh38]
Chr2:206631505 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.280G>C (p.Asp94His) |
single nucleotide variant |
NRP2-related disorder [RCV004728629] |
Chr2:205716221 [GRCh38]
Chr2:206580945 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2029G>A (p.Asp677Asn) |
single nucleotide variant |
NRP2-related disorder [RCV004748993] |
Chr2:205752960 [GRCh38]
Chr2:206617684 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.60G>A (p.Val20=) |
single nucleotide variant |
NRP2-related disorder [RCV004749087] |
Chr2:205683350 [GRCh38]
Chr2:206548074 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.330G>A (p.Pro110=) |
single nucleotide variant |
NRP2-related disorder [RCV004749168] |
Chr2:205716271 [GRCh38]
Chr2:206580995 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2716G>A (p.Glu906Lys) |
single nucleotide variant |
NRP2-related disorder [RCV004749213] |
Chr2:205794993 [GRCh38]
Chr2:206659717 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.990G>C (p.Gln330His) |
single nucleotide variant |
NRP2-related disorder [RCV004749261] |
Chr2:205726082 [GRCh38]
Chr2:206590806 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1421G>T (p.Trp474Leu) |
single nucleotide variant |
NRP2-related disorder [RCV004749439] |
Chr2:205743332 [GRCh38]
Chr2:206608056 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.665-8A>T |
single nucleotide variant |
NRP2-related disorder [RCV004750087] |
Chr2:205723777 [GRCh38]
Chr2:206588501 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2757C>T (p.His919=) |
single nucleotide variant |
NRP2-related disorder [RCV004750639] |
Chr2:205795034 [GRCh38]
Chr2:206659758 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.434-4A>G |
single nucleotide variant |
NRP2-related disorder [RCV004750599] |
Chr2:205722474 [GRCh38]
Chr2:206587198 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1879G>C (p.Gly627Arg) |
single nucleotide variant |
NRP2-related disorder [RCV004748185] |
Chr2:205749817 [GRCh38]
Chr2:206614541 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.433+8T>G |
single nucleotide variant |
NRP2-related disorder [RCV004748179] |
Chr2:205716382 [GRCh38]
Chr2:206581106 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1736C>T (p.Ser579Leu) |
single nucleotide variant |
NRP2-related disorder [RCV004748312] |
Chr2:205745840 [GRCh38]
Chr2:206610564 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1353C>T (p.Ser451=) |
single nucleotide variant |
NRP2-related disorder [RCV004748329] |
Chr2:205743264 [GRCh38]
Chr2:206607988 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2369G>A (p.Arg790Gln) |
single nucleotide variant |
NRP2-related disorder [RCV004748377] |
Chr2:205765535 [GRCh38]
Chr2:206630259 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.471C>T (p.Asn157=) |
single nucleotide variant |
NRP2-related disorder [RCV004748385] |
Chr2:205722515 [GRCh38]
Chr2:206587239 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2643C>G (p.Leu881=) |
single nucleotide variant |
NRP2-related disorder [RCV004729762] |
Chr2:205794920 [GRCh38]
Chr2:206659644 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1291+6G>A |
single nucleotide variant |
NRP2-related disorder [RCV004749093] |
Chr2:205740669 [GRCh38]
Chr2:206605393 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2278A>G (p.Ile760Val) |
single nucleotide variant |
NRP2-related disorder [RCV004749466] |
Chr2:205763907 [GRCh38]
Chr2:206628631 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2442A>G (p.Ile814Met) |
single nucleotide variant |
NRP2-related disorder [RCV004750054] |
Chr2:205792251 [GRCh38]
Chr2:206656975 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2174G>A (p.Gly725Asp) |
single nucleotide variant |
NRP2-related disorder [RCV004750062] |
Chr2:205763803 [GRCh38]
Chr2:206628527 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1254C>T (p.Ile418=) |
single nucleotide variant |
NRP2-related disorder [RCV004750074] |
Chr2:205740626 [GRCh38]
Chr2:206605350 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.243C>T (p.His81=) |
single nucleotide variant |
NRP2-related disorder [RCV004750078] |
Chr2:205697713 [GRCh38]
Chr2:206562437 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1406G>A (p.Ser469Asn) |
single nucleotide variant |
NRP2-related disorder [RCV004750097] |
Chr2:205743317 [GRCh38]
Chr2:206608041 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1913T>C (p.Leu638Ser) |
single nucleotide variant |
NRP2-related disorder [RCV004750101] |
Chr2:205752844 [GRCh38]
Chr2:206617568 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2330G>T (p.Gly777Val) |
single nucleotide variant |
NRP2-related disorder [RCV004750102] |
Chr2:205765496 [GRCh38]
Chr2:206630220 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2343C>T (p.Ser781=) |
single nucleotide variant |
NRP2-related disorder [RCV004750127] |
Chr2:205765509 [GRCh38]
Chr2:206630233 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2692A>G (p.Thr898Ala) |
single nucleotide variant |
NRP2-related disorder [RCV004750150] |
Chr2:205794969 [GRCh38]
Chr2:206659693 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.265G>T (p.Glu89Ter) |
single nucleotide variant |
NRP2-related disorder [RCV004750506] |
Chr2:205716206 [GRCh38]
Chr2:206580930 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2645T>C (p.Leu882Pro) |
single nucleotide variant |
NRP2-related disorder [RCV004730179] |
Chr2:205794922 [GRCh38]
Chr2:206659646 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.585C>T (p.Asp195=) |
single nucleotide variant |
NRP2-related disorder [RCV004750572] |
Chr2:205722629 [GRCh38]
Chr2:206587353 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9671T>C |
single nucleotide variant |
NRP2-related disorder [RCV004750645] |
Chr2:205776474 [GRCh38]
Chr2:206641198 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2471T>C (p.Ile824Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004750670] |
Chr2:205792280 [GRCh38]
Chr2:206657004 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1920C>T (p.Leu640=) |
single nucleotide variant |
NRP2-related disorder [RCV004750587] |
Chr2:205752851 [GRCh38]
Chr2:206617575 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.601T>C (p.Leu201=) |
single nucleotide variant |
NRP2-related disorder [RCV004750661] |
Chr2:205722645 [GRCh38]
Chr2:206587369 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2414C>T (p.Ser805Leu) |
single nucleotide variant |
NRP2-related disorder [RCV004724339] |
Chr2:205766792 [GRCh38]
Chr2:206631516 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.137C>G (p.Pro46Arg) |
single nucleotide variant |
NRP2-related disorder [RCV004730002] |
Chr2:205697607 [GRCh38]
Chr2:206562331 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.835G>A (p.Val279Ile) |
single nucleotide variant |
NRP2-related disorder [RCV004748167] |
Chr2:205725927 [GRCh38]
Chr2:206590651 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9639C>A |
single nucleotide variant |
NRP2-related disorder [RCV004748168] |
Chr2:205776442 [GRCh38]
Chr2:206641166 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2596G>A (p.Ala866Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004748186] |
Chr2:205794873 [GRCh38]
Chr2:206659597 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1613T>C (p.Ile538Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004748170]|not specified [RCV004837942] |
Chr2:205743524 [GRCh38]
Chr2:206608248 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.408T>C (p.Ser136=) |
single nucleotide variant |
NRP2-related disorder [RCV004748984] |
Chr2:205716349 [GRCh38]
Chr2:206581073 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9726G>A |
single nucleotide variant |
NRP2-related disorder [RCV004749133] |
Chr2:205776529 [GRCh38]
Chr2:206641253 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1926G>A (p.Ser642=) |
single nucleotide variant |
NRP2-related disorder [RCV004749179] |
Chr2:205752857 [GRCh38]
Chr2:206617581 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1903G>A (p.Asp635Asn) |
single nucleotide variant |
NRP2-related disorder [RCV004749203] |
Chr2:205749841 [GRCh38]
Chr2:206614565 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2279T>C (p.Ile760Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004749286] |
Chr2:205763908 [GRCh38]
Chr2:206628632 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1248A>G (p.Ser416=) |
single nucleotide variant |
NRP2-related disorder [RCV004749353] |
Chr2:205740620 [GRCh38]
Chr2:206605344 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.*3G>T |
single nucleotide variant |
NRP2-related disorder [RCV004749444] |
Chr2:205795061 [GRCh38]
Chr2:206659785 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2116C>A (p.Pro706Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004750041] |
Chr2:205763745 [GRCh38]
Chr2:206628469 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9557C>G |
single nucleotide variant |
NRP2-related disorder [RCV004750011] |
Chr2:205776360 [GRCh38]
Chr2:206641084 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9609G>A |
single nucleotide variant |
NRP2-related disorder [RCV004750132] |
Chr2:205776412 [GRCh38]
Chr2:206641136 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.702A>G (p.Thr234=) |
single nucleotide variant |
NRP2-related disorder [RCV004750530] |
Chr2:205723822 [GRCh38]
Chr2:206588546 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2523G>A (p.Gly841=) |
single nucleotide variant |
NRP2-related disorder [RCV004750606] |
Chr2:205794800 [GRCh38]
Chr2:206659524 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1708T>C (p.Tyr570His) |
single nucleotide variant |
NRP2-related disorder [RCV004750586] |
Chr2:205745812 [GRCh38]
Chr2:206610536 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2533C>G (p.Pro845Ala) |
single nucleotide variant |
NRP2-related disorder [RCV004750678] |
Chr2:205794810 [GRCh38]
Chr2:206659534 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1292-4G>A |
single nucleotide variant |
NRP2-related disorder [RCV004750681] |
Chr2:205743199 [GRCh38]
Chr2:206607923 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.753G>A (p.Thr251=) |
single nucleotide variant |
NRP2-related disorder [RCV004727928] |
Chr2:205723873 [GRCh38]
Chr2:206588597 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9620A>G |
single nucleotide variant |
NRP2-related disorder [RCV004748032] |
Chr2:205776423 [GRCh38]
Chr2:206641147 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1673_1674delinsTG (p.Pro558Leu) |
indel |
NRP2-related disorder [RCV004748087] |
Chr2:205745777..205745778 [GRCh38]
Chr2:206610501..206610502 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2036C>T (p.Thr679Met) |
single nucleotide variant |
NRP2-related disorder [RCV004748155] |
Chr2:205752967 [GRCh38]
Chr2:206617691 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2045-17_2045-8del |
deletion |
NRP2-related disorder [RCV004749003] |
Chr2:205763652..205763661 [GRCh38]
Chr2:206628376..206628385 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2425+9651C>A |
single nucleotide variant |
NRP2-related disorder [RCV004749122] |
Chr2:205776454 [GRCh38]
Chr2:206641178 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.990+4C>G |
single nucleotide variant |
NRP2-related disorder [RCV004749143] |
Chr2:205726086 [GRCh38]
Chr2:206590810 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1433T>C (p.Ile478Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004749224] |
Chr2:205743344 [GRCh38]
Chr2:206608068 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2142G>A (p.Val714=) |
single nucleotide variant |
NRP2-related disorder [RCV004749318] |
Chr2:205763771 [GRCh38]
Chr2:206628495 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1059G>A (p.Gln353=) |
single nucleotide variant |
NRP2-related disorder [RCV004749323] |
Chr2:205727959 [GRCh38]
Chr2:206592683 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1954G>A (p.Glu652Lys) |
single nucleotide variant |
NRP2-related disorder [RCV004750100] |
Chr2:205752885 [GRCh38]
Chr2:206617609 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2515A>G (p.Thr839Ala) |
single nucleotide variant |
NRP2-related disorder [RCV004750115] |
Chr2:205794792 [GRCh38]
Chr2:206659516 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1255G>A (p.Ala419Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004750116] |
Chr2:205740627 [GRCh38]
Chr2:206605351 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1835A>G (p.Glu612Gly) |
single nucleotide variant |
NRP2-related disorder [RCV004750500] |
Chr2:205749773 [GRCh38]
Chr2:206614497 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9690T>G |
single nucleotide variant |
NRP2-related disorder [RCV004750610] |
Chr2:205776493 [GRCh38]
Chr2:206641217 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1010C>T (p.Thr337Ile) |
single nucleotide variant |
NRP2-related disorder [RCV004750652] |
Chr2:205727910 [GRCh38]
Chr2:206592634 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1794G>C (p.Lys598Asn) |
single nucleotide variant |
NRP2-related disorder [RCV004727874] |
Chr2:205749732 [GRCh38]
Chr2:206614456 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.181G>A (p.Ala61Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004728271] |
Chr2:205697651 [GRCh38]
Chr2:206562375 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1203A>G (p.Pro401=) |
single nucleotide variant |
NRP2-related disorder [RCV004748025] |
Chr2:205740575 [GRCh38]
Chr2:206605299 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.664+7G>A |
single nucleotide variant |
NRP2-related disorder [RCV004748137] |
Chr2:205722715 [GRCh38]
Chr2:206587439 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1858G>A (p.Glu620Lys) |
single nucleotide variant |
NRP2-related disorder [RCV004748096] |
Chr2:205749796 [GRCh38]
Chr2:206614520 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2317G>A (p.Glu773Lys) |
single nucleotide variant |
NRP2-related disorder [RCV004748099] |
Chr2:205765483 [GRCh38]
Chr2:206630207 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.73G>A (p.Asp25Asn) |
single nucleotide variant |
NRP2-related disorder [RCV004748148] |
Chr2:205683363 [GRCh38]
Chr2:206548087 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2172C>A (p.Gly724=) |
single nucleotide variant |
NRP2-related disorder [RCV004748248] |
Chr2:205763801 [GRCh38]
Chr2:206628525 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1594G>A (p.Gly532Ser) |
single nucleotide variant |
NRP2-related disorder [RCV004748252] |
Chr2:205743505 [GRCh38]
Chr2:206608229 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2272C>A (p.Arg758=) |
single nucleotide variant |
NRP2-related disorder [RCV004748241] |
Chr2:205763901 [GRCh38]
Chr2:206628625 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.786G>A (p.Ala262=) |
single nucleotide variant |
NRP2-related disorder [RCV004748326] |
Chr2:205723906 [GRCh38]
Chr2:206588630 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1828A>G (p.Ser610Gly) |
single nucleotide variant |
NRP2-related disorder [RCV004726578] |
Chr2:205749766 [GRCh38]
Chr2:206614490 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1905C>A (p.Asp635Glu) |
single nucleotide variant |
NRP2-related disorder [RCV004748478] |
Chr2:205752836 [GRCh38]
Chr2:206617560 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1052A>T (p.Glu351Val) |
single nucleotide variant |
NRP2-related disorder [RCV004748988] |
Chr2:205727952 [GRCh38]
Chr2:206592676 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.553A>T (p.Met185Leu) |
single nucleotide variant |
NRP2-related disorder [RCV004749061] |
Chr2:205722597 [GRCh38]
Chr2:206587321 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.81G>T (p.Pro27=) |
single nucleotide variant |
NRP2-related disorder [RCV004749004] |
Chr2:205697551 [GRCh38]
Chr2:206562275 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2271G>A (p.Gly757=) |
single nucleotide variant |
NRP2-related disorder [RCV004749148] |
Chr2:205763900 [GRCh38]
Chr2:206628624 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1000C>A (p.Arg334Ser) |
single nucleotide variant |
NRP2-related disorder [RCV004749159] |
Chr2:205727900 [GRCh38]
Chr2:206592624 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.84C>T (p.Cys28=) |
single nucleotide variant |
NRP2-related disorder [RCV004749192] |
Chr2:205697554 [GRCh38]
Chr2:206562278 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1276G>A (p.Gly426Ser) |
single nucleotide variant |
NRP2-related disorder [RCV004749228] |
Chr2:205740648 [GRCh38]
Chr2:206605372 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2497A>G (p.Ser833Gly) |
single nucleotide variant |
NRP2-related disorder [RCV004749283] |
Chr2:205794774 [GRCh38]
Chr2:206659498 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1903+5G>A |
single nucleotide variant |
NRP2-related disorder [RCV004749469] |
Chr2:205749846 [GRCh38]
Chr2:206614570 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.94T>C (p.Leu32=) |
single nucleotide variant |
NRP2-related disorder [RCV004749969] |
Chr2:205697564 [GRCh38]
Chr2:206562288 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1382G>C (p.Ser461Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004750001] |
Chr2:205743293 [GRCh38]
Chr2:206608017 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9654C>T |
single nucleotide variant |
NRP2-related disorder [RCV004750015] |
Chr2:205776457 [GRCh38]
Chr2:206641181 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1198G>A (p.Ala400Thr) |
single nucleotide variant |
NRP2-related disorder [RCV004750166] |
Chr2:205740570 [GRCh38]
Chr2:206605294 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.165C>T (p.Cys55=) |
single nucleotide variant |
NRP2-related disorder [RCV004750168] |
Chr2:205697635 [GRCh38]
Chr2:206562359 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.1560T>C (p.Phe520=) |
single nucleotide variant |
NRP2-related disorder [RCV004750513] |
Chr2:205743471 [GRCh38]
Chr2:206608195 [GRCh37]
Chr2:2q33.3 |
likely benign |
| NM_003872.3(NRP2):c.2633G>T (p.Cys878Phe) |
single nucleotide variant |
NRP2-related disorder [RCV004730127] |
Chr2:205794910 [GRCh38]
Chr2:206659634 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1799C>A (p.Thr600Lys) |
single nucleotide variant |
NRP2-related disorder [RCV004730176] |
Chr2:205749737 [GRCh38]
Chr2:206614461 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1888T>G (p.Cys630Gly) |
single nucleotide variant |
NRP2-related disorder [RCV004750549] |
Chr2:205749826 [GRCh38]
Chr2:206614550 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2425+9693G>C |
single nucleotide variant |
NRP2-related disorder [RCV004730186] |
Chr2:205776496 [GRCh38]
Chr2:206641220 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.4G>C (p.Asp2His) |
single nucleotide variant |
not specified [RCV004840395] |
Chr2:205683294 [GRCh38]
Chr2:206548018 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1847C>T (p.Pro616Leu) |
single nucleotide variant |
not specified [RCV004840387] |
Chr2:205749785 [GRCh38]
Chr2:206614509 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.80C>T (p.Pro27Leu) |
single nucleotide variant |
not specified [RCV004840393] |
Chr2:205697550 [GRCh38]
Chr2:206562274 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2089G>A (p.Gly697Ser) |
single nucleotide variant |
not specified [RCV004840394] |
Chr2:205763718 [GRCh38]
Chr2:206628442 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.2128C>T (p.Pro710Ser) |
single nucleotide variant |
not specified [RCV004840386] |
Chr2:205763757 [GRCh38]
Chr2:206628481 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1118T>C (p.Met373Thr) |
single nucleotide variant |
not specified [RCV004840390] |
Chr2:205728018 [GRCh38]
Chr2:206592742 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1945G>A (p.Asp649Asn) |
single nucleotide variant |
not specified [RCV004840388] |
Chr2:205752876 [GRCh38]
Chr2:206617600 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1647C>G (p.Phe549Leu) |
single nucleotide variant |
not specified [RCV004840389] |
Chr2:205745751 [GRCh38]
Chr2:206610475 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1700C>T (p.Pro567Leu) |
single nucleotide variant |
not specified [RCV004840391] |
Chr2:205745804 [GRCh38]
Chr2:206610528 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.1064G>A (p.Gly355Asp) |
single nucleotide variant |
not specified [RCV004840392] |
Chr2:205727964 [GRCh38]
Chr2:206592688 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| GRCh37/hg19 2q33.3(chr2:205221117-207450117)x1 |
copy number loss |
not provided [RCV004819739] |
Chr2:205221117..207450117 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
| NM_003872.3(NRP2):c.964T>A (p.Leu322Met) |
single nucleotide variant |
not specified [RCV004832554] |
Chr2:205726056 [GRCh38]
Chr2:206590780 [GRCh37]
Chr2:2q33.3 |
uncertain significance |
