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Items: 1 to 100 of 281

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LOC129931201, LOC129931202, LOC129931203, LOC129931204, LOC129931205, LOC129931206, LOC129931207, LOC129931208, LOC129931209, LOC129931210, LOC129931211, LOC129931212, LOC129931213, LOC129931214, LOC129931215, LOC129931216, LOC129931217, LOC129931218, LOC129931219, LOC129931220, LOC129931221, LOC129931222, LOC129931223, LOC129931224, LOC129931225, LOC129931226, LOC129931227, LOC129931228, LOC129931229, LOC129931230, LOC129931231, LOC129931232, LOC129931233, LOC129931234, LOC129931235, LOC129931236, LOC129931237, LOC129931238, LOC129931239, LOC129931240, LOC129931241, LOC129931242, LOC129931243, LOC129931244, LOC129931245, LOC129931246, LOC129931247, LOC129931248, LOC129931249, LOC129931250, LOC129931251, LOC129931252, LOC129931253, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR197, MIR320B1, MIR4256, MIR548AC, MIR7852, MIR942, MOV10, MYBPHL, NBPF4, NBPF6, NGF, NGF-AS1, NHLH2, NOTCH2, NRAS, NTNG1, OLFML3, OVGP1, PHGDH, PHTF1, PPM1J, PPM1J-DT, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, REG4, RHOC, RSBN1, SARS1, SCARNA2, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPAG17, SPATA42, ST7L, STRIP1, STXBP3, SYCP1, SYPL2, SYT6, TAF13, TAFA3, TBX15, TENT5C, TENT5C-DT, TMEM167B, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VAV3, VAV3-AS1, VTCN1, WARS2, WARS2-AS1, WARS2-IT1, WDR3, WDR47, WDR77, WNT2B, ZNF697, ADAM30, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD1, AMPD2, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, ATXN7L2, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSDE1, CSF1, CTTNBP2NL, CYB561D1, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GDAP2, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HAO2, HAO2-IT1, HENMT1, HIPK1, HIPK1-AS1, HMGCS2, HSD3B1, HSD3B2, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC00622, LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01661, LINC01676, LINC01677, LINC01750, LINC01762, LINC01780, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC105378933, LOC107161156, LOC107985184, LOC109029529, LOC109029530, LOC110121098, LOC110121184, LOC110121283, LOC110121285, LOC111365211, LOC111413047, LOC111721703, LOC111776218, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC121725050, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC122094909, LOC122094910, LOC122094911, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC126805846, LOC126805847, LOC126805848, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129388583, LOC129388584, LOC129388585, LOC129388586, LOC129388587, LOC129388588, LOC129388589, LOC129388590, LOC129388591, LOC129388592, LOC129388593, LOC129388594, LOC129388595, LOC129388596, LOC129388597, LOC129388598, LOC129388599, LOC129388600, LOC129931063
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:110299252-119192827
GRCh38:
Chr1:109756630-118650204
ADORA3, AHCYL1, ALX3, AMPD1, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CEPT1, CHI3L2, CHIA, CIMAP3, CSDE1, CSF1, CTTNBP2NL, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EPS8L3, GDAP2, HIPK1, HIPK1-AS1, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01750, LINC01762, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC107161156, LOC107985184, LOC110121098, LOC110121184, LOC111365211, LOC111413047, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129388583, LOC129388584, LOC129388585, LOC129388586, LOC129388587, LOC129388588, LOC129388589, LOC129388590, LOC129388591, LOC129388592, LOC129388593, LOC129388594, LOC129388595, LOC129388596, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LOC129931201, LOC129931202, LOC129931203, LOC129931204, LOC129931205, LOC129931206, LOC129931207, LOC129931208, LOC129931209, LOC129931210, LOC129931211, LOC129931212, LOC129931213, LOC129931214, LOC129931215, LOC129931216, LOC129931217, LOC129931218, LOC129931219, LOC129931220, LOC129931221, LOC129931222, LOC129931223, LOC129931224, LOC129931225, LOC129931226, LOC129931227, LOC129931228, LOC129931229, LOC129931230, LOC129931231, LOC129931232, LOC129931233, LOC129931234, LOC129931235, LOC129931236, LOC129931237, LOC129931238, LOC129931239, LOC129931240, LOC129931241, LOC129931242, LOC129931243, LOC129931244, LOC129931245, LOC129931246, LOC129931247, LOC129931248, LOC129931249, LOC129931250, LOC129931251, LOC129931252, LOC129931253, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR320B1, MIR4256, MIR548AC, MIR942, MOV10, NGF, NGF-AS1, NHLH2, NRAS, OLFML3, OVGP1, PHTF1, PPM1J, PPM1J-DT, PROK1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, RHOC, RSBN1, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC6A17, SLC6A17-AS1, SPAG17, ST7L, STRIP1, SYCP1, SYT6, TAFA3, TENT5C, TENT5C-DT, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VTCN1, WDR3, WDR77, WNT2B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr1:115041949-115469044
GRCh38:
Chr1:114499327-114926423
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr1:115247215
GRCh38:
Chr1:114704594
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr1:115247216
GRCh38:
Chr1:114704595
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr1:115247285
GRCh38:
Chr1:114704664
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:115247311
GRCh38:
Chr1:114704690
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr1:115247323
GRCh38:
Chr1:114704702
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:115247330
GRCh38:
Chr1:114704709
NRASnot providedBenign
(Sep 1, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:115247331
GRCh38:
Chr1:114704710
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr1:115247349
GRCh38:
Chr1:114704728
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr1:115247353
GRCh38:
Chr1:114704732
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr1:115247374
GRCh38:
Chr1:114704753
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr1:115247409
GRCh38:
Chr1:114704788
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:115247496
GRCh38:
Chr1:114704875
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:115247612
GRCh38:
Chr1:114704991
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr1:115247653
GRCh38:
Chr1:114705032
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr1:115247695
GRCh38:
Chr1:114705074
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr1:115247750
GRCh38:
Chr1:114705129
NRASNoonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:115247855
GRCh38:
Chr1:114705234
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr1:115247871
GRCh38:
Chr1:114705250
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr1:115247899
GRCh38:
Chr1:114705278
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr1:115247904
GRCh38:
Chr1:114705283
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr1:115247910
GRCh38:
Chr1:114705289
NRASnot provided, Noonan syndrome 6Conflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:115247931
GRCh38:
Chr1:114705310
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr1:115247948
GRCh38:
Chr1:114705327
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr1:115248001
GRCh38:
Chr1:114705380
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr1:115248038
GRCh38:
Chr1:114705417
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr1:115248048
GRCh38:
Chr1:114705427
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr1:115248053
GRCh38:
Chr1:114705432
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr1:115248085
GRCh38:
Chr1:114705464
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr1:115248097
GRCh38:
Chr1:114705476
NRASNoonan syndrome 6, not providedConflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:115248126
GRCh38:
Chr1:114705505
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr1:115248169
GRCh38:
Chr1:114705548
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr1:115248192
GRCh38:
Chr1:114705571
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr1:115248198
GRCh38:
Chr1:114705577
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr1:115248200-115248205
GRCh38:
Chr1:114705579-114705584
NRASNoonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr1:115248202
GRCh38:
Chr1:114705581
NRASnot provided, Noonan syndrome 6Conflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr1:115248251
GRCh38:
Chr1:114705630
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr1:115248303
GRCh38:
Chr1:114705682
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr1:115248387
GRCh38:
Chr1:114705766
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr1:115248388
GRCh38:
Chr1:114705767
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:115248489
GRCh38:
Chr1:114705868
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr1:115248493-115248494
GRCh38:
Chr1:114705872-114705873
NRASnot providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr1:115248527
GRCh38:
Chr1:114705906
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr1:115248537
GRCh38:
Chr1:114705916
NRASNoonan syndrome 6Uncertain significance
(Jun 20, 2020)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:115248741
GRCh38:
Chr1:114706120
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr1:115248779
GRCh38:
Chr1:114706158
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr1:115248801
GRCh38:
Chr1:114706180
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:115248828
GRCh38:
Chr1:114706207
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr1:115248870
GRCh38:
Chr1:114706249
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr1:115249059
GRCh38:
Chr1:114706438
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr1:115249072
GRCh38:
Chr1:114706451
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr1:115249086
GRCh38:
Chr1:114706465
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr1:115249144
GRCh38:
Chr1:114706523
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr1:115249206
GRCh38:
Chr1:114706585
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr1:115249249
GRCh38:
Chr1:114706628
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr1:115249333
GRCh38:
Chr1:114706712
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr1:115249610
GRCh38:
Chr1:114706989
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr1:115249652-115249653
GRCh38:
Chr1:114707031-114707032
NRASNoonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:115249779-115249780
GRCh38:
Chr1:114707158-114707159
NRASNoonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr1:115249843
GRCh38:
Chr1:114707222
NRASNoonan syndrome 6Benign
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:115249941
GRCh38:
Chr1:114707320
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr1:115249975
GRCh38:
Chr1:114707354
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr1:115250028
GRCh38:
Chr1:114707407
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr1:115250064
GRCh38:
Chr1:114707443
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr1:115250132
GRCh38:
Chr1:114707511
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr1:115250179
GRCh38:
Chr1:114707558
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr1:115250299
GRCh38:
Chr1:114707678
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr1:115250369
GRCh38:
Chr1:114707748
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr1:115250371
GRCh38:
Chr1:114707750
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr1:115250375
GRCh38:
Chr1:114707754
NRASNoonan syndrome 6Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr1:115250604
GRCh38:
Chr1:114707983
NRASnot provided, Noonan syndrome 6Conflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr1:115250755
GRCh38:
Chr1:114708134
NRASnot providedLikely benign
(Dec 29, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr1:115250813
GRCh38:
Chr1:114708192
NRASnot specifiedLikely benign
(Dec 31, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr1:115251151-115251187
GRCh38:
Chr1:114708530-114708566
NRASRASopathyUncertain significance
(Aug 20, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr1:115251161
GRCh38:
Chr1:114708540
NRASM189Vnot providedUncertain significance
(Jul 6, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr1:115251162
GRCh38:
Chr1:114708541
NRASCardiovascular phenotype, RASopathyLikely benign
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:115251164
GRCh38:
Chr1:114708543
NRASV188LRASopathyUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:115251164
GRCh38:
Chr1:114708543
NRASV188Mnot providedUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr1:115251165
GRCh38:
Chr1:114708544
NRASRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr1:115251172
GRCh38:
Chr1:114708551
NRASP185Lnot providedUncertain significance
(Aug 20, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr1:115251173
GRCh38:
Chr1:114708552
NRASP185Snot specified, RASopathy, Noonan syndrome 6
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr1:115251182
GRCh38:
Chr1:114708561
NRASM182LRASopathyUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:115251184
GRCh38:
Chr1:114708563
NRASC181Fnot providedUncertain significance
(Aug 7, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr1:115251195
GRCh38:
Chr1:114708574
NRASRASopathyLikely benign
(Feb 18, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr1:115251196-115251197
GRCh38:
Chr1:114708575-114708576
NRASRASopathyUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:115251201
GRCh38:
Chr1:114708580
NRASnot providedLikely benign
(Dec 29, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr1:115251207
GRCh38:
Chr1:114708586
NRASRASopathyLikely benign
(Jul 13, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:115251222
GRCh38:
Chr1:114708601
NRASM168Inot providedUncertain significance
(Aug 30, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr1:115251223
GRCh38:
Chr1:114708602
NRASM168Knot specifiedUncertain significance
(Feb 8, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr1:115251227
GRCh38:
Chr1:114708606
NRASR167*RASopathyUncertain significance
(Aug 19, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:115251236
GRCh38:
Chr1:114708615
NRASR164CNeurodevelopmental disorder, RASopathyConflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr1:115251248
GRCh38:
Chr1:114708627
NRASV160IRASopathy, not providedUncertain significance
(Nov 27, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:115251261
GRCh38:
Chr1:114708640
NRASRASopathyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:115251262
GRCh38:
Chr1:114708641
NRASA155Vnot provided, RASopathyUncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:115251265
GRCh38:
Chr1:114708644
NRASD154GRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr1:115251269
GRCh38:
Chr1:114708648
NRASE153KNoonan syndromeUncertain significanceno assertion criteria provided
99.
GRCh37:
Chr1:115251272
GRCh38:
Chr1:114708651
NRASV152FRASopathyUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:115251285
GRCh38:
Chr1:114708664
NRASRASopathyLikely benign
(Jul 23, 2022)
criteria provided, single submitter
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