4893[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 277

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548861.	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 GRCh37: Chr1:104868106-120471049 GRCh38: Chr1:104325484-119977655	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, LINC01779, 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, 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		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 580842.	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 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, LINC01779, 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, 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1502743.	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1 GRCh37: Chr1:115041949-115469044 GRCh38: Chr1:114499327-114926423	AMPD1, BCAS2, CSDE1, DENND2C, LOC126805834, NRAS, SIKE1, SYCP1, TRIM33		See cases	Uncertain significance (Sep 21, 2012)	no assertion criteria provided
Select item 8761414.	NM_002524.5(NRAS):c.*3500G>A GRCh37: Chr1:115247215 GRCh38: Chr1:114704594	NRAS		Noonan syndrome 6	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 2919395.	NM_002524.5(NRAS):c.*3499C>T GRCh37: Chr1:115247216 GRCh38: Chr1:114704595	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8761426.	NM_002524.5(NRAS):c.*3430T>A GRCh37: Chr1:115247285 GRCh38: Chr1:114704664	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 2919407.	NM_002524.5(NRAS):c.*3404T>C GRCh37: Chr1:115247311 GRCh38: Chr1:114704690	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 2919418.	NM_002524.5(NRAS):c.*3392T>C GRCh37: Chr1:115247323 GRCh38: Chr1:114704702	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 2919429.	NM_002524.5(NRAS):c.*3384C>T GRCh37: Chr1:115247331 GRCh38: Chr1:114704710	NRAS		Noonan syndrome 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29194310.	NM_002524.5(NRAS):c.*3366G>T GRCh37: Chr1:115247349 GRCh38: Chr1:114704728	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87627911.	NM_002524.5(NRAS):c.*3362T>C GRCh37: Chr1:115247353 GRCh38: Chr1:114704732	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87628012.	NM_002524.5(NRAS):c.*3341A>T GRCh37: Chr1:115247374 GRCh38: Chr1:114704753	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87628113.	NM_002524.5(NRAS):c.*3306A>G GRCh37: Chr1:115247409 GRCh38: Chr1:114704788	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29194414.	NM_002524.5(NRAS):c.*3219C>G GRCh37: Chr1:115247496 GRCh38: Chr1:114704875	NRAS		Noonan syndrome 6	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87628215.	NM_002524.5(NRAS):c.*3103G>T GRCh37: Chr1:115247612 GRCh38: Chr1:114704991	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29194516.	NM_002524.5(NRAS):c.*3062C>T GRCh37: Chr1:115247653 GRCh38: Chr1:114705032	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87628317.	NM_002524.5(NRAS):c.*3020A>G GRCh37: Chr1:115247695 GRCh38: Chr1:114705074	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29194618.	NM_002524.5(NRAS):c.*2965del GRCh37: Chr1:115247750 GRCh38: Chr1:114705129	NRAS		Noonan syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29194719.	NM_002524.5(NRAS):c.*2860G>A GRCh37: Chr1:115247855 GRCh38: Chr1:114705234	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29194820.	NM_002524.5(NRAS):c.*2844T>A GRCh37: Chr1:115247871 GRCh38: Chr1:114705250	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87429421.	NM_002524.5(NRAS):c.*2816T>C GRCh37: Chr1:115247899 GRCh38: Chr1:114705278	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87429522.	NM_002524.5(NRAS):c.*2811C>A GRCh37: Chr1:115247904 GRCh38: Chr1:114705283	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29194923.	NM_002524.5(NRAS):c.*2805T>C GRCh37: Chr1:115247910 GRCh38: Chr1:114705289	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29195024.	NM_002524.5(NRAS):c.*2784T>A GRCh37: Chr1:115247931 GRCh38: Chr1:114705310	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87429625.	NM_002524.5(NRAS):c.*2767C>T GRCh37: Chr1:115247948 GRCh38: Chr1:114705327	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29195126.	NM_002524.5(NRAS):c.*2714G>T GRCh37: Chr1:115248001 GRCh38: Chr1:114705380	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29195227.	NM_002524.5(NRAS):c.*2677A>T GRCh37: Chr1:115248038 GRCh38: Chr1:114705417	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29195328.	NM_002524.5(NRAS):c.*2667T>C GRCh37: Chr1:115248048 GRCh38: Chr1:114705427	NRAS		Noonan syndrome 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29195429.	NM_002524.5(NRAS):c.*2662G>A GRCh37: Chr1:115248053 GRCh38: Chr1:114705432	NRAS		Noonan syndrome 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29195530.	NM_002524.5(NRAS):c.*2630G>A GRCh37: Chr1:115248085 GRCh38: Chr1:114705464	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87522731.	NM_002524.5(NRAS):c.*2618A>G GRCh37: Chr1:115248097 GRCh38: Chr1:114705476	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87522832.	NM_002524.5(NRAS):c.*2589G>A GRCh37: Chr1:115248126 GRCh38: Chr1:114705505	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29195633.	NM_002524.5(NRAS):c.*2546C>T GRCh37: Chr1:115248169 GRCh38: Chr1:114705548	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87522934.	NM_002524.5(NRAS):c.*2523A>G GRCh37: Chr1:115248192 GRCh38: Chr1:114705571	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87618635.	NM_002524.5(NRAS):c.*2517A>G GRCh37: Chr1:115248198 GRCh38: Chr1:114705577	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29195736.	NM_002524.5(NRAS):c.2510_2515del GRCh37: Chr1:115248200-115248205 GRCh38: Chr1:114705579-114705584	NRAS		Noonan syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29195837.	NM_002524.5(NRAS):c.*2513T>A GRCh37: Chr1:115248202 GRCh38: Chr1:114705581	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29195938.	NM_002524.5(NRAS):c.*2464A>G GRCh37: Chr1:115248251 GRCh38: Chr1:114705630	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87618739.	NM_002524.5(NRAS):c.*2412G>A GRCh37: Chr1:115248303 GRCh38: Chr1:114705682	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87618840.	NM_002524.5(NRAS):c.*2328G>A GRCh37: Chr1:115248387 GRCh38: Chr1:114705766	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29196041.	NM_002524.5(NRAS):c.*2327C>T GRCh37: Chr1:115248388 GRCh38: Chr1:114705767	NRAS		Noonan syndrome 6	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87618942.	NM_002524.5(NRAS):c.*2226G>C GRCh37: Chr1:115248489 GRCh38: Chr1:114705868	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87619043.	NM_002524.5(NRAS):c.*2188C>A GRCh37: Chr1:115248527 GRCh38: Chr1:114705906	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29196144.	NM_002524.5(NRAS):c.*2178G>A GRCh37: Chr1:115248537 GRCh38: Chr1:114705916	NRAS		Noonan syndrome 6	Uncertain significance (Jun 20, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87632745.	NM_002524.5(NRAS):c.*1974T>C GRCh37: Chr1:115248741 GRCh38: Chr1:114706120	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87632846.	NM_002524.5(NRAS):c.*1936C>G GRCh37: Chr1:115248779 GRCh38: Chr1:114706158	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87632947.	NM_002524.5(NRAS):c.*1914A>G GRCh37: Chr1:115248801 GRCh38: Chr1:114706180	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87633048.	NM_002524.5(NRAS):c.*1887T>C GRCh37: Chr1:115248828 GRCh38: Chr1:114706207	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87633149.	NM_002524.5(NRAS):c.*1845T>C GRCh37: Chr1:115248870 GRCh38: Chr1:114706249	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29196250.	NM_002524.5(NRAS):c.*1656C>T GRCh37: Chr1:115249059 GRCh38: Chr1:114706438	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29196351.	NM_002524.5(NRAS):c.*1643G>C GRCh37: Chr1:115249072 GRCh38: Chr1:114706451	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87435652.	NM_002524.5(NRAS):c.*1629C>G GRCh37: Chr1:115249086 GRCh38: Chr1:114706465	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87435753.	NM_002524.5(NRAS):c.*1571A>G GRCh37: Chr1:115249144 GRCh38: Chr1:114706523	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87435854.	NM_002524.5(NRAS):c.*1509A>G GRCh37: Chr1:115249206 GRCh38: Chr1:114706585	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87435955.	NM_002524.5(NRAS):c.*1466A>T GRCh37: Chr1:115249249 GRCh38: Chr1:114706628	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29196456.	NM_002524.5(NRAS):c.*1382G>T GRCh37: Chr1:115249333 GRCh38: Chr1:114706712	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87436057.	NM_002524.5(NRAS):c.*1105C>T GRCh37: Chr1:115249610 GRCh38: Chr1:114706989	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29196558.	NM_002524.5(NRAS):c.1062_1063del GRCh37: Chr1:115249652-115249653 GRCh38: Chr1:114707031-114707032	NRAS		Noonan syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29196659.	NM_002524.5(NRAS):c.*935dup GRCh37: Chr1:115249779-115249780 GRCh38: Chr1:114707158-114707159	NRAS		Noonan syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29196760.	NM_002524.5(NRAS):c.*872C>T GRCh37: Chr1:115249843 GRCh38: Chr1:114707222	NRAS		Noonan syndrome 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29196861.	NM_002524.5(NRAS):c.*774A>G GRCh37: Chr1:115249941 GRCh38: Chr1:114707320	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29196962.	NM_002524.5(NRAS):c.*740G>A GRCh37: Chr1:115249975 GRCh38: Chr1:114707354	NRAS		Noonan syndrome 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87527963.	NM_002524.5(NRAS):c.*687A>G GRCh37: Chr1:115250028 GRCh38: Chr1:114707407	NRAS		Noonan syndrome 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87528064.	NM_002524.5(NRAS):c.*651C>T GRCh37: Chr1:115250064 GRCh38: Chr1:114707443	NRAS		Noonan syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29197065.	NM_002524.5(NRAS):c.*583T>G GRCh37: Chr1:115250132 GRCh38: Chr1:114707511	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29197166.	NM_002524.5(NRAS):c.*536C>T GRCh37: Chr1:115250179 GRCh38: Chr1:114707558	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29197267.	NM_002524.5(NRAS):c.*416A>C GRCh37: Chr1:115250299 GRCh38: Chr1:114707678	NRAS		Noonan syndrome 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29197368.	NM_002524.5(NRAS):c.*346G>A GRCh37: Chr1:115250369 GRCh38: Chr1:114707748	NRAS		Noonan syndrome 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29197469.	NM_002524.5(NRAS):c.*344A>G GRCh37: Chr1:115250371 GRCh38: Chr1:114707750	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87623970.	NM_002524.5(NRAS):c.*340G>A GRCh37: Chr1:115250375 GRCh38: Chr1:114707754	NRAS		Noonan syndrome 6	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 29197571.	NM_002524.5(NRAS):c.*111A>G GRCh37: Chr1:115250604 GRCh38: Chr1:114707983	NRAS		Noonan syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 38190372.	NM_002524.5(NRAS):c.43+20G>A GRCh37: Chr1:115250755 GRCh38: Chr1:114708134	NRAS		not provided	Likely benign (Dec 29, 2016)	criteria provided, single submitter
Select item 37827973.	NM_002524.5(NRAS):c.*5A>G GRCh37: Chr1:115250813 GRCh38: Chr1:114708192	NRAS		not specified	Likely benign (Dec 31, 2015)	criteria provided, single submitter
Select item 101063774.	NM_002524.5(NRAS):c.539_*4+1del GRCh37: Chr1:115251151-115251187 GRCh38: Chr1:114708530-114708566	NRAS		RASopathy	Uncertain significance (Aug 20, 2020)	criteria provided, single submitter
Select item 56135475.	NM_002524.5(NRAS):c.565A>G (p.Met189Val) GRCh37: Chr1:115251161 GRCh38: Chr1:114708540	NRAS	M189V	not provided	Uncertain significance (Jul 6, 2018)	criteria provided, single submitter
Select item 174885776.	NM_002524.5(NRAS):c.564G>C (p.Val188=) GRCh37: Chr1:115251162 GRCh38: Chr1:114708541	NRAS		Cardiovascular phenotype, RASopathy	Likely benign (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134974877.	NM_002524.5(NRAS):c.562G>T (p.Val188Leu) GRCh37: Chr1:115251164 GRCh38: Chr1:114708543	NRAS	V188L	RASopathy	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 18071778.	NM_002524.5(NRAS):c.562G>A (p.Val188Met) GRCh37: Chr1:115251164 GRCh38: Chr1:114708543	NRAS	V188M	not provided	Uncertain significance (Jan 15, 2015)	no assertion criteria provided
Select item 64473379.	NM_002524.5(NRAS):c.561G>A (p.Val187=) GRCh37: Chr1:115251165 GRCh38: Chr1:114708544	NRAS		RASopathy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 131315880.	NM_002524.5(NRAS):c.554C>T (p.Pro185Leu) GRCh37: Chr1:115251172 GRCh38: Chr1:114708551	NRAS	P185L	not provided	Uncertain significance (Aug 20, 2020)	criteria provided, single submitter
Select item 17902581.	NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) GRCh37: Chr1:115251173 GRCh38: Chr1:114708552	NRAS	P185S	not specified, RASopathy, Noonan syndrome 6	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 213110082.	NM_002524.5(NRAS):c.544A>T (p.Met182Leu) GRCh37: Chr1:115251182 GRCh38: Chr1:114708561	NRAS	M182L	RASopathy	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 130768083.	NM_002524.5(NRAS):c.542G>T (p.Cys181Phe) GRCh37: Chr1:115251184 GRCh38: Chr1:114708563	NRAS	C181F	not provided	Uncertain significance (Aug 7, 2019)	criteria provided, single submitter
Select item 109077884.	NM_002524.5(NRAS):c.531G>A (p.Gly177=) GRCh37: Chr1:115251195 GRCh38: Chr1:114708574	NRAS		RASopathy	Likely benign (Feb 18, 2019)	criteria provided, single submitter
Select item 193716985.	NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp) GRCh37: Chr1:115251196-115251197 GRCh38: Chr1:114708575-114708576	NRAS		RASopathy	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 39220486.	NM_002524.5(NRAS):c.525T>C (p.Asp175=) GRCh37: Chr1:115251201 GRCh38: Chr1:114708580	NRAS		not provided	Likely benign (Dec 29, 2016)	criteria provided, single submitter
Select item 198594587.	NM_002524.5(NRAS):c.519C>T (p.Ser173=) GRCh37: Chr1:115251207 GRCh38: Chr1:114708586	NRAS		RASopathy	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 13499188.	NM_002524.5(NRAS):c.504G>C (p.Met168Ile) GRCh37: Chr1:115251222 GRCh38: Chr1:114708601	NRAS	M168I	not provided	Uncertain significance (Aug 30, 2017)	criteria provided, single submitter
Select item 99789789.	NM_002524.5(NRAS):c.503T>A (p.Met168Lys) GRCh37: Chr1:115251223 GRCh38: Chr1:114708602	NRAS	M168K	not specified	Uncertain significance (Feb 8, 2021)	criteria provided, single submitter
Select item 136110190.	NM_002524.5(NRAS):c.499C>T (p.Arg167Ter) GRCh37: Chr1:115251227 GRCh38: Chr1:114708606	NRAS	R167*	RASopathy	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 106481691.	NM_002524.5(NRAS):c.490C>T (p.Arg164Cys) GRCh37: Chr1:115251236 GRCh38: Chr1:114708615	NRAS	R164C	Neurodevelopmental disorder, RASopathy	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 135393192.	NM_002524.5(NRAS):c.478G>A (p.Val160Ile) GRCh37: Chr1:115251248 GRCh38: Chr1:114708627	NRAS	V160I	RASopathy, not provided	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158245893.	NM_002524.5(NRAS):c.465T>G (p.Ala155=) GRCh37: Chr1:115251261 GRCh38: Chr1:114708640	NRAS		RASopathy	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 45008194.	NM_002524.5(NRAS):c.464C>T (p.Ala155Val) GRCh37: Chr1:115251262 GRCh38: Chr1:114708641	NRAS	A155V	not provided, RASopathy	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47766595.	NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) GRCh37: Chr1:115251265 GRCh38: Chr1:114708644	NRAS	D154G	RASopathy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 98157396.	NM_002524.5(NRAS):c.457G>A (p.Glu153Lys) GRCh37: Chr1:115251269 GRCh38: Chr1:114708648	NRAS	E153K	Noonan syndrome	Uncertain significance	no assertion criteria provided
Select item 171907497.	NM_002524.5(NRAS):c.454G>T (p.Val152Phe) GRCh37: Chr1:115251272 GRCh38: Chr1:114708651	NRAS	V152F	RASopathy	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 161891898.	NM_002524.5(NRAS):c.451-10C>T GRCh37: Chr1:115251285 GRCh38: Chr1:114708664	NRAS		RASopathy	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 158338499.	NM_002524.5(NRAS):c.451-11T>C GRCh37: Chr1:115251286 GRCh38: Chr1:114708665	NRAS		RASopathy	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 1548420100.	NM_002524.5(NRAS):c.451-12T>C GRCh37: Chr1:115251287 GRCh38: Chr1:114708666	NRAS		RASopathy	Likely benign (Oct 9, 2021)	criteria provided, single submitter

<< First< Prev

Page of 3