ClinVar for MedGen (Select 1792298) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25803391.	GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3 GRCh37: Chr10:112021329-113054313	ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1		RASopathy	Uncertain significance (Jan 23, 2023)	criteria provided, single submitter
Select item 25038422.	NM_004985.5(KRAS):c.20T>A (p.Val7Glu) GRCh37: Chr12:25398299 GRCh38: Chr12:25245365	KRAS	V7E	RASopathy	Likely pathogenic (Apr 3, 2023)	criteria provided, single submitter
Select item 24280513.	NM_004333.6(BRAF):c.240+20A>G GRCh37: Chr7:140549891 GRCh38: Chr7:140850091	BRAF		RASopathy	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 24269404.	NC_000019.9:g.(?_4077097)_(4123872_?)dup GRCh37: Chr19:4077097-4123872	MAP2K2		RASopathy	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 24269395.	NC_000019.9:g.(?_4094110)_(4102471_?)dup GRCh37: Chr19:4094110-4102471	MAP2K2		RASopathy	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 24269386.	NC_000019.9:g.(?_4090596)_(4090726_?)dup GRCh37: Chr19:4090596-4090726	MAP2K2		RASopathy	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 24269377.	NC_000019.9:g.(?_4123761)_(4123872_?)del GRCh37: Chr19:4123761-4123872	MAP2K2		RASopathy	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 24253938.	NC_000002.11:g.(?_37334416)_(39347563_?)dup GRCh37: Chr2:37334416-39347563	ARHGEF33, ATL2, CDC42EP3, CEBPZ, CYP1B1, DHX57, EIF2AK2, GALM, GEMIN6, HNRNPLL, MORN2, NDUFAF7, PRKD3, QPCT, RMDN2, SOS1, SOS1-IT1, SRSF7, SULT6B1		RASopathy	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 24253929.	NC_000002.11:g.(?_39212965)_(39251298_?)dup GRCh37: Chr2:39212965-39251298	SOS1, SOS1-IT1		RASopathy	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 242531510.	NC_000011.9:g.(?_118967708)_(119103425_?)dup GRCh37: Chr11:118967708-119103425	ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NHERF4, NLRX1		RASopathy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 242531411.	NC_000011.9:g.(?_119077128)_(119077342_?)dup GRCh37: Chr11:119077128-119077342	CBL		RASopathy	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 242531312.	NC_000011.9:g.(?_119144558)_(119156296_?)del GRCh37: Chr11:119144558-119156296	CBL		RASopathy	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 242531213.	NC_000011.9:g.(?_119077128)_(119077342_?)del GRCh37: Chr11:119077128-119077342	CBL		RASopathy	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 242525514.	NC_000012.11:g.(?_25362729)_(25362865_?)dup GRCh37: Chr12:25362729-25362865	KRAS		RASopathy	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 242525415.	NC_000012.11:g.(?_25398188)_(25398318_?)dup GRCh37: Chr12:25398188-25398318	KRAS		RASopathy	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 242507316.	NC_000007.13:g.(?_138391369)_(141759786_?)del GRCh37: Chr7:138391369-141759786	ADCK2, AGK, ATP6V0A4, BRAF, CLEC2L, CLEC5A, DENND11, DENND2A, FMC1, FMC1-LUC7L2, IFT56, KDM7A, KIAA1549, KLRG2, LUC7L2, MGAM, MKRN1, MRPS33, NDUFB2, OR9A4, PARP12, PRSS37, RAB19, SLC37A3, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TBXAS1, TMEM178B, TMEM213, UBN2, WEE2, ZC3HAV1, ZC3HAV1L		not provided	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 242507217.	NC_000007.13:g.(?_140624346)_(140624503_?)dup GRCh37: Chr7:140624346-140624503	BRAF		RASopathy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 242507118.	NC_000007.13:g.(?_140534389)_(140534692_?)del GRCh37: Chr7:140534389-140534692	BRAF		RASopathy	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 242456319.	NC_000003.11:g.(?_12645615)_(12660220_?)dup GRCh37: Chr3:12645615-12660220	RAF1		RASopathy	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 242456220.	NC_000003.11:g.(?_12650245)_(12660220_?)dup GRCh37: Chr3:12650245-12660220	RAF1		RASopathy	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 242456121.	NC_000003.11:g.(?_12629070)_(12660220_?)dup GRCh37: Chr3:12629070-12660220	RAF1		RASopathy	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 242456022.	NC_000003.11:g.(?_12558090)_(12629156_?)dup GRCh37: Chr3:12558090-12629156	MKRN2, RAF1, TSEN2		RASopathy	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 242454823.	NC_000012.11:g.(?_112909300)_(112915437_?)del GRCh37: Chr12:112909300-112915437	PTPN11		RASopathy	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 242454624.	NC_000012.11:g.(?_112910728)_(113008334_?)del GRCh37: Chr12:112910728-113008334	PTPN11		RASopathy	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 242454525.	NC_000012.11:g.(?_112884060)_(112884222_?)del GRCh37: Chr12:112884060-112884222	PTPN11		RASopathy	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 242454426.	NC_000012.11:g.(?_112919858)_(112920029_?)del GRCh37: Chr12:112919858-112920029	PTPN11		RASopathy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242452827.	NC_000015.9:g.(?_66679686)_(66679785_?)dup GRCh37: Chr15:66679686-66679785	MAP2K1		RASopathy	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 242447628.	NC_000001.10:g.(?_113456513)_(116311162_?)dup GRCh37: Chr1:113456513-116311162	SIKE1, DENND2C, AP4B1, NGF, PHTF1, OLFML3, SYCP1, LRIG2, DCLRE1B, AMPD1, SYT6, TSPAN2, PTPN22, TSHB, CSDE1, MAGI3, SLC16A1, BCAS2, CASQ2, RSBN1, NRAS, BCL2L15, TRIM33, HIPK1, VANGL1		RASopathy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 242358029.	NM_002834.5(PTPN11):c.487G>T (p.Gly163Cys) GRCh37: Chr12:112891153 GRCh38: Chr12:112453349	PTPN11	G162C, G163C	RASopathy	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 242287830.	NM_005188.4(CBL):c.1941+4A>C GRCh37: Chr11:119156280 GRCh38: Chr11:119285570	CBL		RASopathy	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 242230331.	NC_000011.9:g.(?_116691583)_(121500272_?)dup GRCh37: Chr11:116691583-121500272	ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BACE1-AS, BCL9L, C1QTNF5, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11		Inflammatory bowel disease 28, Isolated microphthalmia 5, Immunodeficiency 19, RASopathy, Combined immunodeficiency due to CD3gamma deficiency, Immunodeficiency 18	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 242181832.	NM_005188.4(CBL):c.1596A>G (p.Pro532=) GRCh37: Chr11:119155931 GRCh38: Chr11:119285221	CBL		RASopathy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 242110233.	NM_007373.4(SHOC2):c.562G>A (p.Val188Met) GRCh37: Chr10:112724678 GRCh38: Chr10:110964920	SHOC2	V188M	RASopathy	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 242063734.	NM_005188.4(CBL):c.2155G>T (p.Ala719Ser) GRCh37: Chr11:119168095 GRCh38: Chr11:119297385	CBL	A719S	RASopathy	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 242056335.	NM_005633.4(SOS1):c.2820A>G (p.Thr940=) GRCh37: Chr2:39224538 GRCh38: Chr2:38997397	SOS1		RASopathy	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 242000636.	NM_005188.4(CBL):c.1563+14C>T GRCh37: Chr11:119155824 GRCh38: Chr11:119285114	CBL		RASopathy	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 241989537.	NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn) GRCh37: Chr15:66727499 GRCh38: Chr15:66435161	MAP2K1	S50N, S72N	RASopathy	Uncertain significance (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241962838.	NM_002834.5(PTPN11):c.1379+18C>T GRCh37: Chr12:112924451 GRCh38: Chr12:112486647	PTPN11		RASopathy	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 241957139.	NM_002755.4(MAP2K1):c.291+14_291+16del GRCh37: Chr15:66727588-66727590 GRCh38: Chr15:66435250-66435252	MAP2K1		RASopathy	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 241948140.	NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val) GRCh37: Chr15:66679762 GRCh38: Chr15:66387424	MAP2K1	A26V	RASopathy	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 241936441.	NM_002834.5(PTPN11):c.934-10A>G GRCh37: Chr12:112915651 GRCh38: Chr12:112477847	PTPN11		RASopathy	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 241919142.	NM_002880.4(RAF1):c.1371-8C>T GRCh37: Chr3:12629144 GRCh38: Chr3:12587645	RAF1		RASopathy	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 241904143.	NM_005633.4(SOS1):c.3391+8T>C GRCh37: Chr2:39216403 GRCh38: Chr2:38989262	SOS1		RASopathy	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 241887244.	NM_005633.4(SOS1):c.3325C>T (p.His1109Tyr) GRCh37: Chr2:39222285 GRCh38: Chr2:38995144	SOS1	H1102Y, H1109Y	RASopathy	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 241804045.	NM_002880.4(RAF1):c.113A>G (p.Tyr38Cys) GRCh37: Chr3:12660108 GRCh38: Chr3:12618609	RAF1	Y38C	RASopathy	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 241783946.	NM_004333.6(BRAF):c.288A>G (p.Glu96=) GRCh37: Chr7:140534625 GRCh38: Chr7:140834825	BRAF		not provided, RASopathy	Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241760447.	NM_005188.4(CBL):c.1980C>T (p.Asp660=) GRCh37: Chr11:119158600 GRCh38: Chr11:119287890	CBL		RASopathy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241707548.	NM_005188.4(CBL):c.1142G>A (p.Cys381Tyr) GRCh37: Chr11:119148922 GRCh38: Chr11:119278212	CBL	C381Y	RASopathy	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 241664449.	NM_030662.4(MAP2K2):c.901C>G (p.Pro301Ala) GRCh37: Chr19:4099217 GRCh38: Chr19:4099219	MAP2K2	P301A	RASopathy	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 241628750.	NM_002880.4(RAF1):c.1370+15T>G GRCh37: Chr3:12632282 GRCh38: Chr3:12590783	RAF1		RASopathy	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 241627251.	NM_002755.4(MAP2K1):c.960+12C>T GRCh37: Chr15:66779642 GRCh38: Chr15:66487304	MAP2K1		RASopathy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 241580752.	NM_004333.6(BRAF):c.609-13C>G GRCh37: Chr7:140507875 GRCh38: Chr7:140808075	BRAF		RASopathy	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 241514953.	NM_005633.4(SOS1):c.2949A>G (p.Val983=) GRCh37: Chr2:39224409 GRCh38: Chr2:38997268	SOS1		RASopathy	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 241458854.	NM_005188.4(CBL):c.26C>T (p.Ser9Phe) GRCh37: Chr11:119077153 GRCh38: Chr11:119206443	CBL, LOC130006895	S9F	RASopathy	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 241449355.	NM_005188.4(CBL):c.1504C>T (p.Leu502Phe) GRCh37: Chr11:119155751 GRCh38: Chr11:119285041	CBL	L502F	CBL-related condition, RASopathy	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241419456.	NM_030662.4(MAP2K2):c.168C>G (p.Ala56=) GRCh37: Chr19:4117552 GRCh38: Chr19:4117554	MAP2K2		RASopathy	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 241359557.	NM_005633.4(SOS1):c.2590G>A (p.Glu864Lys) GRCh37: Chr2:39234255 GRCh38: Chr2:39007114	SOS1	E857K, E864K	RASopathy	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 241329458.	NM_004333.6(BRAF):c.1539C>A (p.Ile513=) GRCh37: Chr7:140476867 GRCh38: Chr7:140777067	BRAF		RASopathy	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 220317759.	NM_005633.4(SOS1):c.3439G>A (p.Val1147Met) GRCh37: Chr2:39214685 GRCh38: Chr2:38987544	SOS1	V1140M, V1147M, V1132M	RASopathy	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 220315660.	NM_002834.5(PTPN11):c.1092+18C>A GRCh37: Chr12:112915837 GRCh38: Chr12:112478033	PTPN11		RASopathy	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 220278661.	NM_005188.4(CBL):c.2172G>A (p.Gln724=) GRCh37: Chr11:119168112 GRCh38: Chr11:119297402	CBL		RASopathy	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 220263462.	NM_002755.4(MAP2K1):c.81-13C>T GRCh37: Chr15:66727352 GRCh38: Chr15:66435014	MAP2K1		RASopathy	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 220248263.	NM_002880.4(RAF1):c.835-18T>G GRCh37: Chr3:12641932 GRCh38: Chr3:12600433	RAF1		RASopathy	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 220246964.	NM_004333.6(BRAF):c.346T>G (p.Ser116Ala) GRCh37: Chr7:140534567 GRCh38: Chr7:140834767	BRAF	S64A, S82A, S116A	RASopathy	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 220245565.	NM_030662.4(MAP2K2):c.279C>G (p.Pro93=) GRCh37: Chr19:4117441 GRCh38: Chr19:4117443	MAP2K2		RASopathy	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 220231566.	NM_005188.4(CBL):c.2065G>T (p.Gly689Trp) GRCh37: Chr11:119167656 GRCh38: Chr11:119296946	CBL	G689W	RASopathy	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 220227167.	NM_030662.4(MAP2K2):c.193G>A (p.Gly65Ser) GRCh37: Chr19:4117527 GRCh38: Chr19:4117529	MAP2K2	G65S	RASopathy	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 220224468.	NM_007373.4(SHOC2):c.1540+18G>A GRCh37: Chr10:112769606 GRCh38: Chr10:111009848	SHOC2		RASopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 220220369.	NM_005633.4(SOS1):c.3584G>A (p.Arg1195Gln) GRCh37: Chr2:39213383 GRCh38: Chr2:38986242	SOS1	R1188Q, R1195Q, R1180Q	RASopathy	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 220213570.	NM_005188.4(CBL):c.2037-16A>C GRCh37: Chr11:119167612 GRCh38: Chr11:119296902	CBL		RASopathy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220184271.	NM_002834.5(PTPN11):c.1609A>C (p.Arg537=) GRCh37: Chr12:112939957 GRCh38: Chr12:112502153	PTPN11		RASopathy	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 220096672.	NM_005188.4(CBL):c.747+8A>T GRCh37: Chr11:119144742 GRCh38: Chr11:119274032	CBL		not specified, RASopathy	Conflicting interpretations of pathogenicity (Feb 20, 2023)	criteria provided, conflicting interpretations
Select item 220017473.	NM_002880.4(RAF1):c.1666C>G (p.Gln556Glu) GRCh37: Chr3:12626623 GRCh38: Chr3:12585124	RAF1	Q442E, Q475E, Q495E, Q523E, Q556E, Q576E	RASopathy	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 220006174.	NM_007373.4(SHOC2):c.129T>C (p.Pro43=) GRCh37: Chr10:112724245 GRCh38: Chr10:110964487	SHOC2		RASopathy	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 220006075.	NM_007373.4(SHOC2):c.126A>T (p.Glu42Asp) GRCh37: Chr10:112724242 GRCh38: Chr10:110964484	SHOC2	E42D	RASopathy	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 219993776.	NM_004333.6(BRAF):c.2134G>T (p.Ala712Ser) GRCh37: Chr7:140434564 GRCh38: Chr7:140734764	BRAF	A690S, A752S, A712S, A660S, A675S, A715S, A624S, A678S	RASopathy	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 219993677.	NM_030662.4(MAP2K2):c.1112G>T (p.Arg371Leu) GRCh37: Chr19:4090687 GRCh38: Chr19:4090689	MAP2K2	R371L	RASopathy	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 219981178.	NM_002524.5(NRAS):c.451-19dup GRCh37: Chr1:115251293-115251294 GRCh38: Chr1:114708672-114708673	NRAS		RASopathy	Benign (Apr 1, 2022)	criteria provided, single submitter
Select item 219959479.	NM_002880.4(RAF1):c.834+10C>T GRCh37: Chr3:12645625 GRCh38: Chr3:12604126	RAF1		RASopathy	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 219951280.	NM_004333.6(BRAF):c.1993-10dup GRCh37: Chr7:140439755-140439756 GRCh38: Chr7:140739955-140739956	BRAF		RASopathy	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 219935581.	NM_005633.4(SOS1):c.1798A>G (p.Ile600Val) GRCh37: Chr2:39249771 GRCh38: Chr2:39022630	SOS1	I593V, I600V	Cardiovascular phenotype, RASopathy	Uncertain significance (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219899282.	NM_004333.6(BRAF):c.2127+11G>A GRCh37: Chr7:140439601 GRCh38: Chr7:140739801	BRAF		RASopathy	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 219885183.	NM_002834.5(PTPN11):c.912C>T (p.Tyr304=) GRCh37: Chr12:112915513 GRCh38: Chr12:112477709	PTPN11		RASopathy	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219883884.	NM_005633.4(SOS1):c.1167A>G (p.Lys389=) GRCh37: Chr2:39251186 GRCh38: Chr2:39024045	SOS1		Cardiovascular phenotype, RASopathy	Likely benign (May 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219871785.	NM_005188.4(CBL):c.443+13del GRCh37: Chr11:119103418 GRCh38: Chr11:119232708	CBL		RASopathy	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 219854486.	NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln) GRCh37: Chr15:66782063 GRCh38: Chr15:66489725	MAP2K1	K344Q, K296Q	RASopathy	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219829087.	NM_002755.4(MAP2K1):c.724G>A (p.Val242Met) GRCh37: Chr15:66777358 GRCh38: Chr15:66485020	MAP2K1	V194M, V242M	RASopathy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219799988.	NM_030662.4(MAP2K2):c.889C>A (p.Arg297=) GRCh37: Chr19:4099229 GRCh38: Chr19:4099231	MAP2K2		RASopathy	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 219795289.	NM_030662.4(MAP2K2):c.904G>A (p.Gly302Arg) GRCh37: Chr19:4099214 GRCh38: Chr19:4099216	MAP2K2	G302R	RASopathy	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 219785090.	NM_005188.4(CBL):c.2309A>G (p.Glu770Gly) GRCh37: Chr11:119169125 GRCh38: Chr11:119298415	CBL	E770G	RASopathy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 219750791.	NM_005188.4(CBL):c.1256G>A (p.Cys419Tyr) GRCh37: Chr11:119149248 GRCh38: Chr11:119278538	CBL	C419Y	RASopathy	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 219711192.	NM_005633.4(SOS1):c.1815T>C (p.Thr605=) GRCh37: Chr2:39249754 GRCh38: Chr2:39022613	SOS1		Cardiovascular phenotype, RASopathy	Likely benign (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219694193.	NM_002834.5(PTPN11):c.877C>T (p.His293Tyr) GRCh37: Chr12:112915478 GRCh38: Chr12:112477674	PTPN11	H292Y, H293Y	RASopathy	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 219687594.	NM_002755.4(MAP2K1):c.439-8G>C GRCh37: Chr15:66735610 GRCh38: Chr15:66443272	MAP2K1		RASopathy	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 219632595.	NM_002834.5(PTPN11):c.500T>C (p.Val167Ala) GRCh37: Chr12:112891166 GRCh38: Chr12:112453362	PTPN11	V167A, V166A	RASopathy	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 219611996.	NM_030662.4(MAP2K2):c.580+5G>C GRCh37: Chr19:4101222 GRCh38: Chr19:4101224	MAP2K2		RASopathy	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 219575897.	NM_004985.5(KRAS):c.66G>A (p.Gln22=) GRCh37: Chr12:25398253 GRCh38: Chr12:25245319	KRAS		RASopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 219574098.	NM_004333.6(BRAF):c.1177+11A>C GRCh37: Chr7:140487337 GRCh38: Chr7:140787537	BRAF		RASopathy	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 219517099.	NM_002880.4(RAF1):c.862+14G>A GRCh37: Chr3:12641873 GRCh38: Chr3:12600374	RAF1		RASopathy	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 2194832100.	NM_005188.4(CBL):c.748-18T>C GRCh37: Chr11:119145524 GRCh38: Chr11:119274814	CBL		RASopathy	Likely benign (Aug 27, 2022)	criteria provided, single submitter

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