"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYH11"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 192314	NM_017668.3(NDE1):c.947+7126G>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1750163	NM_002474.3(MYH11):c.5865G>A (p.Glu1955=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	MYH11-related disorder +1 more	GLikely benign
Select item 257254	NM_017668.3(NDE1):c.947+11946G>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 238263	NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)	MYH11, NDE1 (Q1934fs +1 more)	Duplication (frameshift variant +1 more)	MYH11-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 627645	NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)	MYH11, NDE1 (P1933fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 201041	NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)	MYH11, NDE1 (P1933Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 257262	NM_017668.3(NDE1):c.948-9293G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +4 more	GConflicting classifications of pathogenicity
Select item 2067782	NM_002474.3(MYH11):c.5785A>C (p.Arg1929=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 517788	NM_002474.3(MYH11):c.5760G>A (p.Glu1920=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GLikely benign
Select item 138359	NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 3060211	NM_002474.3(MYH11):c.5679C>T (p.Ser1893=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	MYH11-related disorder	GLikely benign
Select item 138358	NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)	MYH11, NDE1 (E1899D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 264071	NM_002474.3(MYH11):c.5652G>A (p.Arg1884=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 264414	NM_002474.3(MYH11):c.5595C>T (p.Ala1865=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 197068	NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 201039	NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)	MYH11, NDE1 (S1843L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 138356	NM_002474.3(MYH11):c.5517G>A (p.Ala1839=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 197069	NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)	MYH11, NDE1 (A1846V +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 138355	NM_017668.3(NDE1):c.948-7059C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 138354	NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +7 more	GBenign/Likely benign
Select item 201085	NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)	MYH11, NDE1 (A1817V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138353	NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +7 more	GBenign/Likely benign
Select item 318095	NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)	MYH11, NDE1 (H1809Q +1 more)	Single nucleotide variant (missense variant +1 more)	MYH11-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 138351	NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 201038	NM_002474.3(MYH11):c.5313C>T (p.Asn1771=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 633327	NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu)	NDE1, MYH11 (Q1768E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 138350	NM_017668.3(NDE1):c.948-6839G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 580565	NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3])	MYH11, NDE1	Microsatellite (inframe_insertion +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 318101	NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)	MYH11, NDE1 (E1749D +1 more)	Single nucleotide variant (missense variant +1 more)	MYH11-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 226744	NM_017668.3(NDE1):c.948-5748G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 36625	NM_017668.3(NDE1):c.948-5739G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Lissencephaly, Recessive +6 more	GBenign/Likely benign
Select item 257261	NM_017668.3(NDE1):c.948-4980G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 630540	NM_002474.3(MYH11):c.4953G>C (p.Gln1651His)	MYH11, NDE1 (Q1651H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 318104	NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	MYH11-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 580843	NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)	MYH11, NDE1 (K1628del +1 more)	Microsatellite (inframe_deletion +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 318106	NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257260	NM_017668.3(NDE1):c.948-3368C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GBenign/Likely benign
Select item 36621	NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +5 more	GBenign/Likely benign
Select item 180419	NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)	MYH11, NDE1 (T1565M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 386837	NM_002474.3(MYH11):c.4659C>T (p.Asp1553=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GLikely benign
Select item 180418	NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)	MYH11, NDE1 (R1542Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 372423	NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp)	MYH11, NDE1 (R1535W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 138346	NM_017668.3(NDE1):c.948-2772T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 138345	NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)	MYH11, NDE1 (M1515V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 920154	NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly)	NDE1, MYH11 (A1483G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 138343	NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 2630274	NM_002474.3(MYH11):c.4312A>G (p.Asn1438Asp)	MYH11, NDE1 (L324S +2 more)	Single nucleotide variant (missense variant)	MYH11-related disorder	GUncertain significance
Select item 3029695	NM_002474.3(MYH11):c.4284G>A (p.Glu1428=)	MYH11, NDE1	Single nucleotide variant (synonymous variant)	MYH11-related disorder	GLikely benign
Select item 201110	NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)	MYH11, NDE1 (A1414T +1 more)	Indel (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 138342	NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +8 more	GBenign
Select item 201073	NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)	MYH11, NDE1 (A1414T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +6 more	GConflicting classifications of pathogenicity
Select item 221033	NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 201113	NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg)	NDE1, MYH11 (G1393R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GLikely benign
Select item 138341	NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +5 more	GBenign/Likely benign
Select item 138340	NM_017668.3(NDE1):c.*384C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4 +4 more	GBenign/Likely benign
Select item 201034	NM_017668.3(NDE1):c.*388del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138339	NM_002474.3(MYH11):c.4095C>T (p.His1365=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 1737757	NM_002474.3(MYH11):c.4092C>G (p.Arg1364=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 257259	NM_002474.3(MYH11):c.4083C>T (p.Asn1361=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 201070	NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)	MYH11, NDE1 (Q1325E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 138338	NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +6 more	GBenign
Select item 201031	NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)	MYH11, NDE1 (L1317I +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 201068	NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)	MYH11, NDE1 (V1310M +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +10 more	GConflicting classifications of pathogenicity
Select item 257258	NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +6 more	GConflicting classifications of pathogenicity
Select item 138337	NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)	MYH11, NDE1 (V1296A +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 4 +6 more	GBenign/Likely benign
Select item 138335	NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)	MYH11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 36620	NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 465730	NM_002474.3(MYH11):c.3777G>A (p.Ala1259=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +3 more	GLikely benign
Select item 138334	NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)	MYH11, NDE1 (A1241T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly, Recessive +7 more	GBenign
Select item 36619	NM_002474.3(MYH11):c.3652-6C>T	MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 465727	NM_002474.3(MYH11):c.3651+7_3651+11del	MYH11	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 264115	NM_002474.3(MYH11):c.3651+5del	MYH11	Deletion (intron variant)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign
Select item 519964	NM_002474.3(MYH11):c.3612G>A (p.Ala1204=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +3 more	GLikely benign
Select item 378204	NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1175887	NM_002474.3(MYH11):c.3505A>C (p.Arg1169=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 519927	NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)	MYH11 (D1157N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 920107	NM_002474.3(MYH11):c.3435C>T (p.Gly1145=)	MYH11	Single nucleotide variant (synonymous variant)	MYH11-related disorder +1 more	GLikely benign
Select item 138333	NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr)	MYH11 (A1111T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 378203	NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 201061	NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 517771	NM_002474.3(MYH11):c.3282G>A (p.Ala1094=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +3 more	GLikely benign
Select item 1385760	NM_002474.3(MYH11):c.3173G>A (p.Arg1058Gln)	MYH11 (R1065Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1154656	NM_002474.3(MYH11):c.3121+10C>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 922441	NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)	MYH11 (M1042T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 257257	NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 201026	NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 257256	NM_002474.3(MYH11):c.2998-20C>T	MYH11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 257255	NM_002474.3(MYH11):c.2997+14G>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 138332	NM_002474.3(MYH11):c.2961C>T (p.Ile987=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 547541	NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)	MYH11 (T975M +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GUncertain significance
Select item 629495	NM_002474.3(MYH11):c.2850G>A (p.Gln950=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 201056	NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)	MYH11 (S883L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 138331	NM_002474.3(MYH11):c.2520+17A>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign/Likely benign
Select item 2635220	NM_002474.3(MYH11):c.2498A>C (p.Gln833Pro)	MYH11 (Q833P +1 more)	Single nucleotide variant (missense variant)	MYH11-related disorder	GUncertain significance
Select item 138330	NM_002474.3(MYH11):c.2472C>T (p.Ala824=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign
Select item 36617	NM_002474.3(MYH11):c.2412-9C>A	MYH11	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 465715	NM_002474.3(MYH11):c.2340G>A (p.Glu780=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 576938	NM_002474.3(MYH11):c.2250+3G>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GConflicting classifications of pathogenicity
Select item 36616	NM_002474.3(MYH11):c.2208C>T (p.Ile736=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 138329	NM_002474.3(MYH11):c.2079C>T (p.Phe693=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign

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