"Ambry Genetics"[submitter] AND "MYLK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1749335	NM_053025.4(MYLK):c.5732A>T (p.Glu1911Val)	MYLK, MYLK-AS1 (E150V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 511342	NM_053025.4(MYLK):c.5715T>G (p.Gly1905=)	MYLK-AS1, MYLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1749196	NM_053025.4(MYLK):c.5709G>C (p.Glu1903Asp)	MYLK, MYLK-AS1 (E143D +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3297622	NM_053025.4(MYLK):c.5707G>C (p.Glu1903Gln)	MYLK, MYLK-AS1 (E142Q +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520016	NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile)	MYLK, MYLK-AS1 (M1902I +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342865	NM_053025.4(MYLK):c.5703G>A (p.Thr1901=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 582360	NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)	MYLK, MYLK-AS1 (T1901M +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GConflicting classifications of pathogenicity
Select item 1217297	NM_053025.4(MYLK):c.5697G>A (p.Val1899=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 519999	NM_053025.4(MYLK):c.5695G>A (p.Val1899Met)	MYLK, MYLK-AS1 (V1899M +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2567254	NM_053025.4(MYLK):c.5675C>G (p.Thr1892Ser)	MYLK, MYLK-AS1 (T1892S +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520019	NM_053025.4(MYLK):c.5673C>T (p.Ala1891=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1748933	NM_053025.4(MYLK):c.5664T>G (p.Leu1888=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 682145	NM_053025.4(MYLK):c.5649G>A (p.Lys1883=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +2 more	GLikely benign
Select item 1748804	NM_053025.4(MYLK):c.5642C>T (p.Thr1881Ile)	MYLK, MYLK-AS1 (T1705I +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520015	NM_053025.4(MYLK):c.5631T>C (p.Asp1877=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 1748726	NM_053025.4(MYLK):c.5629G>T (p.Asp1877Tyr)	MYLK, MYLK-AS1 (D116Y +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2413814	NM_053025.4(MYLK):c.5628C>T (p.Asp1876=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 1748718	NM_053025.4(MYLK):c.5625T>G (p.Asp1875Glu)	MYLK-AS1, MYLK (D114E +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1194290	NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg)	MYLK, MYLK-AS1 (G113R +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 3297600	NM_053025.4(MYLK):c.5609G>A (p.Ser1870Asn)	MYLK, MYLK-AS1 (S110N +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1748594	NM_053025.4(MYLK):c.5605A>G (p.Ile1869Val)	MYLK, MYLK-AS1 (I108V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519981	NM_053025.4(MYLK):c.5586C>T (p.Asp1862=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3297618	NM_053025.4(MYLK):c.5584G>T (p.Asp1862Tyr)	MYLK, MYLK-AS1 (D1686Y +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2603914	NM_053025.4(MYLK):c.5578G>A (p.Asp1860Asn)	MYLK, MYLK-AS1 (D1791N +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1092316	NM_053025.4(MYLK):c.5577C>T (p.Tyr1859=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2379819	NM_053025.4(MYLK):c.5572G>T (p.Asp1858Tyr)	MYLK, MYLK-AS1 (D1807Y +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 539094	NM_053025.4(MYLK):c.5562C>T (p.His1854=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1356586	NM_053025.4(MYLK):c.5558G>A (p.Arg1853His)	MYLK, MYLK-AS1 (R1733H +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 999240	NM_053025.4(MYLK):c.5557C>T (p.Arg1853Cys)	MYLK, MYLK-AS1 (R1677C +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1474183	NM_053025.4(MYLK):c.5545A>G (p.Ile1849Val)	MYLK, MYLK-AS1 (I1673V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2442807	NM_053025.4(MYLK):c.5535T>G (p.Asp1845Glu)	MYLK, MYLK-AS1 (D1669E +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 471739	NM_053025.4(MYLK):c.5535T>C (p.Asp1845=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 624221	NM_053025.4(MYLK):c.5514C>T (p.Pro1838=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign/Likely benign
Select item 1748050	NM_053025.4(MYLK):c.5513C>T (p.Pro1838Leu)	MYLK, MYLK-AS1 (P1662L +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2452963	NM_053025.4(MYLK):c.5501G>C (p.Gly1834Ala)	MYLK, MYLK-AS1 (G74A +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520013	NM_053025.4(MYLK):c.5501-3C>T	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 252775	NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)	MYLK, MYLK-AS1 (A1826V +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1747671	NM_053025.4(MYLK):c.5460T>C (p.Val1820=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1141961	NM_053025.4(MYLK):c.5454A>G (p.Leu1818=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 342866	NM_053025.4(MYLK):c.5448C>T (p.Arg1816=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 222741	NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)	MYLK, MYLK-AS1 (R1816H +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 660173	NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)	MYLK-AS1, MYLK (R1640C +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 342867	NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)	MYLK, MYLK-AS1 (T1814I +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3228928	NM_053025.4(MYLK):c.5439G>A (p.Lys1813=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3228927	NM_053025.4(MYLK):c.5438A>T (p.Lys1813Met)	MYLK, MYLK-AS1 (K1637M +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1539017	NM_053025.4(MYLK):c.5430T>C (p.Tyr1810=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 520020	NM_053025.4(MYLK):c.5426C>G (p.Pro1809Arg)	MYLK, MYLK-AS1 (P1809R +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2892482	NM_053025.4(MYLK):c.5417A>C (p.His1806Pro)	MYLK, MYLK-AS1 (H1630P +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 252774	NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn)	MYLK, MYLK-AS1 (K1804N +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1747323	NM_053025.4(MYLK):c.5403T>G (p.Ala1801=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1747318	NM_053025.4(MYLK):c.5402C>T (p.Ala1801Val)	MYLK, MYLK-AS1 (A1681V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 409688	NM_053025.4(MYLK):c.5374G>A (p.Val1792Met)	MYLK, MYLK-AS1 (V1792M +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3297617	NM_053025.4(MYLK):c.5355A>T (p.Lys1785Asn)	MYLK, MYLK-AS1 (K1665N +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3228926	NM_053025.4(MYLK):c.5339C>A (p.Pro1780Gln)	MYLK, MYLK-AS1 (P1604Q +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1052898	NM_053025.4(MYLK):c.5339C>T (p.Pro1780Leu)	MYLK, MYLK-AS1 (P1604L +5 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342868	NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser)	MYLK, MYLK-AS1 (P1777S +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1746839	NM_053025.4(MYLK):c.5323G>C (p.Gly1775Arg)	MYLK, MYLK-AS1 (G15R +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1746777	NM_053025.4(MYLK):c.5313A>G (p.Lys1771=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 578471	NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)	MYLK, MYLK-AS1 (S1768G +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 700268	NM_053025.4(MYLK):c.5280T>G (p.Ser1760=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 519982	NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr)	MYLK, MYLK-AS1 (I1755T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1746309	NM_053025.4(MYLK):c.5243C>T (p.Thr1748Met)	MYLK, MYLK-AS1 (T1628M +4 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519998	NM_053025.4(MYLK):c.5237A>C (p.Gln1746Pro)	MYLK, MYLK-AS1 (Q1746P +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3228925	NM_053025.4(MYLK):c.5221G>A (p.Ala1741Thr)	MYLK, MYLK-AS1 (A1565T +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297613	NM_053025.4(MYLK):c.5214G>T (p.Lys1738Asn)	MYLK, MYLK-AS1 (K1738N +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1746119	NM_053025.4(MYLK):c.5213A>G (p.Lys1738Arg)	MYLK, MYLK-AS1 (K1562R +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1745931	NM_053025.4(MYLK):c.5193C>T (p.Leu1731=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 415755	NM_053025.4(MYLK):c.5166T>C (p.Asp1722=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2772401	NM_053025.4(MYLK):c.5162A>G (p.Lys1721Arg)	MYLK, MYLK-AS1 (K1670R +4 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 2334986	NM_053025.4(MYLK):c.5148T>A (p.His1716Gln)	MYLK, MYLK-AS1 (H1540Q +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1745581	NM_053025.4(MYLK):c.5138G>A (p.Cys1713Tyr)	MYLK, MYLK-AS1 (C1537Y +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1085380	NM_053025.4(MYLK):c.5133G>A (p.Thr1711=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 625981	NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg)	MYLK, MYLK-AS1 (T1711R +4 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 471734	NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met)	MYLK, MYLK-AS1 (T1711M +4 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GConflicting classifications of pathogenicity
Select item 3297598	NM_053025.4(MYLK):c.5130C>T (p.Cys1710=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 415758	NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 471733	NM_053025.4(MYLK):c.5120G>A (p.Arg1707His)	MYLK, MYLK-AS1 (R1707H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1316369	NM_053025.4(MYLK):c.5108A>C (p.Asp1703Ala)	LOC126806791, MYLK +1 more (D1527A +2 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2587197	NM_053025.4(MYLK):c.5100G>A (p.Leu1700=)	LOC126806791, MYLK +1 more	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 226772	NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more	GBenign
Select item 3297625	NM_053025.4(MYLK):c.5068G>A (p.Asp1690Asn)	LOC126806791, MYLK +1 more (D1690N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 699151	NM_053025.4(MYLK):c.5067C>T (p.Ser1689=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3297609	NM_053025.4(MYLK):c.5059G>C (p.Glu1687Gln)	LOC126806791, MYLK +1 more (E1511Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 389618	NM_053025.4(MYLK):c.5055C>T (p.Phe1685=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1343725	NM_053025.4(MYLK):c.5046C>T (p.Asp1682=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +2 more	GLikely benign
Select item 840175	NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn)	LOC126806791, MYLK +1 more (D1613N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 1744955	NM_053025.4(MYLK):c.5041G>A (p.Asp1681Asn)	LOC126806791, MYLK +1 more (D1505N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 572742	NM_053025.4(MYLK):c.5041G>T (p.Asp1681Tyr)	LOC126806791, MYLK +1 more (D1681Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 471732	NM_053025.4(MYLK):c.5019T>C (p.Val1673=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 1744792	NM_053025.4(MYLK):c.5017G>A (p.Val1673Ile)	LOC126806791, MYLK +1 more (V1497I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1368072	NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser)	LOC126806791, MYLK +1 more (N1603S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 1744724	NM_053025.4(MYLK):c.5002G>A (p.Glu1668Lys)	LOC126806791, MYLK +1 more (E1492K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 262290	NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1744619	NM_053025.4(MYLK):c.4996G>A (p.Asp1666Asn)	LOC126806791, MYLK +1 more (D1490N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3228924	NM_053025.4(MYLK):c.4991A>G (p.Asp1664Gly)	LOC126806791, MYLK +1 more (D1488G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1210629	NM_053025.4(MYLK):c.4983C>T (p.Phe1661=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1744427	NM_053025.4(MYLK):c.4963G>A (p.Val1655Ile)	LOC126806791, MYLK +1 more (V1586I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2567249	NM_053025.4(MYLK):c.4960C>T (p.Leu1654=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 3228923	NM_053025.4(MYLK):c.4945G>C (p.Val1649Leu)	MYLK (V1473L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 415765	NM_053025.4(MYLK):c.4941C>T (p.Ile1647=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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