"GeneDx"[submitter] AND "MYLK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 452981	NM_053025.4(MYLK):c.5742G>T (p.Glu1914Asp)	MYLK, MYLK-AS1 (E1914D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009254	NM_053025.4(MYLK):c.5736AGA[1] (p.Glu1914del)	MYLK, MYLK-AS1 (E153del +6 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1186791	NM_053025.4(MYLK):c.5720GGGAAG[1] (p.1905GE[2])	MYLK, MYLK-AS1	Microsatellite (inframe_deletion)	not provided	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 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 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 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 1315816	NM_053025.4(MYLK):c.5609G>T (p.Ser1870Ile)	MYLK, MYLK-AS1 (S109I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891964	NM_053025.4(MYLK):c.5597C>T (p.Ser1866Phe)	MYLK, MYLK-AS1 (S1866F +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2572844	NM_053025.4(MYLK):c.5567A>G (p.Gln1856Arg)	MYLK, MYLK-AS1 (Q1680R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 681685	NM_053025.4(MYLK):c.5501-20G>A	MYLK-AS1, MYLK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely 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 937579	NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn)	MYLK, MYLK-AS1 (D1641N +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
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 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 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 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 415770	NM_053025.4(MYLK):c.5369-10T>G	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 420653	NM_053025.4(MYLK):c.5368+13_5368+21del	MYLK, MYLK-AS1	Deletion (intron variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 1318576	NM_053025.4(MYLK):c.5350G>A (p.Glu1784Lys)	MYLK-AS1, MYLK (E1608K +5 more)	Single nucleotide variant (missense variant)	not provided +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 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 1800889	NM_053025.4(MYLK):c.5273T>C (p.Leu1758Pro)	MYLK, MYLK-AS1 (L1582P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 698274	NM_053025.4(MYLK):c.5238+6G>A	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 1320712	NM_053025.4(MYLK):c.5163A>C (p.Lys1721Asn)	MYLK, MYLK-AS1 (K1545N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390208	NM_053025.4(MYLK):c.5155C>T (p.Leu1719=)	MYLK-AS1, MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GConflicting classifications of pathogenicity
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 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 507773	NM_053025.4(MYLK):c.5115-7C>T	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 262291	NM_053025.4(MYLK):c.5114+8G>A	LOC126806791, MYLK +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1316575	NM_053025.4(MYLK):c.5095C>A (p.Leu1699Met)	LOC126806791, MYLK +1 more (L1523M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1320709	NM_053025.4(MYLK):c.5092A>C (p.Asn1698His)	LOC126806791, MYLK +1 more (N1522H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
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 668225	NM_053025.4(MYLK):c.5070C>T (p.Asp1690=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
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 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 1161923	NM_053025.4(MYLK):c.5016C>T (p.Asn1672=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
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 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 648936	NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly)	LOC126806791, MYLK +1 more (D1666G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 513337	NM_053025.4(MYLK):c.4995C>T (p.Asn1665=)	MYLK-AS1, LOC126806791 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GLikely benign
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 415765	NM_053025.4(MYLK):c.4941C>T (p.Ile1647=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1318842	NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly)	MYLK (S1470G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 241762	NM_053025.4(MYLK):c.4929C>T (p.Asp1643=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 539103	NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 546532	NM_053025.4(MYLK):c.4915G>A (p.Gly1639Ser)	MYLK (G1639S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 264399	NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg)	MYLK (G1639R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 1320472	NM_053025.4(MYLK):c.4904A>C (p.Tyr1635Ser)	MYLK (Y1459S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 439942	NM_053025.4(MYLK):c.4882G>A (p.Val1628Met)	MYLK (V1628M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 226771	NM_053025.4(MYLK):c.4842T>C (p.Asn1614=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 262289	NM_053025.4(MYLK):c.4838-3C>T	MYLK	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241761	NM_053025.4(MYLK):c.4838-7G>A	MYLK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 766038	NM_053025.4(MYLK):c.4818T>C (p.Phe1606=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +2 more	GLikely benign
Select item 262288	NM_053025.4(MYLK):c.4800G>A (p.Arg1600=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign/Likely benign
Select item 196142	NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 342870	NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 262286	NM_053025.4(MYLK):c.4710G>A (p.Ser1570=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1198038	NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu)	MYLK (S1394L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 974955	NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln)	MYLK (R1391Q +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 512816	NM_053025.4(MYLK):c.4674G>A (p.Thr1558=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1317278	NM_053025.4(MYLK):c.4620-1G>T	MYLK	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 264335	NM_053025.4(MYLK):c.4620-4G>A	MYLK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 547560	NM_053025.4(MYLK):c.4620-5C>T	MYLK	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 227625	NM_053025.4(MYLK):c.4620-6C>T	MYLK	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 262284	NM_053025.4(MYLK):c.4620-12G>A	MYLK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 262285	NM_053025.4(MYLK):c.4620-18G>A	MYLK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2577622	NM_053025.4(MYLK):c.4612C>A (p.Leu1538Met)	MYLK (L1362M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519976	NM_053025.4(MYLK):c.4602C>T (p.Ile1534=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GLikely benign
Select item 1317223	NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn)	MYLK (K1355N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1320516	NM_053025.4(MYLK):c.4571G>A (p.Cys1524Tyr)	MYLK (C1348Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 409680	NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)	MYLK (V1522A +2 more)	Single nucleotide variant (missense variant)	MYLK-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1327900	NM_053025.4(MYLK):c.4544G>A (p.Cys1515Tyr)	MYLK (C1339Y +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 1009149	NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp)	MYLK (N1338D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3364830	NM_053025.4(MYLK):c.4520G>C (p.Arg1507Pro)	MYLK (R1331P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024632	NM_053025.4(MYLK):c.4519C>T (p.Arg1507Trp)	MYLK (R1331W +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 2029504	NM_053025.4(MYLK):c.4453A>G (p.Lys1485Glu)	MYLK (K1309E +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 2501351	NM_053025.4(MYLK):c.4431G>T (p.Gln1477His)	MYLK (Q1301H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 342871	NM_053025.4(MYLK):c.4415+9A>G	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 2138934	NM_053025.4(MYLK):c.4415C>A (p.Ser1472Tyr)	MYLK (S1403Y +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 671608	NM_053025.4(MYLK):c.4404G>A (p.Glu1468=)	MYLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1315791	NM_053025.4(MYLK):c.4396A>G (p.Ile1466Val)	MYLK (I1290V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205592	NM_053025.4(MYLK):c.4362C>T (p.Ile1454=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1318873	NM_053025.4(MYLK):c.4355T>G (p.Val1452Gly)	MYLK (V1276G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 264291	NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)	MYLK (R1450Q +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 342872	NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp)	MYLK (R1450W +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 452831	NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val)	MYLK (D1448V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263899	NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)	MYLK (E1446K +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 415753	NM_053025.4(MYLK):c.4335C>T (p.Pro1445=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 981104	NM_053025.4(MYLK):c.4322-11G>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GLikely benign
Select item 226770	NM_053025.4(MYLK):c.4317T>C (p.Asp1439=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 3375599	NM_053025.4(MYLK):c.4313C>T (p.Ser1438Leu)	MYLK (S1262L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320369	NM_053025.4(MYLK):c.4303G>A (p.Val1435Met)	MYLK (V1259M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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