C5542316[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342825	NM_053025.4(MYLK):c.*1653G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342834	NM_053025.4(MYLK):c.*1191T>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342841	NM_053025.4(MYLK):c.*945G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 902304	NM_053025.4(MYLK):c.*334C>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GUncertain significance
Select item 342860	NM_053025.4(MYLK):c.*165del	MYLK, MYLK-AS1	Deletion (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 862269	NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile)	MYLK, MYLK-AS1 (T1716I +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 937579	NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn)	MYLK, MYLK-AS1 (D1641N +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 222741	NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)	MYLK, MYLK-AS1 (R1816H +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 660173	NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)	MYLK, MYLK-AS1 (R1640C +6 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 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)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 1549949	NM_053025.4(MYLK):c.5369-20TCT[2]	MYLK, MYLK-AS1	Microsatellite (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GLikely benign
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 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)	Aortic aneurysm, familial thoracic 7 +2 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 +2 more	GUncertain significance
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)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 409703	NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala)	MYLK (G1639A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 264399	NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg)	MYLK (G1639R +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 196142	NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 262286	NM_053025.4(MYLK):c.4710G>A (p.Ser1570=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +4 more	GLikely benign
Select item 1385287	NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp)	MYLK (R1498W +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 519976	NM_053025.4(MYLK):c.4602C>T (p.Ile1534=)	MYLK	Single nucleotide variant (synonymous variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +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)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
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 1015193	NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln)	MYLK (R1304Q +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 952930	NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys)	MYLK (R1293K +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 264291	NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)	MYLK (R1450Q +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 981104	NM_053025.4(MYLK):c.4322-11G>A	MYLK	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 225287	NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)	MYLK (P1431L +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1089701	NM_053025.4(MYLK):c.4224C>T (p.Asn1408=)	MYLK	Single nucleotide variant (synonymous variant)	MYLK-related disorder +5 more	GLikely benign
Select item 415768	NM_053025.4(MYLK):c.4221C>A (p.Ile1407=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GLikely benign
Select item 1212393	NM_053025.4(MYLK):c.4214G>A (p.Arg1405His)	MYLK (R1229H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 618234	NM_053025.4(MYLK):c.4154G>A (p.Arg1385His)	MYLK (R1316H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 857511	NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys)	MYLK (R1209C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 915484	NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys)	MYLK (E1193K +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 155820	NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp)	MYLK (G1360D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 665776	NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp)	MYLK (R1168W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 539092	NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys)	MYLK (R1301C +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 519989	NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys)	MYLK (E1282K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 539089	NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg)	MYLK (Q1279R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 252772	NM_053025.4(MYLK):c.3749G>A (p.Arg1250His)	MYLK (R1250H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +4 more	GUncertain significance
Select item 547558	NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu)	MYLK (P1232L +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GUncertain significance
Select item 949233	NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala)	MYLK (P1159A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 568511	NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)	MYLK (V1213L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +4 more	GUncertain significance
Select item 403212	NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)	MYLK (V1213M +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +4 more	GUncertain significance
Select item 812045	NM_053025.4(MYLK):c.3636C>T (p.Pro1212=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +2 more	GLikely benign
Select item 263940	NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln)	MYLK (R1204Q +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 342881	NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)	MYLK (R1204W +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 899634	NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe)	MYLK (S1027F +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 652142	NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg)	MYLK (S1017R +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 520010	NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys)	MYLK (E1158K +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 968481	NM_053025.4(MYLK):c.3395C>T (p.Thr1132Met)	MYLK (T1132M +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GUncertain significance
Select item 1202450	NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu)	MYLK (Q1025L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1030108	NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu)	MYLK (G1083E +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 264565	NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)	MYLK (H1081R +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +5 more	GBenign/Likely benign
Select item 1439138	NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile)	MYLK (V1002I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 264198	NM_053025.4(MYLK):c.3183C>T (p.Ser1061=)	MYLK	Single nucleotide variant (synonymous variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more	GLikely benign
Select item 655906	NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr)	MYLK (N1058Y +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 946093	NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1])	MYLK	Deletion (inframe_deletion)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 571340	NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys)	MYLK (E1045K +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 471716	NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1])	MYLK	Deletion (inframe_deletion)	MYLK-related disorder +4 more	GUncertain significance
Select item 241757	NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala)	MYLK (P1043A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 409711	NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr)	MYLK (A1041T +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 226760	NM_053025.4(MYLK):c.3075C>T (p.Pro1025=)	MYLK	Single nucleotide variant (synonymous variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more	GBenign
Select item 409700	NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp)	MYLK (N995D +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 839041	NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu)	MYLK (D804E +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 342884	NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu)	MYLK (P979L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 900770	NM_053025.4(MYLK):c.2899G>A (p.Val967Met)	MYLK (V967M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 519968	NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys)	MYLK (R954C +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 1315987	NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln)	MYLK (R755Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1417242	NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp)	MYLK (R931W +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 660931	NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys)	MYLK (E745K +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 1063218	NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys)	MYLK (R712C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 539093	NM_053025.4(MYLK):c.2652G>A (p.Glu884=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 851490	NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys)	MYLK (R700C +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 155819	NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser)	MYLK (G866S +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 968650	NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg)	MYLK (G658R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 539095	NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys)	MYLK (E829K +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 429232	NM_053025.4(MYLK):c.2481C>G (p.Ser827Arg)	MYLK (S827R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 264351	NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)	MYLK (P825L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 504425	NM_053025.4(MYLK):c.2462+5G>A	MYLK	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 342890	NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp)	MYLK (R821W +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 861522	NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp)	MYLK (C629W +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 471710	NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys)	MYLK (E802K +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance
Select item 661651	NM_053025.4(MYLK):c.2403C>T (p.Gly801=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 452832	NM_053025.4(MYLK):c.2398G>T (p.Val800Phe)	MYLK (V800F +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 850923	NM_053025.4(MYLK):c.2386C>G (p.Leu796Val)	MYLK (L620V +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 938249	NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser)	MYLK (G721S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 519975	NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)	MYLK (D717N +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 379305	NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter)	MYLK (Q707* +2 more)	Single nucleotide variant (nonsense)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 859008	NM_053025.4(MYLK):c.2114G>A (p.Arg705His)	MYLK (R529H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 515118	NM_053025.4(MYLK):c.2070G>A (p.Thr690=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 624225	NM_053025.4(MYLK):c.2069C>T (p.Thr690Met)	MYLK (T690M +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 539074	NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)	MYLK (P687L +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 241753	NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)	MYLK (G675R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign/Likely benign
Select item 1411192	NM_053025.4(MYLK):c.1968G>C (p.Trp656Cys)	MYLK (W480C +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GUncertain significance
Select item 496662	NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg)	MYLK (P652R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 698253	NM_053025.4(MYLK):c.1839G>T (p.Leu613=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 626514	NM_053025.4(MYLK):c.1775T>C (p.Val592Ala)	MYLK (V592A +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 409697	NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu)	MYLK (P575L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance

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