ClinVar for MedGen (Select 462427) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374721	NM_053025.4(MYLK):c.4289-2A>C	MYLK	Single nucleotide variant (splice acceptor variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3338114	NM_053025.4(MYLK):c.4819G>A (p.Gly1607Ser)	MYLK (G1431S +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GLikely pathogenic
Select item 3254558	NM_053025.4(MYLK):c.4217C>T (p.Ala1406Val)	MYLK (A1230V +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3246913	NC_000003.11:g.(?_123512504)_(123634585_?)dup	CCDC14, MYLK	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3246912	NC_000003.11:g.(?_123003455)_(123512688_?)dup	ADCY5, HACD2 +1 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3246911	NC_000003.11:g.(?_123471158)_(123471405_?)del	MYLK	Deletion	Aortic aneurysm, familial thoracic 7	GPathogenic
Select item 3246910	NC_000003.11:g.(?_123345645)_(123345808_?)del	MYLK	Deletion	Aortic aneurysm, familial thoracic 7	GPathogenic
Select item 3064459	NM_053025.4(MYLK):c.2311C>A (p.Leu771Ile)	MYLK (L595I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3023782	NM_053025.4(MYLK):c.574G>A (p.Val192Ile)	MYLK (V192I +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3023478	NM_053025.4(MYLK):c.4008C>A (p.Gly1336=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3023150	NM_053025.4(MYLK):c.1025C>T (p.Ser342Phe)	MYLK (S166F +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3020483	NM_053025.4(MYLK):c.3653-14C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3018684	NM_053025.4(MYLK):c.2171T>C (p.Ile724Thr)	MYLK (I655T +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 3018377	NM_053025.4(MYLK):c.2203G>A (p.Gly735Ser)	MYLK (G559S +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3017160	NM_053025.4(MYLK):c.1595del (p.Val532fs)	MYLK (V356fs +2 more)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3017009	NM_053025.4(MYLK):c.3986-19_3986-17del	MYLK	Microsatellite (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3015802	NM_053025.4(MYLK):c.3565+1G>C	MYLK	Single nucleotide variant (splice donor variant)	Aortic aneurysm, familial thoracic 7	GLikely pathogenic
Select item 3015645	NM_053025.4(MYLK):c.2222C>T (p.Ser741Phe)	MYLK (S672F +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3015546	NM_053025.4(MYLK):c.2097C>T (p.Asn699=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3015230	NM_053025.4(MYLK):c.3771G>C (p.Leu1257=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3015211	NM_053025.4(MYLK):c.3249G>A (p.Gly1083=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3013275	NM_053025.4(MYLK):c.5414C>A (p.Pro1805His)	MYLK, MYLK-AS1 (P45H +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3012389	NM_053025.4(MYLK):c.590G>A (p.Gly197Glu)	MYLK (G21E +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3012388	NM_053025.4(MYLK):c.2482T>C (p.Cys828Arg)	MYLK (C828R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3012292	NM_053025.4(MYLK):c.467G>A (p.Trp156Ter)	MYLK (W156*)	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3010914	NM_053025.4(MYLK):c.1317G>A (p.Gly439=)	MYLK	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3010220	NM_053025.4(MYLK):c.948C>T (p.Pro316=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3007138	NM_053025.4(MYLK):c.3566-20T>C	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3005589	NM_053025.4(MYLK):c.4033A>C (p.Ser1345Arg)	MYLK (S1276R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 3005588	NM_053025.4(MYLK):c.5368+13T>C	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3003893	NM_053025.4(MYLK):c.754+19C>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3003782	NM_053025.4(MYLK):c.774-18A>G	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 3002282	NM_053025.4(MYLK):c.4416-20C>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2999831	NM_053025.4(MYLK):c.387G>A (p.Lys129=)	MYLK	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2998599	NM_053025.4(MYLK):c.2351T>C (p.Val784Ala)	MYLK (V608A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2998571	NM_053025.4(MYLK):c.4794C>T (p.Gly1598=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2997532	NM_053025.4(MYLK):c.4219A>G (p.Ile1407Val)	MYLK (I1231V +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2995701	NM_053025.4(MYLK):c.4646G>A (p.Arg1549His)	MYLK (R1373H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2994907	NM_053025.4(MYLK):c.1168G>A (p.Gly390Arg)	MYLK (G390R +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2993420	NM_053025.4(MYLK):c.4961+12G>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2993246	NM_053025.4(MYLK):c.12G>A (p.Val4=)	MYLK	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2992012	NM_053025.4(MYLK):c.2612G>A (p.Gly871Glu)	MYLK (G802E +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2990759	NM_053025.4(MYLK):c.825G>A (p.Val275=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2990257	NM_053025.4(MYLK):c.3089A>G (p.Lys1030Arg)	MYLK (K1030R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2989228	NM_053025.4(MYLK):c.3120_3155dup (p.Pro1055_Asp1056insAlaGluThrLeuLysProMetGlyAsnAlaLysPro)	MYLK	Duplication (inframe_insertion)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2989199	NM_053025.4(MYLK):c.5500+18T>A	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2988458	NM_053025.4(MYLK):c.858C>T (p.Asp286=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 2987766	NM_053025.4(MYLK):c.755-20A>G	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2984536	NM_053025.4(MYLK):c.1516+19G>C	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2983831	NM_053025.4(MYLK):c.2927C>A (p.Pro976His)	MYLK (P976H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2983560	NM_053025.4(MYLK):c.2969A>G (p.Lys990Arg)	MYLK (K990R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2982421	NM_053025.4(MYLK):c.3864C>T (p.Asn1288=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2981526	NM_053025.4(MYLK):c.5238+19T>C	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2979730	NM_053025.4(MYLK):c.1693G>C (p.Val565Leu)	MYLK (V389L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2978861	NM_053025.4(MYLK):c.676G>A (p.Asp226Asn)	MYLK (D226N +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2976318	NM_053025.4(MYLK):c.511G>A (p.Val171Met)	MYLK (V171M)	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2975731	NM_053025.4(MYLK):c.1061C>A (p.Pro354Gln)	MYLK (P354Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2975309	NM_053025.4(MYLK):c.823G>A (p.Val275Met)	MYLK (V275M +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 2973116	NM_053025.4(MYLK):c.1018A>G (p.Lys340Glu)	MYLK (K164E +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2970083	NM_053025.4(MYLK):c.957G>T (p.Glu319Asp)	MYLK (E319D +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2969874	NM_053025.4(MYLK):c.655G>A (p.Glu219Lys)	MYLK (E219K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2966945	NM_053025.4(MYLK):c.373+3G>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2964921	NM_053025.4(MYLK):c.422+18A>C	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2963330	NM_053025.4(MYLK):c.984G>T (p.Ser328=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2962191	NM_053025.4(MYLK):c.5589G>A (p.Gly1863=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2962107	NM_053025.4(MYLK):c.2579G>T (p.Trp860Leu)	MYLK (W684L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2961605	NM_053025.4(MYLK):c.1981A>G (p.Asn661Asp)	MYLK (N485D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2960790	NM_053025.4(MYLK):c.884A>C (p.Lys295Thr)	MYLK (K295T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2960458	NM_053025.4(MYLK):c.773+16G>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2957461	NM_053025.4(MYLK):c.2243C>A (p.Pro748His)	MYLK (P679H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2955443	NM_053025.4(MYLK):c.3342G>A (p.Lys1114=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2955341	NM_053025.4(MYLK):c.4837+10A>G	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2955083	NM_053025.4(MYLK):c.3671A>C (p.Lys1224Thr)	MYLK (K1048T +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2919361	NM_053025.4(MYLK):c.3744G>A (p.Lys1248=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2917640	NM_053025.4(MYLK):c.1837C>T (p.Leu613=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2917448	NM_053025.4(MYLK):c.3378A>G (p.Pro1126=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2917082	NM_053025.4(MYLK):c.1420C>G (p.Leu474Val)	MYLK (L474V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2917080	NM_053025.4(MYLK):c.3653G>A (p.Ser1218Asn)	MYLK (S1218N +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2916650	NM_053025.4(MYLK):c.1608C>T (p.Ser536=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2916368	NM_053025.4(MYLK):c.2588_2596dup (p.Asp865_Gly866insGluGluAsp)	MYLK	Duplication (inframe_insertion)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2915048	NM_053025.4(MYLK):c.2330T>C (p.Phe777Ser)	MYLK (F777S +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2914405	NM_053025.4(MYLK):c.4213C>G (p.Arg1405Gly)	MYLK (R1336G +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2913854	NM_053025.4(MYLK):c.3448+11A>G	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2913843	NM_053025.4(MYLK):c.3002A>C (p.Glu1001Ala)	MYLK (E1001A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2913809	NM_053025.4(MYLK):c.5115-15C>G	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2912645	NM_053025.4(MYLK):c.4171G>A (p.Val1391Ile)	MYLK (V1215I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2912644	NM_053025.4(MYLK):c.4416-17C>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2912120	NM_053025.4(MYLK):c.864G>T (p.Leu288=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2912060	NM_053025.4(MYLK):c.4495T>A (p.Ser1499Thr)	MYLK (S1323T +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2911577	NM_053025.4(MYLK):c.4289-2dup	MYLK	Duplication (splice acceptor variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2911094	NM_053025.4(MYLK):c.5043C>T (p.Asp1681=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2910886	NM_053025.4(MYLK):c.1942+19C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2909211	NM_053025.4(MYLK):c.1516+16del	MYLK	Deletion (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2909021	NM_053025.4(MYLK):c.4289-6C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2909012	NM_053025.4(MYLK):c.2079C>A (p.Tyr693Ter)	MYLK (Y693* +2 more)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2907167	NM_053025.4(MYLK):c.396T>G (p.Gly132=)	MYLK	Single nucleotide variant (5 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2905741	NM_053025.4(MYLK):c.1954C>A (p.Pro652Thr)	MYLK (P583T +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2904730	NM_053025.4(MYLK):c.2140+3G>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2904362	NM_053025.4(MYLK):c.954G>A (p.Arg318=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2903187	NM_053025.4(MYLK):c.165+4A>G	LOC126806792, MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance

<< First< Prev

Page of 10