ClinVar for MedGen (Select 338704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061848	NM_002474.3(MYH11):c.4712C>T (p.Ala1571Val)	MYH11, NDE1 (A1571V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3023566	NM_002474.3(MYH11):c.1743_1744inv (p.Gly582Arg)	MYH11 (G582R +1 more)	Inversion (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3022652	NM_002474.3(MYH11):c.3858+18T>C	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 3020463	NM_002474.3(MYH11):c.5143G>C (p.Glu1715Gln)	MYH11, NDE1 (E1715Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3019785	NM_002474.3(MYH11):c.3823C>G (p.Arg1275Gly)	MYH11 (R1282G +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3018026	NM_002474.3(MYH11):c.4791+4C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3015110	NM_002474.3(MYH11):c.5296-20G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 3014343	NM_002474.3(MYH11):c.5295+17C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 3013283	NM_002474.3(MYH11):c.469A>G (p.Ile157Val)	MYH11 (I157V)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3013272	NM_002474.3(MYH11):c.1112C>A (p.Ser371Tyr)	MYH11 (S378Y +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3012324	NM_002474.3(MYH11):c.2657C>G (p.Thr886Ser)	MYH11 (T886S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3009764	NM_002474.3(MYH11):c.530+10A>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 3008988	NM_002474.3(MYH11):c.674T>C (p.Leu225Pro)	MYH11 (L225P +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3008345	NM_002474.3(MYH11):c.3612G>T (p.Ala1204=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 3005019	NM_002474.3(MYH11):c.2652+9A>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 3001356	NM_002474.3(MYH11):c.3121+6C>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2999359	NM_002474.3(MYH11):c.36G>T (p.Lys12Asn)	MYH11 (K12N)	Single nucleotide variant (missense variant)	MYH11-related condition +1 more	GUncertain significance
Select item 2998711	NM_002474.3(MYH11):c.1281A>G (p.Ala427=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2998171	NM_002474.3(MYH11):c.633+12T>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2995778	NM_002474.3(MYH11):c.4202T>A (p.Ile1401Asn)	MYH11, NDE1 (I1408N +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2993548	NM_002474.3(MYH11):c.2961C>A (p.Ile987=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2990696	NM_002474.3(MYH11):c.633+1894T>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2988369	NM_002474.3(MYH11):c.1950C>T (p.Phe650=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2986272	NM_002474.3(MYH11):c.1865-11G>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2985461	NM_002474.3(MYH11):c.210G>C (p.Thr70=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2985099	NM_002474.3(MYH11):c.3531G>C (p.Thr1177=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2983543	NM_002474.3(MYH11):c.1249-7_1249-6insCCCTGGTTC	MYH11	Insertion (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2981466	NM_002474.3(MYH11):c.1365G>A (p.Leu455=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2981108	NM_002474.3(MYH11):c.5280C>A (p.Arg1760=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2980470	NM_002474.3(MYH11):c.4799A>G (p.Glu1600Gly)	MYH11, NDE1 (E1607G +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2976078	NM_002474.3(MYH11):c.5385G>C (p.Lys1795Asn)	MYH11, NDE1 (K1795N +1 more)	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2974378	NM_002474.3(MYH11):c.4324C>G (p.Leu1442Val)	MYH11, NDE1 (L1449V +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2973240	NM_002474.3(MYH11):c.3561G>T (p.Thr1187=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2972697	NM_002474.3(MYH11):c.4020G>A (p.Gln1340=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2971946	NM_002474.3(MYH11):c.4104T>A (p.Thr1368=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2969836	NM_002474.3(MYH11):c.1221G>A (p.Val407=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2968931	NM_002474.3(MYH11):c.3225G>C (p.Gln1075His)	MYH11 (Q1075H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2968113	NM_002474.3(MYH11):c.3863A>C (p.Glu1288Ala)	MYH11, NDE1 (E1288A +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2967612	NM_002474.3(MYH11):c.1248+19C>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2966720	NM_002474.3(MYH11):c.369G>A (p.Val123=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2966402	NM_002474.3(MYH11):c.2387T>C (p.Met796Thr)	MYH11 (M803T +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2965396	NM_002474.3(MYH11):c.790+18C>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2964261	NM_002474.3(MYH11):c.2160C>A (p.Val720=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2962927	NM_002474.3(MYH11):c.3670A>G (p.Lys1224Glu)	MYH11 (K1224E +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2962583	NM_002474.3(MYH11):c.3293+9del	MYH11	Deletion (intron variant)	Aortic aneurysm, familial thoracic 4	GBenign
Select item 2962116	NM_002474.3(MYH11):c.1485G>A (p.Glu495=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2961697	NM_002474.3(MYH11):c.2728C>A (p.Arg910=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2960733	NM_002474.3(MYH11):c.5700C>T (p.Arg1900=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2960247	NM_002474.3(MYH11):c.3651+3_3651+15del	MYH11	Deletion (splice donor variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2959876	NM_002474.3(MYH11):c.4506C>G (p.Leu1502=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2959231	NM_002474.3(MYH11):c.1537C>T (p.Leu513=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2958700	NM_002474.3(MYH11):c.4469G>A (p.Arg1490Gln)	MYH11, NDE1 (R1490Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2958115	NM_002474.3(MYH11):c.3506+15A>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2957173	NM_002474.3(MYH11):c.148A>G (p.Ile50Val)	MYH11 (I50V)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2955029	NM_002474.3(MYH11):c.195T>C (p.Asn65=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2920558	NM_002474.3(MYH11):c.2607G>A (p.Gln869=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2920114	NM_002474.3(MYH11):c.2430G>A (p.Gln810=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2919853	NM_002474.3(MYH11):c.2029C>T (p.Arg677Cys)	MYH11 (R684C +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2919651	NM_002474.3(MYH11):c.3311C>G (p.Ala1104Gly)	MYH11 (A1104G +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2919240	NM_002474.3(MYH11):c.1805A>G (p.Asn602Ser)	MYH11 (N602S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2919206	NM_002474.3(MYH11):c.4117-13G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2919103	NM_002474.3(MYH11):c.3093G>A (p.Lys1031=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2918964	NM_002474.3(MYH11):c.1713C>T (p.Asp571=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2918461	NM_002474.3(MYH11):c.4733G>A (p.Arg1578Lys)	MYH11, NDE1 (R1585K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2917827	NM_002474.3(MYH11):c.3506+16A>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2916963	NM_002474.3(MYH11):c.4792-17CT[3]	MYH11, NDE1	Microsatellite (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2916378	NM_002474.3(MYH11):c.346-19C>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2916353	NM_002474.3(MYH11):c.2058+13G>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2916156	NM_002474.3(MYH11):c.153G>A (p.Lys51=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2915861	NM_002474.3(MYH11):c.1575+18G>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2913438	NM_002474.3(MYH11):c.3124C>A (p.Arg1042=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2913392	NM_002474.3(MYH11):c.2059-19C>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2913159	NM_002474.3(MYH11):c.1033T>C (p.Ser345Pro)	MYH11 (S352P +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2913098	NM_002474.3(MYH11):c.2731G>A (p.Val911Met)	MYH11 (V911M +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2912214	NM_002474.3(MYH11):c.4791+14G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2911960	NM_002474.3(MYH11):c.1249-14G>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2911556	NM_002474.3(MYH11):c.5314G>C (p.Glu1772Gln)	MYH11, NDE1 (E1772Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2911468	NM_002474.3(MYH11):c.4116+14del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2911445	NM_002474.3(MYH11):c.4953+19T>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2911152	NM_002474.3(MYH11):c.3432C>G (p.Leu1144=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2910862	NM_002474.3(MYH11):c.1865-4A>C	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2910503	NM_002474.3(MYH11):c.5320G>A (p.Ala1774Thr)	MYH11, NDE1 (A1774T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2909943	NM_002474.3(MYH11):c.5598G>A (p.Glu1866=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2909628	NM_002474.3(MYH11):c.345+18C>A	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2908960	NM_002474.3(MYH11):c.4578+6T>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2908496	NM_002474.3(MYH11):c.530+15T>C	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2906716	NM_002474.3(MYH11):c.4792-13A>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2906587	NM_002474.3(MYH11):c.345+4A>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2906106	NM_002474.3(MYH11):c.3271_3272delinsTT (p.Glu1091Leu)	MYH11 (E1091L +1 more)	Indel (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2905944	NM_002474.3(MYH11):c.4953+11C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2905630	NM_002474.3(MYH11):c.5082+16G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2905033	NM_002474.3(MYH11):c.4527C>G (p.Leu1509=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2904842	NM_002474.3(MYH11):c.4116+11C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2904743	NM_002474.3(MYH11):c.5461G>A (p.Ala1821Thr)	MYH11, NDE1 (A1821T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2902944	NM_002474.3(MYH11):c.4379A>G (p.Glu1460Gly)	MYH11, NDE1 (E1467G +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2902380	NM_002474.3(MYH11):c.4579-24_4579-16dup	MYH11, NDE1	Duplication (intron variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2902202	NM_002474.3(MYH11):c.136G>A (p.Glu46Lys)	MYH11 (E46K)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2901542	NM_002474.3(MYH11):c.890-20C>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2900507	NM_002474.3(MYH11):c.790+20G>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2900168	NM_002474.3(MYH11):c.633+18A>G	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign

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