ClinVar for Gene (Select 54820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370234	NM_002474.3(MYH11):c.5823G>T (p.Arg1941Ser)	MYH11, NDE1 (R1941S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3367987	NM_002474.3(MYH11):c.4962G>A (p.Met1654Ile)	MYH11, NDE1 (M1654I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366318	NC_000016.9:g.(15797981_15802659)_(15892545_15917111)del	MYH11, NDE1	Deletion	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	GLikely pathogenic
Select item 3364505	NM_002474.3(MYH11):c.5809G>A (p.Val1937Ile)	MYH11, NDE1 (V1937I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3364039	NM_002474.3(MYH11):c.4963_4965del (p.Lys1655del)	MYH11, NDE1 (K1655del +1 more)	Deletion (intron variant)	not provided	GUncertain significance
Select item 3363795	NM_002474.3(MYH11):c.5353A>C (p.Ser1785Arg)	NDE1, MYH11 (S1785R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359928	NM_017668.3(NDE1):c.644C>G (p.Thr215Arg)	NDE1 (T215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354849	NM_002474.3(MYH11):c.5212A>T (p.Ile1738Phe)	MYH11, NDE1 (I1738F +1 more)	Single nucleotide variant (missense variant +1 more)	MYH11-related disorder	GUncertain significance
Select item 3353109	NM_017668.3(NDE1):c.720C>G (p.Thr240=)	NDE1	Single nucleotide variant (synonymous variant)	NDE1-related disorder	GLikely benign
Select item 3338300	NM_017668.3(NDE1):c.224T>C (p.Leu75Pro)	NDE1 (L75P)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 3336503	NM_002474.3(MYH11):c.3921C>T (p.Ala1307=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3298955	NM_017668.3(NDE1):c.731C>T (p.Pro244Leu)	NDE1 (P244L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298954	NM_017668.3(NDE1):c.725G>C (p.Gly242Ala)	NDE1 (G242A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298953	NM_017668.3(NDE1):c.217A>G (p.Met73Val)	NDE1 (M73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297378	NM_002474.3(MYH11):c.5639A>G (p.Lys1880Arg)	MYH11, NDE1 (K1880R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297373	NM_002474.3(MYH11):c.5107C>G (p.Arg1703Gly)	MYH11, NDE1 (R1703G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297369	NM_002474.3(MYH11):c.4331C>A (p.Ser1444Tyr)	MYH11, NDE1 (D318Y +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297365	NM_002474.3(MYH11):c.5868G>A (p.Glu1956=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3297359	NM_002474.3(MYH11):c.5069T>A (p.Met1690Lys)	MYH11, NDE1 (M1697K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297358	NM_002474.3(MYH11):c.4988A>G (p.Asp1663Gly)	MYH11, NDE1 (D1663G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297355	NM_002474.3(MYH11):c.4480_4490del (p.Glu1494fs)	MYH11, NDE1 (E1494fs +1 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297352	NM_002474.3(MYH11):c.4854A>G (p.Ala1618=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3297350	NM_002474.3(MYH11):c.4959G>C (p.Gln1653His)	MYH11, NDE1 (Q1653H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297348	NM_002474.3(MYH11):c.5159G>A (p.Ser1720Asn)	MYH11, NDE1 (S1720N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3257402	NM_002474.3(MYH11):c.4792-2A>G	NDE1, MYH11	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3253204	NM_002474.3(MYH11):c.4586A>G (p.Glu1529Gly)	MYH11, NDE1 (E1529G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252263	NM_002474.3(MYH11):c.5083-17_5083-10del	MYH11, NDE1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3243619	NC_000016.9:g.(?_15758636)_(16292059_?)del	ABCC1, ABCC6 +3 more	Deletion	not provided	GPathogenic
Select item 3243437	NC_000016.9:g.(?_15797828)_(15932129_?)dup	MYH11, NDE1	Duplication	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3243436	NC_000016.9:g.(?_15802668)_(15854535_?)dup	MYH11, NDE1	Duplication	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 3242340	GRCh37/hg19 16p13.11-12.3(chr16:15477144-18244322)x2	BMERB1, ABCC1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 3242339	GRCh37/hg19 16p13.11(chr16:15124948-16290785)x1	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 3242310	GRCh37/hg19 16p13.12-13.11(chr16:14800000-16400000)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GPathogenic
Select item 3239518	NM_017668.3(NDE1):c.587C>T (p.Ser196Leu)	NDE1 (S196L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235935	GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)	ABCC1, ABCC6 +58 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3235906	GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)	ABCC1, ABCC6 +57 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3234730	NM_002474.3(MYH11):c.5799G>C (p.Glu1933Asp)	MYH11, NDE1 (E1933D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3222397	NM_002474.3(MYH11):c.5873C>A (p.Thr1958Lys)	MYH11, NDE1 (T1958K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222396	NM_002474.3(MYH11):c.5859T>A (p.Gly1953=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222395	NM_002474.3(MYH11):c.5826T>A (p.Ser1942=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222394	NM_002474.3(MYH11):c.5596G>C (p.Glu1866Gln)	MYH11, NDE1 (E1866Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222393	NM_002474.3(MYH11):c.5520C>A (p.Ala1840=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222392	NM_002474.3(MYH11):c.5413G>C (p.Glu1805Gln)	MYH11, NDE1 (E1805Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222391	NM_002474.3(MYH11):c.5354G>A (p.Ser1785Asn)	MYH11, NDE1 (S1785N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222390	NM_002474.3(MYH11):c.5031G>T (p.Glu1677Asp)	MYH11, NDE1 (E1677D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222389	NM_002474.3(MYH11):c.4896G>A (p.Gln1632=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222388	NM_002474.3(MYH11):c.4632G>T (p.Met1544Ile)	MYH11, NDE1 (M1544I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222387	NM_002474.3(MYH11):c.4545C>A (p.Asp1515Glu)	MYH11, NDE1 (D1515E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222386	NM_002474.3(MYH11):c.4507G>C (p.Glu1503Gln)	MYH11, NDE1 (E1503Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222385	NM_002474.3(MYH11):c.4107C>T (p.Leu1369=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222384	NM_002474.3(MYH11):c.3882G>A (p.Gly1294=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3185766	NM_017668.3(NDE1):c.911G>C (p.Arg304Pro)	NDE1 (R304P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185762	NM_017668.3(NDE1):c.901G>A (p.Gly301Arg)	NDE1 (G301R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185760	NM_017668.3(NDE1):c.832G>A (p.Val278Met)	NDE1 (V278M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156222	NM_002474.3(MYH11):c.5897A>C (p.Asn1966Thr)	MYH11, NDE1 (N1973T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3156218	NM_002474.3(MYH11):c.5858G>A (p.Gly1953Asp)	MYH11, NDE1 (G1953D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3156212	NM_002474.3(MYH11):c.5857G>C (p.Gly1953Arg)	MYH11, NDE1 (G1960R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3156192	NM_002474.3(MYH11):c.5449G>A (p.Ala1817Thr)	MYH11, NDE1 (A1817T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3075487	NM_002474.3(MYH11):c.5719C>G (p.Leu1907Val)	MYH11, NDE1 (L1907V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075416	NM_002474.3(MYH11):c.4620G>A (p.Gln1540=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075359	NM_002474.3(MYH11):c.4913A>T (p.Lys1638Met)	MYH11, NDE1 (K1638M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075275	NM_002474.3(MYH11):c.5199C>T (p.Arg1733=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075190	NM_002474.3(MYH11):c.5121C>A (p.Asp1707Glu)	MYH11, NDE1 (D1707E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075183	NM_002474.3(MYH11):c.5577G>C (p.Glu1859Asp)	MYH11, NDE1 (E1859D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075166	NM_002474.3(MYH11):c.4616C>T (p.Thr1539Ile)	MYH11, NDE1 (T1539I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075129	NM_002474.3(MYH11):c.5770C>T (p.Leu1924Phe)	NDE1, MYH11 (L1924F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075098	NM_002474.3(MYH11):c.5284G>C (p.Ala1762Pro)	MYH11, NDE1 (A1762P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074997	NM_002474.3(MYH11):c.4597T>C (p.Ser1533Pro)	MYH11, NDE1 (S1533P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074985	NM_001040113.2(MYH11):c.5811G>A (p.Gly1937=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074915	NM_002474.3(MYH11):c.4221G>A (p.Gln1407=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074902	NM_002474.3(MYH11):c.4784A>G (p.Gln1595Arg)	MYH11, NDE1 (Q1595R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074810	NM_002474.3(MYH11):c.4050C>G (p.Asp1350Glu)	MYH11, NDE1 (D1350E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074744	NM_002474.3(MYH11):c.5339C>A (p.Ala1780Asp)	MYH11, NDE1 (A1780D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074626	NM_002474.3(MYH11):c.5103G>C (p.Arg1701Ser)	MYH11, NDE1 (R1701S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074555	NM_002474.3(MYH11):c.5506G>C (p.Glu1836Gln)	MYH11, NDE1 (E1836Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074539	NM_002474.3(MYH11):c.5083-9C>G	NDE1, MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074525	NM_002474.3(MYH11):c.5651G>A (p.Arg1884Lys)	MYH11, NDE1 (R1884K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074483	NM_002474.3(MYH11):c.4381A>G (p.Lys1461Glu)	NDE1, MYH11 (K1461E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074323	NM_002474.3(MYH11):c.4947del (p.Lys1649fs)	NDE1, MYH11 (K1649fs +1 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074161	NM_002474.3(MYH11):c.5466G>A (p.Lys1822=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074114	NM_002474.3(MYH11):c.4654G>C (p.Glu1552Gln)	NDE1, MYH11 (E1552Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074094	NM_002474.3(MYH11):c.5385G>T (p.Lys1795Asn)	MYH11, NDE1 (K1795N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073840	NM_002474.3(MYH11):c.4954-5T>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073572	NM_002474.3(MYH11):c.5318T>C (p.Leu1773Pro)	MYH11, NDE1 (L1773P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073566	NM_002474.3(MYH11):c.3859-3T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073553	NM_002474.3(MYH11):c.4278G>A (p.Gln1426=)	MYH11, NDE1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073512	NM_002474.3(MYH11):c.4104T>C (p.Thr1368=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073482	NM_002474.3(MYH11):c.4792-12T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073460	NM_002474.3(MYH11):c.4284G>T (p.Glu1428Asp)	MYH11, NDE1 (E1428D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073418	NM_002474.3(MYH11):c.4760A>G (p.Asn1587Ser)	MYH11, NDE1 (N1587S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073331	NM_002474.3(MYH11):c.4579-13del	MYH11, NDE1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073302	NM_002474.3(MYH11):c.5729C>T (p.Ala1910Val)	NDE1, MYH11 (A1910V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073299	NM_002474.3(MYH11):c.4034G>C (p.Arg1345Pro)	MYH11, NDE1 (R1345P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073249	NM_002474.3(MYH11):c.5285C>T (p.Ala1762Val)	MYH11, NDE1 (A1762V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073218	NM_002474.3(MYH11):c.4231A>C (p.Lys1411Gln)	MYH11, NDE1 (K1411Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072950	NM_002474.3(MYH11):c.4999T>A (p.Ser1667Thr)	MYH11, NDE1 (S1667T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072857	NM_002474.3(MYH11):c.4366-6T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072831	NM_002474.3(MYH11):c.4870G>A (p.Gly1624Arg)	NDE1, MYH11 (G1624R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072791	NM_002474.3(MYH11):c.4737T>A (p.Asp1579Glu)	MYH11, NDE1 (D1579E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072722	NM_002474.3(MYH11):c.5263A>C (p.Met1755Leu)	MYH11, NDE1 (M1755L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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