ClinVar for Gene (Select 4629) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3361847	NM_002474.3(MYH11):c.2470_2472delinsACT (p.Ala824Thr)	MYH11 (A824T +1 more)	Indel (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 3343591	NM_002474.3(MYH11):c.1916T>C (p.Leu639Pro)	MYH11 (L639P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341806	NM_002474.3(MYH11):c.3288G>T (p.Leu1096=)	MYH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341030	NM_002474.3(MYH11):c.3295C>A (p.Leu1099Ile)	MYH11 (L1099I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339674	NM_002474.3(MYH11):c.2653-5T>C	MYH11	Single nucleotide variant (intron variant)	not specified	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 3336166	NM_002474.3(MYH11):c.1292G>A (p.Arg431His)	MYH11 (R431H +1 more)	Single nucleotide variant (missense variant)	not specified	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 3297377	NM_002474.3(MYH11):c.1918C>T (p.Pro640Ser)	MYH11 (P647S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297376	NM_002474.3(MYH11):c.1187T>C (p.Ile396Thr)	MYH11 (I396T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297374	NM_002474.3(MYH11):c.2430G>T (p.Gln810His)	MYH11 (Q817H +1 more)	Single nucleotide variant (missense variant)	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 3297372	NM_002474.3(MYH11):c.909C>T (p.Gly303=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3297371	NM_002474.3(MYH11):c.3681G>T (p.Gln1227His)	MYH11 (Q1227H +1 more)	Single nucleotide variant (missense variant)	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 3297368	NM_002474.3(MYH11):c.818G>A (p.Arg273His)	MYH11 (R273H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297367	NM_002474.3(MYH11):c.3343G>A (p.Glu1115Lys)	MYH11 (E1122K +1 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 3297364	NM_002474.3(MYH11):c.1167G>A (p.Val389=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3297363	NM_002474.3(MYH11):c.1182A>T (p.Arg394Ser)	MYH11 (R401S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3297362	NM_002474.3(MYH11):c.2856G>A (p.Met952Ile)	MYH11 (M952I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3297361	NM_002474.3(MYH11):c.1130-4C>G	MYH11	Single nucleotide variant (intron variant)	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 3297357	NM_002474.3(MYH11):c.162G>A (p.Lys54=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3297356	NM_002474.3(MYH11):c.3289G>A (p.Ala1097Thr)	MYH11 (A1104T +1 more)	Single nucleotide variant (missense variant)	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 3297353	NM_002474.3(MYH11):c.3616G>A (p.Glu1206Lys)	MYH11 (E1206K +1 more)	Single nucleotide variant (missense variant)	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 3297349	NM_002474.3(MYH11):c.827G>C (p.Arg276Thr)	MYH11 (R283T +1 more)	Single nucleotide variant (missense variant)	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 3297347	NM_002474.3(MYH11):c.2703G>A (p.Glu901=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3253466	NM_002474.3(MYH11):c.608A>G (p.Lys203Arg)	MYH11 (K203R)	Single nucleotide variant (missense variant)	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 3251300	NM_002474.3(MYH11):c.435G>C (p.Lys145Asn)	MYH11 (K145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250666	NM_002474.3(MYH11):c.2415T>G (p.Ala805=)	MYH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3235902	NM_002474.3(MYH11):c.791-6A>G	MYH11	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	GUncertain significance
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 3222399	NM_002474.3(MYH11):c.984A>G (p.Glu328=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222398	NM_002474.3(MYH11):c.814A>G (p.Ile272Val)	MYH11 (I272V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 3222383	NM_002474.3(MYH11):c.380C>T (p.Pro127Leu)	MYH11 (P127L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222382	NM_002474.3(MYH11):c.3757AAG[2] (p.Lys1255_Lys1256del)	MYH11	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222381	NM_002474.3(MYH11):c.354T>C (p.Ser118=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222380	NM_002474.3(MYH11):c.3533T>G (p.Val1178Gly)	MYH11 (V1178G +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222379	NM_002474.3(MYH11):c.319G>C (p.Glu107Gln)	MYH11 (E107Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222378	NM_002474.3(MYH11):c.3077C>G (p.Thr1026Ser)	MYH11 (T1026S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222377	NM_002474.3(MYH11):c.3075T>C (p.Leu1025=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222375	NM_002474.3(MYH11):c.2996A>T (p.Lys999Ile)	MYH11 (K1006I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222374	NM_002474.3(MYH11):c.2617A>G (p.Asn873Asp)	MYH11 (N873D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222373	NM_002474.3(MYH11):c.2435A>T (p.Gln812Leu)	MYH11 (Q812L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222372	NM_002474.3(MYH11):c.2368A>C (p.Ile790Leu)	MYH11 (I790L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222371	NM_002474.3(MYH11):c.2072A>G (p.Asp691Gly)	MYH11 (D691G +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222370	NM_002474.3(MYH11):c.1605G>C (p.Leu535=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222369	NM_002474.3(MYH11):c.1267G>T (p.Ala423Ser)	MYH11 (A423S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222367	NM_002474.3(MYH11):c.1071A>C (p.Gly357=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3156240	NM_002474.3(MYH11):c.94G>T (p.Ala32Ser)	MYH11 (A32S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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	GUncertain significance
Select item 3156125	NM_002474.3(MYH11):c.1782G>T (p.Lys594Asn)	MYH11 (K594N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 3075429	NM_002474.3(MYH11):c.3399C>G (p.Ala1133=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075423	NM_002474.3(MYH11):c.2337G>A (p.Glu779=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3075413	NM_002474.3(MYH11):c.2520+5G>A	MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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