4638[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ALDH1L1-AS1, ALDH1L1-AS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 342823	NM_053025.4(MYLK):c.*1809A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GBenign
Select item 342824	NM_053025.4(MYLK):c.*1671A>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 903108	NM_053025.4(MYLK):c.*1647G>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342826	NM_053025.4(MYLK):c.*1630G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342827	NM_053025.4(MYLK):c.*1576G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342828	NM_053025.4(MYLK):c.*1538A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GBenign
Select item 342829	NM_053025.4(MYLK):c.*1526C>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 899484	NM_053025.4(MYLK):c.*1519T>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342830	NM_053025.4(MYLK):c.1509_1511dup	MYLK, MYLK-AS1	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 899485	NM_053025.4(MYLK):c.*1509A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342831	NM_053025.4(MYLK):c.*1302T>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342832	NM_053025.4(MYLK):c.*1254GT[4]	MYLK, MYLK-AS1	Microsatellite (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342833	NM_053025.4(MYLK):c.*1210T>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	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 342835	NM_053025.4(MYLK):c.1174_1177dup	MYLK, MYLK-AS1	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 342836	NM_053025.4(MYLK):c.*1176del	MYLK, MYLK-AS1	Deletion (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 342837	NM_053025.4(MYLK):c.*1135G>A	MYLK-AS1, MYLK	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 899486	NM_053025.4(MYLK):c.*1134C>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 899487	NM_053025.4(MYLK):c.*1090A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 899488	NM_053025.4(MYLK):c.*1070T>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 342838	NM_053025.4(MYLK):c.*1041G>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 900621	NM_053025.4(MYLK):c.*1040G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342839	NM_053025.4(MYLK):c.*1031C>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 900622	NM_053025.4(MYLK):c.*981A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342840	NM_053025.4(MYLK):c.*960C>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	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 342842	NM_053025.4(MYLK):c.857_860dup	MYLK-AS1, MYLK	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342843	NM_053025.4(MYLK):c.*812C>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342844	NM_053025.4(MYLK):c.*802C>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342846	NM_053025.4(MYLK):c.764_765dup	MYLK-AS1, MYLK	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 342845	NM_053025.4(MYLK):c.*765dup	MYLK, MYLK-AS1	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 342847	NM_053025.4(MYLK):c.*713C>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342848	NM_053025.4(MYLK):c.*712G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342849	NM_053025.4(MYLK):c.*612C>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GBenign
Select item 342850	NM_053025.4(MYLK):c.*524C>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342851	NM_053025.4(MYLK):c.*419C>T	MYLK-AS1, MYLK	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GBenign
Select item 342852	NM_053025.4(MYLK):c.*416dup	MYLK-AS1, MYLK	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342853	NM_053025.4(MYLK):c.*406G>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GBenign
Select item 902302	NM_053025.4(MYLK):c.*404G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 902303	NM_053025.4(MYLK):c.*389G>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342854	NM_053025.4(MYLK):c.334_335insAAATGC	MYLK, MYLK-AS1	Insertion (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 342855	NM_053025.4(MYLK):c.*258G>T	MYLK-AS1, MYLK	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342856	NM_053025.4(MYLK):c.*252T>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342857	NM_053025.4(MYLK):c.*246A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342858	NM_053025.4(MYLK):c.*213T>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 342859	NM_053025.4(MYLK):c.*197T>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
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 342861	NM_053025.4(MYLK):c.*95C>G	MYLK-AS1, MYLK	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342862	NM_053025.4(MYLK):c.*77dup	MYLK, MYLK-AS1	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342864	NM_053025.4(MYLK):c.*76dup	MYLK-AS1, MYLK	Duplication (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 342863	NM_053025.4(MYLK):c.76_77insAC	MYLK, MYLK-AS1	Insertion (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 976613	NM_053025.4(MYLK):c.*73A>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 976614	NM_053025.4(MYLK):c.*54A>G	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 452981	NM_053025.4(MYLK):c.5742G>T (p.Glu1914Asp)	MYLK, MYLK-AS1 (E1914D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009254	NM_053025.4(MYLK):c.5736AGA[1] (p.Glu1914del)	MYLK, MYLK-AS1 (E153del +6 more)	Microsatellite (inframe_deletion)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 968350	NM_053025.4(MYLK):c.5741A>G (p.Glu1914Gly)	MYLK, MYLK-AS1 (E1863G +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 661165	NM_053025.4(MYLK):c.5727GGAAGA[3] (p.Glu1913_Glu1914dup)	MYLK, MYLK-AS1	Microsatellite (inframe_insertion)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 701322	NM_053025.4(MYLK):c.5736A>G (p.Glu1912=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 2801092	NM_053025.4(MYLK):c.5734G>A (p.Glu1912Lys)	MYLK, MYLK-AS1 (E152K +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 1749335	NM_053025.4(MYLK):c.5732A>T (p.Glu1911Val)	MYLK, MYLK-AS1 (E150V +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1940611	NM_053025.4(MYLK):c.5731G>T (p.Glu1911Ter)	MYLK, MYLK-AS1 (E151* +6 more)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 1514473	NM_053025.4(MYLK):c.5720_5731del (p.1905GE[1])	MYLK, MYLK-AS1	Deletion (inframe_deletion)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 1186791	NM_053025.4(MYLK):c.5720GGGAAG[1] (p.1905GE[2])	MYLK, MYLK-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2047015	NM_053025.4(MYLK):c.5715_5720del (p.1905GE[2])	MYLK, MYLK-AS1	Deletion (inframe_deletion)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 511342	NM_053025.4(MYLK):c.5715T>G (p.Gly1905=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1749196	NM_053025.4(MYLK):c.5709G>C (p.Glu1903Asp)	MYLK, MYLK-AS1 (E143D +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 749470	NM_053025.4(MYLK):c.5709G>A (p.Glu1903=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520016	NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile)	MYLK, MYLK-AS1 (M1902I +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342865	NM_053025.4(MYLK):c.5703G>A (p.Thr1901=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 582360	NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)	MYLK, MYLK-AS1 (T1901M +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1217297	NM_053025.4(MYLK):c.5697G>A (p.Val1899=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 519999	NM_053025.4(MYLK):c.5695G>A (p.Val1899Met)	MYLK, MYLK-AS1 (V1899M +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2701984	NM_053025.4(MYLK):c.5690T>G (p.Leu1897Arg)	MYLK, MYLK-AS1 (L136R +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2567254	NM_053025.4(MYLK):c.5675C>G (p.Thr1892Ser)	MYLK, MYLK-AS1 (T1892S +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 520019	NM_053025.4(MYLK):c.5673C>T (p.Ala1891=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +2 more	GLikely benign
Select item 750826	NM_053025.4(MYLK):c.5667A>G (p.Gly1889=)	MYLK-AS1, MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 1748933	NM_053025.4(MYLK):c.5664T>G (p.Leu1888=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1013217	NM_053025.4(MYLK):c.5659A>G (p.Ser1887Gly)	MYLK, MYLK-AS1 (S126G +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1039812	NM_053025.4(MYLK):c.5650G>A (p.Ala1884Thr)	MYLK, MYLK-AS1 (A124T +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 682145	NM_053025.4(MYLK):c.5649G>A (p.Lys1883=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1653126	NM_053025.4(MYLK):c.5643C>G (p.Thr1881=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 1748804	NM_053025.4(MYLK):c.5642C>T (p.Thr1881Ile)	MYLK, MYLK-AS1 (T1705I +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1407574	NM_053025.4(MYLK):c.5642C>G (p.Thr1881Ser)	MYLK, MYLK-AS1 (T120S +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 1624791	NM_053025.4(MYLK):c.5637G>A (p.Lys1879=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 520015	NM_053025.4(MYLK):c.5631T>C (p.Asp1877=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1748726	NM_053025.4(MYLK):c.5629G>T (p.Asp1877Tyr)	MYLK, MYLK-AS1 (D116Y +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2413814	NM_053025.4(MYLK):c.5628C>T (p.Asp1876=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 1748718	NM_053025.4(MYLK):c.5625T>G (p.Asp1875Glu)	MYLK-AS1, MYLK (D114E +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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