"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129937401" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342916	NM_053025.4(MYLK):c.-197T>C	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GBenign
Select item 900982	NM_053025.4(MYLK):c.-214C>A	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342917	NM_053025.4(MYLK):c.-228C>G	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 900983	NM_053025.4(MYLK):c.-229C>T	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 900984	NM_053025.4(MYLK):c.-236C>A	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GUncertain significance
Select item 900985	NM_053025.4(MYLK):c.-260C>A	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 342918	NM_053025.4(MYLK):c.-277T>C	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 900986	NM_053025.4(MYLK):c.-279G>A	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 900987	NM_053025.4(MYLK):c.-281G>A	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 369383	NM_053025.4(MYLK):c.-288C>T	LOC129937401, MYLK	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign