"GeneDx"[submitter] AND "LOC126806791"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 262291	NM_053025.4(MYLK):c.5114+8G>A	LOC126806791, MYLK +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1316369	NM_053025.4(MYLK):c.5108A>C (p.Asp1703Ala)	LOC126806791, MYLK +1 more (D1527A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1316575	NM_053025.4(MYLK):c.5095C>A (p.Leu1699Met)	LOC126806791, MYLK +1 more (L1523M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1320709	NM_053025.4(MYLK):c.5092A>C (p.Asn1698His)	LOC126806791, MYLK +1 more (N1522H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 226772	NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 668225	NM_053025.4(MYLK):c.5070C>T (p.Asp1690=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 699151	NM_053025.4(MYLK):c.5067C>T (p.Ser1689=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GLikely benign
Select item 389618	NM_053025.4(MYLK):c.5055C>T (p.Phe1685=)	LOC126806791, MYLK +1 more	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1161923	NM_053025.4(MYLK):c.5016C>T (p.Asn1672=)	LOC126806791, MYLK +1 more	Single nucleotide variant (intron variant +2 more)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 262290	NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 648936	NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly)	LOC126806791, MYLK +1 more (D1666G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 513337	NM_053025.4(MYLK):c.4995C>T (p.Asn1665=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GLikely benign
Select item 1210629	NM_053025.4(MYLK):c.4983C>T (p.Phe1661=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign