"Genome-Nilou Lab"[submitter] AND "LOC126860794"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287921	NM_017617.5(NOTCH1):c.6180+44T>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +2 more	GBenign
Select item 514089	NM_017617.5(NOTCH1):c.6180+9G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Aortic valve disease 1 +2 more	GLikely benign
Select item 513894	NM_017617.5(NOTCH1):c.6180+9G>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 510897	NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +2 more	GBenign/Likely benign
Select item 263917	NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	LOC126860794, NOTCH1 (A2044T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 415421	NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +4 more	GBenign/Likely benign
Select item 477957	NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +4 more	GBenign/Likely benign
Select item 241158	NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 507703	NM_017617.5(NOTCH1):c.6083-4G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 415418	NM_017617.5(NOTCH1):c.6083-5C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1150750	NM_017617.5(NOTCH1):c.6083-10T>G	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Aortic valve disease 1 +2 more	GBenign/Likely benign
Select item 517796	NM_017617.5(NOTCH1):c.6082+18C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 508258	NM_017617.5(NOTCH1):c.6082+10C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 509013	NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 561318	NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +4 more	GLikely benign
Select item 264290	NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GBenign/Likely benign
Select item 520053	NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GLikely benign
Select item 241157	NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 450093	NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	LOC126860794, NOTCH1 (D1994G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 477955	NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)	LOC126860794, NOTCH1 (R1991H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 264008	NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign

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Items: 21