"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126860 - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 514089	NM_017617.5(NOTCH1):c.6180+9G>A	NOTCH1, LOC126860794	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +3 more	GLikely benign
Select item 415421	NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related disorder +4 more	GBenign/Likely benign
Select item 477957	NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +5 more	GBenign/Likely benign
Select item 695882	NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	NOTCH1-related disorder +3 more	GLikely benign
Select item 508258	NM_017617.5(NOTCH1):c.6082+10C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	NOTCH1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 650885	NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)	LOC126860794, NOTCH1 (V2021I)	Single nucleotide variant (missense variant)	NOTCH1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 652433	NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys)	LOC126860794, NOTCH1 (R2004C)	Single nucleotide variant (missense variant)	NOTCH1-related disorder +1 more	GUncertain significance
Select item 241157	NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 576963	NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys)	NOTCH1, LOC126860794 (R1991C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity