"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 477871	NC_000009.11:g.(?_139390503)_(139438574_?)dup	LOC124375244, LOC126860794 +4 more	Duplication	Adams-Oliver syndrome 5	GUncertain significance
Select item 2167960	NM_017617.5(NOTCH1):c.6180+19T>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 1651923	NM_017617.5(NOTCH1):c.6180+13C>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2853375	NM_017617.5(NOTCH1):c.6180+11G>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2745342	NM_017617.5(NOTCH1):c.6180+9G>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
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 511861	NM_017617.5(NOTCH1):c.6180+8C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2038860	NM_017617.5(NOTCH1):c.6180+6C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2017088	NM_017617.5(NOTCH1):c.6180+3G>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1471790	NM_017617.5(NOTCH1):c.6180+1G>T	LOC126860794, NOTCH1	Single nucleotide variant (splice donor variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 544203	NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2586751	NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp)	LOC126860794, NOTCH1 (N2059D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2128884	NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp)	LOC126860794, NOTCH1 (N2053D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1571500	NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 477958	NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 659754	NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala)	LOC126860794, NOTCH1 (G2051A)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
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 544192	NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser)	LOC126860794, NOTCH1 (N2050S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1477785	NM_017617.5(NOTCH1):c.6147G>C (p.Lys2049Asn)	LOC126860794, NOTCH1 (K2049N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2173659	NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 1314450	NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala)	LOC126860794, NOTCH1 (V2046A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1083832	NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
Select item 426315	NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val)	LOC126860794, NOTCH1 (A2044V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2199331	NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser)	LOC126860794, NOTCH1 (A2044S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 263917	NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	LOC126860794, NOTCH1 (A2044T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 700513	NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GLikely benign
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 1496631	NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser)	LOC126860794, NOTCH1 (N2040S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1555477	NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2067842	NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser)	LOC126860794, NOTCH1 (N2039S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2193896	NM_017617.5(NOTCH1):c.6111C>A (p.Ala2037=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 544200	NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 409055	NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)	LOC126860794, NOTCH1 (A2037S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
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 954533	NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr)	LOC126860794, NOTCH1 (A2036T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 241158	NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 523602	NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg)	LOC126860794, NOTCH1 (W2034R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1104818	NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 415419	NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 1037644	NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr)	LOC126860794, NOTCH1 (A2031T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1938660	NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 695882	NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 415409	NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2195802	NM_017617.5(NOTCH1):c.6083-3C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
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 390637	NM_017617.5(NOTCH1):c.6083-15G>C	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2727695	NM_017617.5(NOTCH1):c.6083-16T>G	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1611172	NM_017617.5(NOTCH1):c.6082+19G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely 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 2721563	NM_017617.5(NOTCH1):c.6082+11G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 508258	NM_017617.5(NOTCH1):c.6082+10C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2823875	NM_017617.5(NOTCH1):c.6082+6C>G	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 1510592	NM_017617.5(NOTCH1):c.6082+6C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 645408	NM_017617.5(NOTCH1):c.6082+5G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2813245	NM_017617.5(NOTCH1):c.6082+3G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2898281	NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2200072	NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile)	LOC126860794, NOTCH1 (V2024I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 509013	NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GLikely benign
Select item 1484779	NM_017617.5(NOTCH1):c.6067G>A (p.Ala2023Thr)	LOC126860794, NOTCH1 (A2023T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2199288	NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GBenign
Select item 2157960	NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)	LOC126860794, NOTCH1 (N2022S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 796304	NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 650885	NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)	LOC126860794, NOTCH1 (V2021I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1751336	NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +1 more	GBenign/Likely benign
Select item 409043	NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)	LOC126860794, NOTCH1 (D2020N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
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 1953024	NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr)	LOC126860794, NOTCH1 (A2019T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1427536	NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln)	LOC126860794, NOTCH1 (H2018Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	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 1462732	NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr)	LOC126860794, NOTCH1 (M2010T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 477956	NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2724797	NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp)	LOC126860794, NOTCH1 (G2009D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1440102	NM_017617.5(NOTCH1):c.6025G>A (p.Gly2009Ser)	LOC126860794, NOTCH1 (G2009S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2742499	NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met)	LOC126860794, NOTCH1 (V2007M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
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 1088474	NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 652433	NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys)	LOC126860794, NOTCH1 (R2004C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2785950	NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2201779	NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met)	LOC126860794, NOTCH1 (I2000M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2442811	NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=)	NOTCH1, LOC126860794	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1622193	NM_017617.5(NOTCH1):c.5991G>A (p.Thr1997=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 241157	NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 644363	NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met)	LOC126860794, NOTCH1 (T1996M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 450093	NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	LOC126860794, NOTCH1 (D1994G)	Single nucleotide variant (missense variant)	not provided +3 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)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 576963	NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys)	LOC126860794, NOTCH1 (R1991C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
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
Select item 2845787	NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His)	LOC126860794, NOTCH1 (D1989H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 2061396	NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GBenign
Select item 2034904	NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 1415952	NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln)	LOC126860794, NOTCH1 (R1982Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2863598	NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 2164991	NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp)	LOC126860794, NOTCH1 (R1982W)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 1633216	NM_017617.5(NOTCH1):c.5935-11C>T	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2077368	NM_017617.5(NOTCH1):c.5935-19G>A	LOC126860794, NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5	GLikely benign

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Items: 98