MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Heart Valve Diseases (D006349)
..Starting node ..Aortic Valve Disease 1 (C563178)
Child Nodes:
Sister Nodes:
..Aortic Valve Disease 1 (C563178) 1
..AORTIC VALVE DISEASE 2 (OMIM:614823)
..Aortic Valve Insufficiency (D001022)
..Aortic Valve Stenosis (D001024) 32 C:2
..Bicuspid Aortic Valve (C562388)
..Cardiac Valvular Defect, Developmental (C565882)
..Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
..Heart Valve Prolapse (D016127) 12
..Mitral Valve Insufficiency (D008944) 3
..Mitral Valve Stenosis (D008946)
..Pulmonary Atresia (D018633) 2
..Pulmonary Valve Insufficiency (D011665)
..Pulmonary Valve Stenosis (D011666) 10
..Storm Syndrome (C566109)
..Tricuspid Atresia (D018785) 1
..Tricuspid Valve Insufficiency (D014262)
..Tricuspid Valve Stenosis (D014264)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

837

Name:

Aortic Valve Disease 1

Definition:

Alternative IDs:

OMIM:109730

ParentIDs:

MESH:D006330|MESH:D006349

TreeNumbers:

C14.240.400/C563178 |C14.280.400/C563178 |C14.280.484/C563178 |C16.131.240.400/C563178

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C563178
MeSH: C563178
OMIM: 109730;
MSeqDR :
Genes: NOTCH1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001650	Aortic valve stenosis
3	HP:0001647	Bicuspid aortic valve

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)	-1	ABCC6;NOMO3	Uncertain significance	-1	RCV000770943;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	16	16308351	16878729		-
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)	1289	COL5A1	Conflicting interpretations of pathogenicity	150147262	RCV000157144\|RCV000199784\|RCV000659439\|RCV001085122\|RCV002229378\|RCV002313004\|RCV003235074;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0019567,MedGen:C0268335,OMI	9	137593039	137593039	NC_000009.11:g.137593039G>T	ClinGen:CA324337	C1260873 109730 Aortic valve disorder;
GRCh37/hg19 1q42.13(chr1:228297613-228703236)	-1	covers 16 genes, none of which curated to show dos	Uncertain significance	-1	RCV000770940;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	1	228224824	228784907		-
GRCh37/hg19 22q11.21(chr22:18844632-19008108)	-1	DGCR6;PRODH;USP18	Uncertain significance	-1	RCV000770946;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	22	18656495	19016663		-
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)	-1	DPY19L1;NPSR1;TBX20	Uncertain significance	-1	RCV000770941;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	7	34899235	35269625		-
GRCh37/hg19 19p13.2(chr19:8213468-8227432)	84467	FBN3	Uncertain significance	-1	RCV000770945;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	19	8206748	8235774		-
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)	140628	GATA5	Uncertain significance	145205240	RCV000157241\|RCV001545383;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	20	61039927	61039927	20:g.61039927G>A	ClinGen:CA346359	C1260873 109730 Aortic valve disorder;
GRCh37/hg19 13q22.1(chr13:74152544-74283131)	11278	KLF12	Uncertain significance	-1	RCV000770942;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	13	74133837	74298889		-
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)	-1	LCTL;SMAD3;SMAD6;ZWILCH	Pathogenic	-1	RCV000770951;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	15	66817545	67418205		-
NM_017617.5(NOTCH1):c.*6G>A	4851	NOTCH1	Benign	73668310	RCV000406847\|RCV000770359\|RCV002270202\|RCV002270201;	N	MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390517	139390517	9:g.139390517C>T	ClinGen:CA5339630	CN169374 not specified;
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)	4851	NOTCH1	Likely benign	188270459	RCV000121695\|RCV000536903\|RCV001697074\|RCV002269864\|RCV002285141\|RCV002483223\|RCV002390272;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|Human Phenotype Ontology:HP:0002092,Human Phenotype Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedG	9	139390543	139390543	9:g.139390543T>C	ClinGen:CA161217	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)	4851	NOTCH1	Uncertain significance	761156723	RCV000770360\|RCV001855726\|RCV002271029;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390549	139390549	NC_000009.11:g.139390549C>T	-
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)	4851	NOTCH1	Likely benign	375576856	RCV000770362\|RCV001416979\|RCV002271030;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390616	139390616	NC_000009.11:g.139390616C>G	-
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=)	4851	NOTCH1	Likely benign	534623042	RCV000655288\|RCV001568613\|RCV002270882\|RCV002315085;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390622	139390622	9:g.139390622C>T	ClinGen:CA5339653	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)	4851	NOTCH1	Uncertain significance	1554826328	RCV001770555\|RCV002270888\|RCV002270889\|RCV002315093;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390623	139390623	NC_000009.11:g.139390623G>A	ClinGen:CA375625916	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)	4851	NOTCH1	Uncertain significance	1365732147	RCV000535696\|RCV001764632\|RCV002270713\|RCV002315061;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390646	139390646	9:g.139390646C>A	ClinGen:CA375625972	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)	4851	NOTCH1	Uncertain significance	763016003	RCV000705932\|RCV000788171\|RCV002270983;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390649	139390650	NC_000009.11:g.139390649_139390650del	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)	4851	NOTCH1	Benign/Likely benign	192299793	RCV000559954\|RCV001707741\|RCV002270712\|RCV002315060;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390655	139390655	9:g.139390655C>T	ClinGen:CA5339660	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)	4851	NOTCH1	Benign	34152221	RCV000226039\|RCV000611404\|RCV000769574\|RCV002270067;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390676	139390676	NC_000009.11:g.139390676A>C	ClinGen:CA5339662	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)	4851	NOTCH1	Conflicting interpretations of pathogenicity	763902589	RCV000576306\|RCV001859994\|RCV002259354\|RCV002270715\|RCV002395498;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139390693	139390693	9:g.139390693G>C	ClinGen:CA5339663	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)	4851	NOTCH1	Benign/Likely benign	375728200	RCV000459622\|RCV000610441\|RCV001721528\|RCV002270532\|RCV002313217;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390742	139390742	NC_000009.11:g.139390742C>T	ClinGen:CA5339668	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=)	4851	NOTCH1	Likely benign	772308416	RCV000866440\|RCV001170916\|RCV001824349\|RCV002270883;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390766	139390766	9:g.139390766G>A	ClinGen:CA5339672	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=)	4851	NOTCH1	Likely benign	367706382	RCV001496574\|RCV001581159\|RCV002271249\|RCV003298888;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390778	139390778	139390778	-
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	369167555	RCV000229341\|RCV000493754\|RCV002270065\|RCV002379017\|RCV003417833;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|	9	139390794	139390794	NC_000009.11:g.139390794G>A	ClinGen:CA5339679	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)	4851	NOTCH1	Benign/Likely benign	372760677	RCV000226495\|RCV001697590\|RCV002270064\|RCV002313957;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390801	139390801	NC_000009.11:g.139390801G>A	ClinGen:CA5339680	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	537210445	RCV001335848\|RCV001458130\|RCV001698048\|RCV002315934;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390804	139390804	9:g.139390804C>T	ClinGen:CA5339681	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)	4851	NOTCH1	Likely benign	369470875	RCV001697453\|RCV002063076\|RCV002270751\|RCV002498910;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390805	139390805	9:g.139390805G>A	ClinGen:CA5339682	CN169374 not specified;
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	752802795	RCV001372476\|RCV001560052\|RCV002271235;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390819	139390819	139390819	-
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)	4851	NOTCH1	Benign/Likely benign	61755043	RCV000429580\|RCV000554225\|RCV000660180\|RCV002270257\|RCV002313051;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390822	139390822	9:g.139390822G>C	ClinGen:CA5339688	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)	4851	NOTCH1	Conflicting interpretations of pathogenicity	536167222	RCV000816086\|RCV000766053\|RCV001770223\|RCV002270179\|RCV002311142;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139390828	139390828	NC_000009.11:g.139390828T>C	ClinGen:CA5339690	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=)	4851	NOTCH1	Likely benign	781520893	RCV000423806\|RCV001395243\|RCV002270433;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390835	139390835	9:g.139390835C>T	ClinGen:CA5339692	CN169374 not specified;
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)	4851	NOTCH1	Benign/Likely benign	35320927	RCV000231798\|RCV000601328\|RCV002270063\|RCV002313956;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390853	139390853	NC_000009.11:g.139390853C>T	ClinGen:CA5339694	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	199777870	RCV000768032\|RCV001584443\|RCV001855283\|RCV002270918\|RCV002315135;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139390878	139390878	NC_000009.11:g.139390878G>A	ClinGen:CA5339700	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)	4851	NOTCH1	Uncertain significance	886039031	RCV000244758\|RCV001859456\|RCV002270170;	N	MedGen:CN230736\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390880	139390880	NC_000009.11:g.139390880C>A	ClinGen:CA10587665	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)	4851	NOTCH1	Conflicting interpretations of pathogenicity	758410389	RCV001854978\|RCV002270158\|RCV002310938\|RCV003320625;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139390900	139390900	NC_000009.11:g.139390900G>A	ClinGen:CA5339705	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)	4851	NOTCH1	Benign/Likely benign	36049318	RCV000423634\|RCV000471243\|RCV002270188\|RCV002311206;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390902	139390902	9:g.139390902C>G	ClinGen:CA5339706	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)	4851	NOTCH1	Uncertain significance	370722609	RCV000228959\|RCV000788485\|RCV002270062;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390912	139390912	9:g.139390912C>T	ClinGen:CA5339707	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=)	4851	NOTCH1	Likely benign	368498380	RCV000466808\|RCV001579466\|RCV002270529\|RCV002374855;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390940	139390940	NC_000009.11:g.139390940C>T	ClinGen:CA5339711	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)	4851	NOTCH1	Conflicting interpretations of pathogenicity	762336270	RCV000680579\|RCV002066997\|RCV002270959\|RCV003150328;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390945	139390947	9:g.139390945_139390947del	-	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)	4851	NOTCH1	Benign	11574911	RCV000268202\|RCV000467212\|RCV000769575\|RCV002270206;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390958	139390958	9:g.139390958T>C	ClinGen:CA5339723	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)	4851	NOTCH1	Benign	61751486	RCV000232262\|RCV000433777\|RCV000769578\|RCV002270061;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390982	139390982	9:g.139390982C>T	ClinGen:CA5339731	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)	4851	NOTCH1	Uncertain significance	61751486	RCV000769577\|RCV001305494\|RCV001662808\|RCV002271021;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139390982	139390982	NC_000009.11:g.139390982C>G	-
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=)	4851	NOTCH1	Likely benign	756434740	RCV000605867\|RCV001404514\|RCV002270871\|RCV002377330;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139390988	139390988	9:g.139390988G>A	ClinGen:CA5339732	CN169374 not specified;
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)	4851	NOTCH1	Benign/Likely benign	374789141	RCV000863690\|RCV001404521\|RCV002271086\|RCV002372406;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391002	139391002	9:g.139391002G>A	-
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	746658493	RCV001326853\|RCV001587347\|RCV002271219;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391034	139391034	139391034	-
NM_017617.5(NOTCH1):c.7151A>G (p.Gln2384Arg)	4851	NOTCH1	Uncertain significance	1842918547	RCV001253016;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391040	139391040	9:g.139391040T>C	-
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	375119074	RCV001318488\|RCV001753737\|RCV002270186\|RCV002311186;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391041	139391041	9:g.139391041G>C	ClinGen:CA5339742	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	769693988	RCV000591716\|RCV001240610\|RCV002270716\|RCV002368007\|RCV003330813;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139391053	139391053	9:g.139391053C>T	ClinGen:CA5339744	CN169374 not specified;
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	761839390	RCV000691648\|RCV001547731\|RCV002270967\|RCV002360742;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391061	139391061	NC_000009.11:g.139391061G>A	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	369935287	RCV001658831\|RCV002271283\|RCV001882756;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139391063	139391063	139391063	-
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	373119531	RCV000529611\|RCV001575211\|RCV002270710\|RCV002315058;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391076	139391076	9:g.139391076C>T	ClinGen:CA5339750	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter)	4851	NOTCH1	Likely pathogenic	-1	RCV003319954;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391095	139391095		-
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly)	4851	NOTCH1	Likely benign	201045092	RCV000466763\|RCV001696875\|RCV002270511\|RCV002313173;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391101	139391101	NC_000009.11:g.139391101T>C	ClinGen:CA5339754	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=)	4851	NOTCH1	Likely benign	374362224	RCV000769579\|RCV001503611\|RCV002271022;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391116	139391116	NC_000009.11:g.139391116G>A	-
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=)	4851	NOTCH1	Benign/Likely benign	775336930	RCV000422810\|RCV000868330\|RCV002270455\|RCV002313135;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391144	139391144	9:g.139391144C>T	ClinGen:CA5339762	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)	4851	NOTCH1	Uncertain significance	1325758824	RCV001591391\|RCV002270897\|RCV002270898\|RCV002315102;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391158	139391158	NC_000009.11:g.139391158C>T	ClinGen:CA375629170	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=)	4851	NOTCH1	Likely benign	1342843228	RCV000540852\|RCV001564625\|RCV002270709;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391174	139391174	9:g.139391174G>A	ClinGen:CA467831950	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)	4851	NOTCH1	Uncertain significance	773134608	RCV001048112\|RCV001776105\|RCV001799033\|RCV002271173;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391175	139391175	9:g.139391175G>T	-
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)	4851	NOTCH1	Benign/Likely benign	111309246	RCV000121707\|RCV000230734\|RCV000769580\|RCV002269867;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391200	139391200	9:g.139391200C>T	ClinGen:CA161241	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	4851	NOTCH1	Conflicting interpretations of pathogenicity	751007903	RCV000420862\|RCV000701504\|RCV001198791\|RCV002374625;	N	Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:	9	139391212	139391212	9:g.139391212G>A	ClinGen:CA5339772	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=)	4851	NOTCH1	Likely benign	200814776	RCV000861985\|RCV001697462\|RCV002270771\|RCV002368055;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391216	139391216	9:g.139391216A>G	ClinGen:CA5339774	CN169374 not specified;
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)	4851	NOTCH1	Likely benign	1318983291	RCV000827621\|RCV001472312\|RCV002271056;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391225	139391225	9:g.139391225T>C	-
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=)	4851	NOTCH1	Likely benign	768457106	RCV001398795\|RCV002310953\|RCV002270162;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391231	139391231	NC_000009.11:g.139391231C>T	ClinGen:CA5339779	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)	4851	NOTCH1	Uncertain significance	1020747496	RCV000521367\|RCV000552480\|RCV002270636;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391296	139391296	9:g.139391296C>T	ClinGen:CA201633224	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)	4851	NOTCH1	Benign/Likely benign	61751488	RCV000227887\|RCV000435657\|RCV000769581\|RCV001727652\|RCV002270060;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391321	139391321	9:g.139391321G>A	ClinGen:CA5339802	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)	4851	NOTCH1	Benign/Likely benign	61751489	RCV000121704\|RCV000463376\|RCV001291517\|RCV001573999\|RCV002269866\|RCV002312816;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|Human Phenotype Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550, Orphanet:2248\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:	9	139391338	139391338	9:g.139391338C>T	ClinGen:CA161235	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=)	4851	NOTCH1	Likely benign	777957099	RCV000769582\|RCV001397551\|RCV002271023;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391339	139391339	NC_000009.11:g.139391339G>A	-
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)	4851	NOTCH1	Uncertain significance	1341934554	RCV001222420\|RCV002270924\|RCV002315143;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391340	139391340	NC_000009.11:g.139391340G>A	ClinGen:CA375630087	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=)	4851	NOTCH1	Likely benign	754675254	RCV000603924\|RCV000867446\|RCV002270742\|RCV002368047;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391369	139391369	9:g.139391369G>T	ClinGen:CA5339811	CN169374 not specified;
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	752505638	RCV000440204\|RCV000680580\|RCV001170918\|RCV001209653\|RCV002270469;	N	MedGen:CN517202\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391377	139391377	9:g.139391377G>A	ClinGen:CA5339813	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)	4851	NOTCH1	Benign/Likely benign	1367699274	RCV000840876\|RCV001453538\|RCV002271067;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391402	139391402	9:g.139391402C>G	-
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200521815	RCV000121703\|RCV000662263\|RCV001335847\|RCV001577624\|RCV002362750;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391403	139391403	9:g.139391403C>T	ClinGen:CA161233	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=)	4851	NOTCH1	Likely benign	749536941	RCV001491354\|RCV001697506\|RCV002270781\|RCV002368069;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391408	139391408	9:g.139391408G>A	ClinGen:CA5339818	CN169374 not specified;
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)	4851	NOTCH1	Uncertain significance	768817065	RCV001368863\|RCV002271233\|RCV002368192\|RCV001799764;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139391410	139391410	139391410	-
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)	4851	NOTCH1	Benign	61751490	RCV000177800\|RCV000234317\|RCV000769583\|RCV002269961;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391414	139391414	9:g.139391414A>G	ClinGen:CA202633	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	759225800	RCV001341249\|RCV001762570\|RCV002271222;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391424	139391424	139391424	-
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=)	4851	NOTCH1	Likely benign	542875894	RCV001855280\|RCV002270900\|RCV002315104;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391438	139391438	9:g.139391438G>A	ClinGen:CA5339826	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)	4851	NOTCH1	Uncertain significance	777809068	RCV001756556\|RCV002271289\|RCV002032770\|RCV003382635;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391442	139391442	139391442	-
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	369457922	RCV000457692\|RCV002496769;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391446	139391446	NC_000009.11:g.139391446C>T	ClinGen:CA5339831	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)	4851	NOTCH1	Likely benign	372771288	RCV000680582\|RCV000769584\|RCV000842227\|RCV001469649\|RCV002270872;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391447	139391447	NC_000009.11:g.139391447G>A	ClinGen:CA5339832	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)	4851	NOTCH1	Uncertain significance	372771288	RCV001306243\|RCV001760364\|RCV002271212\|RCV002375376;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391447	139391447	139391447	-
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr)	4851	NOTCH1	Uncertain significance	1554826464	RCV001226693\|RCV002270919\|RCV002315136;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391448	139391448	NC_000009.11:g.139391448T>G	ClinGen:CA375630429	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)	4851	NOTCH1	Likely benign	377165086	RCV000842270\|RCV002068613\|RCV002271074\|RCV003150361;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391452	139391452	9:g.139391452G>A	-
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	377165086	RCV001296857\|RCV001760339\|RCV002271208;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391452	139391452	139391452	-
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=)	4851	NOTCH1	Benign/Likely benign	201499253	RCV000527828\|RCV001591307\|RCV002270708\|RCV002377195;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391477	139391477	9:g.139391477G>A	ClinGen:CA5339839	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)	4851	NOTCH1	Likely benign	202096917	RCV000467175\|RCV001311043\|RCV001701928\|RCV001798762\|RCV002270195;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391506	139391506	9:g.139391506C>T	ClinGen:CA5339843	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=)	4851	NOTCH1	Likely benign	202229687	RCV000551815\|RCV000841268\|RCV002270707\|RCV002315057;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391525	139391525	9:g.139391525C>T	ClinGen:CA5339849	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)	4851	NOTCH1	Benign	3812596	RCV000357259\|RCV000461829\|RCV000769585\|RCV002270209\|RCV003114452;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139391543	139391543	9:g.139391543C>T	ClinGen:CA5339855	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=)	4851	NOTCH1	Likely benign	370606059	RCV000466065\|RCV001697607\|RCV002310980\|RCV002270171;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391555	139391555	NC_000009.11:g.139391555G>A	ClinGen:CA5339860	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=)	4851	NOTCH1	Benign/Likely benign	374640663	RCV000866749\|RCV001704743\|RCV002315909\|RCV002270754;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391594	139391594	9:g.139391594G>C	ClinGen:CA5339862	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=)	4851	NOTCH1	Likely benign	374640663	RCV002060679\|RCV002270903\|RCV002315109;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391594	139391594	NC_000009.11:g.139391594G>A	ClinGen:CA467832124	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)	4851	NOTCH1	Uncertain significance	761562076	RCV000227496\|RCV002270058\|RCV002313955;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391598	139391598	9:g.139391598G>A	ClinGen:CA5339864	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	376422513	RCV000438766\|RCV001861639\|RCV002270478\|RCV002374721;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391608	139391608	9:g.139391608C>T	ClinGen:CA5339868	CN169374 not specified;
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=)	4851	NOTCH1	Benign/Likely benign	200853719	RCV000418936\|RCV000868655\|RCV002270435\|RCV002374696;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391609	139391609	9:g.139391609G>A	ClinGen:CA5339869	CN169374 not specified;
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1060502236	RCV000472324\|RCV001798837\|RCV001726177\|RCV002270496;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391614	139391614	NC_000009.11:g.139391614T>C	ClinGen:CA16612810	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=)	4851	NOTCH1	Likely benign	200630233	RCV000534494\|RCV000840854\|RCV002270706\|RCV002367970;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391621	139391621	9:g.139391621C>G	ClinGen:CA5339871	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=)	4851	NOTCH1	Likely benign	1037034230	RCV000465080\|RCV001731704\|RCV002270537\|RCV002367597;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391623	139391623	NC_000009.11:g.139391623G>A	ClinGen:CA16612715	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)	4851	NOTCH1	Benign	2229974	RCV000313125\|RCV000607860\|RCV001519881\|RCV002314018;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391636	139391636	9:g.139391636G>A	ClinGen:CA5339874	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	761602495	RCV000692256\|RCV000493215\|RCV000766054\|RCV002270161\|RCV002310951;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139391670	139391670	NC_000009.11:g.139391670T>C	ClinGen:CA5339880	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	201518848	RCV000727124\|RCV001058437\|RCV001335846\|RCV001535474\|RCV002367728\|RCV002481696;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0003803,MedGen:C1260873\|MONDO:MONDO:0019625,MedGen:C470	9	139391710	139391710	NC_000009.11:g.139391710G>A	ClinGen:CA5339890
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)	4851	NOTCH1	Benign/Likely benign	116317506	RCV000121699\|RCV000470160\|RCV000769587\|RCV002269865;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391737	139391737	9:g.139391737C>G	ClinGen:CA161225	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)	4851	NOTCH1	Benign/Likely benign	377302245	RCV001170920\|RCV002067841\|RCV002271187\|RCV001725215;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139391738	139391738	9:g.139391738G>A	-
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)	4851	NOTCH1	Benign/Likely benign	369845924	RCV000533845\|RCV000680583\|RCV001170921\|RCV001579856\|RCV002270185;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391762	139391762	9:g.139391762G>A	ClinGen:CA5339902	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)	4851	NOTCH1	Uncertain significance	767822693	RCV000208147\|RCV000804474\|RCV002270024;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391769	139391769	9:g.139391769G>A	ClinGen:CA077275	CN118826 Thoracic aortic aneurysm and aortic dissection;
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=)	4851	NOTCH1	Likely benign	933773128	RCV001462215\|RCV001577767\|RCV002271244\|RCV003298803;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391783	139391783	139391783	-
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)	4851	NOTCH1	Benign/Likely benign	61733294	RCV000417730\|RCV000475797\|RCV000769588\|RCV002270196;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391794	139391794	NC_000009.11:g.139391794G>A	ClinGen:CA5339910	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr)	4851	NOTCH1	Uncertain significance	61733294	RCV001205231\|RCV001546821\|RCV002271192;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391794	139391794	9:g.139391794G>T	-
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)	4851	NOTCH1	Benign/Likely benign	554843595	RCV000862398\|RCV001721451\|RCV002270468\|RCV002313143\|RCV003323542;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139391795	139391795	9:g.139391795C>G	ClinGen:CA5339912	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	770713134	RCV001236732\|RCV002271198\|RCV001587265\|RCV002357013;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391808	139391808	9:g.139391808G>A	-
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)	4851	NOTCH1	Benign/Likely benign	369009290	RCV000441158\|RCV000467879\|RCV001170922\|RCV002270462;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391816	139391816	9:g.139391816G>A	ClinGen:CA5339920	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=)	4851	NOTCH1	Likely benign	762003410	RCV000602243\|RCV001472319\|RCV002270769\|RCV002368054;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391825	139391825	9:g.139391825C>T	ClinGen:CA5339921	CN169374 not specified;
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=)	4851	NOTCH1	Benign/Likely benign	61751533	RCV000557525\|RCV001696762\|RCV002270486\|RCV002365571;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391828	139391828	9:g.139391828G>A	ClinGen:CA5339923	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)	4851	NOTCH1	Pathogenic	1057518661	RCV000414999;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139391843	139391843	NC_000009.11:g.139391843G>C	ClinGen:CA16043671	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=)	4851	NOTCH1	Likely benign	532201830	RCV000655278\|RCV001467918\|RCV002270948\|RCV002360671;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391870	139391870	9:g.139391870G>A	ClinGen:CA5339935	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)	4851	NOTCH1	Benign/Likely benign	777111928	RCV000475768\|RCV001430871\|RCV002270546\|RCV002367598;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391897	139391897	NC_000009.11:g.139391897G>A	ClinGen:CA5339943	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)	4851	NOTCH1	Uncertain significance	756874994	RCV001756010\|RCV002270887\|RCV002270886\|RCV002315092;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391907	139391907	NC_000009.11:g.139391907C>A	ClinGen:CA375632064	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	780873661	RCV000494409\|RCV001301819\|RCV002270590\|RCV002356809;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391908	139391908	9:g.139391908G>A	ClinGen:CA5339951	CN169374 not specified;
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	768543030	RCV001920938\|RCV002491881\|RCV002359415\|RCV003442959;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139391931	139391931	139391931	-
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=)	4851	NOTCH1	Benign/Likely benign	531156367	RCV000864589\|RCV001514004\|RCV002270174\|RCV002311112;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391963	139391963	9:g.139391963G>A	ClinGen:CA5339962	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	549258808	RCV000827503\|RCV002067456\|RCV002271055\|RCV002363182;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391968	139391968	9:g.139391968C>T	-
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=)	4851	NOTCH1	Benign/Likely benign	764551640	RCV000473394\|RCV001697606\|RCV002270169\|RCV002310971;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391969	139391969	9:g.139391969G>A	ClinGen:CA5339965	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	567909904	RCV000208466\|RCV001060006\|RCV001509385\|RCV002270023\|RCV002363043\|RCV002500668\|RCV003401116;	N	MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,O	9	139391986	139391986	9:g.139391986C>T	ClinGen:CA353686	C0024796 154700 Marfan syndrome;
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=)	4851	NOTCH1	Likely benign	767118276	RCV000609670\|RCV002066600\|RCV002270855\|RCV002368102;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139391987	139391987	9:g.139391987G>A	ClinGen:CA5339967	CN169374 not specified;
NM_017617.5(NOTCH1):c.6180+44T>C	4851	NOTCH1	Benign	9632944	RCV001711048\|RCV001785835\|RCV001785834;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393307	139393307	139393307	-
NM_017617.5(NOTCH1):c.6180+9G>T	4851	NOTCH1	Likely benign	200371378	RCV000600908\|RCV000655297\|RCV002270831;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393342	139393342	9:g.139393342C>A	ClinGen:CA658797364	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6180+9G>A	4851	NOTCH1	Likely benign	200371378	RCV000610893\|RCV000655300\|RCV002270834;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393342	139393342	9:g.139393342C>T	ClinGen:CA5339999	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)	4851	NOTCH1	Benign/Likely benign	757372588	RCV001445651\|RCV001718916\|RCV002270780;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393381	139393381	9:g.139393381G>A	ClinGen:CA5340007	CN169374 not specified;
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	544856644	RCV000242723\|RCV001210978\|RCV001579834\|RCV002270154;	N	MedGen:CN230736\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393401	139393401	NC_000009.11:g.139393401C>T	ClinGen:CA5340011	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)	4851	NOTCH1	Benign/Likely benign	201625763	RCV000463857\|RCV001707703\|RCV002270541;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393411	139393411	NC_000009.11:g.139393411A>G	ClinGen:CA5340014	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)	4851	NOTCH1	Uncertain significance	1060502237	RCV000468389\|RCV000709944;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393422	139393422	NC_000009.11:g.139393422C>A	ClinGen:CA16612673
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)	4851	NOTCH1	Benign/Likely benign	369167693	RCV000556881\|RCV001591306\|RCV002270705\|RCV002358628\|RCV003330797;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139393423	139393423	9:g.139393423G>A	ClinGen:CA5340017	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	4851	NOTCH1	Benign/Likely benign	188357478	RCV000233274\|RCV001170923\|RCV001579505\|RCV002270056\|RCV003323470;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139393426	139393426	NC_000009.11:g.139393426G>A	ClinGen:CA5340019	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6083-4G>A	4851	NOTCH1	Benign/Likely benign	570242146	RCV000609160\|RCV001580037\|RCV002062991\|RCV002270741;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393452	139393452	9:g.139393452C>T	ClinGen:CA5340024	CN169374 not specified;
NM_017617.5(NOTCH1):c.6083-5C>T	4851	NOTCH1	Likely benign	199786076	RCV000475214\|RCV001551583\|RCV002270539;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393453	139393453	NC_000009.11:g.139393453G>A	ClinGen:CA5340025	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6083-10T>G	4851	NOTCH1	Benign/Likely benign	1380449680	RCV001491471\|RCV002271247\|RCV001575463;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139393458	139393458	139393458	-
NM_017617.5(NOTCH1):c.6082+18C>T	4851	NOTCH1	Likely benign	200956958	RCV000605283\|RCV002066849\|RCV002270865;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393546	139393546	9:g.139393546G>A	ClinGen:CA5340042	CN169374 not specified;
NM_017617.5(NOTCH1):c.6082+10C>T	4851	NOTCH1	Likely benign	114120958	RCV000607877\|RCV001445204\|RCV002270749\|RCV001798918;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393554	139393554	9:g.139393554G>A	ClinGen:CA5340046	CN169374 not specified;
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)	4851	NOTCH1	Likely benign	375920679	RCV001454557\|RCV001707754\|RCV002270765\|RCV003160085;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393577	139393577	9:g.139393577G>A	ClinGen:CA5340048	CN169374 not specified;
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	752928106	RCV000469574\|RCV002481433;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393588	139393588	9:g.139393588C>T	ClinGen:CA5340053	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)	4851	NOTCH1	Likely benign	758702512	RCV000680585\|RCV000865331\|RCV001549628\|RCV002270960\|RCV003343986;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393589	139393589	9:g.139393589G>A	-	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)	4851	NOTCH1	Benign/Likely benign	202198360	RCV000875245\|RCV002270176\|RCV002311126;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393592	139393592	NC_000009.11:g.139393592G>A	ClinGen:CA5340057	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)	4851	NOTCH1	Likely benign	748935957	RCV002060677\|RCV002270891\|RCV002315098;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393628	139393628	NC_000009.11:g.139393628G>A	ClinGen:CA5340062	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	4851	NOTCH1	Benign/Likely benign	186453356	RCV000229557\|RCV000293191\|RCV000660175\|RCV001726067\|RCV002270055\|RCV002313954;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393658	139393658	NC_000009.11:g.139393658C>T	ClinGen:CA5340066	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1454512890	RCV000519774\|RCV000531729\|RCV002270628;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393665	139393665	9:g.139393665T>C	ClinGen:CA375634735	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1371022203	RCV000555969\|RCV001563587;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393674	139393674	9:g.139393674C>T	ClinGen:CA375634790	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)	4851	NOTCH1	Benign/Likely benign	73668311	RCV000862614\|RCV001551863\|RCV002270163\|RCV002310955;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139393679	139393679	NC_000009.11:g.139393679A>G	ClinGen:CA5340069	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)	4851	NOTCH1	Pathogenic	1554826746	RCV000623489\|RCV001849412\|RCV003444001;	N	MeSH:D030342,MedGen:C0950123\|\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393696	139393696	9:g.139393696G>A	ClinGen:CA375634921	C0950123 Inborn genetic diseases;
NM_017617.5(NOTCH1):c.3171+1_5935-1del	4851	NOTCH1	Likely pathogenic	-1	RCV002071035;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139393712	139403321	139393711	-
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)	4851	NOTCH1	Uncertain significance	-1	RCV003333458;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395015	139395015		-
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)	4851	NOTCH1	Likely benign	1045892978	RCV000554819\|RCV001662609\|RCV002270703\|RCV002358627;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395022	139395022	9:g.139395022G>A	ClinGen:CA201638468	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=)	4851	NOTCH1	Likely benign	769135138	RCV001399210\|RCV001707759\|RCV002270770\|RCV002358688;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395046	139395046	9:g.139395046C>T	ClinGen:CA5340111	CN169374 not specified;
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=)	4851	NOTCH1	Likely benign	373902356	RCV000875159\|RCV001593101\|RCV002271100;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395085	139395085	9:g.139395085G>A	-
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)	4851	NOTCH1	Uncertain significance	897872809	RCV000788742\|RCV001345011\|RCV002271038;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395119	139395119	9:g.139395119C>T	-
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=)	4851	NOTCH1	Benign/Likely benign	774693459	RCV000421759\|RCV001415209\|RCV002270451\|RCV003380562;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395133	139395133	9:g.139395133G>A	ClinGen:CA5340123	CN169374 not specified;
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)	4851	NOTCH1	Conflicting interpretations of pathogenicity	773571672	RCV000525662\|RCV001335845;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395154	139395154	9:g.139395154G>A	ClinGen:CA5340128	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=)	4851	NOTCH1	Likely benign	367587437	RCV000655286\|RCV001584516\|RCV002270949\|RCV002352065;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395157	139395157	9:g.139395157C>T	ClinGen:CA5340129	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	199652954	RCV000429642\|RCV000792055\|RCV002270183\|RCV002311169;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395162	139395162	NC_000009.11:g.139395162G>A	ClinGen:CA5340132	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)	4851	NOTCH1	Benign/Likely benign	61751534	RCV001170924\|RCV001721383\|RCV002270429\|RCV002270430;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139395205	139395205	9:g.139395205G>A	ClinGen:CA5340137	CN169374 not specified;
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)	4851	NOTCH1	Benign/Likely benign	555773558	RCV001570229\|RCV001799104\|RCV002271266\|RCV002501918\|RCV002271267;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:001	9	139395214	139395214	139395214	-
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)	4851	NOTCH1	Benign/Likely benign	369730620	RCV000463751\|RCV001698283\|RCV002270432\|RCV002348224;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395220	139395220	9:g.139395220C>T	ClinGen:CA5340141	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=)	4851	NOTCH1	Likely benign	748200129	RCV000839775\|RCV002270053\|RCV002270054\|RCV002347909;	N	MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139395223	139395223	9:g.139395223G>A	ClinGen:CA5340145	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	746237272	RCV000687731\|RCV002310923\|RCV002270157;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395248	139395248	NC_000009.11:g.139395248G>A	ClinGen:CA5340151	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)	4851	NOTCH1	Benign	2229973	RCV000231737\|RCV000438044\|RCV002270052\|RCV002313953\|RCV002500805;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139395259	139395259	9:g.139395259G>A	ClinGen:CA5340154	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=)	4851	NOTCH1	Benign/Likely benign	763584589	RCV000230010\|RCV001171093\|RCV001697265\|RCV002270051\|RCV003330600;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139395262	139395262	9:g.139395262C>T	ClinGen:CA5340155	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)	4851	NOTCH1	Uncertain significance	761427888	RCV001263415\|RCV001577372\|RCV002271201\|RCV002271200;	N	Human Phenotype Ontology:HP:0001028,Human Phenotype Ontology:HP:0007444,MONDO:MONDO:0006500,MedGen:C0018916\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395264	139395264	9:g.139395264C>T	-
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)	4851	NOTCH1	Benign/Likely benign	2229972	RCV000461148\|RCV001697732\|RCV002270165\|RCV002310963\|RCV003323480;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139395265	139395265	9:g.139395265G>A	ClinGen:CA5340158	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)	4851	NOTCH1	Uncertain significance	750185397	RCV001335844;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395277	139395277	139395277	-
NM_017617.5(NOTCH1):c.5639-12C>T	4851	NOTCH1	Benign	11574908	RCV000269079\|RCV001517577\|RCV002270210;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139395311	139395311	9:g.139395311G>A	ClinGen:CA5340167	CN169374 not specified;
NM_017617.5(NOTCH1):c.5638+19A>G	4851	NOTCH1	Likely benign	368675083	RCV000421270\|RCV001579656\|RCV002063648\|RCV002270491;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396181	139396181	9:g.139396181T>C	ClinGen:CA5340190	CN169374 not specified;
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=)	4851	NOTCH1	Likely benign	35627681	RCV000863444\|RCV001551725\|RCV001798994\|RCV002271083;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396207	139396207	9:g.139396207G>A	-
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=)	4851	NOTCH1	Likely benign	767493892	RCV001799356\|RCV001885233\|RCV002271306\|RCV002271305;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396243	139396243	139396243	-
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	779337715	RCV000698240\|RCV001788302\|RCV002270920\|RCV002315138;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396266	139396266	9:g.139396266T>G	ClinGen:CA5340207	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)	4851	NOTCH1	Uncertain significance	376689092	RCV000825407\|RCV000814127\|RCV002270911\|RCV002315123;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396278	139396278	NC_000009.11:g.139396278G>A	ClinGen:CA5340211	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=)	4851	NOTCH1	Likely benign	374451515	RCV000468933\|RCV001171094\|RCV001721529\|RCV002270533;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396288	139396288	NC_000009.11:g.139396288G>A	ClinGen:CA5340214	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	35652719	RCV001353368\|RCV001366341;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139396296	139396296	139396296	-
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)	4851	NOTCH1	Benign/Likely benign	73668312	RCV000524749\|RCV001580093\|RCV002270166\|RCV002310964\|RCV003330612;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139396338	139396338	9:g.139396338G>A	ClinGen:CA5340221	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1425070721	RCV001763680\|RCV001868565\|RCV002271296;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396343	139396343	139396343	-
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro)	4851	NOTCH1	Uncertain significance	1085307869	RCV000489091\|RCV000655224\|RCV002270586\|RCV002350089;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396346	139396346	9:g.139396346A>G	ClinGen:CA375639517	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	374103443	RCV001244560\|RCV001796412\|RCV002271199\|RCV002348832;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396362	139396362	9:g.139396362C>T	-
NM_017617.5(NOTCH1):c.5473-43T>C	4851	NOTCH1	Benign	3124594	RCV000838168\|RCV001785742\|RCV001785741;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396408	139396408	9:g.139396408A>G	-
NM_017617.5(NOTCH1):c.5472+19G>C	4851	NOTCH1	Benign/Likely benign	755674060	RCV000606795\|RCV000680586\|RCV002062893\|RCV002270734;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396434	139396434	9:g.139396434C>G	ClinGen:CA5340253	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val)	4851	NOTCH1	Uncertain significance	1064796983	RCV000484133\|RCV000662262\|RCV002270583\|RCV002313260;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396473	139396473	9:g.139396473G>C	ClinGen:CA16618801	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)	4851	NOTCH1	Benign/Likely benign	61751535	RCV000535931\|RCV000599705\|RCV002270702\|RCV002315056;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396480	139396480	9:g.139396480G>A	ClinGen:CA5340265	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	755659037	RCV001202314\|RCV002270913\|RCV002315126;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396487	139396487	9:g.139396487C>A	ClinGen:CA5340270	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)	4851	NOTCH1	Uncertain significance	1843005523	RCV001195758;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396495	139396495	9:g.139396495C>G	-
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	571739078	RCV001944962\|RCV002343923\|RCV002478160;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139396503	139396503	139396503	-
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=)	4851	NOTCH1	Likely benign	376590737	RCV000475470\|RCV001702483\|RCV002270444;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396504	139396504	9:g.139396504G>A	ClinGen:CA5340275	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)	4851	NOTCH1	Uncertain significance	114479009	RCV000706747\|RCV001798967\|RCV002270986\|RCV002507239;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C401	9	139396509	139396509	9:g.139396509T>C	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)	4851	NOTCH1	Conflicting interpretations of pathogenicity	201779159	RCV000594908\|RCV000655262\|RCV002315892\|RCV002270717\|RCV002285163\|RCV003403396;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|Human Phenotype Ontology:HP:0002092,Human Phenotype Ontology:HP	9	139396511	139396511	9:g.139396511A>G	ClinGen:CA5340279	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)	4851	NOTCH1	Conflicting interpretations of pathogenicity	775497405	RCV001364904\|RCV001762630\|RCV002271231;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396512	139396512	139396512	-
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=)	4851	NOTCH1	Benign/Likely benign	201358664	RCV000457227\|RCV001467492\|RCV002270540\|RCV002313220;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396522	139396522	NC_000009.11:g.139396522T>C	ClinGen:CA5340283	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	569203312	RCV001219139\|RCV002270876\|RCV002315076;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139396527	139396527	NC_000009.11:g.139396527C>T	ClinGen:CA5340286	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5385-18C>T	4851	NOTCH1	Benign/Likely benign	370602147	RCV000611023\|RCV002270773\|RCV002063259;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139396558	139396558	9:g.139396558G>A	ClinGen:CA5340297	CN169374 not specified;
NM_017617.5(NOTCH1):c.5384+14G>A	4851	NOTCH1	Likely benign	755122664	RCV000601757\|RCV002063126\|RCV002270762;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396710	139396710	9:g.139396710C>T	ClinGen:CA5340319	CN169374 not specified;
NM_017617.5(NOTCH1):c.5384+13C>T	4851	NOTCH1	Benign	112582298	RCV000611219\|RCV002062184\|RCV002270725;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396711	139396711	9:g.139396711G>A	ClinGen:CA5340320	CN169374 not specified;
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp)	4851	NOTCH1	Uncertain significance	1356199208	RCV000558986\|RCV001770496\|RCV002270701;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396824	139396824	NC_000009.11:g.139396824G>A	ClinGen:CA375640729	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	373841359	RCV000805845\|RCV001171095\|RCV002271045\|RCV002464326;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202	9	139396835	139396835	9:g.139396835C>T	-
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	368396893	RCV001066947\|RCV001847146\|RCV002271181;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396860	139396860	9:g.139396860C>T	-
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)	4851	NOTCH1	Benign	116316039	RCV000228130\|RCV000420932\|RCV000769592\|RCV001723824\|RCV002270050;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396882	139396882	9:g.139396882G>A	ClinGen:CA5340352	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)	4851	NOTCH1	Uncertain significance	864622062	RCV000205238\|RCV002270014;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396890	139396890	NC_000009.11:g.139396890C>A	ClinGen:CA349421	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	375897519	RCV000469842\|RCV000766055\|RCV001171097\|RCV001551722\|RCV003392282;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|	9	139396919	139396919	NC_000009.11:g.139396919G>A	ClinGen:CA5340369	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=)	4851	NOTCH1	Likely benign	760548371	RCV000614465\|RCV001452604\|RCV002333992\|RCV002270828;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396924	139396924	9:g.139396924C>T	ClinGen:CA5340370	CN169374 not specified;
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)	4851	NOTCH1	Benign/Likely benign	61751536	RCV000206483\|RCV000431633\|RCV000769593\|RCV001579878\|RCV002270016;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396933	139396933	NC_000009.11:g.139396933G>A	ClinGen:CA350509	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5168-5C>T	4851	NOTCH1	Benign/Likely benign	757370134	RCV000613369\|RCV000660172\|RCV001456765\|RCV002270848;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396945	139396945	9:g.139396945G>A	ClinGen:CA5340375	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.5168-7C>T	4851	NOTCH1	Likely benign	1589056781	RCV000827447\|RCV002067454\|RCV002271054;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396947	139396947	9:g.139396947G>A	-
NM_017617.5(NOTCH1):c.5168-10G>A	4851	NOTCH1	Benign	199903655	RCV000176887\|RCV000234280\|RCV000769594\|RCV002269953;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139396950	139396950	9:g.139396950C>T	ClinGen:CA202164	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=)	4851	NOTCH1	Likely benign	780625273	RCV000616934\|RCV001456391\|RCV002270789;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397641	139397641	9:g.139397641G>A	ClinGen:CA5340433	CN169374 not specified;
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	750085425	RCV001767064\|RCV002271293\|RCV001882862;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139397646	139397646	139397646	-
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)	4851	NOTCH1	Benign/Likely benign	35980907	RCV000230290\|RCV000430521\|RCV000660171\|RCV000769595\|RCV001723823\|RCV002270049\|RCV002500804;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO	9	139397677	139397677	NC_000009.11:g.139397677C>A	ClinGen:CA5340437	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)	4851	NOTCH1	Likely benign	35980907	RCV000862578\|RCV002270873\|RCV002315070;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139397677	139397677	NC_000009.11:g.139397677C>T	ClinGen:CA5340438	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=)	4851	NOTCH1	Likely benign	747037396	RCV000608242\|RCV000655285\|RCV002270809\|RCV002333989;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139397683	139397683	9:g.139397683G>A	ClinGen:CA5340440	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)	4851	NOTCH1	Likely benign	776610176	RCV000828009\|RCV001078670\|RCV002270700\|RCV002315054;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139397698	139397698	9:g.139397698T>C	ClinGen:CA5340442	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=)	4851	NOTCH1	Likely benign	376495459	RCV000605172\|RCV000893329\|RCV002315926\|RCV002270800;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397701	139397701	9:g.139397701G>A	ClinGen:CA5340443	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)	4851	NOTCH1	Benign	10521	RCV000434401\|RCV000613771\|RCV001510321\|RCV002313080;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139397707	139397707	9:g.139397707G>A	ClinGen:CA5340444	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)	4851	NOTCH1	Uncertain significance	1417478070	RCV001323610\|RCV002270885\|RCV002315091;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139397709	139397709	9:g.139397709C>T	ClinGen:CA375642218	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)	4851	NOTCH1	Benign/Likely benign	61751538	RCV000227744\|RCV000418388\|RCV000660170\|RCV001171098\|RCV001579392\|RCV002270048;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397728	139397728	NC_000009.11:g.139397728C>T	ClinGen:CA5340447	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=)	4851	NOTCH1	Likely benign	370200858	RCV001495681\|RCV001580598\|RCV002343671\|RCV002271248;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397731	139397731	139397731	-
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	552065719	RCV000464312\|RCV001799662\|RCV002270510\|RCV002525579;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MeSH:D030342,MedGen:C0950123	9	139397732	139397732	NC_000009.11:g.139397732G>A	ClinGen:CA5340449	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val)	4851	NOTCH1	Uncertain significance	375408767	RCV000468891\|RCV001546235\|RCV002270498\|RCV002348311;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139397778	139397778	NC_000009.11:g.139397778T>C	ClinGen:CA5340453	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5019-6G>A	4851	NOTCH1	Likely benign	978561896	RCV000442898\|RCV000472071\|RCV001798813\|RCV002270449;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397788	139397788	9:g.139397788C>T	ClinGen:CA5340456	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5019-13_5019-10del	4851	NOTCH1	Benign	374419074	RCV000468475\|RCV000604130\|RCV001171099\|RCV002270524;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397792	139397795	NC_000009.11:g.139397794_139397797del	ClinGen:CA5340459	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5019-13A>G	4851	NOTCH1	Benign	148002954	RCV000442406\|RCV002063540\|RCV002270446;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139397795	139397795	9:g.139397795T>C	ClinGen:CA5340462	CN169374 not specified;
NM_017617.5(NOTCH1):c.5018+14G>A	4851	NOTCH1	Likely benign	936227030	RCV000425324\|RCV002063516\|RCV002270441;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399111	139399111	9:g.139399111C>T	ClinGen:CA16605643	CN169374 not specified;
NM_017617.5(NOTCH1):c.5018+13C>T	4851	NOTCH1	Likely benign	752508890	RCV000426235\|RCV002056672\|RCV002270488\|RCV002488982;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399112	139399112	NC_000009.11:g.139399112G>A	ClinGen:CA5340480	CN169374 not specified;
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)	4851	NOTCH1	Uncertain significance	1226514285	RCV000533504\|RCV002270699\|RCV002315053\|RCV003159134;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139399126	139399126	9:g.139399126C>T	ClinGen:CA375643897	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1251609154	RCV000607150\|RCV002270818\|RCV002270817\|RCV002315927\|RCV003403423;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|	9	139399127	139399127	9:g.139399127G>A	ClinGen:CA467741900	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	745901158	RCV000208387\|RCV002517402;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139399129	139399129	NC_000009.11:g.139399129G>A	ClinGen:CA079784	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)	4851	NOTCH1	Benign/Likely benign	2229968	RCV000121690\|RCV000233898\|RCV000769596\|RCV002269861\|RCV002492435\|RCV003430679;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139399132	139399132	9:g.139399132C>T	ClinGen:CA161207,UniProtKB:P46531#VAR_046618	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	749490844	RCV000557460\|RCV000766056\|RCV001553148\|RCV002315052;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399155	139399155	9:g.139399155C>T	ClinGen:CA5340483	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)	4851	NOTCH1	Uncertain significance	774808496	RCV000768033\|RCV001702558\|RCV001869058\|RCV002271020;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399158	139399158	NC_000009.11:g.139399158C>T	-
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	367838230	RCV000157395\|RCV000476688\|RCV002253254\|RCV002269929;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399172	139399172	9:g.139399172G>C	ClinGen:CA346558	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=)	4851	NOTCH1	Benign/Likely benign	367838230	RCV000231030\|RCV001697684\|RCV002270047\|RCV002313952;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399172	139399172	NC_000009.11:g.139399172G>A	ClinGen:CA10582643	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)	4851	NOTCH1	Uncertain significance	1243453790	RCV000770622\|RCV000801209\|RCV002271031;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399191	139399191	NC_000009.11:g.139399191G>A	-
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)	4851	NOTCH1	Likely benign	371365065	RCV000614152\|RCV000660169\|RCV000532297\|RCV001532183\|RCV002270150\|RCV002310877\|RCV002500946;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO	9	139399226	139399226	9:g.139399226G>A	ClinGen:CA5340494	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=)	4851	NOTCH1	Likely benign	751446074	RCV000600923\|RCV001419308\|RCV002270729\|RCV002341544;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399238	139399238	9:g.139399238G>A	ClinGen:CA5340496	CN169374 not specified;
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)	4851	NOTCH1	Benign/Likely benign	61751539	RCV000456348\|RCV000770624\|RCV000660168\|RCV001722374\|RCV002270151\|RCV003323479;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139399256	139399256	NC_000009.11:g.139399256G>A	ClinGen:CA5340500	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)	4851	NOTCH1	Uncertain significance	946083212	RCV000460526\|RCV000825645\|RCV002270504\|RCV002339159;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399263	139399263	NC_000009.11:g.139399263C>T	ClinGen:CA16612576	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His)	4851	NOTCH1	Uncertain significance	778271353	RCV001339595\|RCV001552691\|RCV002271221;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399278	139399278	139399278	-
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=)	4851	NOTCH1	Likely benign	375196212	RCV000655293\|RCV001696787\|RCV002270483\|RCV003168703;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399283	139399283	9:g.139399283G>A	ClinGen:CA5340506	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)	4851	NOTCH1	Benign/Likely benign	113634293	RCV000230616\|RCV000603497\|RCV001171102\|RCV002270046;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399316	139399316	9:g.139399316G>A	ClinGen:CA5340508	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)	4851	NOTCH1	Benign/Likely benign	76371972	RCV000121689\|RCV000227779\|RCV000424103\|RCV000770625\|RCV002269860;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399320	139399320	9:g.139399320C>T	ClinGen:CA161205	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)	4851	NOTCH1	Benign/Likely benign	370523171	RCV000539534\|RCV000660167\|RCV001722526\|RCV002270698\|RCV002315051;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399334	139399334	9:g.139399334G>A	ClinGen:CA5340512	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=)	4851	NOTCH1	Likely benign	761609069	RCV001436390\|RCV001577727\|RCV002271241;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399343	139399343	139399343	-
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	543770603	RCV000704495\|RCV000766057\|RCV002270978;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399348	139399348	9:g.139399348C>T	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	755124691	RCV000655234\|RCV001653955\|RCV002270890\|RCV002315097;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399350	139399350	NC_000009.11:g.139399350C>T	ClinGen:CA5340516	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)	4851	NOTCH1	Likely pathogenic	1843055667	RCV001249662;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399384	139399385	9:g.139399384_139399385insTG	-
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)	4851	NOTCH1	Benign/Likely benign	886038974	RCV000608215\|RCV002270155\|RCV002270156\|RCV002310904;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399397	139399397	9:g.139399397C>T	ClinGen:CA10587667	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu)	4851	NOTCH1	Uncertain significance	746431035	RCV001575799\|RCV001799107\|RCV002271270\|RCV002271269;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399401	139399401	139399401	-
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)	4851	NOTCH1	Likely benign	775105774	RCV000660166\|RCV000842219\|RCV002270956\|RCV002270957;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139399424	139399424	9:g.139399424C>T	-	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)	4851	NOTCH1	Uncertain significance	573864607	RCV000427061\|RCV001222877\|RCV002270386;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399425	139399425	9:g.139399425G>A	ClinGen:CA16605473	CN169374 not specified;
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)	4851	NOTCH1	Conflicting interpretations of pathogenicity	762492041	RCV001206747\|RCV001760172\|RCV002271193;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399426	139399426	9:g.139399426T>C	-
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=)	4851	NOTCH1	Likely benign	377357743	RCV000872198\|RCV001417421\|RCV002271099\|RCV003169177;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399430	139399430	9:g.139399430G>A	-
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=)	4851	NOTCH1	Likely benign	773978978	RCV000827107\|RCV001078685\|RCV002270697\|RCV002315050;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399433	139399433	9:g.139399433C>T	ClinGen:CA5340530	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)	4851	NOTCH1	Uncertain significance	748862853	RCV000822729\|RCV002271052\|RCV003323736;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139399488	139399488	9:g.139399488G>A	-
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=)	4851	NOTCH1	Benign/Likely benign	368495371	RCV000476198\|RCV001550775\|RCV002270531\|RCV002329126;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399490	139399490	NC_000009.11:g.139399490G>A	ClinGen:CA5340546	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)	4851	NOTCH1	Conflicting interpretations of pathogenicity	774068657	RCV001365748\|RCV002270178\|RCV002311137;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399491	139399491	NC_000009.11:g.139399491C>A	ClinGen:CA5340547	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)	4851	NOTCH1	Benign/Likely benign	142375989	RCV000456873\|RCV000606907\|RCV002270190\|RCV002311209;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399517	139399517	9:g.139399517G>A	ClinGen:CA5340551	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)	4851	NOTCH1	Uncertain significance	-1	RCV003333412;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399535	139399535		-
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)	4851	NOTCH1	Uncertain significance	750808945	RCV001799353\|RCV002034668\|RCV002271304;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399555	139399555	139399555	-
NM_017617.5(NOTCH1):c.4586+10C>T	4851	NOTCH1	Likely benign	760225110	RCV000456384\|RCV001450101\|RCV002489123;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139399752	139399752	NC_000009.11:g.139399752G>A	ClinGen:CA5340586	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4583_4586+2dup	4851	NOTCH1	Uncertain significance	-1	RCV003148119;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399759	139399760		-
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=)	4851	NOTCH1	Likely benign	745794855	RCV001697336\|RCV002062938\|RCV002270738;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399776	139399776	9:g.139399776C>T	ClinGen:CA5340589	CN169374 not specified;
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	774374213	RCV000524021\|RCV001312893\|RCV002270630;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399777	139399777	9:g.139399777G>A	ClinGen:CA5340591	CN169374 not specified;
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)	4851	NOTCH1	Uncertain significance	367589813	RCV001061659\|RCV002282446\|RCV002505630\|RCV003346293;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399780	139399780	9:g.139399780C>T	-
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=)	4851	NOTCH1	Likely benign	1057523575	RCV000424765\|RCV002063500\|RCV002270438;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399788	139399788	9:g.139399788G>A	ClinGen:CA16605645	CN169374 not specified;
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=)	4851	NOTCH1	Likely benign	766737406	RCV000555355\|RCV000660165\|RCV001660389\|RCV002270181\|RCV002311158;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399797	139399797	9:g.139399797G>A	ClinGen:CA5340596	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)	4851	NOTCH1	Benign/Likely benign	199740882	RCV000866670\|RCV001591390\|RCV002270880\|RCV002315080\|RCV003330840;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139399800	139399800	NC_000009.11:g.139399800G>A	ClinGen:CA5340597	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	765844768	RCV001362613\|RCV001664851\|RCV002341765\|RCV002271228;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399811	139399811	139399811	-
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)	4851	NOTCH1	Benign	61751540	RCV000206158\|RCV000442941\|RCV000770627\|RCV001723778\|RCV002270015;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399812	139399812	NC_000009.11:g.139399812G>A	ClinGen:CA350221	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)	4851	NOTCH1	Pathogenic	41309766	RCV000013295;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399836	139399836	NC_000009.11:g.139399836del	ClinGen:CA122443,OMIM:190198.0002	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=)	4851	NOTCH1	Benign/Likely benign	751191827	RCV000655280\|RCV002270893\|RCV002315100\|RCV003330841;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139399842	139399842	NC_000009.11:g.139399842G>A	ClinGen:CA5340602	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	745681787	RCV000805121\|RCV001580068\|RCV001798981\|RCV002271044;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399856	139399856	9:g.139399856T>C	-
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	369915496	RCV000471927\|RCV000766058\|RCV001580497\|RCV002270500\|RCV002313171;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139399876	139399876	NC_000009.11:g.139399876G>A	ClinGen:CA5340609	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=)	4851	NOTCH1	Likely benign	773323801	RCV000907032\|RCV001799008\|RCV002271111;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139399881	139399881	9:g.139399881G>A	-
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	759828439	RCV000770628\|RCV000805083\|RCV002271032\|RCV003148859;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202	9	139399897	139399897	NC_000009.11:g.139399897T>C	-
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=)	4851	NOTCH1	Likely benign	765751888	RCV000607304\|RCV002064253\|RCV002270838\|RCV002331071;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399920	139399920	9:g.139399920G>A	ClinGen:CA5340615	CN169374 not specified;
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=)	4851	NOTCH1	Likely benign	750183248	RCV001487171\|RCV001698407\|RCV002270841\|RCV002331072;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399938	139399938	9:g.139399938G>A	ClinGen:CA5340622	CN169374 not specified;
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)	4851	NOTCH1	Benign/Likely benign	202231073	RCV000464765\|RCV000660164\|RCV001696908\|RCV002270520\|RCV002313214;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399941	139399941	NC_000009.11:g.139399941G>A	ClinGen:CA5340623	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	374352922	RCV001368999\|RCV001751728\|RCV002271234\|RCV002493881\|RCV003169892;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625	9	139399975	139399975	139399975	-
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200495793	RCV000468014\|RCV001557539\|RCV002270506\|RCV002313172;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139399976	139399976	NC_000009.11:g.139399976C>T	ClinGen:CA5340629	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	147841035	RCV000697092\|RCV001547938\|RCV002332463\|RCV002270968\|RCV003403619;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139400000	139400000	NC_000009.11:g.139400000C>T	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=)	4851	NOTCH1	Likely benign	763497791	RCV002060680\|RCV002270905\|RCV002315111;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400004	139400004	NC_000009.11:g.139400004C>T	ClinGen:CA5340634	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	373960609	RCV000412831\|RCV002270244\|RCV002270243\|RCV002314115;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400013	139400013	9:g.139400013G>C	ClinGen:CA5340637	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=)	4851	NOTCH1	Likely benign	373960609	RCV000862868\|RCV001593074\|RCV002271082\|RCV003344093;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400013	139400013	9:g.139400013G>A	-
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)	4851	NOTCH1	Benign/Likely benign	376469653	RCV000599817\|RCV000866208\|RCV002270743\|RCV002315900;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400022	139400022	9:g.139400022C>T	ClinGen:CA5340640	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200232299	RCV001053272\|RCV003130128\|RCV003448365;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400033	139400033	9:g.139400033C>T	-
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	61751541	RCV000461782\|RCV000766059\|RCV001565647\|RCV002313170;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400035	139400035	NC_000009.11:g.139400035C>T	ClinGen:CA5340647	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	780500109	RCV001365835\|RCV001586152\|RCV002271232\|RCV002329373;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400039	139400039	139400039	-
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	371303106	RCV000549909\|RCV001731787\|RCV002270696\|RCV002330986;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400041	139400041	9:g.139400041G>A	ClinGen:CA5340652	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=)	4851	NOTCH1	Likely benign	774697636	RCV000869251\|RCV001493389\|RCV002270772\|RCV002331043;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400052	139400052	9:g.139400052G>A	ClinGen:CA5340653	CN169374 not specified;
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=)	4851	NOTCH1	Likely benign	547687521	RCV000655299\|RCV001798953\|RCV002270951;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400085	139400085	NC_000009.11:g.139400085G>A	ClinGen:CA5340657	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	371068504	RCV000471799\|RCV000766060\|RCV001536590\|RCV001798757\|RCV002270187;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MO	9	139400110	139400110	NC_000009.11:g.139400110C>T	ClinGen:CA5340660	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=)	4851	NOTCH1	Benign/Likely benign	749570626	RCV000465269\|RCV001417865\|RCV002270522\|RCV002313215;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400163	139400163	NC_000009.11:g.139400163G>A	ClinGen:CA5340667	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)	4851	NOTCH1	Likely benign	200664704	RCV000660163\|RCV001576391\|RCV002270955\|RCV002270954\|RCV002331295;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400169	139400169	9:g.139400169G>A	-	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	367710569	RCV000472629\|RCV001591091\|RCV002270503\|RCV002329051;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400191	139400191	NC_000009.11:g.139400191G>A	ClinGen:CA5340674	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=)	4851	NOTCH1	Likely benign	539950718	RCV000655277\|RCV001463533\|RCV002270947\|RCV002331279;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400205	139400205	9:g.139400205G>A	ClinGen:CA201645125	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	61751542	RCV000121684\|RCV000230241\|RCV002269859\|RCV002284189\|RCV002312813\|RCV002505066\|RCV003114267;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019452,MedGen:C1333046, Orphanet:86830\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:	9	139400219	139400219	9:g.139400219G>A	ClinGen:CA161195	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)	4851	NOTCH1	Likely benign	374921637	RCV000655275\|RCV001448249\|RCV002270821\|RCV002325171\|RCV002491273;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139400247	139400247	9:g.139400247C>T	ClinGen:CA5340686	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)	4851	NOTCH1	Benign/Likely benign	202023240	RCV000869379\|RCV001593087\|RCV002271097\|RCV002320002;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400253	139400253	9:g.139400253G>A	-
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	769493139	RCV000788669\|RCV002270153\|RCV002270152\|RCV002310901;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400270	139400270	9:g.139400270C>T	ClinGen:CA5340693	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=)	4851	NOTCH1	Benign/Likely benign	775108554	RCV000863782\|RCV001559847\|RCV002270879\|RCV002315079;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400271	139400271	NC_000009.11:g.139400271G>A	ClinGen:CA5340694	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)	4851	NOTCH1	Uncertain significance	587778567	RCV000121683\|RCV000658393\|RCV001201674\|RCV002269858;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400282	139400282	9:g.139400282G>A	ClinGen:CA161193	CN517202 not provided;
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1274662962	RCV001938711\|RCV002507602;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400290	139400290	139400290	-
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200099319	RCV000536502\|RCV001171104\|RCV001335843\|RCV001704685\|RCV003330796;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MedGen:CN169374	9	139400292	139400292	9:g.139400292G>A	ClinGen:CA5340698	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)	4851	NOTCH1	Uncertain significance	150343794	RCV000655263\|RCV001731849\|RCV002270942;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400299	139400299	9:g.139400299C>G	ClinGen:CA5340700	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	4851	NOTCH1	Benign/Likely benign	183156491	RCV000121682\|RCV000660161\|RCV000988295\|RCV001171105\|RCV001573614\|RCV002269857;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400320	139400320	9:g.139400320G>A	ClinGen:CA161191	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)	4851	NOTCH1	Uncertain significance	748933222	RCV000999290\|RCV001058313\|RCV002310958\|RCV002270164;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400324	139400324	9:g.139400324C>T	ClinGen:CA5340709	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala)	4851	NOTCH1	Uncertain significance	1131692021	RCV000494578\|RCV001201458\|RCV002270592;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400332	139400332	9:g.139400332C>G	ClinGen:CA375548420	CN169374 not specified;
NM_017617.5(NOTCH1):c.4015-7C>T	4851	NOTCH1	Likely benign	761783451	RCV000615835\|RCV000869230\|RCV002270801;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400340	139400340	9:g.139400340G>A	ClinGen:CA5340713	CN169374 not specified;
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val)	4851	NOTCH1	Uncertain significance	1397249771	RCV001307582\|RCV001770554\|RCV002270878\|RCV002315078;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400980	139400980	NC_000009.11:g.139400980G>A	ClinGen:CA375548540	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg)	4851	NOTCH1	Uncertain significance	1043832212	RCV000481924\|RCV000655253\|RCV002270582\|RCV002313255;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139400983	139400983	9:g.139400983G>C	ClinGen:CA16618803	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3999C>G (p.Ile1333Met)	4851	NOTCH1	Uncertain significance	-1	RCV002289193;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139400994	139400994	139400994	-
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	769908800	RCV002028158\|RCV002224131\|RCV002352704\|RCV002271314;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401002	139401002	139401002	-
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1249540119	RCV001938810\|RCV002503645;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401005	139401005	139401005	-
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	751874720	RCV001359164\|RCV002261354\|RCV002271227\|RCV003150425;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401013	139401013	139401013	-
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp)	4851	NOTCH1	Uncertain significance	896438598	RCV000461377\|RCV001770342\|RCV002270505;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401019	139401019	NC_000009.11:g.139401019G>T	ClinGen:CA16612680	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	149057410	RCV000788284\|RCV001241066\|RCV002477793\|RCV002271036\|RCV003307420;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139401023	139401023	9:g.139401023C>A	-
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=)	4851	NOTCH1	Likely benign	753290862	RCV000463128\|RCV001552267\|RCV002270516\|RCV003168902;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401027	139401027	NC_000009.11:g.139401027G>A	ClinGen:CA5340747	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	754634957	RCV000655257\|RCV001584515\|RCV002270941\|RCV002352063;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401039	139401039	NC_000009.11:g.139401039A>T	ClinGen:CA5340748	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=)	4851	NOTCH1	Likely benign	770781173	RCV000475671\|RCV001171106\|RCV002270544;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401075	139401075	NC_000009.11:g.139401075G>A	ClinGen:CA5340754	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)	4851	NOTCH1	Benign/Likely benign	1554728133	RCV000614490\|RCV001394287\|RCV002270788;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401078	139401078	9:g.139401078C>T	ClinGen:CA467833030	CN169374 not specified;
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	768775024	RCV000559743\|RCV000576544;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401085	139401085	NC_000009.11:g.139401085C>T	ClinGen:CA5340757	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)	4851	NOTCH1	Uncertain significance	762091081	RCV001325304\|RCV002486302\|RCV001569169\|RCV002271218;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401088	139401088	139401088	-
NM_017617.5(NOTCH1):c.3901+10G>A	4851	NOTCH1	Likely benign	561404862	RCV000547192\|RCV000680589\|RCV002270695;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401158	139401158	9:g.139401158C>T	ClinGen:CA5340775	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)	4851	NOTCH1	Likely benign	758031388	RCV001451166\|RCV002270904\|RCV002315110;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401208	139401208	NC_000009.11:g.139401208G>A	ClinGen:CA5340784	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	763679772	RCV000680590\|RCV000690352\|RCV002270961\|RCV003432725;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139401209	139401209	9:g.139401209C>T	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	756972680	RCV000519706\|RCV000693083\|RCV001291516\|RCV002270629\|RCV002367734\|RCV003224309\|RCV003330741;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|Human Phenotype Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550, Orphanet:2248\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C	9	139401216	139401216	9:g.139401216C>T	ClinGen:CA5340787	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	756972680	RCV001350107\|RCV001732132\|RCV002271225\|RCV003294374;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401216	139401216	139401216	-
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=)	4851	NOTCH1	Benign/Likely benign	377289044	RCV000530316\|RCV000830676\|RCV002270694\|RCV002315049;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401217	139401217	9:g.139401217G>A	ClinGen:CA5340788	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	4851	NOTCH1	Benign/Likely benign	61751543	RCV000121680\|RCV000229594\|RCV001291515\|RCV001699039\|RCV002269856\|RCV002313937\|RCV002492434;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|Human Phenotype Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550, Orphanet:2248\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:	9	139401233	139401233	9:g.139401233C>T	ClinGen:CA161187	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)	4851	NOTCH1	Uncertain significance	1406056612	RCV001772712\|RCV002034475\|RCV002271294;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401237	139401237	139401237	-
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=)	4851	NOTCH1	Benign/Likely benign	374989581	RCV000546407\|RCV001550119\|RCV002270693\|RCV002315048;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401238	139401238	9:g.139401238G>A	ClinGen:CA5340793	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	377594681	RCV000655268\|RCV001546444\|RCV002270945\|RCV002343398\|RCV002493062;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139401281	139401281	9:g.139401281C>T	ClinGen:CA5340800	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)	4851	NOTCH1	Benign	201354526	RCV000456717\|RCV000615526\|RCV001573259\|RCV002270543\|RCV002313222;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401289	139401289	NC_000009.11:g.139401289C>G	ClinGen:CA5340801	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)	4851	NOTCH1	Benign/Likely benign	80340744	RCV000121679\|RCV000770632\|RCV000988296\|RCV002269855\|RCV003430678;	N	MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139401302	139401302	9:g.139401302G>A	ClinGen:CA161185	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)	4851	NOTCH1	Pathogenic	1057515423	RCV000408649;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401304	139401304	9:g.139401304G>T	ClinGen:CA10602396	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=)	4851	NOTCH1	Likely benign	369637862	RCV000867071\|RCV001434432\|RCV002271092\|RCV002345979;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401346	139401346	9:g.139401346G>A	-
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)	4851	NOTCH1	Uncertain significance	773926521	RCV001767536\|RCV001868479\|RCV002271295\|RCV002343830;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401368	139401368	139401368	-
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	750169914	RCV000540757\|RCV001579924\|RCV002270692\|RCV002315047;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401375	139401375	9:g.139401375C>T	ClinGen:CA5340821	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)	4851	NOTCH1	Likely benign	753711100	RCV000841698\|RCV001498758\|RCV002271072\|RCV002453923;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401385	139401385	9:g.139401385G>A	-
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	112900950	RCV000660159\|RCV002506375\|RCV002270691\|RCV000532992;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401405	139401405	9:g.139401405C>T	ClinGen:CA5340831	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=)	4851	NOTCH1	Likely benign	780527525	RCV001171108\|RCV001452475\|RCV002270950;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401406	139401406	9:g.139401406G>A	ClinGen:CA5340832	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3644-4G>A	4851	NOTCH1	Benign/Likely benign	376161552	RCV000231657\|RCV000660158\|RCV001580003\|RCV002270044\|RCV002313950\|RCV003330599;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139401429	139401429	9:g.139401429C>T	ClinGen:CA5340835	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3644-5C>T	4851	NOTCH1	Conflicting interpretations of pathogenicity	371070297	RCV000470082\|RCV001552411\|RCV002270525\|RCV002350026;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401430	139401430	NC_000009.11:g.139401430G>A	ClinGen:CA5340836	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3644-17G>A	4851	NOTCH1	Likely benign	139960251	RCV000609234\|RCV002063332\|RCV002270776;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401442	139401442	9:g.139401442C>T	ClinGen:CA5340839	CN169374 not specified;
NM_017617.5(NOTCH1):c.3643+17G>A	4851	NOTCH1	Likely benign	376187570	RCV000600802\|RCV002063170\|RCV002270766;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401740	139401740	9:g.139401740C>T	ClinGen:CA5340857	CN169374 not specified;
NM_017617.5(NOTCH1):c.3643+10G>A	4851	NOTCH1	Likely benign	1159458812	RCV000605863\|RCV001441633\|RCV002270787;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401747	139401747	9:g.139401747C>T	ClinGen:CA591367436	CN169374 not specified;
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)	4851	NOTCH1	Uncertain significance	750536437	RCV002310973\|RCV002494791\|RCV002518705;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401762	139401762	9:g.139401762G>C	ClinGen:CA10587668	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	756362905	RCV000815309\|RCV002305542\|RCV002453853\|RCV002501119;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401768	139401768	9:g.139401768C>T	-
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)	4851	NOTCH1	Benign	766644919	RCV000845088\|RCV001219827;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401769	139401769	9:g.139401769G>A	-
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)	4851	NOTCH1	Uncertain significance	1554728268	RCV001855281\|RCV002270914\|RCV002315127;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401796	139401796	NC_000009.11:g.139401796G>A	ClinGen:CA375549744	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=)	4851	NOTCH1	Benign/Likely benign	150666307	RCV000864453\|RCV002270193\|RCV002311217;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401803	139401803	NC_000009.11:g.139401803G>A	ClinGen:CA5340870	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	61751544	RCV001303531\|RCV001536208\|RCV002271211\|RCV002451682;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401821	139401821	139401821	-
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=)	4851	NOTCH1	Likely benign	61751544	RCV001451065\|RCV001587417\|RCV002456762\|RCV002271243;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139401821	139401821	139401821	-
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)	4851	NOTCH1	Uncertain significance	775438678	RCV000697399\|RCV001557790\|RCV002270969\|RCV002485700\|RCV003163215;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139401831	139401831	NC_000009.11:g.139401831T>C	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)	4851	NOTCH1	Uncertain significance	-1	RCV003224714;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401844	139401844		-
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	548083258	RCV000799752\|RCV001555791\|RCV002271041\|RCV002458453;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139401847	139401847	9:g.139401847C>T	-
NM_017617.5(NOTCH1):c.3511-10G>A	4851	NOTCH1	Benign	139838537	RCV000418093\|RCV000468796\|RCV000770633\|RCV002270399\|RCV003422410;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139401899	139401899	9:g.139401899C>T	ClinGen:CA5340890	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3511-11C>T	4851	NOTCH1	Benign/Likely benign	201280571	RCV000616957\|RCV002270753\|RCV002063083;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139401900	139401900	9:g.139401900G>A	ClinGen:CA5340891	CN169374 not specified;
NM_017617.5(NOTCH1):c.3510+3G>A	4851	NOTCH1	Conflicting interpretations of pathogenicity	372739350	RCV000527368\|RCV000659138\|RCV000764816\|RCV003343924;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402404	139402404	9:g.139402404C>T	ClinGen:CA5340912	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)	4851	NOTCH1	Uncertain significance	769903954	RCV001590134\|RCV001866214\|RCV002271274;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402435	139402435	139402435	-
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=)	4851	NOTCH1	Likely benign	377488165	RCV001171111\|RCV002068049\|RCV002271188;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402476	139402476	9:g.139402476G>A	-
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=)	4851	NOTCH1	Likely benign	192914380	RCV000462896\|RCV002270534\|RCV002313218;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402512	139402512	NC_000009.11:g.139402512C>T	ClinGen:CA5340932	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	370300490	RCV001319103\|RCV002222696\|RCV002271216\|RCV003382519;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402513	139402513	139402513	-
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)	4851	NOTCH1	Benign/Likely benign	374230681	RCV000121676\|RCV000539156\|RCV001564352\|RCV002269853\|RCV002313935;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402516	139402516	9:g.139402516T>C	ClinGen:CA161179	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=)	4851	NOTCH1	Benign/Likely benign	200608278	RCV000471583\|RCV001721527\|RCV002270521\|RCV002455878;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402533	139402533	NC_000009.11:g.139402533C>T	ClinGen:CA5340939	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200871631	RCV000463462\|RCV001546754\|RCV002270494;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402543	139402543	NC_000009.11:g.139402543G>A	ClinGen:CA5340941	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)	4851	NOTCH1	Uncertain significance	764816819	RCV001321816\|RCV002270921\|RCV002315139;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402567	139402567	9:g.139402567T>C	ClinGen:CA5340948	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=)	4851	NOTCH1	Likely benign	752440904	RCV001590055\|RCV002072343\|RCV002271273;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402572	139402572	139402572	-
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)	4851	NOTCH1	Uncertain significance	777684045	RCV000521074\|RCV000818617\|RCV001798869\|RCV002270635\|RCV002497034\|RCV003419914;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139402576	139402576	9:g.139402576C>T	ClinGen:CA5340951	CN169374 not specified;
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	377351349	RCV000121677\|RCV001246312\|RCV002269854\|RCV002313936\|RCV002505065;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139402579	139402579	9:g.139402579G>A	ClinGen:CA161181	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile)	4851	NOTCH1	Conflicting interpretations of pathogenicity	370696201	RCV000706361\|RCV001281019\|RCV001537475\|RCV002325430;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402583	139402583	9:g.139402583C>T	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)	4851	NOTCH1	Benign/Likely benign	61751545	RCV000228817\|RCV000357716\|RCV000660157\|RCV000770634\|RCV002270043\|RCV002292494;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139402584	139402584	NC_000009.11:g.139402584G>A	ClinGen:CA5340955	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3326-11A>C	4851	NOTCH1	Benign/Likely benign	377648586	RCV000680591\|RCV001697434\|RCV002062919\|RCV002270737\|RCV003323630;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139402602	139402602	9:g.139402602T>G	ClinGen:CA5340961	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.3326-16A>T	4851	NOTCH1	Likely benign	374731388	RCV000604661\|RCV002063106\|RCV002270759;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402607	139402607	9:g.139402607T>A	ClinGen:CA5340965	CN169374 not specified;
NM_017617.5(NOTCH1):c.3325+21A>G	4851	NOTCH1	Benign	3124597	RCV000838158\|RCV001785739\|RCV001725200\|RCV001785740;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139402663	139402663	9:g.139402663T>C	-
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)	4851	NOTCH1	Pathogenic	41309764	RCV000013294\|RCV001781254\|RCV001851821;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139402690	139402690	9:g.139402690G>A	ClinGen:CA122441,OMIM:190198.0001	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)	4851	NOTCH1	Benign	3812602	RCV000205291\|RCV000612040\|RCV000770635\|RCV001723781\|RCV002270020;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402694	139402694	NC_000009.11:g.139402694C>A	ClinGen:CA349460	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=)	4851	NOTCH1	Likely benign	3812602	RCV001486992\|RCV002271246\|RCV001555576;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139402694	139402694	139402694	-
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)	4851	NOTCH1	Benign/Likely benign	61751546	RCV000204866\|RCV000420267\|RCV000602259\|RCV000660156\|RCV000770636\|RCV001705178;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139402715	139402715	9:g.139402715G>A	ClinGen:CA349060	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)	4851	NOTCH1	Benign/Likely benign	374944458	RCV000473979\|RCV001696759\|RCV002270479\|RCV002323662\|RCV003330682;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139402721	139402721	9:g.139402721C>G	ClinGen:CA5340994	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)	4851	NOTCH1	Likely pathogenic	-1	RCV003326287;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402727	139402727		-
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	768095251	RCV000233859\|RCV001589195\|RCV002270042\|RCV002444917;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139402738	139402738	9:g.139402738C>T	ClinGen:CA5340999	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=)	4851	NOTCH1	Benign/Likely benign	773990513	RCV000550713\|RCV002270690\|RCV002448807\|RCV000602759;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139402739	139402739	9:g.139402739G>A	ClinGen:CA5341000	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)	4851	NOTCH1	Uncertain significance	531420022	RCV000657938\|RCV001855363\|RCV002270952;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402747	139402747	9:g.139402747C>G	-	CN517202 not provided;
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)	4851	NOTCH1	Benign	139994842	RCV000474955\|RCV000607038\|RCV000770637\|RCV002270536;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402760	139402760	NC_000009.11:g.139402760G>A	ClinGen:CA5341006	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)	4851	NOTCH1	Uncertain significance	587778566	RCV000121675\|RCV001753503\|RCV001854665\|RCV002269852;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402798	139402798	9:g.139402798C>T	ClinGen:CA161177	CN169374 not specified;
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=)	4851	NOTCH1	Likely benign	199892488	RCV000230983\|RCV000606980\|RCV000770638\|RCV002270041;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402811	139402811	9:g.139402811C>T	ClinGen:CA5341018	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3172-12A>G	4851	NOTCH1	Likely benign	547259185	RCV000437290\|RCV002060005\|RCV002270450;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139402849	139402849	9:g.139402849T>C	ClinGen:CA5341030	CN169374 not specified;
NM_017617.5(NOTCH1):c.3171+42G>A	4851	NOTCH1	Benign	11145765	RCV001714384\|RCV001785837\|RCV001785836;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403280	139403280	139403280	-
NM_017617.5(NOTCH1):c.3171+12G>A	4851	NOTCH1	Likely benign	753242532	RCV000601676\|RCV001484608\|RCV002270864;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403310	139403310	9:g.139403310C>T	ClinGen:CA5341053	CN169374 not specified;
NM_017617.5(NOTCH1):c.3171+8C>T	4851	NOTCH1	Benign/Likely benign	985717588	RCV000840190\|RCV002067519\|RCV002271066;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403314	139403314	9:g.139403314G>A	-
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)	4851	NOTCH1	Uncertain significance	375260339	RCV001043793\|RCV001569819\|RCV002271172;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403372	139403372	9:g.139403372C>T	-
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)	4851	NOTCH1	Benign/Likely benign	200207651	RCV000456603\|RCV001567151\|RCV002270173\|RCV002311096\|RCV003330614;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139403378	139403378	NC_000009.11:g.139403378C>T	ClinGen:CA5341058	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=)	4851	NOTCH1	Likely benign	769755236	RCV000234548\|RCV002270040\|RCV002313949\|RCV003422153;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139403379	139403379	9:g.139403379G>A	ClinGen:CA5341059	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)	4851	NOTCH1	Uncertain significance	886039138	RCV000764817\|RCV001854991\|RCV002270180\|RCV002311151;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243	9	139403389	139403389	9:g.139403389G>A	ClinGen:CA10587669	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=)	4851	NOTCH1	Likely benign	775567314	RCV001698008\|RCV002270799\|RCV002315925\|RCV002270798;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403394	139403394	9:g.139403394G>A	ClinGen:CA5341060	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)	4851	NOTCH1	Uncertain significance	1397562033	RCV001055529\|RCV001170151\|RCV002271176\|RCV002298863;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202	9	139403398	139403398	9:g.139403398T>C	-
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=)	4851	NOTCH1	Benign/Likely benign	371532644	RCV000831024\|RCV001081076\|RCV002270689\|RCV002315046;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139403451	139403451	NC_000009.11:g.139403451C>T	ClinGen:CA5341065	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=)	4851	NOTCH1	Likely benign	371301397	RCV000616173\|RCV001462060\|RCV002270750\|RCV003160083\|RCV003311860;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139403481	139403481	9:g.139403481C>T	ClinGen:CA5341069	CN169374 not specified;
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)	4851	NOTCH1	Uncertain significance	763621169	RCV000796996\|RCV001557407\|RCV002270910\|RCV002315122\|RCV002483734;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139403492	139403492	NC_000009.11:g.139403492C>T	ClinGen:CA5341071	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)	4851	NOTCH1	Benign/Likely benign	374100421	RCV000863972\|RCV001170154\|RCV001550167\|RCV002271087;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403511	139403511	9:g.139403511G>A	-
NM_017617.5(NOTCH1):c.2970-9C>T	4851	NOTCH1	Benign/Likely benign	568052902	RCV000537325\|RCV000660155\|RCV001579888\|RCV002270688;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403532	139403532	9:g.139403532G>A	ClinGen:CA5341077	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2970-20G>A	4851	NOTCH1	Benign/Likely benign	367927174	RCV000441751\|RCV001724002\|RCV002060021\|RCV002270456;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403543	139403543	9:g.139403543C>T	ClinGen:CA5341079	CN169374 not specified;
NM_017617.5(NOTCH1):c.2970-31A>G	4851	NOTCH1	Benign	3124598	RCV000837659\|RCV001785734\|RCV001785733;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139403554	139403554	9:g.139403554T>C	-
NM_017617.5(NOTCH1):c.2969+14G>A	4851	NOTCH1	Benign/Likely benign	112192550	RCV000419428\|RCV002063610\|RCV002270473;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139404171	139404171	9:g.139404171C>T	ClinGen:CA5341100	CN169374 not specified;
NM_017617.5(NOTCH1):c.2969+13C>T	4851	NOTCH1	Benign	7864720	RCV000602986\|RCV002062822\|RCV002270726;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139404172	139404172	9:g.139404172G>A	ClinGen:CA5341101	CN169374 not specified;
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)	4851	NOTCH1	Uncertain significance	1843147704	RCV001213252\|RCV001760187\|RCV002271195;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139404191	139404191	9:g.139404191G>A	-
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)	4851	NOTCH1	Uncertain significance	1843147969	RCV001235252\|RCV002504323;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139404204	139404204	9:g.139404204T>C	-
NM_017617.5(NOTCH1):c.2937C>T (p.His979=)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1406216361	RCV001394910\|RCV002070256;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139404217	139404217	139404217	-
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200699541	RCV000703448\|RCV002270884\|RCV002315090\|RCV003236824;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139404237	139404237	NC_000009.11:g.139404237C>T	ClinGen:CA5341112	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)	4851	NOTCH1	Benign/Likely benign	754724517	RCV002060681\|RCV002270908\|RCV002315115;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404238	139404238	NC_000009.11:g.139404238G>A	ClinGen:CA5341113	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)	4851	NOTCH1	Conflicting interpretations of pathogenicity	201053795	RCV000707223\|RCV001571863\|RCV002270987\|RCV003303197;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404246	139404246	9:g.139404246T>C	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)	4851	NOTCH1	Uncertain significance	1843149230	RCV001320336\|RCV001760402\|RCV002271217\|RCV003166853;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404255	139404256	139404255	-
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=)	4851	NOTCH1	Likely benign	749585921	RCV001413441\|RCV001552005\|RCV002271238\|RCV002438957;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404265	139404265	139404265	-
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	377343669	RCV000476425\|RCV001557233\|RCV002270508\|RCV003298488;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404272	139404272	NC_000009.11:g.139404272G>A	ClinGen:CA5341125	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=)	4851	NOTCH1	Likely benign	760227470	RCV000459479\|RCV001426893\|RCV002270439;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139404286	139404286	9:g.139404286G>A	ClinGen:CA5341127	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)	4851	NOTCH1	Uncertain significance	1843150410	RCV001330960\|RCV002546427;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139404303	139404303	139404303	-
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)	4851	NOTCH1	Benign/Likely benign	35962301	RCV000601009\|RCV000544338\|RCV002270189\|RCV002311208;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404341	139404341	9:g.139404341C>T	ClinGen:CA5341141	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)	4851	NOTCH1	Likely benign	200332386	RCV000655284\|RCV001580006\|RCV001798921\|RCV002270777\|RCV002506465;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MO	9	139404349	139404349	9:g.139404349G>A	ClinGen:CA5341143	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)	4851	NOTCH1	Benign/Likely benign	557156741	RCV000863474\|RCV002064226\|RCV002270835\|RCV002438599;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404361	139404361	9:g.139404361G>A	ClinGen:CA5341145	CN169374 not specified;
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=)	4851	NOTCH1	Likely benign	200082362	RCV001538707\|RCV002270687\|RCV002438506\|RCV000536250;	N	MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139404370	139404370	NC_000009.11:g.139404370C>T	ClinGen:CA5341146	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	764921648	RCV002048299\|RCV002441217\|RCV002498052\|RCV003130678;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900	9	139404371	139404371	139404371	-
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=)	4851	NOTCH1	Likely benign	762732089	RCV000842172\|RCV001494694\|RCV002271073\|RCV002434044;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404382	139404382	9:g.139404382G>A	-
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)	4851	NOTCH1	Benign	201985795	RCV000175337\|RCV000233036\|RCV002269935\|RCV002314605;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404385	139404385	9:g.139404385T>C	ClinGen:CA201401	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	367586502	RCV000655233\|RCV002270923\|RCV002315142;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139404401	139404401	NC_000009.11:g.139404401T>C	ClinGen:CA5341151	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=)	4851	NOTCH1	Likely benign	766331471	RCV000560353\|RCV000612338\|RCV002270686;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139404409	139404409	NC_000009.11:g.139404409C>T	ClinGen:CA5341152	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2741-12G>A	4851	NOTCH1	Likely benign	370769571	RCV000611098\|RCV002062175\|RCV002270724;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139404425	139404425	9:g.139404425C>T	ClinGen:CA5341158	CN169374 not specified;
NM_017617.5(NOTCH1):c.2740+12C>T	4851	NOTCH1	Benign	36119806	RCV000272824\|RCV001510930\|RCV001785545;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405093	139405093	9:g.139405093G>A	ClinGen:CA5341184	CN169374 not specified;
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	4851	NOTCH1	Conflicting interpretations of pathogenicity	201620358	RCV000121671\|RCV000143938\|RCV000608304\|RCV000660154\|RCV000727058\|RCV001027797\|RCV001084013;	N	MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedG	9	139405111	139405111	NC_000009.11:g.139405111G>A	ClinGen:CA161169
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	765293859	RCV000807630\|RCV001731935\|RCV002271046;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405117	139405117	9:g.139405117C>T	-
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=)	4851	NOTCH1	Likely benign	61751547	RCV000232649\|RCV001533945\|RCV002270039\|RCV002450703;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405121	139405121	9:g.139405121G>A	ClinGen:CA5341194	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=)	4851	NOTCH1	Likely benign	200243788	RCV000866623\|RCV001697984\|RCV002270792\|RCV002431788;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405127	139405127	9:g.139405127G>A	ClinGen:CA5341196	CN169374 not specified;
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	373075482	RCV001591392\|RCV001855282\|RCV002270916\|RCV002315130;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405140	139405140	9:g.139405140C>T	ClinGen:CA5341198	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)	4851	NOTCH1	Benign	11574895	RCV000206753\|RCV000287658\|RCV001723780\|RCV002310799\|RCV002270019;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405154	139405154	NC_000009.11:g.139405154G>A	ClinGen:CA350759	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)	4851	NOTCH1	Benign	61751548	RCV000205664\|RCV000299126\|RCV002310798\|RCV002270018;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405181	139405181	NC_000009.11:g.139405181G>A	ClinGen:CA349798	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)	4851	NOTCH1	Benign/Likely benign	61751550	RCV000554756\|RCV000614432\|RCV000770639\|RCV002270685;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405199	139405199	NC_000009.11:g.139405199T>A	ClinGen:CA5341211	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	767886377	RCV001211817\|RCV002069303\|RCV002429900\|RCV002271194;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:002452	9	139405201	139405201	9:g.139405201C>T	-
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)	4851	NOTCH1	Benign/Likely benign	374946182	RCV000465703\|RCV000660153\|RCV002270527\|RCV002455879\|RCV003401502;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139405205	139405205	NC_000009.11:g.139405205G>A	ClinGen:CA5341215	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	368011392	RCV000476977\|RCV000523567\|RCV002270495\|RCV002451109;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405209	139405209	NC_000009.11:g.139405209C>T	ClinGen:CA5341218	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)	4851	NOTCH1	Uncertain significance	1420968156	RCV001940500\|RCV002271309\|RCV002223326;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139405240	139405240	139405240	-
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)	4851	NOTCH1	Benign/Likely benign	115235667	RCV000225801\|RCV000591259\|RCV001705281\|RCV002270038\|RCV002313948;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405241	139405241	NC_000009.11:g.139405241G>A	ClinGen:CA5341230	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2588-4G>A	4851	NOTCH1	Benign	3125001	RCV000347835\|RCV000614135\|RCV001519882\|RCV002313993;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405261	139405261	9:g.139405261C>T	ClinGen:CA5341232	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.2588-5C>T	4851	NOTCH1	Conflicting interpretations of pathogenicity	764684418	RCV001479003\|RCV001560180\|RCV002271245\|RCV002432341;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405262	139405262	139405262	-
NM_017617.5(NOTCH1):c.2588-16T>G	4851	NOTCH1	Likely benign	781139940	RCV000603509\|RCV002064258\|RCV002270839;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405273	139405273	9:g.139405273A>C	ClinGen:CA5341240	CN169374 not specified;
NM_017617.5(NOTCH1):c.2587+20G>A	4851	NOTCH1	Benign	148381982	RCV000433217\|RCV001517825\|RCV002270358\|RCV003114561;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139405584	139405584	9:g.139405584C>T	ClinGen:CA5341260	CN169374 not specified;
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	199505287	RCV000655238\|RCV001558346\|RCV002270922\|RCV002315141\|RCV002483735;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139405615	139405615	9:g.139405615G>A	ClinGen:CA5341266	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)	4851	NOTCH1	Uncertain significance	779164170	RCV000522624\|RCV000803586\|RCV002270631\|RCV002431488;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405631	139405633	NC_000009.11:g.139405633_139405635del	ClinGen:CA5341269
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)	4851	NOTCH1	Benign/Likely benign	35136134	RCV000121669\|RCV000229399\|RCV000660152\|RCV001170158\|RCV001573939\|RCV002269850\|RCV003227670;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO	9	139405649	139405649	9:g.139405649C>T	ClinGen:CA161165	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del)	4851	NOTCH1	Uncertain significance	754554370	RCV001059662\|RCV001760016\|RCV002271177;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405666	139405668	9:g.139405666_139405668del	-
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	369259434	RCV000157394\|RCV000426450\|RCV001857555\|RCV002269928\|RCV002426765;	N	Human Phenotype Ontology:HP:0005294,MedGen:C0002949\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405670	139405670	9:g.139405670C>T	ClinGen:CA346556	C0002949 Arterial dissection;
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=)	4851	NOTCH1	Benign/Likely benign	546222078	RCV001584868\|RCV002271271\|RCV002072306\|RCV002425000;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405671	139405671	139405671	-
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=)	4851	NOTCH1	Likely benign	1554728839	RCV000603788\|RCV001445991\|RCV002270795;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139405677	139405677	9:g.139405677G>A	ClinGen:CA467716974	CN169374 not specified;
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg)	4851	NOTCH1	Uncertain significance	777663026	RCV002014908\|RCV002224129\|RCV002271313\|RCV002441139;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405681	139405681	139405681	-
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)	4851	NOTCH1	Benign/Likely benign	111756273	RCV000541326\|RCV001722525\|RCV002270684\|RCV002431727;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405686	139405686	9:g.139405686G>T	ClinGen:CA5341285	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly)	4851	NOTCH1	Uncertain significance	202144877	RCV000413713\|RCV000552895\|RCV002270239\|RCV002429340;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405690	139405690	9:g.139405690G>C	ClinGen:CA16042770	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)	4851	NOTCH1	Benign/Likely benign	61751551	RCV000226548\|RCV001722261\|RCV002270037\|RCV002313947\|RCV003323469;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139405695	139405695	NC_000009.11:g.139405695C>A	ClinGen:CA5341289	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=)	4851	NOTCH1	Likely benign	61751551	RCV000923209\|RCV001430973\|RCV002270437\|RCV002429431;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139405695	139405695	9:g.139405695C>T	ClinGen:CA5341290	CN169374 not specified;
NM_017617.5(NOTCH1):c.2468-19G>A	4851	NOTCH1	Benign/Likely benign	116515776	RCV000430662\|RCV002063475\|RCV002270428\|RCV002488956;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139405742	139405742	9:g.139405742C>T	ClinGen:CA5341301	CN169374 not specified;
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1379596542	RCV000678730\|RCV000693849\|RCV001546581\|RCV002270958\|RCV002442404;	N	MedGen:C0396023\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407482	139407482	NC_000009.11:g.139407482G>A	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)	4851	NOTCH1	Uncertain significance	1589064290	RCV000788443\|RCV001869206\|RCV002271037\|RCV002536906;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MeSH:D030342,MedGen:C0950123	9	139407494	139407494	9:g.139407494T>C	-
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)	4851	NOTCH1	Benign/Likely benign	544653892	RCV000868787\|RCV002270907\|RCV002315113;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407498	139407498	NC_000009.11:g.139407498C>T	ClinGen:CA5341355	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)	4851	NOTCH1	Pathogenic	1057515422	RCV000408651;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407501	139407501	9:g.139407501G>C	ClinGen:CA10602397	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=)	4851	NOTCH1	Likely benign	61751552	RCV000866649\|RCV001547628\|RCV002271091\|RCV002453969;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407507	139407507	9:g.139407507G>A	-
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=)	4851	NOTCH1	Likely benign	775162462	RCV001170160\|RCV001449119\|RCV001704544\|RCV002270458;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407513	139407513	9:g.139407513G>A	ClinGen:CA5341360	CN169374 not specified;
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=)	4851	NOTCH1	Benign/Likely benign	561956078	RCV000231578\|RCV000770640\|RCV001572372\|RCV002270036;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407552	139407552	9:g.139407552C>T	ClinGen:CA5341367	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)	4851	NOTCH1	Likely pathogenic	863224901	RCV000198418;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407560	139407560	9:g.139407560_139407560del	ClinGen:CA278995	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)	4851	NOTCH1	Benign/Likely benign	199719103	RCV000473707\|RCV000605043\|RCV002270528\|RCV002475913\|RCV003343849;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625	9	139407585	139407585	NC_000009.11:g.139407585A>G	ClinGen:CA5341375	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2353+14G>A	4851	NOTCH1	Benign/Likely benign	140288481	RCV000431530\|RCV001579562\|RCV002063628\|RCV002270482;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407830	139407830	9:g.139407830C>T	ClinGen:CA5341404	CN169374 not specified;
NM_017617.5(NOTCH1):c.2353+13C>T	4851	NOTCH1	Likely benign	200756000	RCV000614998\|RCV002064274\|RCV002270843;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407831	139407831	9:g.139407831G>A	ClinGen:CA5341405	CN169374 not specified;
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	377286829	RCV000793806\|RCV001508283\|RCV002271040;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407871	139407871	9:g.139407871C>A	-
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)	4851	NOTCH1	Benign/Likely benign	749686245	RCV000865910\|RCV001567532\|RCV002271090\|RCV003307605;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407872	139407872	9:g.139407872G>A	-
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	374434131	RCV000770641\|RCV001855990\|RCV002271033;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407900	139407900	NC_000009.11:g.139407900C>A	-
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=)	4851	NOTCH1	Likely benign	775201110	RCV000551033\|RCV001443891\|RCV002270683\|RCV002456266;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407905	139407905	9:g.139407905G>A	ClinGen:CA5341427	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1454630791	RCV000534147\|RCV001770493\|RCV002270682\|RCV002448805;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407906	139407906	NC_000009.11:g.139407906T>C	ClinGen:CA375557079	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)	4851	NOTCH1	Likely pathogenic	-1	RCV003313018;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407931	139407931		-
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)	4851	NOTCH1	Uncertain significance	587778559	RCV000121664\|RCV000557976\|RCV001545334\|RCV002269849\|RCV002313934\|RCV002508923;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0007034,MedGen:C0265268,OMIM:PS1003	9	139407932	139407934	9:g.139407932_139407934del	ClinGen:CA161155	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)	4851	NOTCH1	Benign	2229971	RCV000435319\|RCV000602700\|RCV001510322\|RCV002313081;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139407932	139407932	9:g.139407932A>G	ClinGen:CA5341428	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)	4851	NOTCH1	Uncertain significance	1284149123	RCV000770642\|RCV001799707\|RCV002271035\|RCV002271034;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139407954	139407954	NC_000009.11:g.139407954G>T	-
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)	4851	NOTCH1	Uncertain significance	200816814	RCV000545712\|RCV000764818\|RCV002270681\|RCV002420545;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243	9	139407979	139407979	NC_000009.11:g.139407979C>T	ClinGen:CA5341433	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2207+16G>A	4851	NOTCH1	Benign/Likely benign	200956009	RCV000606866\|RCV002063055\|RCV002270746\|RCV003424174;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139408946	139408946	9:g.139408946C>T	ClinGen:CA5341451	CN169374 not specified;
NM_017617.5(NOTCH1):c.2207+15C>T	4851	NOTCH1	Likely benign	187086513	RCV000609786\|RCV001580095\|RCV002064260\|RCV002270842\|RCV002491281;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139408947	139408947	9:g.139408947G>A	ClinGen:CA5341452	CN169374 not specified;
NM_017617.5(NOTCH1):c.2207+10G>A	4851	NOTCH1	Benign	191892426	RCV000228731\|RCV000426893\|RCV001170162\|RCV001579649\|RCV002270035;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139408952	139408952	NC_000009.11:g.139408952C>T	ClinGen:CA5341454	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2207+5G>A	4851	NOTCH1	Uncertain significance	1214619547	RCV000655266\|RCV001771915\|RCV002270944;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139408957	139408957	NC_000009.11:g.139408957C>T	ClinGen:CA591176721	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)	4851	NOTCH1	Benign	2229970	RCV000226163\|RCV000421870\|RCV002270034\|RCV002310825\|RCV002500803;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139408964	139408964	NC_000009.11:g.139408964G>A	ClinGen:CA5341459	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)	4851	NOTCH1	Conflicting interpretations of pathogenicity	199666126	RCV000557195\|RCV001731786\|RCV002270680\|RCV002315045;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139408978	139408978	NC_000009.11:g.139408978G>A	ClinGen:CA5341462	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)	4851	NOTCH1	Benign/Likely benign	770313470	RCV002080546\|RCV002080547\|RCV002271317;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139408994	139408994	139408994	-
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=)	4851	NOTCH1	Likely benign	376468003	RCV000862593\|RCV001170163\|RCV001532186\|RCV002270840;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409021	139409021	9:g.139409021C>T	ClinGen:CA5341470	CN169374 not specified;
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)	4851	NOTCH1	Uncertain significance	376468003	RCV001532185\|RCV001873774\|RCV002271257;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409021	139409021	139409021	-
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)	4851	NOTCH1	Benign/Likely benign	369346436	RCV000460150\|RCV000660150\|RCV001698331\|RCV002270472\|RCV002313144\|RCV003323543;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139409033	139409033	9:g.139409033G>T	ClinGen:CA5341471	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn)	4851	NOTCH1	Uncertain significance	950236535	RCV000999292\|RCV001359412\|RCV002271162;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409041	139409041	9:g.139409041C>T	-
NM_017617.5(NOTCH1):c.2127C>T (p.His709=)	4851	NOTCH1	Benign/Likely benign	755898711	RCV000459011\|RCV001170164\|RCV001696886\|RCV002270523;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409042	139409042	NC_000009.11:g.139409042G>A	ClinGen:CA5341475	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)	4851	NOTCH1	Benign/Likely benign	376744729	RCV000471034\|RCV000769597\|RCV001696885\|RCV002270515\|RCV002489122;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139409045	139409045	NC_000009.11:g.139409045G>A	ClinGen:CA5341477	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=)	4851	NOTCH1	Likely benign	757495549	RCV000655294\|RCV000842214\|RCV002270874\|RCV002315071;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409057	139409057	9:g.139409057G>A	ClinGen:CA5341481	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)	4851	NOTCH1	Likely pathogenic	-1	RCV003387570;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409057	139409057		-
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=)	4851	NOTCH1	Likely benign	200573958	RCV000556336\|RCV000660149\|RCV001424223\|RCV002270679\|RCV003302891;	N	MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409084	139409084	NC_000009.11:g.139409084G>A	ClinGen:CA5341488	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)	4851	NOTCH1	Uncertain significance	1385815860	RCV001799112\|RCV001653081\|RCV002271282\|RCV002271281;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409095	139409095	139409095	-
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)	4851	NOTCH1	Uncertain significance	764112977	RCV000788401\|RCV002270160\|RCV002270159\|RCV002310943;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409101	139409101	9:g.139409101C>T	ClinGen:CA5341494	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)	4851	NOTCH1	Benign/Likely benign	61751553	RCV000228362\|RCV000429504\|RCV000660147\|RCV000769599\|RCV001532187\|RCV002270033\|RCV002479924;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO	9	139409120	139409120	9:g.139409120C>T	ClinGen:CA5341498	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=)	4851	NOTCH1	Benign/Likely benign	367591933	RCV000543786\|RCV002270678\|RCV002315044;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409132	139409132	9:g.139409132G>A	ClinGen:CA5341502	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr)	4851	NOTCH1	Uncertain significance	587782970	RCV000143937;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409148	139409148	9:g.139409148A>G	ClinGen:CA345864	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.2014+16C>T	4851	NOTCH1	Likely benign	199814619	RCV000609484\|RCV001580060\|RCV002066870\|RCV002270868;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409726	139409726	9:g.139409726G>A	ClinGen:CA5341535	CN169374 not specified;
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	576030298	RCV001035413\|RCV001530048\|RCV002271166;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409753	139409753	9:g.139409753G>A	-
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)	4851	NOTCH1	Uncertain significance	780810308	RCV001313537\|RCV002290688;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409754	139409754	139409754	-
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	201077220	RCV000519623\|RCV000555279\|RCV001535730\|RCV002272196\|RCV002285156\|RCV002311210;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219, Orphanet:974; MONDO:MONDO:0003803,MedGen:C1260873\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|Human Phenotype Ontology:HP:000	9	139409775	139409775	9:g.139409775C>T	ClinGen:CA5341549	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)	4851	NOTCH1	Benign/Likely benign	766577980	RCV000680595\|RCV001445219\|RCV002270962;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409779	139409779	NC_000009.11:g.139409779G>T	-	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1260932753	RCV000703349\|RCV001561367\|RCV002270881\|RCV002315082;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409784	139409784	NC_000009.11:g.139409784T>C	ClinGen:CA375559188	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)	4851	NOTCH1	Benign/Likely benign	61751554	RCV000458260\|RCV001697630\|RCV002270172\|RCV002311094\|RCV003323481;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139409794	139409794	NC_000009.11:g.139409794G>A	ClinGen:CA5341553	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=)	4851	NOTCH1	Likely benign	376101458	RCV000538412\|RCV001170166\|RCV002270677;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409800	139409800	9:g.139409800C>T	ClinGen:CA5341555	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)	4851	NOTCH1	Benign/Likely benign	752168856	RCV000862234\|RCV001476758\|RCV002270434\|RCV002418320;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409803	139409803	9:g.139409803G>A	ClinGen:CA5341558	CN169374 not specified;
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=)	4851	NOTCH1	Benign/Likely benign	147086700	RCV000655267\|RCV002270182\|RCV002311161\|RCV003330615;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139409806	139409806	9:g.139409806G>A	ClinGen:CA5341559	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)	4851	NOTCH1	Benign/Likely benign	527323201	RCV000908079\|RCV001405528\|RCV002270467;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409827	139409827	9:g.139409827A>G	ClinGen:CA5341561	CN169374 not specified;
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	755740633	RCV000999293\|RCV001056561\|RCV002271163;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409832	139409832	9:g.139409832G>C	-
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=)	4851	NOTCH1	Likely benign	373068883	RCV000433084\|RCV000525839\|RCV001798760\|RCV002270191\|RCV003422187;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139409842	139409842	NC_000009.11:g.139409842G>A	ClinGen:CA5341564	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1904-16C>T	4851	NOTCH1	Likely benign	775848413	RCV000607527\|RCV002063029\|RCV002270745;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409868	139409868	9:g.139409868G>A	ClinGen:CA5341573	CN169374 not specified;
NM_017617.5(NOTCH1):c.1903+10C>G	4851	NOTCH1	Conflicting interpretations of pathogenicity	375704312	RCV000541895\|RCV000612528\|RCV002270676\|RCV003150275;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139409925	139409925	9:g.139409925G>C	ClinGen:CA5341597	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)	4851	NOTCH1	Benign/Likely benign	376726823	RCV000842560\|RCV001170167\|RCV002068627\|RCV002271079;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409969	139409969	9:g.139409969G>A	-
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)	4851	NOTCH1	Benign/Likely benign	138504021	RCV000121660\|RCV000234523\|RCV000660145\|RCV000769600\|RCV001704035\|RCV002269848;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139409976	139409976	9:g.139409976C>T	ClinGen:CA161147	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	763988265	RCV000655247\|RCV001552731\|RCV002270940;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410001	139410001	NC_000009.11:g.139410001G>A	ClinGen:CA5341621	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=)	4851	NOTCH1	Benign/Likely benign	781029850	RCV002060682\|RCV002270909\|RCV002315116;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410023	139410023	9:g.139410023G>A	ClinGen:CA5341624	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=)	4851	NOTCH1	Likely benign	925293836	RCV000899439\|RCV001443527\|RCV002270867;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410050	139410050	9:g.139410050C>T	ClinGen:CA201587082	CN169374 not specified;
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	61755997	RCV000660144\|RCV000787043\|RCV001049180\|RCV001575577\|RCV002311202;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410051	139410051	NC_000009.11:g.139410051G>A	ClinGen:CA5341627,OMIM:190198.0011	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu)	4851	NOTCH1	Uncertain significance	886039014	RCV001561515\|RCV002270167\|RCV001854980\|RCV002310965;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410060	139410060	9:g.139410060G>A	ClinGen:CA10587672	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	544117297	RCV001854993\|RCV002270184\|RCV002311177;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410063	139410063	9:g.139410063C>T	ClinGen:CA5341629	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)	4851	NOTCH1	Uncertain significance	1472690723	RCV001223355\|RCV001702090\|RCV002480736;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139410064	139410064	9:g.139410064G>A	-
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr)	4851	NOTCH1	Uncertain significance	771440130	RCV001041675\|RCV001759741\|RCV002271171;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410078	139410078	9:g.139410078A>T	-
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	775217381	RCV000522085\|RCV000655245\|RCV001798867\|RCV002270625\|RCV002506270;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139410085	139410085	9:g.139410085C>T	ClinGen:CA5341637	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)	4851	NOTCH1	Conflicting interpretations of pathogenicity	763886355	RCV001349486\|RCV001527334\|RCV002271224\|RCV002413825;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410088	139410088	139410088	-
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=)	4851	NOTCH1	Likely benign	751367001	RCV000548902\|RCV001697384\|RCV002270675;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410089	139410089	NC_000009.11:g.139410089G>A	ClinGen:CA5341639	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	757066417	RCV000769601\|RCV000794046\|RCV001759450\|RCV002271024;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410091	139410091	NC_000009.11:g.139410091C>T	-
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	778992111	RCV000769602\|RCV002271025\|RCV001869066;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139410097	139410097	NC_000009.11:g.139410097T>C	-
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)	4851	NOTCH1	Likely benign	377472138	RCV000828229\|RCV002271060\|RCV002271059;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410107	139410107	9:g.139410107G>A	-
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	373125283	RCV000494050\|RCV000541112\|RCV002270591\|RCV002404296;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410127	139410127	9:g.139410127C>T	ClinGen:CA375560379	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)	4851	NOTCH1	Benign/Likely benign	773932034	RCV001500595\|RCV002270896\|RCV002315101;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410137	139410137	NC_000009.11:g.139410137G>T	ClinGen:CA201587104	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)	4851	NOTCH1	Conflicting interpretations of pathogenicity	369067940	RCV000121657\|RCV000764819\|RCV000826311\|RCV001086273\|RCV001170168;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,O	9	139410139	139410139	9:g.139410139T>C	ClinGen:CA161141	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)	4851	NOTCH1	Benign/Likely benign	760548976	RCV000680596\|RCV002060675\|RCV002270875\|RCV002315072\|RCV003323642;	N	MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139410149	139410149	NC_000009.11:g.139410149G>A	ClinGen:CA5341658	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	560030759	RCV000687258\|RCV002397373\|RCV002493151;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139410156	139410156	NC_000009.11:g.139410156G>A	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	376055493	RCV001064894\|RCV001551775\|RCV002271178;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410162	139410162	9:g.139410162G>A	-
NM_017617.5(NOTCH1):c.1670-9A>G	4851	NOTCH1	Benign	3124603	RCV000384550\|RCV000608734\|RCV001514267;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139410177	139410177	9:g.139410177T>C	ClinGen:CA5341662	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.1670-10C>T	4851	NOTCH1	Benign/Likely benign	751747178	RCV000916178\|RCV001585867\|RCV002271113;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410178	139410178	9:g.139410178G>A	-
NM_017617.5(NOTCH1):c.1670-18G>A	4851	NOTCH1	Likely benign	375041394	RCV000425985\|RCV000660143\|RCV002056674\|RCV002270489;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410186	139410186	9:g.139410186C>T	ClinGen:CA5341664	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.1670-19C>T	4851	NOTCH1	Likely benign	377686947	RCV000602010\|RCV001580069\|RCV002066869\|RCV002270866;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410187	139410187	9:g.139410187G>A	ClinGen:CA5341665	CN169374 not specified;
NM_017617.5(NOTCH1):c.1669+13G>A	4851	NOTCH1	Benign/Likely benign	147260092	RCV000440811\|RCV000660142\|RCV002059758\|RCV002270381;	N	MedGen:CN169374\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410420	139410420	9:g.139410420C>T	ClinGen:CA5341688	C0009782 Connective tissue disorder;
NM_017617.5(NOTCH1):c.1669+9T>C	4851	NOTCH1	Benign	3125006	RCV000437412\|RCV001519883\|RCV001785613;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410424	139410424	9:g.139410424A>G	ClinGen:CA5341692	CN169374 not specified;
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)	4851	NOTCH1	Benign/Likely benign	148331061	RCV000229094\|RCV000440854\|RCV000769605\|RCV002270032\|RCV002500802\|RCV003114400;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139410437	139410437	NC_000009.11:g.139410437C>T	ClinGen:CA5341695	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	746796894	RCV000658427\|RCV000803515\|RCV002270953;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410438	139410438	9:g.139410438G>A	-	CN517202 not provided;
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=)	4851	NOTCH1	Benign/Likely benign	371634784	RCV000841945\|RCV001088296\|RCV002270530\|RCV002393200;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410452	139410452	NC_000009.11:g.139410452G>A	ClinGen:CA5341697	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)	4851	NOTCH1	Benign	11574889	RCV000206348\|RCV000434406\|RCV000769606\|RCV002270017\|RCV003422112\|RCV002500659;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028	9	139410467	139410467	NC_000009.11:g.139410467G>A	ClinGen:CA350393	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)	4851	NOTCH1	Uncertain significance	757988142	RCV000655250\|RCV002270925;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410520	139410520	9:g.139410520C>T	ClinGen:CA5341710	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=)	4851	NOTCH1	Likely benign	1299929890	RCV000606538\|RCV001475967\|RCV002270811\|RCV002404665;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139410521	139410521	9:g.139410521G>A	ClinGen:CA467833794	CN169374 not specified;
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)	4851	NOTCH1	Benign/Likely benign	572103199	RCV000457982\|RCV001170170\|RCV001721526\|RCV002270519;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410535	139410535	NC_000009.11:g.139410535G>A	ClinGen:CA5341712	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1556-9C>T	4851	NOTCH1	Benign/Likely benign	150834418	RCV000548117\|RCV001697383\|RCV002270674;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410555	139410555	NC_000009.11:g.139410555G>A	ClinGen:CA5341716	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1556-43T>C	4851	NOTCH1	Benign	4880099	RCV000838146\|RCV001785736\|RCV001785735;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139410589	139410589	9:g.139410589A>G	-
NM_017617.5(NOTCH1):c.1555+16G>A	4851	NOTCH1	Likely benign	368798926	RCV000608648\|RCV002064003\|RCV002270784;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139411708	139411708	9:g.139411708C>T	ClinGen:CA5341740	CN169374 not specified;
NM_017617.5(NOTCH1):c.1555+10A>G	4851	NOTCH1	Benign	11145767	RCV000283888\|RCV000616716\|RCV001514268;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139411714	139411714	9:g.139411714T>C	ClinGen:CA5341745	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	749085650	RCV000414177\|RCV001300961\|RCV002270242;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139411736	139411736	9:g.139411736C>G	ClinGen:CA5341753	CN169374 not specified;
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)	4851	NOTCH1	Uncertain significance	-1	RCV003147925;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139411737	139411737		-
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)	4851	NOTCH1	Benign/Likely benign	201768800	RCV000234132\|RCV000597266\|RCV001705280\|RCV002270031\|RCV002392713;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139411768	139411768	9:g.139411768C>T	ClinGen:CA5341763	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	752071569	RCV000559630\|RCV001557872\|RCV002270673\|RCV002395494;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139411769	139411769	NC_000009.11:g.139411769G>A	ClinGen:CA5341764	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=)	4851	NOTCH1	Likely benign	757373430	RCV000769607\|RCV001450137\|RCV002271026;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139411833	139411833	NC_000009.11:g.139411833G>A	-
NM_017617.5(NOTCH1):c.1442-43C>T	4851	NOTCH1	Benign	9411254	RCV000838147\|RCV001785737\|RCV001785738;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139411880	139411880	9:g.139411880G>A	-
NM_017617.5(NOTCH1):c.1441+7C>T	4851	NOTCH1	Benign	9411208	RCV000429617\|RCV000603198\|RCV001519884;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139412197	139412197	9:g.139412197G>A	ClinGen:CA5341808	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)	4851	NOTCH1	Benign/Likely benign	61751555	RCV000558570\|RCV001696789\|RCV002270485\|RCV002393061\|RCV002506081;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139412205	139412205	9:g.139412205G>A	ClinGen:CA5341811	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)	4851	NOTCH1	Likely benign	1405995623	RCV000828379\|RCV002067482\|RCV002271061;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412238	139412238	9:g.139412238G>A	-
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)	4851	NOTCH1	Benign/Likely benign	61733293	RCV000476306\|RCV000660141\|RCV001704501\|RCV002270431\|RCV002313120;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139412256	139412256	9:g.139412256G>A	ClinGen:CA5341819	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)	4851	NOTCH1	Conflicting interpretations of pathogenicity	761629787	RCV001752318\|RCV001882845\|RCV002271292;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412288	139412288	139412288	-
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=)	4851	NOTCH1	Likely benign	564566136	RCV001564429\|RCV002271261\|RCV002072152;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139412310	139412310	139412310	-
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	200562991	RCV000687329\|RCV000764820\|RCV001662668\|RCV002315140;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139412350	139412350	9:g.139412350G>A	ClinGen:CA5341838	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=)	4851	NOTCH1	Likely benign	781782610	RCV000428466\|RCV001406805\|RCV002270490\|RCV003431015;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139412367	139412367	9:g.139412367C>T	ClinGen:CA5341839	CN169374 not specified;
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)	4851	NOTCH1	Likely benign	377342874	RCV000951809\|RCV001704540\|RCV002270457\|RCV002446746;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139412373	139412373	9:g.139412373C>T	ClinGen:CA5341841	CN169374 not specified;
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)	4851	NOTCH1	Likely benign	762533002	RCV002480979\|RCV002079501;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139412379	139412379	139412379	-
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)	4851	NOTCH1	Uncertain significance	928512979	RCV001860402\|RCV002270902\|RCV002315108;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139412383	139412383	9:g.139412383T>C	ClinGen:CA201587577	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.1256-15G>A	4851	NOTCH1	Conflicting interpretations of pathogenicity	200086842	RCV001335841\|RCV002070206;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139412404	139412404	139412404	-
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	757631575	RCV000655265\|RCV001281020\|RCV001766427\|RCV002270943\|RCV002406493;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139412594	139412594	9:g.139412594G>A	ClinGen:CA5341876	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)	4851	NOTCH1	Uncertain significance	1843307597	RCV001035888\|RCV001759726\|RCV002271167;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412602	139412602	9:g.139412602A>C	-
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	373770404	RCV000700880\|RCV000769608\|RCV002270970;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412607	139412607	9:g.139412607C>T	-	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)	4851	NOTCH1	Conflicting interpretations of pathogenicity	754529382	RCV000205720\|RCV003137790;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412624	139412624	NC_000009.11:g.139412624G>C	ClinGen:CA349836	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity; other	754529382	RCV000788985\|RCV001856231\|RCV002352303\|RCV002271039\|RCV003159074;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0006533,MeSH:D018424,MedGen:C0155490	9	139412624	139412624	9:g.139412624G>A	-
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)	4851	NOTCH1	Uncertain significance	1037236860	RCV000523401\|RCV000700981\|RCV002270632;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412639	139412639	9:g.139412639G>A	ClinGen:CA201587612	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)	4851	NOTCH1	Benign/Likely benign	368665838	RCV000472213\|RCV001170171\|RCV001704512\|RCV002270440;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412698	139412698	9:g.139412698G>A	ClinGen:CA5341900	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=)	4851	NOTCH1	Likely benign	371954544	RCV000469932\|RCV001798848\|RCV002270518\|RCV002270517;	N	MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412719	139412719	NC_000009.11:g.139412719T>C	ClinGen:CA5341903	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)	4851	NOTCH1	Benign/Likely benign	192683347	RCV000227593\|RCV000596170\|RCV001705279\|RCV002270030\|RCV002313946;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139412722	139412722	NC_000009.11:g.139412722G>A	ClinGen:CA5341904	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1100-14C>T	4851	NOTCH1	Benign/Likely benign	562148507	RCV000601407\|RCV002065287\|RCV002270790;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412758	139412758	9:g.139412758G>A	ClinGen:CA5341910	CN169374 not specified;
NM_017617.5(NOTCH1):c.1100-16G>C	4851	NOTCH1	Benign	146815871	RCV000440438\|RCV002063582\|RCV002270461;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139412760	139412760	9:g.139412760C>G	ClinGen:CA5341911	CN169374 not specified;
NM_017617.5(NOTCH1):c.1099+9C>T	4851	NOTCH1	Likely benign	1057523772	RCV000438284\|RCV002059990\|RCV002270445;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413034	139413034	9:g.139413034G>A	ClinGen:CA16606461	CN169374 not specified;
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	775991013	RCV000655244\|RCV001584514\|RCV002270939;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413048	139413048	NC_000009.11:g.139413048C>T	ClinGen:CA375565237	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)	4851	NOTCH1	Uncertain significance	1843316084	RCV001335840;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413070	139413072	139413069	-
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)	4851	NOTCH1	Uncertain significance	1843316172	RCV001763046\|RCV001799121\|RCV002271291\|RCV002271290;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413072	139413072	139413072	-
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)	4851	NOTCH1	Benign/Likely benign	200520088	RCV000988302\|RCV000769610\|RCV002271027;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413097	139413097	NC_000009.11:g.139413097T>G	-
NM_017617.5(NOTCH1):c.1038C>T (p.His346=)	4851	NOTCH1	Benign/Likely benign	376951155	RCV000460083\|RCV001170172\|RCV001697699\|RCV002270194;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413104	139413104	NC_000009.11:g.139413104G>A	ClinGen:CA5341952	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)	4851	NOTCH1	Conflicting interpretations of pathogenicity	779061035	RCV001773334\|RCV002271298\|RCV001868654;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139413142	139413142	139413142	-
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)	4851	NOTCH1	Benign/Likely benign	746111102	RCV000655276\|RCV000680597\|RCV002270946\|RCV002386125\|RCV003424260;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139413167	139413167	9:g.139413167G>A	ClinGen:CA5341966	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=)	4851	NOTCH1	Benign/Likely benign	201158068	RCV000606281\|RCV000867381\|RCV000769611\|RCV002270822;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413179	139413179	9:g.139413179G>A	ClinGen:CA5341967	CN169374 not specified;
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)	4851	NOTCH1	Uncertain significance	749696049	RCV001771834\|RCV001860404\|RCV002270912\|RCV002315125;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139413193	139413193	9:g.139413193C>T	ClinGen:CA5341970	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)	4851	NOTCH1	Benign/Likely benign	143654474	RCV000463513\|RCV000603896\|RCV000769612\|RCV002270526\|RCV002475912;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139413269	139413269	NC_000009.11:g.139413269G>A	ClinGen:CA5341987	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.865+18C>T	4851	NOTCH1	Benign/Likely benign	55677618	RCV000605391\|RCV002064338\|RCV002270857;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139413877	139413877	9:g.139413877G>A	ClinGen:CA5342017	CN169374 not specified;
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)	4851	NOTCH1	Benign	2229975	RCV000418721\|RCV000609106\|RCV001519885\|RCV002313079;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139413908	139413908	9:g.139413908C>T	ClinGen:CA5342024	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	376104770	RCV000537829\|RCV001815410\|RCV002270714\|RCV002315062;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139413909	139413909	NC_000009.11:g.139413909G>A	ClinGen:CA5342025	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	367825691	RCV000471470\|RCV000764821\|RCV002270509\|RCV002253448\|RCV002436431\|RCV003330695;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202\|MONDO:MONDO:0019625	9	139413921	139413921	NC_000009.11:g.139413921T>C	ClinGen:CA5342028	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)	4851	NOTCH1	Uncertain significance	369721921	RCV000121710\|RCV001237666\|RCV001562983\|RCV002269869\|RCV002483224\|RCV003407520;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|	9	139413934	139413934	9:g.139413934C>T	ClinGen:CA161247	CN169374 not specified;
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	371333249	RCV000460912\|RCV001584157\|RCV002270497\|RCV002411472;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139413937	139413937	NC_000009.11:g.139413937C>T	ClinGen:CA5342031	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)	4851	NOTCH1	Conflicting interpretations of pathogenicity	763187824	RCV000523362\|RCV000764822\|RCV001054792\|RCV002270168\|RCV002310968\|RCV003409382;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625	9	139413985	139413985	9:g.139413985C>T	ClinGen:CA5342042	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)	4851	NOTCH1	Uncertain significance	755667439	RCV000456752\|RCV002223848\|RCV002270501;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139414009	139414009	NC_000009.11:g.139414009C>T	ClinGen:CA5342048	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)	4851	NOTCH1	Benign/Likely benign	375772590	RCV000530247\|RCV001591308\|RCV002270711\|RCV002315059\|RCV003323618;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139414010	139414010	9:g.139414010G>T	ClinGen:CA5342049	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.743-4G>T	4851	NOTCH1	Benign/Likely benign	748001079	RCV000232196\|RCV001697266\|RCV002270066\|RCV002313958\|RCV003323471;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	9	139414021	139414021	9:g.139414021C>A	ClinGen:CA5342053	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.743-14C>T	4851	NOTCH1	Benign/Likely benign	536768165	RCV001555446\|RCV002072075\|RCV002271260;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139414031	139414031	139414031	-
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)	4851	NOTCH1	Benign	61751557	RCV000178308\|RCV000228554\|RCV002310743\|RCV002269962\|RCV002492781;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139417333	139417333	9:g.139417333G>A	ClinGen:CA202813	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	537766290	RCV000655242\|RCV001756111\|RCV002270938;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417337	139417337	9:g.139417337G>A	ClinGen:CA5342099	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=)	4851	NOTCH1	Likely benign	535217359	RCV000470400\|RCV000600171\|RCV002270547;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417357	139417357	NC_000009.11:g.139417357G>A	ClinGen:CA5342101	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)	4851	NOTCH1	Uncertain significance	553542677	RCV000815491\|RCV001545874\|RCV002271047\|RCV002372300;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417370	139417370	9:g.139417370G>C	-
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=)	4851	NOTCH1	Likely benign	777019253	RCV000973035\|RCV002271141\|RCV002271140;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417372	139417372	9:g.139417372G>A	-
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)	4851	NOTCH1	Benign	11574872	RCV000230337\|RCV000602843\|RCV000769614\|RCV002270059;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417381	139417381	NC_000009.11:g.139417381G>A	ClinGen:CA5342106	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1401319182	RCV001219136\|RCV002248818\|RCV002270901\|RCV002315105;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417412	139417412	9:g.139417412G>C	ClinGen:CA375569763	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=)	4851	NOTCH1	Likely benign	756164624	RCV000461673\|RCV002063680\|RCV002270538\|RCV002313219;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417423	139417423	NC_000009.11:g.139417423G>A	ClinGen:CA5342113	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)	4851	NOTCH1	Uncertain significance	779118023	RCV001224948\|RCV001587253\|RCV002271197;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417424	139417424	9:g.139417424C>T	-
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)	4851	NOTCH1	Likely benign	182763411	RCV000121708\|RCV000841472\|RCV001087556\|RCV002269868\|RCV002354306;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417436	139417436	9:g.139417436C>T	ClinGen:CA161243	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.597C>T (p.Val199=)	4851	NOTCH1	Likely benign	747342494	RCV001455976\|RCV001570101\|RCV002270899\|RCV002315103;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417447	139417447	NC_000009.11:g.139417447G>A	ClinGen:CA5342117	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=)	4851	NOTCH1	Benign/Likely benign	370684825	RCV000530850\|RCV001697417\|RCV001798896\|RCV002270704;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417453	139417453	NC_000009.11:g.139417453G>A	ClinGen:CA5342118	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)	4851	NOTCH1	Uncertain significance	760005580	RCV001759730\|RCV002354983\|RCV002271168\|RCV001037840;	N	MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139417463	139417463	9:g.139417463G>A	-
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)	4851	NOTCH1	Benign/Likely benign	770333242	RCV000988305\|RCV001170710\|RCV002271146;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417464	139417464	9:g.139417464T>G	-
NM_017617.5(NOTCH1):c.573C>T (p.His191=)	4851	NOTCH1	Benign/Likely benign	763733336	RCV001465709\|RCV002270906\|RCV002315112;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417471	139417471	NC_000009.11:g.139417471G>A	ClinGen:CA5342127	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)	4851	NOTCH1	Uncertain significance	750295442	RCV001197227;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417485	139417485	9:g.139417485C>T	-
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=)	4851	NOTCH1	Likely benign	756111268	RCV000842509\|RCV001078618\|RCV001798755\|RCV002270175;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417486	139417486	NC_000009.11:g.139417486G>A	ClinGen:CA10587674	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)	4851	NOTCH1	Conflicting interpretations of pathogenicity	375065108	RCV000466090\|RCV001508285\|RCV002270502\|RCV002285159\|RCV002348312;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|Human Phenotype Ontology:HP:0002092,Human Phenotype Ontology:HP:0006546,MONDO:MONDO:0015924,MeSH:D000081029,MedGen:C2973725,Orph	9	139417517	139417517	NC_000009.11:g.139417517C>T	ClinGen:CA5342134	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)	4851	NOTCH1	Conflicting interpretations of pathogenicity	370951369	RCV001170711\|RCV002260652\|RCV002270895\|RCV002270894;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417544	139417544	NC_000009.11:g.139417544G>A	ClinGen:CA5342140	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	750242131	RCV000476532\|RCV001805069\|RCV001798838\|RCV002270507;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417590	139417590	NC_000009.11:g.139417590C>T	ClinGen:CA5342147	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)	4851	NOTCH1	Uncertain significance	766362765	RCV000822286\|RCV002223955\|RCV002271051\|RCV002336712;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139417592	139417592	9:g.139417592T>C	-
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	372660483	RCV001220402\|RCV001508286\|RCV002271196;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417596	139417596	9:g.139417596C>T	-
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)	4851	NOTCH1	Uncertain significance; other	1388726872	RCV001343127\|RCV001751670\|RCV002271223\|RCV002329320\|RCV003159076;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0006533,MeSH:D018424,MedGen:C0155490	9	139417611	139417611	139417611	-
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)	4851	NOTCH1	Benign/Likely benign	373713957	RCV000232818\|RCV000428430\|RCV001170712\|RCV001573043\|RCV002270045;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417612	139417612	NC_000009.11:g.139417612G>A	ClinGen:CA5342153	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=)	4851	NOTCH1	Likely benign	560826996	RCV000600576\|RCV002270804\|RCV002325168\|RCV002270805;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139417633	139417633	9:g.139417633C>T	ClinGen:CA5342158	CN169374 not specified;
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=)	4851	NOTCH1	Likely benign	769259782	RCV001438485\|RCV001545155\|RCV002271242;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417636	139417636	139417636	-
NM_017617.5(NOTCH1):c.404-5T>C	4851	NOTCH1	Likely benign	1229789449	RCV000609041\|RCV001496944\|RCV002270752;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417645	139417645	9:g.139417645A>G	ClinGen:CA658797367	CN169374 not specified;
NM_017617.5(NOTCH1):c.404-13C>G	4851	NOTCH1	Likely benign	766360723	RCV001698075\|RCV002065380\|RCV002270810;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139417653	139417653	9:g.139417653G>C	ClinGen:CA5342163	CN169374 not specified;
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)	4851	NOTCH1	Benign/Likely benign	61751559	RCV000457357\|RCV001798849\|RCV001721530\|RCV002270535\|RCV003330708;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139418182	139418182	NC_000009.11:g.139418182C>T	ClinGen:CA5342189	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.389del (p.Pro130fs)	4851	NOTCH1	Likely pathogenic	1843413593	RCV001255179;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139418183	139418183	9:g.139418183_139418183del	-
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)	4851	NOTCH1	Conflicting interpretations of pathogenicity	754086897	RCV000430313\|RCV000558664\|RCV002270484;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139418189	139418189	9:g.139418189C>T	ClinGen:CA5342193	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)	4851	NOTCH1	Benign/Likely benign	187473846	RCV000121694\|RCV000226352\|RCV001170713\|RCV001572783\|RCV002269863;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139418204	139418204	9:g.139418204G>A	ClinGen:CA161215	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)	4851	NOTCH1	Likely benign	768642611	RCV000903848\|RCV002271110\|RCV002271109;	N	MedGen:CN517202\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139418221	139418221	9:g.139418221G>A	-
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)	4851	NOTCH1	Uncertain significance	768625801	RCV000522642\|RCV001199078\|RCV001851497\|RCV002323887;	N	MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139418237	139418237	9:g.139418237C>T	ClinGen:CA5342204	CN169374 not specified;
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)	4851	NOTCH1	Benign	4489420	RCV000367819\|RCV000615067\|RCV001519886\|RCV002314019;	N	MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139418260	139418260	9:g.139418260A>G	ClinGen:CA5342208	C1260873 109730 Aortic valve disorder;
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)	4851	NOTCH1	Benign/Likely benign	199654211	RCV000121692\|RCV000228385\|RCV000660138\|RCV001170714\|RCV002269862\|RCV003422001;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:C3661900	9	139418261	139418261	9:g.139418261T>C	ClinGen:CA161211	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)	4851	NOTCH1	Uncertain significance	1554730737	RCV000700446\|RCV002270915\|RCV002315128\|RCV003235312;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	9	139418302	139418303	NC_000009.11:g.139418302_139418303delinsCA	ClinGen:CA658797368	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)	4851	NOTCH1	Benign/Likely benign	191357265	RCV000436384\|RCV001086567\|RCV002270247\|RCV002314122\|RCV002502458;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730; MONDO:MONDO:001	9	139418309	139418309	9:g.139418309C>T	ClinGen:CA5342214	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	571831870	RCV000494580\|RCV000701769\|RCV002270589\|RCV002431437;	N	MedGen:C3661900\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139418328	139418328	9:g.139418328C>T	ClinGen:CA5342218	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)	4851	NOTCH1	Uncertain significance	768517628	RCV002476206\|RCV000527952;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974	9	139418336	139418336	NC_000009.11:g.139418336C>T	ClinGen:CA5342220	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)	4851	NOTCH1	Likely benign	763414200	RCV000769617\|RCV002061044\|RCV002271028;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139418362	139418362	NC_000009.11:g.139418362G>A	-
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)	4851	NOTCH1	Benign/Likely benign	374320445	RCV000469297\|RCV000680598\|RCV001170715\|RCV001721531\|RCV002270545\|RCV003323556;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN169374	9	139418386	139418386	NC_000009.11:g.139418386C>G	ClinGen:CA5342231	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)	4851	NOTCH1	Benign/Likely benign	373793124	RCV000461559\|RCV001579473\|RCV002270514\|RCV002313213;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139418407	139418407	NC_000009.11:g.139418407C>T	ClinGen:CA5342236	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)	4851	NOTCH1	Conflicting interpretations of pathogenicity	757497167	RCV000477441\|RCV001170716\|RCV002270499\|RCV003133272;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MedGen:CN517202	9	139418415	139418415	NC_000009.11:g.139418415C>T	ClinGen:CA5342237	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)	4851	NOTCH1	Benign/Likely benign	536299678	RCV000464964\|RCV001704575\|RCV002270542\|RCV002313221;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139418416	139418416	NC_000009.11:g.139418416G>A	ClinGen:CA5342238	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=)	4851	NOTCH1	Benign/Likely benign	1207676067	RCV002060678\|RCV002270892\|RCV002315099;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139438493	139438493	NC_000009.11:g.139438493A>G	ClinGen:CA467727049	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=)	4851	NOTCH1	Benign/Likely benign	375506915	RCV000602206\|RCV001488804\|RCV002270775\|RCV002315912;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139438502	139438502	9:g.139438502T>C	ClinGen:CA5342257	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)	4851	NOTCH1	Benign/Likely benign	114832250	RCV000121673\|RCV000232532\|RCV000769618\|RCV001573152\|RCV002269851;	N	MedGen:CN169374\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139438552	139438552	9:g.139438552G>A	ClinGen:CA161173	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.62-8C>T	4851	NOTCH1	Benign	202023246	RCV000227116\|RCV000430700\|RCV002270057;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MedGen:CN169374\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139438562	139438562	9:g.139438562G>A	ClinGen:CA5342264	C4014970 616028 Adams-Oliver syndrome 5;
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)	4851	NOTCH1	Uncertain significance	1554733799	RCV001855279\|RCV002270877\|RCV002315077;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139440180	139440180	NC_000009.11:g.139440180C>A	ClinGen:CA375579751	CN230736 Cardiovascular phenotype;
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)	4851	NOTCH1	Conflicting interpretations of pathogenicity	754613772	RCV001648232\|RCV002284222\|RCV002072991\|RCV002271280;	N	MedGen:C3661900\|MONDO:MONDO:0019452,MedGen:C1333046, Orphanet:86830\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	9	139440187	139440187	139440187	-
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	4851	NOTCH1	Uncertain significance	1473062369	RCV001765924\|RCV002271297\|RCV002503231\|RCV002458593\|RCV001868647;	N	MedGen:C3661900\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974; MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:001	9	139440204	139440204	139440204	-
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)	4851	NOTCH1	Conflicting interpretations of pathogenicity	1397523469	RCV000802034\|RCV002270917\|RCV002315134;	N	MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028, Orphanet:974\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	9	139440220	139440220	NC_000009.11:g.139440220G>A	ClinGen:CA375579885	CN230736 Cardiovascular phenotype;
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	4091	SMAD6	Uncertain significance	1246889300	RCV000538622\|RCV000787045\|RCV000760748\|RCV000770952\|RCV001799680;	N	MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795, Orphanet:284984\|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823\|MedGen:CN517202\|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|Human Phenotype Ontology:HP:0002974,Human Phenotype Ontology:HP:0003962,MONDO	15	66995638	66995638	NC_000015.9:g.66995638G>A	ClinGen:CA392948349,OMIM:602931.0006	C3151087 613795 Loeys-Dietz syndrome 3;
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala)	4091	SMAD6	Uncertain significance	768542939	RCV000770953;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	15	66996207	66996207	NC_000015.9:g.66996207G>C	-
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)	4091	SMAD6	Uncertain significance	1395007983	RCV000770954;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	15	66996287	66996287	NC_000015.9:g.66996287C>G	-
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)	4091	SMAD6	Uncertain significance	1419095990	RCV000770955;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	15	66996288	66996288	NC_000015.9:g.66996288G>C	-
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)	4091	SMAD6	Pathogenic	1567092020	RCV000770958;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	15	66996366	66996366	NC_000015.9:g.66996366C>T	-
NM_005585.5(SMAD6):c.794del (p.His265fs)	4091	SMAD6	Conflicting interpretations of pathogenicity	1567092071	RCV000770956\|RCV000787046;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823	15	66996390	66996390	NC_000015.9:g.66996390del	OMIM:602931.0007
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)	4091	SMAD6	Likely pathogenic	900988907	RCV000770957;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	15	67073386	67073386	NC_000015.9:g.67073386C>A	-
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)	57057	TBX20	Uncertain significance	760169368	RCV000770950\|RCV002477671\|RCV002343591;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0012654,MedGen:C1969657,OMIM:611363, Orphanet:1478\|MedGen:CN230736	7	35288301	35288301	NC_000007.13:g.35288301G>A	-
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala)	57057	TBX20	Uncertain significance	201782046	RCV000770949;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	7	35288307	35288307	NC_000007.13:g.35288307T>G	-
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)	57057	TBX20	Likely pathogenic	766692577	RCV000770948\|RCV002272337;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730\|MONDO:MONDO:0012654,MedGen:C1969657,OMIM:611363, Orphanet:1478	7	35289569	35289569	NC_000007.13:g.35289569G>T	-
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)	57057	TBX20	Uncertain significance	1562569196	RCV000770947;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	7	35293115	35293115	NC_000007.13:g.35293115G>C	-
GRCh37/hg19 19p12(chr19:20834979-20987550)	199777	ZNF626	Uncertain significance	-1	RCV000770944;	N	MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730	19	20826692	21001965		-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen