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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Carcinoma, Basal Cell (D002280)
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Odontogenic Cysts (D009807)
..Starting node ..Basal Cell Nevus Syndrome (D001478)
Child Nodes:
........Aloi Tomasini Isaia syndrome (C537049)
Sister Nodes:
..Basal Cell Nevus Syndrome (D001478) 1
..Dentigerous Cyst (D003803)
..Odontogenic Cyst, Calcifying (D018333)
..Periodontal Cyst (D010509) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1185

Name:

Basal Cell Nevus Syndrome

Definition:

Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.

Alternative IDs:

OMIM:109400

ParentIDs:

MESH:D000015|MESH:D001848|MESH:D002280|MESH:D009386|MESH:D009807

TreeNumbers:

C04.182.089.530.690.150 |C04.557.470.200.165.150 |C04.557.470.565.165.150 |C04.700.175 |C05.116.099.105 |C05.500.470.690.150 |C07.320.450.670.130 |C16.131.077.130 |C16.320.700.175

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease

Reference:

MedGen: D001478
MeSH: D001478
OMIM: 109400;

Genes: PTCH1; PTCH2; SUFU;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000766	Abnormal sternum morphology
3	HP:0002671	Basal cell carcinoma
4	HP:0000892	Bifid ribs
5	HP:0001156	Brachydactyly
6	HP:0005449	Bridged sella turcica
7	HP:0000283	Broad face
8	HP:0005462	Calcification of falx cerebri
9	HP:0010617	Cardiac fibroma
10	HP:0009729	Cardiac rhabdomyoma
11	HP:0000518	Cataract
12	HP:0000175	Cleft palate
13	HP:0000204	Cleft upper lip
14	HP:0000280	Coarse facial features
15	HP:0200021	Down-sloping shoulders
16	HP:0002007	Frontal bossing
17	HP:0000501	Glaucoma
18	HP:0004795	Hamartomatous stomach polyps
19	HP:0002937	Hemivertebrae
20	HP:0001425	Heterogeneous
21	HP:0000238	Hydrocephalus
22	HP:0000316	Hypertelorism
23	HP:0001249	Intellectual disability	HP:0040283
24	HP:0000612	Iris coloboma
25	HP:0004280	Irregular ossification of hand bones
26	HP:0002751	Kyphoscoliosis
27	HP:0000256	Macrocephaly
28	HP:0000303	Mandibular prognathia
29	HP:0002885	Medulloblastoma
30	HP:0000568	Microphthalmia
31	HP:0001056	Milia
32	HP:0001270	Motor delay
33	HP:0010603	Odontogenic keratocysts of the jaw
34	HP:0001144	Orbital cyst
35	HP:0025318	Ovarian carcinoma
36	HP:0010618	Ovarian fibroma
37	HP:0010610	Palmar pits
38	HP:0000242	Parietal bossing
39	HP:0010612	Plantar pits
40	HP:0010442	Polydactyly
41	HP:0002650	Scoliosis
42	HP:0010044	Short 4th metacarpal
43	HP:0009650	Short distal phalanx of the thumb
44	HP:0000773	Short ribs
45	HP:0010609	Skin tags
46	HP:0002414	Spina bifida
47	HP:0000912	Sprengel anomaly
48	HP:0000486	Strabismus
49	HP:0005815	Supernumerary ribs
50	HP:0003828	Variable expressivity
51	HP:0002948	Vertebral fusion
52	HP:0008422	Vertebral wedging
53	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000264.3(PTCH1):c.2560+9_2560+10delGCinsCT	-1	-	Likely benign	863224349	RCV000198408;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229388	98229389	NM_000264.3:c.2560+9_2560+10delGCinsCT		NC_000009.11:g.98229388_98229389delGCinsAG	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2560+8_2560+9delGGinsAC	-1	-	Likely benign	863224348	RCV000196224;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229389	98229390	NM_000264.3:c.2560+8_2560+9delGGinsAC		NC_000009.11:g.98229389_98229390delCCinsGT	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2560+8G>A	-1	-	Benign	201541845	RCV000123014; RCV000210821;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C0027672,SNOMED CT:699346009	9	98229390	98229390	NM_000264.3:c.2560+8G>A		NC_000009.11:g.98229390C>T	-	C0004779 109400 Gorlin syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000264.3(PTCH1):c.2560+7C>T	-1	-	Benign	75576651	RCV000123013;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229391	98229391	NM_000264.3:c.2560+7C>T		NC_000009.11:g.98229391G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2539_2542delTACTinsAG (p.Tyr847Serfs)	-1	-	Pathogenic	863225467	RCV000202420;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229416	98229419	NM_000264.3:c.2539_2542delTACTinsAG	NP_000255.2:p.Tyr847Serfs	NC_000009.11:g.98229416_98229419delAGTAinsCT	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2541C>T (p.Tyr847=)	-1	-	Likely benign	863224347	RCV000200833;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229417	98229417	NM_000264.3:c.2541C>T	NP_000255.2:p.Tyr847=	NC_000009.11:g.98229417G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2506G>A (p.Glu836Lys)	-1	-	Uncertain significance	78708791	RCV000204507;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229452	98229452	NM_000264.3:c.2506G>A	NP_000255.2:p.Glu836Lys	NC_000009.11:g.98229452C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2495T>A (p.Val832Asp)	-1	-	Uncertain significance	786204167	RCV000168180;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229463	98229463	NM_000264.3:c.2495T>A	NP_000255.2:p.Val832Asp	NC_000009.11:g.98229463A>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2485G>A (p.Val829Met)	-1	-	Uncertain significance	201125580	RCV000168321; RCV000034566;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN221809	9	98229473	98229473	NM_000264.3:c.2485G>A	NP_000255.2:p.Val829Met	NC_000009.11:g.98229473C>T	-	C0004779 109400 Gorlin syndrome; CN221809 not provided
NM_000264.3(PTCH1):c.2484C>T (p.Asn828=)	-1	-	Likely benign	143305989	RCV000123011;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229474	98229474	NM_000264.3:c.2484C>T	NP_000255.2:p.Asn828=	NC_000009.11:g.98229474G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2479A>G (p.Ser827Gly)	-1	-	Benign;Pathogenic;Uncertain significance	199476092	RCV000123010; RCV000008706; RCV000034565; RCV000121886;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C1835820,OMIM:610828; MedGen:CN169374; MedGen:CN221809	9	98229479	98229479	NM_000264.3:c.2479A>G	NP_000255.2:p.Ser827Gly	NC_000009.11:g.98229479T>C	OMIM Allelic Variant:601309.0013	C0004779 109400 Gorlin syndrome; C1835820 610828 Holoprosencephaly 7; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.2469C>T (p.His823=)	-1	-	Likely benign	761707282	RCV000205377;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229489	98229489	NM_000264.3:c.2469C>T	NP_000255.2:p.His823=	NC_000009.11:g.98229489G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2440A>C (p.Asn814His)	-1	-	Uncertain significance	754623561	RCV000168036;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229518	98229518	NM_000264.3:c.2440A>C	NP_000255.2:p.Asn814His	NC_000009.11:g.98229518T>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2319C>T (p.Asp773=)	-1	-	Likely benign	141134542	RCV000198611;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229639	98229639	NM_000264.3:c.2319C>T	NP_000255.2:p.Asp773=	NC_000009.11:g.98229639G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2306C>T (p.Thr769Ile)	-1	-	Uncertain significance	755391704	RCV000211475;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229652	98229652	NM_000264.3:c.2306C>T	NP_000255.2:p.Thr769Ile	NC_000009.11:g.98229652G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2304C>T (p.Thr768=)	-1	-	Likely benign	1805156	RCV000123009;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229654	98229654	NM_000264.3:c.2304C>T	NP_000255.2:p.Thr768=	NC_000009.11:g.98229654G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2272C>T (p.Leu758=)	-1	-	Likely benign	863224346	RCV000196423;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98229686	98229686	NM_000264.3:c.2272C>T	NP_000255.2:p.Leu758=	NC_000009.11:g.98229686G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2222C>T (p.Ala741Val)	-1	-	Benign	2227971	RCV000123008; RCV000121885;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98231061	98231061	NM_000264.3:c.2222C>T	NP_000255.2:p.Ala741Val	NC_000009.11:g.98231061G>A	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.2215_2216delCAinsTT (p.His739Phe)	-1	-	Uncertain significance	864622295	RCV000206147;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231067	98231068	NM_000264.3:c.2215_2216delCAinsTT	NP_000255.2:p.His739Phe	NC_000009.11:g.98231067_98231068delTGinsAA	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2199A>G (p.Ser733=)	-1	-	Benign	2227970	RCV000119128;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231084	98231084	NM_000264.3:c.2199A>G	NP_000255.2:p.Ser733=	NC_000009.11:g.98231084T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met)	-1	-	Benign;Pathogenic;Uncertain significance	115556836	RCV000206005; RCV000008705; RCV000034564; RCV000078462;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C1835820,OMIM:610828; MedGen:CN169374; MedGen:CN221809	9	98231100	98231100	NM_000264.3:c.2183C>T	NP_000255.2:p.Thr728Met	NC_000009.11:g.98231100G>A	HGMD:CM020751,OMIM Allelic Variant:601309.0012	C0004779 109400 Gorlin syndrome; C1835820 610828 Holoprosencephaly 7; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.2177C>G (p.Pro726Arg)	-1	-	Benign	587780697	RCV000123007;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231106	98231106	NM_000264.3:c.2177C>G	NP_000255.2:p.Pro726Arg	NC_000009.11:g.98231106G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2173C>T (p.Pro725Ser)	-1	-	Likely benign;Uncertain significance	149258400	RCV000123006; RCV000034563; RCV000121884;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374; MedGen:CN221809	9	98231110	98231110	NM_000264.3:c.2173C>T	NP_000255.2:p.Pro725Ser	NC_000009.11:g.98231110G>A	-	C0004779 109400 Gorlin syndrome; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.2134C>T (p.Leu712Phe)	-1	-	Uncertain significance	587780696	RCV000123005;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231149	98231149	NM_000264.3:c.2134C>T	NP_000255.2:p.Leu712Phe	NC_000009.11:g.98231149G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2124A>G (p.Thr708=)	-1	-	Likely benign	147204440	RCV000199669;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231159	98231159	NM_000264.3:c.2124A>G	NP_000255.2:p.Thr708=	NC_000009.11:g.98231159T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2105C>G (p.Pro702Arg)	-1	-	Uncertain significance	368362152	RCV000161923;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231178	98231178	NM_000264.3:c.2105C>G	NP_000255.2:p.Pro702Arg	NC_000009.11:g.98231178G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2073C>T (p.Thr691=)	-1	-	Likely benign	371643436	RCV000198652;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231210	98231210	NM_000264.3:c.2073C>T	NP_000255.2:p.Thr691=	NC_000009.11:g.98231210G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2050G>A (p.Glu684Lys)	-1	-	Likely benign	62637629	RCV000196458;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231233	98231233	NM_000264.3:c.2050G>A	NP_000255.2:p.Glu684Lys	NC_000009.11:g.98231233C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2035G>A (p.Ala679Thr)	-1	-	Uncertain significance	771882746	RCV000195690;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231248	98231248	NM_000264.3:c.2035G>A	NP_000255.2:p.Ala679Thr	NC_000009.11:g.98231248C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2034C>T (p.Thr678=)	-1	-	Likely benign	779883480	RCV000199694;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231249	98231249	NM_000264.3:c.2034C>T	NP_000255.2:p.Thr678=	NC_000009.11:g.98231249G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2019C>T (p.His673=)	-1	-	Likely benign	587780695	RCV000123004;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231264	98231264	NM_000264.3:c.2019C>T	NP_000255.2:p.His673=	NC_000009.11:g.98231264G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2004C>T (p.Tyr668=)	-1	-	Benign	151216961	RCV000123003;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231279	98231279	NM_000264.3:c.2004C>T	NP_000255.2:p.Tyr668=	NC_000009.11:g.98231279G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1942C>G (p.His648Asp)	-1	-	Uncertain significance	149762881	RCV000167878;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231341	98231341	NM_000264.3:c.1942C>G	NP_000255.2:p.His648Asp	NC_000009.11:g.98231341G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1913G>A (p.Arg638His)	-1	-	Likely benign	145766839	RCV000206609;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231370	98231370	NM_000264.3:c.1913G>A	NP_000255.2:p.Arg638His	NC_000009.11:g.98231370C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1854C>T (p.Cys618=)	-1	-	Benign	62637628	RCV000204821;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98231429	98231429	NM_000264.3:c.1854C>T	NP_000255.2:p.Cys618=	NC_000009.11:g.98231429G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1809C>T (p.Arg603=)	-1	-	Benign	145690756	RCV000199059;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98232133	98232133	NM_000264.3:c.1809C>T	NP_000255.2:p.Arg603=	NC_000009.11:g.98232133G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1804C>A (p.Arg602=)	-1	-	Uncertain significance	863224650	RCV000199281;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98232138	98232138	NM_000264.3:c.1804C>A	NP_000255.2:p.Arg602=	NC_000009.11:g.98232138G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1734G>A (p.Ala578=)	-1	-	Likely benign	765440424	RCV000205444;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98232208	98232208	NM_000264.3:c.1734G>A	NP_000255.2:p.Ala578=	NC_000009.11:g.98232208C>T	-	C0004779 109400 Gorlin syndrome
GRCh37/hg19 9q22.32(97579146-99280739)x1	-1	more than 10	Pathogenic	-1	RCV000201243;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	97579146	99280739	-	-		-	C0004779 109400 Gorlin syndrome
GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1	5727	PTCH1	Pathogenic	-1	RCV000201261;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98207091	98210940	-	-		-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4328G>T (p.Gly1443Val)	5727	PTCH1	Uncertain significance	864622100	RCV000203681;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209210	98209210	NM_000264.3:c.4328G>T	NP_000255.2:p.Gly1443Val	NC_000009.11:g.98209210C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4325G>A (p.Arg1442Gln)	5727	PTCH1	Likely benign;Uncertain significance	56023271	RCV000123037; RCV000034579; RCV000121903;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374; MedGen:CN221809	9	98209213	98209213	NM_000264.3:c.4325G>A	NP_000255.2:p.Arg1442Gln	NC_000009.11:g.98209213C>T	-	C0004779 109400 Gorlin syndrome; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.4324C>T (p.Arg1442Trp)	5727	PTCH1	Benign;Uncertain significance	143464326	RCV000199648; RCV000034578; RCV000121899;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374; MedGen:CN221809	9	98209214	98209214	NM_000264.3:c.4324C>T	NP_000255.2:p.Arg1442Trp	NC_000009.11:g.98209214G>A	-	C0004779 109400 Gorlin syndrome; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.4321C>T (p.Pro1441Ser)	5727	PTCH1	Uncertain significance	746800536	RCV000198957;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209217	98209217	NM_000264.3:c.4321C>T	NP_000255.2:p.Pro1441Ser	NC_000009.11:g.98209217G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4313A>G (p.Glu1438Gly)	5727	PTCH1	Uncertain significance	150696398	RCV000205005;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209225	98209225	NM_000264.3:c.4313A>G	NP_000255.2:p.Glu1438Gly	NC_000009.11:g.98209225T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4258T>C (p.Cys1420Arg)	5727	PTCH1	Uncertain significance	864622068	RCV000206077;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209280	98209280	NM_000264.3:c.4258T>C	NP_000255.2:p.Cys1420Arg	NC_000009.11:g.98209280A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4252G>A (p.Val1418Ile)	5727	PTCH1	Likely benign	369882883	RCV000204868;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209286	98209286	NM_000264.3:c.4252G>A	NP_000255.2:p.Val1418Ile	NC_000009.11:g.98209286C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4251C>T (p.His1417=)	5727	PTCH1	Likely benign	371960721	RCV000119186;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209287	98209287	NM_000264.3:c.4251C>T	NP_000255.2:p.His1417=	NC_000009.11:g.98209287G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4240G>A (p.Val1414Met)	5727	PTCH1	Uncertain significance	149667902	RCV000197048;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209298	98209298	NM_000264.3:c.4240G>A	NP_000255.2:p.Val1414Met	NC_000009.11:g.98209298C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4239C>T (p.His1413=)	5727	PTCH1	Likely benign	375040845	RCV000123035;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209299	98209299	NM_000264.3:c.4239C>T	NP_000255.2:p.His1413=	NC_000009.11:g.98209299G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4230G>A (p.Glu1410=)	5727	PTCH1	Likely benign	774528758	RCV000199989;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209308	98209308	NM_000264.3:c.4230G>A	NP_000255.2:p.Glu1410=	NC_000009.11:g.98209308C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4219G>A (p.Gly1407Ser)	5727	PTCH1	Uncertain significance	56161606	RCV000206461; RCV000121901;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98209319	98209319	NM_000264.3:c.4219G>A	NP_000255.2:p.Gly1407Ser	NC_000009.11:g.98209319C>T	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.4218C>T (p.His1406=)	5727	PTCH1	Likely benign	372558350	RCV000206701;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209320	98209320	NM_000264.3:c.4218C>T	NP_000255.2:p.His1406=	NC_000009.11:g.98209320G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4199G>A (p.Gly1400Asp)	5727	PTCH1	Uncertain significance	786204094	RCV000168010;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209339	98209339	NM_000264.3:c.4199G>A	NP_000255.2:p.Gly1400Asp	NC_000009.11:g.98209339C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4171C>T (p.Arg1391Trp)	5727	PTCH1	Uncertain significance	45535032	RCV000168115; RCV000034577; RCV000210573;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C0950123; MedGen:CN221809	9	98209367	98209367	NM_000264.3:c.4171C>T	NP_000255.2:p.Arg1391Trp	NC_000009.11:g.98209367G>A	-	C0004779 109400 Gorlin syndrome; C0950123 Inborn genetic diseases; CN221809 not provided
NM_000264.3(PTCH1):c.4170G>A (p.Gly1390=)	5727	PTCH1	Likely benign	201118928	RCV000123034;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209368	98209368	NM_000264.3:c.4170G>A	NP_000255.2:p.Gly1390=	NC_000009.11:g.98209368C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4141G>A (p.Val1381Met)	5727	PTCH1	Uncertain significance	187104739	RCV000200618;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209397	98209397	NM_000264.3:c.4141G>A	NP_000255.2:p.Val1381Met	NC_000009.11:g.98209397C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4137C>T (p.Val1379=)	5727	PTCH1	Likely benign	149091602	RCV000204575;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209401	98209401	NM_000264.3:c.4137C>T	NP_000255.2:p.Val1379=	NC_000009.11:g.98209401G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4128C>T (p.Ser1376=)	5727	PTCH1	Benign	142148876	RCV000123033;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209410	98209410	NM_000264.3:c.4128C>T	NP_000255.2:p.Ser1376=	NC_000009.11:g.98209410G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4116G>T (p.Thr1372=)	5727	PTCH1	Likely benign	776937004	RCV000206307;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209422	98209422	NM_000264.3:c.4116G>T	NP_000255.2:p.Thr1372=	NC_000009.11:g.98209422C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4095C>T (p.Cys1365=)	5727	PTCH1	Likely benign	864622569	RCV000204747;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209443	98209443	NM_000264.3:c.4095C>T	NP_000255.2:p.Cys1365=	NC_000009.11:g.98209443G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4080C>T (p.Ser1360=)	5727	PTCH1	Benign	62637631	RCV000204296; RCV000078464;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98209458	98209458	NM_000264.3:c.4080C>T	NP_000255.2:p.Ser1360=	NC_000009.11:g.98209458G>A	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.4063A>G (p.Thr1355Ala)	5727	PTCH1	Uncertain significance	864622456	RCV000206264;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209475	98209475	NM_000264.3:c.4063A>G	NP_000255.2:p.Thr1355Ala	NC_000009.11:g.98209475T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4051A>G (p.Asn1351Asp)	5727	PTCH1	Uncertain significance	786204103	RCV000168033;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209487	98209487	NM_000264.3:c.4051A>G	NP_000255.2:p.Asn1351Asp	NC_000009.11:g.98209487T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4048C>T (p.Arg1350Trp)	5727	PTCH1	Benign	140417636	RCV000197821;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209490	98209490	NM_000264.3:c.4048C>T	NP_000255.2:p.Arg1350Trp	NC_000009.11:g.98209490G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4043A>G (p.Asn1348Ser)	5727	PTCH1	Uncertain significance	371943557	RCV000205121;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209495	98209495	NM_000264.3:c.4043A>G	NP_000255.2:p.Asn1348Ser	NC_000009.11:g.98209495T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4034G>A (p.Arg1345His)	5727	PTCH1	Uncertain significance	766315655	RCV000198754;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209504	98209504	NM_000264.3:c.4034G>A	NP_000255.2:p.Arg1345His	NC_000009.11:g.98209504C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4014_4034del21 (p.Trp1339_Arg1345del)	5727	PTCH1	Uncertain significance	774819810	RCV000204038;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209504	98209524	NM_000264.3:c.4014_4034del21	NP_000255.2:p.Trp1339_Arg1345del	NC_000009.11:g.98209504_98209524del21	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.4001G>A (p.Ser1334Asn)	5727	PTCH1	Uncertain significance	200620662	RCV000167997;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209537	98209537	NM_000264.3:c.4001G>A	NP_000255.2:p.Ser1334Asn	NC_000009.11:g.98209537C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3992C>T (p.Ser1331Phe)	5727	PTCH1	Uncertain significance	150373546	RCV000168137;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209546	98209546	NM_000264.3:c.3992C>T	NP_000255.2:p.Ser1331Phe	NC_000009.11:g.98209546G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3963C>T (p.Asp1321=)	5727	PTCH1	Benign	139071993	RCV000195627;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209575	98209575	NM_000264.3:c.3963C>T	NP_000255.2:p.Asp1321=	NC_000009.11:g.98209575G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3960A>G (p.Arg1320=)	5727	PTCH1	Uncertain significance	371761874	RCV000197006; RCV000176357;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN221809	9	98209578	98209578	NM_000264.3:c.3960A>G	NP_000255.2:p.Arg1320=	NC_000009.11:g.98209578T>C	-	C0004779 109400 Gorlin syndrome; CN221809 not provided
NM_000264.3(PTCH1):c.3954G>A (p.Pro1318=)	5727	PTCH1	Likely benign	45529536	RCV000197787;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209584	98209584	NM_000264.3:c.3954G>A	NP_000255.2:p.Pro1318=	NC_000009.11:g.98209584C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3953C>T (p.Pro1318Leu)	5727	PTCH1	Benign	536440590	RCV000201244;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209585	98209585	NM_000264.3:c.3953C>T	NP_000255.2:p.Pro1318Leu	NC_000009.11:g.98209585G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3947A>G (p.Tyr1316Cys)	5727	PTCH1	Likely benign;Likely pathogenic	147067171	RCV000119172; RCV000207364;	N	Human Phenotype Ontology:HP:0000659,MedGen:CN000620; MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN206486,ORPHA:91483	9	98209591	98209591	NM_000264.3:c.3947A>G	NP_000255.2:p.Tyr1316Cys	NC_000009.11:g.98209591T>C	-	C0004779 109400 Gorlin syndrome; CN000620 Peters anomaly; CN206486 Rieger anomaly
NM_000264.3(PTCH1):c.3919C>T (p.Pro1307Ser)	5727	PTCH1	Uncertain significance	574880967	RCV000119211;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209619	98209619	NM_000264.3:c.3919C>T	NP_000255.2:p.Pro1307Ser	NC_000009.11:g.98209619G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3917C>A (p.Pro1306His)	5727	PTCH1	Uncertain significance	864622483	RCV000206345;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209621	98209621	NM_000264.3:c.3917C>A	NP_000255.2:p.Pro1306His	NC_000009.11:g.98209621G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3915C>A (p.Asp1305Glu)	5727	PTCH1	Uncertain significance	786204201	RCV000168289;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209623	98209623	NM_000264.3:c.3915C>A	NP_000255.2:p.Asp1305Glu	NC_000009.11:g.98209623G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3913G>A (p.Asp1305Asn)	5727	PTCH1	Uncertain significance	368528885	RCV000200607;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209625	98209625	NM_000264.3:c.3913G>A	NP_000255.2:p.Asp1305Asn	NC_000009.11:g.98209625C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3907C>T (p.Arg1303Cys)	5727	PTCH1	Benign	56102979	RCV000119181;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209631	98209631	NM_000264.3:c.3907C>T	NP_000255.2:p.Arg1303Cys	NC_000009.11:g.98209631G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3890G>A (p.Arg1297Gln)	5727	PTCH1	Uncertain significance	386833412	RCV000205621; RCV000034574;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN221809	9	98209648	98209648	NM_000264.3:c.3890G>A	NP_000255.2:p.Arg1297Gln	NC_000009.11:g.98209648C>T	-	C0004779 109400 Gorlin syndrome; CN221809 not provided
NM_000264.3(PTCH1):c.3889C>T (p.Arg1297Trp)	5727	PTCH1	Likely pathogenic;Uncertain significance	372027952	RCV000119190; RCV000207358;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN206486,ORPHA:91483	9	98209649	98209649	NM_000264.3:c.3889C>T	NP_000255.2:p.Arg1297Trp	NC_000009.11:g.98209649G>A	-	C0004779 109400 Gorlin syndrome; CN206486 Rieger anomaly
NM_000264.3(PTCH1):c.3867C>T (p.Asp1289=)	5727	PTCH1	Likely benign	587780704	RCV000123032;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209671	98209671	NM_000264.3:c.3867C>T	NP_000255.2:p.Asp1289=	NC_000009.11:g.98209671G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3846G>A (p.Pro1282=)	5727	PTCH1	Likely benign	754412168	RCV000199344;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209692	98209692	NM_000264.3:c.3846G>A	NP_000255.2:p.Pro1282=	NC_000009.11:g.98209692C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3845C>T (p.Pro1282Leu)	5727	PTCH1	Benign	2227968	RCV000119163; RCV000034573; RCV000121896;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374; MedGen:CN221809	9	98209693	98209693	NM_000264.3:c.3845C>T	NP_000255.2:p.Pro1282Leu	NC_000009.11:g.98209693G>A	-	C0004779 109400 Gorlin syndrome; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.3826C>G (p.His1276Asp)	5727	PTCH1	Uncertain significance	786204190	RCV000168259;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209712	98209712	NM_000264.3:c.3826C>G	NP_000255.2:p.His1276Asp	NC_000009.11:g.98209712G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3816C>T (p.Pro1272=)	5727	PTCH1	Likely benign	369295226	RCV000197817;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209722	98209722	NM_000264.3:c.3816C>T	NP_000255.2:p.Pro1272=	NC_000009.11:g.98209722G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3805-9C>T	5727	PTCH1	Benign	2236404	RCV000123031;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98209742	98209742	NM_000264.3:c.3805-9C>T		NC_000009.11:g.98209742G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3793G>A (p.Ala1265Thr)	5727	PTCH1	Uncertain significance	759791227	RCV000168276;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211362	98211362	NM_000264.3:c.3793G>A	NP_000255.2:p.Ala1265Thr	NC_000009.11:g.98211362C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3766G>A (p.Val1256Met)	5727	PTCH1	Likely benign	150850039	RCV000167930; RCV000121895;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98211389	98211389	NM_000264.3:c.3766G>A	NP_000255.2:p.Val1256Met	NC_000009.11:g.98211389C>T	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.3752C>A (p.Ala1251Asp)	5727	PTCH1	Uncertain significance	747739936	RCV000206545;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211403	98211403	NM_000264.3:c.3752C>A	NP_000255.2:p.Ala1251Asp	NC_000009.11:g.98211403G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3739G>A (p.Ala1247Thr)	5727	PTCH1	Uncertain significance	369966295	RCV000203685;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211416	98211416	NM_000264.3:c.3739G>A	NP_000255.2:p.Ala1247Thr	NC_000009.11:g.98211416C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3716G>A (p.Arg1239Gln)	5727	PTCH1	Uncertain significance	758728491	RCV000196156;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211439	98211439	NM_000264.3:c.3716G>A	NP_000255.2:p.Arg1239Gln	NC_000009.11:g.98211439C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3692T>C (p.Val1231Ala)	5727	PTCH1	Uncertain significance	182045135	RCV000123030;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211463	98211463	NM_000264.3:c.3692T>C	NP_000255.2:p.Val1231Ala	NC_000009.11:g.98211463A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3642G>A (p.Thr1214=)	5727	PTCH1	Likely benign	143974523	RCV000206205;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211513	98211513	NM_000264.3:c.3642G>A	NP_000255.2:p.Thr1214=	NC_000009.11:g.98211513C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3634G>A (p.Gly1212Ser)	5727	PTCH1	Likely benign	559827048	RCV000204570;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211521	98211521	NM_000264.3:c.3634G>A	NP_000255.2:p.Gly1212Ser	NC_000009.11:g.98211521C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3633C>G (p.Pro1211=)	5727	PTCH1	Benign	56007343	RCV000198826;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211522	98211522	NM_000264.3:c.3633C>G	NP_000255.2:p.Pro1211=	NC_000009.11:g.98211522G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3631C>T (p.Pro1211Ser)	5727	PTCH1	Uncertain significance	139495263	RCV000203911;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211524	98211524	NM_000264.3:c.3631C>T	NP_000255.2:p.Pro1211Ser	NC_000009.11:g.98211524G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3629C>T (p.Pro1210Leu)	5727	PTCH1	Uncertain significance	781062564	RCV000199692;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211526	98211526	NM_000264.3:c.3629C>T	NP_000255.2:p.Pro1210Leu	NC_000009.11:g.98211526G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3624C>A (p.Ala1208=)	5727	PTCH1	Likely benign	149691476	RCV000123029;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211531	98211531	NM_000264.3:c.3624C>A	NP_000255.2:p.Ala1208=	NC_000009.11:g.98211531G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3617G>A (p.Arg1206His)	5727	PTCH1	Uncertain significance	560967532	RCV000123028; RCV000121894;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98211538	98211538	NM_000264.3:c.3617G>A	NP_000255.2:p.Arg1206His	NC_000009.11:g.98211538C>T	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.3606C>T (p.Pro1202=)	5727	PTCH1	Benign	138240178	RCV000205936;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211549	98211549	NM_000264.3:c.3606C>T	NP_000255.2:p.Pro1202=	NC_000009.11:g.98211549G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3575G>T (p.Arg1192Leu)	5727	PTCH1	Uncertain significance	762040036	RCV000204194;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211580	98211580	NM_000264.3:c.3575G>T	NP_000255.2:p.Arg1192Leu	NC_000009.11:g.98211580C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3573C>T (p.Asn1191=)	5727	PTCH1	Likely benign	773389781	RCV000204156;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211582	98211582	NM_000264.3:c.3573C>T	NP_000255.2:p.Asn1191=	NC_000009.11:g.98211582G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3567C>T (p.Gly1189=)	5727	PTCH1	Benign	62637630	RCV000204338;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211588	98211588	NM_000264.3:c.3567C>T	NP_000255.2:p.Gly1189=	NC_000009.11:g.98211588G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3564C>T (p.Asn1188=)	5727	PTCH1	Likely benign	864622621	RCV000204815;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98211591	98211591	NM_000264.3:c.3564C>T	NP_000255.2:p.Asn1188=	NC_000009.11:g.98211591G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3549+10G>C	5727	PTCH1	Likely benign	587780703	RCV000123027;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98212113	98212113	NM_000264.3:c.3549+10G>C		NC_000009.11:g.98212113C>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3531C>T (p.Phe1177=)	5727	PTCH1	Likely benign	587780702	RCV000123026;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98212141	98212141	NM_000264.3:c.3531C>T	NP_000255.2:p.Phe1177=	NC_000009.11:g.98212141G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3527C>G (p.Ser1176Cys)	5727	PTCH1	Uncertain significance	864622160	RCV000206519;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98212145	98212145	NM_000264.3:c.3527C>G	NP_000255.2:p.Ser1176Cys	NC_000009.11:g.98212145G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3488G>T (p.Gly1163Val)	5727	PTCH1	Uncertain significance	864622120	RCV000206594;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98212184	98212184	NM_000264.3:c.3488G>T	NP_000255.2:p.Gly1163Val	NC_000009.11:g.98212184C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3487G>A (p.Gly1163Ser)	5727	PTCH1	Likely benign;Uncertain significance	113663584	RCV000123025; RCV000034572; RCV000121892;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374; MedGen:CN221809	9	98212185	98212185	NM_000264.3:c.3487G>A	NP_000255.2:p.Gly1163Ser	NC_000009.11:g.98212185C>T	-	C0004779 109400 Gorlin syndrome; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.3450-2A>G	5727	PTCH1	Likely pathogenic	863224443	RCV000196825;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98212224	98212224	NM_000264.3:c.3450-2A>G		NC_000009.11:g.98212224T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3449+7A>T	5727	PTCH1	Likely benign	374907800	RCV000195621;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215753	98215753	NM_000264.3:c.3449+7A>T		NC_000009.11:g.98215753T>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3449+1G>A	5727	PTCH1	Likely pathogenic	863224442	RCV000195968;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215759	98215759	NM_000264.3:c.3449+1G>A		NC_000009.11:g.98215759C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3442A>G (p.Ile1148Val)	5727	PTCH1	Uncertain significance	369265532	RCV000206748;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215767	98215767	NM_000264.3:c.3442A>G	NP_000255.2:p.Ile1148Val	NC_000009.11:g.98215767T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3435C>T (p.Phe1145=)	5727	PTCH1	Likely benign	200435277	RCV000123024;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215774	98215774	NM_000264.3:c.3435C>T	NP_000255.2:p.Phe1145=	NC_000009.11:g.98215774G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3429T>C (p.Ser1143=)	5727	PTCH1	Likely benign	778900289	RCV000198862;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215780	98215780	NM_000264.3:c.3429T>C	NP_000255.2:p.Ser1143=	NC_000009.11:g.98215780A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3423G>A (p.Ala1141=)	5727	PTCH1	Uncertain significance	745948150	RCV000198505;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215786	98215786	NM_000264.3:c.3423G>A	NP_000255.2:p.Ala1141=	NC_000009.11:g.98215786C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3422C>T (p.Ala1141Val)	5727	PTCH1	Uncertain significance	376844749	RCV000148762;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215787	98215787	NM_000264.3:c.3422C>T	NP_000255.2:p.Ala1141Val	NC_000009.11:g.98215787G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3388G>A (p.Ala1130Thr)	5727	PTCH1	Uncertain significance	766037357	RCV000196599;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215821	98215821	NM_000264.3:c.3388G>A	NP_000255.2:p.Ala1130Thr	NC_000009.11:g.98215821C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3387C>T (p.Gly1129=)	5727	PTCH1	Benign;Likely benign	28446339	RCV000123023; RCV000192519;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98215822	98215822	NM_000264.3:c.3387C>T	NP_000255.2:p.Gly1129=	NC_000009.11:g.98215822G>A	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.3376G>A (p.Val1126Ile)	5727	PTCH1	Uncertain significance	147025073	RCV000167898; RCV000121891;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374	9	98215833	98215833	NM_000264.3:c.3376G>A	NP_000255.2:p.Val1126Ile	NC_000009.11:g.98215833C>T	-	C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.3372A>T (p.Ala1124=)	5727	PTCH1	Likely benign	756638660	RCV000205391;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215837	98215837	NM_000264.3:c.3372A>T	NP_000255.2:p.Ala1124=	NC_000009.11:g.98215837T>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3347T>A (p.Val1116Glu)	5727	PTCH1	Uncertain significance	863224653	RCV000199513;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215862	98215862	NM_000264.3:c.3347T>A	NP_000255.2:p.Val1116Glu	NC_000009.11:g.98215862A>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3338G>A (p.Arg1113His)	5727	PTCH1	Uncertain significance	143781513	RCV000204267;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215871	98215871	NM_000264.3:c.3338G>A	NP_000255.2:p.Arg1113His	NC_000009.11:g.98215871C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3317C>T (p.Thr1106Met)	5727	PTCH1	Uncertain significance	769691754	RCV000204886;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98215892	98215892	NM_000264.3:c.3317C>T	NP_000255.2:p.Thr1106Met	NC_000009.11:g.98215892G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3306+5G>A	5727	PTCH1	Uncertain significance	587780701	RCV000123022;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98218553	98218553	NM_000264.3:c.3306+5G>A		NC_000009.11:g.98218553C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3241G>A (p.Val1081Met)	5727	PTCH1	Likely pathogenic;Uncertain significance	587778629	RCV000123021; RCV000121889; RCV000207354;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN169374; MedGen:CN235161	9	98218623	98218623	NM_000264.3:c.3241G>A	NP_000255.2:p.Val1081Met	NC_000009.11:g.98218623C>T	-	CN235161 Anophthalmia - microphthalmia; C0004779 109400 Gorlin syndrome; CN169374 not specified
NM_000264.3(PTCH1):c.3240C>T (p.Ala1080=)	5727	PTCH1	Likely benign	200347952	RCV000123020;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98218624	98218624	NM_000264.3:c.3240C>T	NP_000255.2:p.Ala1080=	NC_000009.11:g.98218624G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3169-5T>C	5727	PTCH1	Benign	367654039	RCV000203997;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98218700	98218700	NM_000264.3:c.3169-5T>C		NC_000009.11:g.98218700A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3168+2T>C	5727	PTCH1	Pathogenic	786204056	RCV000167915;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220293	98220293	NM_000264.3:c.3168+2T>C		NC_000009.11:g.98220293A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met)	5727	PTCH1	Likely benign;Pathogenic;Uncertain significance	138911275	RCV000119145; RCV000008707; RCV000148761; RCV000034570; RCV000121888;	N	Gene:3244,MedGen:C0079541, Orphanet:ORPHA2162,SNOMED CT:30915001; MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C1835820,OMIM:610828; MedGen:CN169374; MedGen:CN221809	9	98220308	98220308	NM_000264.3:c.3155C>T	NP_000255.2:p.Thr1052Met	NC_000009.11:g.98220308G>A	OMIM Allelic Variant:601309.0014	C0004779 109400 Gorlin syndrome; C1835820 610828 Holoprosencephaly 7; C0079541 Holoprosencephaly sequence; CN221809 not provided; CN169374 not specified
NM_000264.3(PTCH1):c.3150C>T (p.Pro1050=)	5727	PTCH1	Benign	149398794	RCV000205907;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220313	98220313	NM_000264.3:c.3150C>T	NP_000255.2:p.Pro1050=	NC_000009.11:g.98220313G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3124G>A (p.Val1042Met)	5727	PTCH1	Uncertain significance	772406487	RCV000204587;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220339	98220339	NM_000264.3:c.3124G>A	NP_000255.2:p.Val1042Met	NC_000009.11:g.98220339C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3100G>A (p.Val1034Met)	5727	PTCH1	Uncertain significance	760902564	RCV000205641;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220363	98220363	NM_000264.3:c.3100G>A	NP_000255.2:p.Val1034Met	NC_000009.11:g.98220363C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3074G>A (p.Arg1025His)	5727	PTCH1	Uncertain significance	370150142	RCV000205211;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220389	98220389	NM_000264.3:c.3074G>A	NP_000255.2:p.Arg1025His	NC_000009.11:g.98220389C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3018G>A (p.Leu1006=)	5727	PTCH1	Likely benign	863224350	RCV000200588;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220445	98220445	NM_000264.3:c.3018G>A	NP_000255.2:p.Leu1006=	NC_000009.11:g.98220445C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.3010C>G (p.Leu1004Val)	5727	PTCH1	Uncertain significance	864622620	RCV000206746;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220453	98220453	NM_000264.3:c.3010C>G	NP_000255.2:p.Leu1004Val	NC_000009.11:g.98220453G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2937C>T (p.Asn979=)	5727	PTCH1	Benign	58629309	RCV000206161;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220526	98220526	NM_000264.3:c.2937C>T	NP_000255.2:p.Asn979=	NC_000009.11:g.98220526G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2933T>C (p.Leu978Pro)	5727	PTCH1	Uncertain significance	863224652	RCV000197768;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220530	98220530	NM_000264.3:c.2933T>C	NP_000255.2:p.Leu978Pro	NC_000009.11:g.98220530A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2929T>C (p.Tyr977His)	5727	PTCH1	Uncertain significance	587780700	RCV000123019;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220534	98220534	NM_000264.3:c.2929T>C	NP_000255.2:p.Tyr977His	NC_000009.11:g.98220534A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2913T>C (p.Tyr971=)	5727	PTCH1	Benign	2229062	RCV000206383;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220550	98220550	NM_000264.3:c.2913T>C	NP_000255.2:p.Tyr971=	NC_000009.11:g.98220550A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2888-8C>T	5727	PTCH1	Benign	567994836	RCV000197985;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98220583	98220583	NM_000264.3:c.2888-8C>T		NC_000009.11:g.98220583G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2887+10G>A	5727	PTCH1	Likely benign	202081420	RCV000123018;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221872	98221872	NM_000264.3:c.2887+10G>A		NC_000009.11:g.98221872C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2866A>G (p.Met956Val)	5727	PTCH1	Uncertain significance	587780699	RCV000123017;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221903	98221903	NM_000264.3:c.2866A>G	NP_000255.2:p.Met956Val	NC_000009.11:g.98221903T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2859C>T (p.Ala953=)	5727	PTCH1	Likely benign	142131559	RCV000123016;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221910	98221910	NM_000264.3:c.2859C>T	NP_000255.2:p.Ala953=	NC_000009.11:g.98221910G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2842_2849delTGGGTCCA (p.Trp948Argfs)	5727	PTCH1	Pathogenic	863224485	RCV000196749;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221920	98221927	NM_000264.3:c.2842_2849delTGGGTCCA	NP_000255.2:p.Trp948Argfs	NC_000009.11:g.98221920_98221927delTGGACCCA	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2834G>A (p.Arg945Gln)	5727	PTCH1	Uncertain significance	201118857	RCV000195909; RCV000034568;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN221809	9	98221935	98221935	NM_000264.3:c.2834G>A	NP_000255.2:p.Arg945Gln	NC_000009.11:g.98221935C>T	-	C0004779 109400 Gorlin syndrome; CN221809 not provided
NM_000264.3(PTCH1):c.2814G>A (p.Gln938=)	5727	PTCH1	Likely benign	587780534	RCV000119127;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221955	98221955	NM_000264.3:c.2814G>A	NP_000255.2:p.Gln938=	NC_000009.11:g.98221955C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2799G>A (p.Ala933=)	5727	PTCH1	Benign	111446700	RCV000195818;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221970	98221970	NM_000264.3:c.2799G>A	NP_000255.2:p.Ala933=	NC_000009.11:g.98221970C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2799delG (p.Tyr934Metfs)	5727	PTCH1	Pathogenic	863224484	RCV000199981;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221970	98221970	NM_000264.3:c.2799delG	NP_000255.2:p.Tyr934Metfs	NC_000009.11:g.98221970delC	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2787C>T (p.Asn929=)	5727	PTCH1	Benign	145196322	RCV000123015;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221982	98221982	NM_000264.3:c.2787C>T	NP_000255.2:p.Asn929=	NC_000009.11:g.98221982G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2782A>G (p.Ser928Gly)	5727	PTCH1	Uncertain significance	786204224	RCV000168358;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98221987	98221987	NM_000264.3:c.2782A>G	NP_000255.2:p.Ser928Gly	NC_000009.11:g.98221987T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2713C>A (p.Gln905Lys)	5727	PTCH1	Uncertain significance	864622088	RCV000205429;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98222056	98222056	NM_000264.3:c.2713C>A	NP_000255.2:p.Gln905Lys	NC_000009.11:g.98222056G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2704-4G>A	5727	PTCH1	Likely benign	864622248	RCV000206169;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98222069	98222069	NM_000264.3:c.2704-4G>A		NC_000009.11:g.98222069C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2704-6T>C	5727	PTCH1	Likely benign	182321370	RCV000199047;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98222071	98222071	NM_000264.3:c.2704-6T>C		NC_000009.11:g.98222071A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2692G>A (p.Asp898Asn)	5727	PTCH1	Likely benign	531947455	RCV000197362;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224149	98224149	NM_000264.3:c.2692G>A	NP_000255.2:p.Asp898Asn	NC_000009.11:g.98224149C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2680G>A (p.Asp894Asn)	5727	PTCH1	Uncertain significance	56173896	RCV000161931;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224161	98224161	NM_000264.3:c.2680G>A	NP_000255.2:p.Asp894Asn	NC_000009.11:g.98224161C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2671G>A (p.Gly891Ser)	5727	PTCH1	Uncertain significance	570091335	RCV000205792;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224170	98224170	NM_000264.3:c.2671G>A	NP_000255.2:p.Gly891Ser	NC_000009.11:g.98224170C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2635G>A (p.Asp879Asn)	5727	PTCH1	Uncertain significance	750373573	RCV000200138;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224206	98224206	NM_000264.3:c.2635G>A	NP_000255.2:p.Asp879Asn	NC_000009.11:g.98224206C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2634C>T (p.Asp878=)	5727	PTCH1	Likely benign	771732591	RCV000204047;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224207	98224207	NM_000264.3:c.2634C>T	NP_000255.2:p.Asp878=	NC_000009.11:g.98224207G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2610A>C (p.Pro870=)	5727	PTCH1	Likely benign	762087413	RCV000204916;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224231	98224231	NM_000264.3:c.2610A>C	NP_000255.2:p.Pro870=	NC_000009.11:g.98224231T>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2597G>A (p.Gly866Glu)	5727	PTCH1	Uncertain significance	863224651	RCV000197593;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224244	98224244	NM_000264.3:c.2597G>A	NP_000255.2:p.Gly866Glu	NC_000009.11:g.98224244C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.2561-10C>T	5727	PTCH1	Likely benign	763935951	RCV000200626;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98224290	98224290	NM_000264.3:c.2561-10C>T		NC_000009.11:g.98224290G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1728+8T>G	5727	PTCH1	Likely benign	864622243	RCV000203721;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238308	98238308	NM_000264.3:c.1728+8T>G		NC_000009.11:g.98238308A>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1716G>A (p.Ala572=)	5727	PTCH1	Likely benign	55844310	RCV000203964;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238328	98238328	NM_000264.3:c.1716G>A	NP_000255.2:p.Ala572=	NC_000009.11:g.98238328C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1664A>G (p.Asn555Ser)	5727	PTCH1	Uncertain significance	181192122	RCV000204428;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238380	98238380	NM_000264.3:c.1664A>G	NP_000255.2:p.Asn555Ser	NC_000009.11:g.98238380T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1661G>A (p.Ser554Asn)	5727	PTCH1	Uncertain significance	148367880	RCV000197370;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238383	98238383	NM_000264.3:c.1661G>A	NP_000255.2:p.Ser554Asn	NC_000009.11:g.98238383C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1652C>T (p.Thr551Met)	5727	PTCH1	Uncertain significance	863224649	RCV000195516;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238392	98238392	NM_000264.3:c.1652C>T	NP_000255.2:p.Thr551Met	NC_000009.11:g.98238392G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1641C>T (p.Ser547=)	5727	PTCH1	Benign	2066830	RCV000119130;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238403	98238403	NM_000264.3:c.1641C>T	NP_000255.2:p.Ser547=	NC_000009.11:g.98238403G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1629C>G (p.Arg543=)	5727	PTCH1	Likely benign	557468315	RCV000205709;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98238415	98238415	NM_000264.3:c.1629C>G	NP_000255.2:p.Arg543=	NC_000009.11:g.98238415G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs)	5727	PTCH1	Pathogenic	863225055	RCV000201254;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98239042	98239052	NM_000264.3:c.1591_1601delATCCCTTTTGA	NP_000255.2:p.Ile531Glyfs	NC_000009.11:g.98239042_98239052delTCAAAAGGGAT	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1593C>T (p.Ile531=)	5727	PTCH1	Likely benign	587780694	RCV000123002;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98239050	98239050	NM_000264.3:c.1593C>T	NP_000255.2:p.Ile531=	NC_000009.11:g.98239050G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1503+1G>C	5727	PTCH1	Likely pathogenic	864622293	RCV000204242;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98239828	98239828	NM_000264.3:c.1503+1G>C		NC_000009.11:g.98239828C>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1502A>G (p.Gln501Arg)	5727	PTCH1	Pathogenic	863225054	RCV000201252;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98239830	98239830	NM_000264.3:c.1502A>G	NP_000255.2:p.Gln501Arg	NC_000009.11:g.98239830T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1348-4G>A	5727	PTCH1	Likely benign	772826555	RCV000205255;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98239988	98239988	NM_000264.3:c.1348-4G>A		NC_000009.11:g.98239988C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1347+5C>T	5727	PTCH1	Uncertain significance	567257548	RCV000200229;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240332	98240332	NM_000264.3:c.1347+5C>T		NC_000009.11:g.98240332G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1332C>T (p.Ser444=)	5727	PTCH1	Likely benign	373930674	RCV000195972;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240352	98240352	NM_000264.3:c.1332C>T	NP_000255.2:p.Ser444=	NC_000009.11:g.98240352G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1329delC (p.Ser444Alafs)	5727	PTCH1	Pathogenic	864622374	RCV000206300;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240355	98240355	NM_000264.3:c.1329delC	NP_000255.2:p.Ser444Alafs	NC_000009.11:g.98240355delG	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1308C>T (p.Asp436=)	5727	PTCH1	Likely benign	148471237	RCV000122999;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240376	98240376	NM_000264.3:c.1308C>T	NP_000255.2:p.Asp436=	NC_000009.11:g.98240376G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1306G>A (p.Asp436Asn)	5727	PTCH1	Benign;Likely benign;Uncertain significance	142274954	RCV000122998; RCV000201284; RCV000121906; RCV000207385;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C2931876,OMIM:142623; MedGen:CN169374; MedGen:CN235161	9	98240378	98240378	NM_000264.3:c.1306G>A	NP_000255.2:p.Asp436Asn	NC_000009.11:g.98240378C>T	-	CN235161 Anophthalmia - microphthalmia; C0004779 109400 Gorlin syndrome; C2931876 142623 Hirschsprung disease 1; CN169374 not specified
NM_000264.3(PTCH1):c.1274C>T (p.Thr425Met)	5727	PTCH1	Uncertain significance	768956985	RCV000198359;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240410	98240410	NM_000264.3:c.1274C>T	NP_000255.2:p.Thr425Met	NC_000009.11:g.98240410G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1248T>C (p.Thr416=)	5727	PTCH1	Likely benign	863224345	RCV000199896;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240436	98240436	NM_000264.3:c.1248T>C	NP_000255.2:p.Thr416=	NC_000009.11:g.98240436A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1234G>T (p.Ala412Ser)	5727	PTCH1	Uncertain significance	370354759	RCV000148764;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240450	98240450	NM_000264.3:c.1234G>T	NP_000255.2:p.Ala412Ser	NC_000009.11:g.98240450C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1216-6C>A	5727	PTCH1	Likely benign	186008764	RCV000197142;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240474	98240474	NM_000264.3:c.1216-6C>A		NC_000009.11:g.98240474G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1216-10G>A	5727	PTCH1	Likely benign	587780691	RCV000122996;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98240478	98240478	NM_000264.3:c.1216-10G>A		NC_000009.11:g.98240478C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1186C>G (p.Leu396Val)	5727	PTCH1	Uncertain significance	371424684	RCV000122995;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241311	98241311	NM_000264.3:c.1186C>G	NP_000255.2:p.Leu396Val	NC_000009.11:g.98241311G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1137C>T (p.Tyr379=)	5727	PTCH1	Benign	587780690	RCV000122994;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241360	98241360	NM_000264.3:c.1137C>T	NP_000255.2:p.Tyr379=	NC_000009.11:g.98241360G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1128C>G (p.Phe376Leu)	5727	PTCH1	Uncertain significance	863224648	RCV000198141;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241369	98241369	NM_000264.3:c.1128C>G	NP_000255.2:p.Phe376Leu	NC_000009.11:g.98241369G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1119C>T (p.Tyr373=)	5727	PTCH1	Benign	2066831	RCV000205090;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241378	98241378	NM_000264.3:c.1119C>T	NP_000255.2:p.Tyr373=	NC_000009.11:g.98241378G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1093C>T (p.Gln365Ter)	5727	PTCH1	not provided	267606984	RCV000144436;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241404	98241404	NM_000264.3:c.1093C>T	NP_000255.2:p.Gln365Ter	NC_000009.11:g.98241404G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1081C>T (p.Gln361Ter)	5727	PTCH1	Pathogenic	199476090	RCV000008696;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241416	98241416	NM_000264.3:c.1081C>T	NP_000255.2:p.Gln361Ter	NC_000009.11:g.98241416G>A	OMIM Allelic Variant:601309.0003	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1074T>C (p.His358=)	5727	PTCH1	Benign	2066832	RCV000203786;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241423	98241423	NM_000264.3:c.1074T>C	NP_000255.2:p.His358=	NC_000009.11:g.98241423A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1068-9G>A	5727	PTCH1	Likely benign	863224344	RCV000197694;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98241438	98241438	NM_000264.3:c.1068-9G>A		NC_000009.11:g.98241438C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.1020G>A (p.Glu340=)	5727	PTCH1	Likely benign	748171767	RCV000195498;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98242298	98242298	NM_000264.3:c.1020G>A	NP_000255.2:p.Glu340=	NC_000009.11:g.98242298C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.945+1G>A	5727	PTCH1	Likely pathogenic	863224444	RCV000199083;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98242671	98242671	NM_000264.3:c.945+1G>A		NC_000009.11:g.98242671C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.884C>T (p.Pro295Leu)	5727	PTCH1	Uncertain significance	370755364	RCV000123044;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98242733	98242733	NM_000264.3:c.884C>T	NP_000255.2:p.Pro295Leu	NC_000009.11:g.98242733G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.882C>T (p.Arg294=)	5727	PTCH1	Likely benign	145893445	RCV000197576;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98242735	98242735	NM_000264.3:c.882C>T	NP_000255.2:p.Arg294=	NC_000009.11:g.98242735G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.869G>A (p.Gly290Asp)	5727	PTCH1	Uncertain significance	864622130	RCV000204718;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98242748	98242748	NM_000264.3:c.869G>A	NP_000255.2:p.Gly290Asp	NC_000009.11:g.98242748C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.801G>A (p.Glu267=)	5727	PTCH1	Likely benign	374155092	RCV000123043;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98242816	98242816	NM_000264.3:c.801G>A	NP_000255.2:p.Glu267=	NC_000009.11:g.98242816C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.735A>G (p.Thr245=)	5727	PTCH1	Benign	1805154	RCV000119176;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98244242	98244242	NM_000264.3:c.735A>G	NP_000255.2:p.Thr245=	NC_000009.11:g.98244242T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.727T>C (p.Ser243Pro)	5727	PTCH1	Uncertain significance	372422922	RCV000205559;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98244250	98244250	NM_000264.3:c.727T>C	NP_000255.2:p.Ser243Pro	NC_000009.11:g.98244250A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.666T>A (p.Tyr222Ter)	5727	PTCH1	Pathogenic	863224487	RCV000199837;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98244311	98244311	NM_000264.3:c.666T>A	NP_000255.2:p.Tyr222Ter	NC_000009.11:g.98244311A>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.646A>G (p.Met216Val)	5727	PTCH1	Uncertain significance	587780709	RCV000123042;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98244424	98244424	NM_000264.3:c.646A>G	NP_000255.2:p.Met216Val	NC_000009.11:g.98244424T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.624G>A (p.Glu208=)	5727	PTCH1	Likely benign	777231059	RCV000205069;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98244446	98244446	NM_000264.3:c.624G>A	NP_000255.2:p.Glu208=	NC_000009.11:g.98244446C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.612C>G (p.Tyr204Ter)	5727	PTCH1	Pathogenic	863224486	RCV000197615;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98244458	98244458	NM_000264.3:c.612C>G	NP_000255.2:p.Tyr204Ter	NC_000009.11:g.98244458G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.584+10G>A	5727	PTCH1	Likely benign	765713791	RCV000196729;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98247957	98247957	NM_000264.3:c.584+10G>A		NC_000009.11:g.98247957C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.567T>C (p.His189=)	5727	PTCH1	Benign	150759973	RCV000123040;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98247984	98247984	NM_000264.3:c.567T>C	NP_000255.2:p.His189=	NC_000009.11:g.98247984A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.552G>T (p.Gln184His)	5727	PTCH1	Uncertain significance	369893129	RCV000197270;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98247999	98247999	NM_000264.3:c.552G>T	NP_000255.2:p.Gln184His	NC_000009.11:g.98247999C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.531_533delACA (p.Gln177del)	5727	PTCH1	Uncertain significance	864622108	RCV000206719;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248018	98248020	NM_000264.3:c.531_533delACA	NP_000255.2:p.Gln177del	NC_000009.11:g.98248018_98248020delTGT	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.521C>T (p.Ala174Val)	5727	PTCH1	Uncertain significance	772368023	RCV000210888;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248030	98248030	NM_000264.3:c.521C>T	NP_000255.2:p.Ala174Val	NC_000009.11:g.98248030G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.500C>A (p.Ala167Asp)	5727	PTCH1	Uncertain significance	587780707	RCV000123039;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248051	98248051	NM_000264.3:c.500C>A	NP_000255.2:p.Ala167Asp	NC_000009.11:g.98248051G>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.468A>G (p.Gln156=)	5727	PTCH1	Uncertain significance	200729445	RCV000196052;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248083	98248083	NM_000264.3:c.468A>G	NP_000255.2:p.Gln156=	NC_000009.11:g.98248083T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.430C>T (p.Arg144Cys)	5727	PTCH1	Uncertain significance	587780705	RCV000123036;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248121	98248121	NM_000264.3:c.430C>T	NP_000255.2:p.Arg144Cys	NC_000009.11:g.98248121G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.420A>G (p.Leu140=)	5727	PTCH1	Likely benign	372559495	RCV000204638;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248131	98248131	NM_000264.3:c.420A>G	NP_000255.2:p.Leu140=	NC_000009.11:g.98248131T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.404G>A (p.Arg135Gln)	5727	PTCH1	Uncertain significance	375628555	RCV000204813;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248147	98248147	NM_000264.3:c.404G>A	NP_000255.2:p.Arg135Gln	NC_000009.11:g.98248147C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.395-1G>A	5727	PTCH1	Likely pathogenic	368869806	RCV000149897;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248157	98248157	NM_000264.3:c.395-1G>A		NC_000009.11:g.98248157C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.395-9A>G	5727	PTCH1	Likely benign	781395697	RCV000195414;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98248165	98248165	NM_000264.3:c.395-9A>G		NC_000009.11:g.98248165T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.388G>A (p.Val130Met)	5727	PTCH1	Uncertain significance	746339472	RCV000198695;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268695	98268695	NM_000264.3:c.388G>A	NP_000255.2:p.Val130Met	NC_000009.11:g.98268695C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.343G>T (p.Gly115Ter)	5727	PTCH1	Pathogenic	794727242	RCV000175570;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268740	98268740	NM_000264.3:c.343G>T	NP_000255.2:p.Gly115Ter	NC_000009.11:g.98268740C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.333C>T (p.Ala111=)	5727	PTCH1	Likely benign	863224351	RCV000197336;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268750	98268750	NM_000264.3:c.333C>T	NP_000255.2:p.Ala111=	NC_000009.11:g.98268750G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.324A>G (p.Ile108Met)	5727	PTCH1	Uncertain significance	144182921	RCV000167969;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268759	98268759	NM_000264.3:c.324A>G	NP_000255.2:p.Ile108Met	NC_000009.11:g.98268759T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.318C>T (p.Leu106=)	5727	PTCH1	Benign	1805153	RCV000119167; RCV000127644;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:CN221809	9	98268765	98268765	NM_000264.3:c.318C>T	NP_000255.2:p.Leu106=	NC_000009.11:g.98268765G>A	-	C0004779 109400 Gorlin syndrome; CN221809 not provided
NM_000264.3(PTCH1):c.270_304del35 (p.Tyr93Glyfs)	5727	PTCH1	Pathogenic	864622583	RCV000205973;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268779	98268813	NM_000264.3:c.270_304del35	NP_000255.2:p.Tyr93Glyfs	NC_000009.11:g.98268779_98268813del35	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.293G>A (p.Cys98Tyr)	5727	PTCH1	Uncertain significance	746435405	RCV000206189;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268790	98268790	NM_000264.3:c.293G>A	NP_000255.2:p.Cys98Tyr	NC_000009.11:g.98268790C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.258_259delCT (p.Leu87Ilefs)	5727	PTCH1	Pathogenic	864622212	RCV000205683;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268824	98268825	NM_000264.3:c.258_259delCT	NP_000255.2:p.Leu87Ilefs	NC_000009.11:g.98268824_98268825delAG	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.252G>A (p.Gln84=)	5727	PTCH1	Likely benign	587780698	RCV000123012;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268831	98268831	NM_000264.3:c.252G>A	NP_000255.2:p.Gln84=	NC_000009.11:g.98268831C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.202-6C>T	5727	PTCH1	Likely benign	779129066	RCV000206513;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98268887	98268887	NM_000264.3:c.202-6C>T		NC_000009.11:g.98268887G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.201+9C>T	5727	PTCH1	Likely benign	751905115	RCV000197486;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270434	98270434	NM_000264.3:c.201+9C>T		NC_000009.11:g.98270434G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.158C>T (p.Pro53Leu)	5727	PTCH1	Uncertain significance	372546614	RCV000199229;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270486	98270486	NM_000264.3:c.158C>T	NP_000255.2:p.Pro53Leu	NC_000009.11:g.98270486G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.146A>G (p.Tyr49Cys)	5727	PTCH1	Uncertain significance	774156512	RCV000197356;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270498	98270498	NM_000264.3:c.146A>G	NP_000255.2:p.Tyr49Cys	NC_000009.11:g.98270498T>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.141G>C (p.Arg47=)	5727	PTCH1	Likely benign	587780693	RCV000123001;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270503	98270503	NM_000264.3:c.141G>C	NP_000255.2:p.Arg47=	NC_000009.11:g.98270503C>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.134C>G (p.Pro45Arg)	5727	PTCH1	Uncertain significance	587780692	RCV000123000;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270510	98270510	NM_000264.3:c.134C>G	NP_000255.2:p.Pro45Arg	NC_000009.11:g.98270510G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.123T>C (p.Arg41=)	5727	PTCH1	Likely benign	368070922	RCV000122997;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270521	98270521	NM_000264.3:c.123T>C	NP_000255.2:p.Arg41=	NC_000009.11:g.98270521A>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.113G>T (p.Gly38Val)	5727	PTCH1	Uncertain significance	143494325	RCV000168252;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270531	98270531	NM_000264.3:c.113G>T	NP_000255.2:p.Gly38Val	NC_000009.11:g.98270531C>A,NC_000009.11:g.98270531C>G,NC_000009.11:g.98270531C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.113G>A (p.Gly38Glu)	5727	PTCH1	Uncertain significance	143494325	RCV000200738;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270531	98270531	NM_000264.3:c.113G>A	NP_000255.2:p.Gly38Glu	NC_000009.11:g.98270531C>A,NC_000009.11:g.98270531C>G,NC_000009.11:g.98270531C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.113G>C (p.Gly38Ala)	5727	PTCH1	Uncertain significance	143494325	RCV000206274;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270531	98270531	NM_000264.3:c.113G>C	NP_000255.2:p.Gly38Ala		-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.67G>A (p.Ala23Thr)	5727	PTCH1	Uncertain significance	863224654	RCV000199131;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270577	98270577	NM_000264.3:c.67G>A	NP_000255.2:p.Ala23Thr	NC_000009.11:g.98270577C>T	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.56G>T (p.Gly19Val)	5727	PTCH1	Uncertain significance	587780708	RCV000123041;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270588	98270588	NM_000264.3:c.56G>T	NP_000255.2:p.Gly19Val	NC_000009.11:g.98270588C>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.43_51delGGCGGCGGC (p.Gly15_Gly17del)	5727	PTCH1	Uncertain significance	780826614	RCV000168269;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270593	98270601	NM_000264.3:c.43_51delGGCGGCGGC	NP_000255.2:p.Gly15_Gly17del	NC_000009.11:g.98270593_98270601delGCCGCCGCC	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.48C>T (p.Gly16=)	5727	PTCH1	Likely benign	587780706	RCV000123038;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270596	98270596	NM_000264.3:c.48C>T	NP_000255.2:p.Gly16=	NC_000009.11:g.98270596G>A	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.37C>G (p.Arg13Gly)	5727	PTCH1	Uncertain significance	779791579	RCV000168136;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270607	98270607	NM_000264.3:c.37C>G	NP_000255.2:p.Arg13Gly	NC_000009.11:g.98270607G>C	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.14G>C (p.Gly5Ala)	5727	PTCH1	Uncertain significance	864622762	RCV000203690;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270630	98270630	NM_000264.3:c.14G>C	NP_000255.2:p.Gly5Ala	NC_000009.11:g.98270630C>G	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.-6_-4dupGGC	5727	PTCH1	Benign	587780530	RCV000119104;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270647	98270649	NM_000264.3:c.-6_-4dupGGC		NC_000009.11:g.98270647_98270649dupGCC	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.-6_-4delGGC	5727	PTCH1	Benign	863224276	RCV000196808;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270647	98270649	NM_000264.3:c.-6_-4delGGC		NC_000009.11:g.98270647_98270649delGCC	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.-12_-4delGGCGGCGGC	5727	PTCH1	Benign	863224275	RCV000200754;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270647	98270655	NM_000264.3:c.-12_-4delGGCGGCGGC		NC_000009.11:g.98270647_98270655delGCCGCCGCC	-	C0004779 109400 Gorlin syndrome
NM_000264.3(PTCH1):c.-15_-4delGGCGGCGGCGGC	5727	PTCH1	Benign	555069082	RCV000204903;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	9	98270647	98270658	NM_000264.3:c.-15_-4delGGCGGCGGCGGC		NC_000009.11:g.98270647_98270658delGCCGCCGCCGCC	-	C0004779 109400 Gorlin syndrome
NM_001166292.1(PTCH2):c.2156G>A (p.Arg719Gln)	8643	PTCH2	Pathogenic	121434397	RCV000006522;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002	1	45293289	45293289	NM_001166292.1:c.2156G>A	NP_001159764.1:p.Arg719Gln	NC_000001.10:g.45293289C>T	OMIM Allelic Variant:603673.0003	C0004779 109400 Gorlin syndrome
NM_016169.3(SUFU):c.1022+1G>A	51684	SUFU	Pathogenic	587776578	RCV000003752; RCV000003753;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C0751291,ORPHA:251863	10	104359302	104359302	NM_016169.3:c.1022+1G>A		NC_000010.10:g.104359302G>A	OMIM Allelic Variant:607035.0003	C0004779 109400 Gorlin syndrome; C0751291 Medulloblastoma, desmoplastic