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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: Developmental Disabilities (D002658)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Myopia (D009216)
Parent Node: Obesity (D009765)
..Starting node ..Cohen syndrome (C536438)
Child Nodes:
Sister Nodes:
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Ayazi syndrome (C537793)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Camera Marugo Cohen syndrome (C537964)
..Clark-Baraitser syndrome (C536208)
..Cohen syndrome (C536438)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..MEHMO syndrome (C537451)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..MOMES Syndrome (C564660)
..MORM syndrome (C536984)
..Obesity Hypoventilation Syndrome (D010845)
..Obesity, Abdominal (D056128)
..Obesity, Hyperphagia, and Developmental Delay (C563938)
..Obesity, Morbid (D009767)
..Pediatric Obesity (D063766)
..Prader-Willi Syndrome (D011218) 2
..Prolactin Deficiency with Obesity and Enlarged Testes (C564870)
..Proopiomelanocortin Deficiency (C565726)
..Proprotein Convertase 1 3 Deficiency (C563423)
..PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..Short Stature-Obesity Syndrome (C564821)
..Vasquez Hurst Sotos syndrome (C536533)
..Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2467

Name:

Cohen syndrome

Definition:

Alternative IDs:

OMIM:216550

ParentIDs:

TreeNumbers:

C05.660.207.620/C536438 |C10.500.507.400.500/C536438 |C10.597.606.643/C536438 |C10.597.613.575/C536438 |C11.744.636/C536438 |C16.131.621.207.620/C536438 |C16.131.666.507.400.500/C536438 |C18.654.726.500/C536438 |C23.888.144.699.500/C536438 |C23.888.592.604.646/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C536438
MeSH: C536438
OMIM: 216550;

Genes: VPS13B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008915	Childhood-onset truncal obesity
3	HP:0007737	Bone spicule pigmentation of the retina	HP:0040284
4	HP:0011504	Bull's eye maculopathy	HP:0040284
5	HP:0001321	Cerebellar hypoplasia
6	HP:0001135	Chorioretinal dystrophy
7	HP:0000444	Convex nasal ridge
8	HP:0002967	Cubitus valgus
9	HP:0000824	Decreased response to growth hormone stimulation test
10	HP:0000823	Delayed puberty
11	HP:0000494	Downslanted palpebral fissures
12	HP:0000297	Facial hypotonia
13	HP:0008872	Feeding difficulties in infancy
14	HP:0001290	Generalized hypotonia
15	HP:0002857	Genu valgum
16	HP:0002705	High, narrow palate
17	HP:0000327	Hypoplasia of the maxilla
18	HP:0001249	Intellectual disability
19	HP:0001382	Joint hypermobility
20	HP:0001601	Laryngomalacia
21	HP:0001882	Leukopenia
22	HP:0002938	Lumbar hyperlordosis
23	HP:0000675	Macrodontia of permanent maxillary central incisor
24	HP:0000252	Microcephaly
25	HP:0000347	Micrognathia
26	HP:0001634	Mitral valve prolapse
27	HP:0001270	Motor delay
28	HP:0000545	Myopia	HP:0040280
29	HP:0004283	Narrow palm
30	HP:0001319	Neonatal hypotonia
31	HP:0001875	Neutropenia
32	HP:0000662	Nyctalopia	HP:0040284
33	HP:0000194	Open mouth
34	HP:0000648	Optic atrophy
35	HP:0001763	Pes planus
36	HP:0000426	Prominent nasal bridge
37	HP:0007663	Reduced visual acuity
38	HP:0001250	Seizure
39	HP:0010049	Short metacarpal
40	HP:0010743	Short metatarsal
41	HP:0000322	Short philtrum
42	HP:0004322	Short stature
43	HP:0000954	Single transverse palmar crease
44	HP:0001518	Small for gestational age
45	HP:0001182	Tapered finger
46	HP:0007074	Thick corpus callosum
47	HP:0000574	Thick eyebrow
48	HP:0002943	Thoracic scoliosis
49	HP:0000505	Visual impairment

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_017890.4(VPS13B):c.22_23delCCinsA (p.Pro8Lysfs)	157680	VPS13B	Likely pathogenic	386834076	RCV000050065;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100026038	100026039	NM_017890.4:c.22_23delCCinsA	NP_060360.3:p.Pro8Lysfs	NC_000008.10:g.100026038_100026039delCCinsA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.219_220delACinsT (p.Lys73Asnfs)	157680	VPS13B	Likely pathogenic	386834075	RCV000050064;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100050722	100050723	NM_017890.4:c.219_220delACinsT	NP_060360.3:p.Lys73Asnfs	NC_000008.10:g.100050722_100050723delACinsT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.292-2A>G	157680	VPS13B	Likely pathogenic	386834079	RCV000050069;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100108538	100108538	NM_017890.4:c.292-2A>G		NC_000008.10:g.100108538A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.404dupT (p.Leu135Phefs)	157680	VPS13B	Likely pathogenic	386834083	RCV000050074;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100108652	100108652	NM_017890.4:c.404dupT	NP_060360.3:p.Leu135Phefs	NC_000008.10:g.100108652dupT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.467_470delATAA (p.Asn156Ilefs)	157680	VPS13B	Likely pathogenic	386834090	RCV000050081;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100115235	100115238	NM_017890.4:c.467_470delATAA	NP_060360.3:p.Asn156Ilefs	NC_000008.10:g.100115235_100115238delATAA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.626_627delCA (p.Thr209Serfs)	157680	VPS13B	Likely pathogenic	386834100	RCV000050093;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100123371	100123372	NM_017890.4:c.626_627delCA	NP_060360.3:p.Thr209Serfs	NC_000008.10:g.100123371_100123372delCA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs)	157680	VPS13B	Likely pathogenic	386834117	RCV000050111;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100128081	100128082	NM_017890.4:c.916_917delGA	NP_060360.3:p.Asp306Tyrfs	NC_000008.10:g.100128081_100128082delGA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter)	157680	VPS13B	Likely pathogenic	386834070	RCV000050058;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100146872	100146872	NM_017890.4:c.1219C>T	NP_060360.3:p.Gln407Ter	NC_000008.10:g.100146872C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.1225G>T (p.Glu409Ter)	157680	VPS13B	Likely pathogenic	386834071	RCV000050059;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100146878	100146878	NM_017890.4:c.1225G>T	NP_060360.3:p.Glu409Ter	NC_000008.10:g.100146878G>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.1269_1273delATTGT (p.Cys425Glyfs)	157680	VPS13B	Likely pathogenic	386834072	RCV000050060;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100146922	100146926	NM_017890.4:c.1269_1273delATTGT	NP_060360.3:p.Cys425Glyfs	NC_000008.10:g.100146922_100146926delATTGT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.1844-2A>G	157680	VPS13B	Likely pathogenic	386834073	RCV000050061;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100160067	100160067	NM_017890.4:c.1844-2A>G		NC_000008.10:g.100160067A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.2047delC (p.Gln683Serfs)	157680	VPS13B	Likely pathogenic	386834074	RCV000050062;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100168810	100168810	NM_017890.4:c.2047delC	NP_060360.3:p.Gln683Serfs	NC_000008.10:g.100168810delC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter)	157680	VPS13B	Likely pathogenic;Pathogenic	180177356	RCV000050063; RCV000058892;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100168837	100168837	NM_017890.4:c.2074C>T	NP_060360.3:p.Arg692Ter	NC_000008.10:g.100168837C>T	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter)	157680	VPS13B	Pathogenic	140936527	RCV000175340; RCV000081887;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100286501	100286501	NM_017890.4:c.2591C>A	NP_060360.3:p.Ser864Ter	NC_000008.10:g.100286501C>A	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.2651-1G>A	157680	VPS13B	Likely pathogenic	386834077	RCV000050066;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100287308	100287308	NM_017890.4:c.2651-1G>A		NC_000008.10:g.100287308G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs)	157680	VPS13B	Likely pathogenic;Pathogenic	180177357	RCV000050067; RCV000058893;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100287385	100287388	NM_017890.4:c.2727_2730dupGCTC	NP_060360.3:p.Asn911Alafs	NC_000008.10:g.100287385_100287388dupGCTC	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter)	157680	VPS13B	Likely pathogenic	386834078	RCV000050068;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100396500	100396500	NM_017890.4:c.2889G>A	NP_060360.3:p.Trp963Ter	NC_000008.10:g.100396500G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter)	157680	VPS13B	Pathogenic	120074152	RCV000002957;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100396522	100396522	NM_017890.4:c.2911C>T	NP_060360.3:p.Arg971Ter	NC_000008.10:g.100396522C>T	OMIM Allelic Variant:607817.0006	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.2934+1_2934+2delGT	157680	VPS13B	Likely pathogenic;Pathogenic	180177358	RCV000050070; RCV000058894;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100396546	100396547	NM_017890.4:c.2934+1_2934+2delGT		NC_000008.10:g.100396546_100396547delGT	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.3348_3349delCT (p.Cys1117Phefs)	157680	VPS13B	Pathogenic	180177327	RCV000002952; RCV000058939;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100454766	100454767	NM_017890.4:c.3348_3349delCT	NP_060360.3:p.Cys1117Phefs	NC_000008.10:g.100454766_100454767delCT	OMIM Allelic Variant:607817.0001	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter)	157680	VPS13B	Likely pathogenic	386834080	RCV000050071;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100454845	100454845	NM_017890.4:c.3427C>T	NP_060360.3:p.Arg1143Ter	NC_000008.10:g.100454845C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter)	157680	VPS13B	Pathogenic	140353201	RCV000176496; RCV000081893;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100479794	100479794	NM_017890.4:c.3598C>T	NP_060360.3:p.Arg1200Ter	NC_000008.10:g.100479794C>T	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter)	157680	VPS13B	Likely pathogenic	386834081	RCV000050072;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100479814	100479814	NM_017890.4:c.3618T>A	NP_060360.3:p.Cys1206Ter	NC_000008.10:g.100479814T>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.3666+2T>C	157680	VPS13B	Likely pathogenic	386834082	RCV000050073;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100479864	100479864	NM_017890.4:c.3666+2T>C		NC_000008.10:g.100479864T>C	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs)	157680	VPS13B	Likely pathogenic	386834084	RCV000050075;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523366	100523366	NM_017890.4:c.4334delA	NP_060360.3:p.Gln1445Argfs	NC_000008.10:g.100523366delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4396dupA (p.Thr1466Asnfs)	157680	VPS13B	Likely pathogenic	386834085	RCV000050076;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523428	100523428	NM_017890.4:c.4396dupA	NP_060360.3:p.Thr1466Asnfs	NC_000008.10:g.100523428dupA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter)	157680	VPS13B	Likely pathogenic	386834086	RCV000050077;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523443	100523443	NM_017890.4:c.4411C>T	NP_060360.3:p.Arg1471Ter	NC_000008.10:g.100523443C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter)	157680	VPS13B	Pathogenic	120074151	RCV000002956;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523503	100523503	NM_017890.4:c.4471G>T	NP_060360.3:p.Glu1491Ter	NC_000008.10:g.100523503G>T	OMIM Allelic Variant:607817.0005	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4474delA (p.Ile1492Phefs)	157680	VPS13B	Likely pathogenic	386834087	RCV000050078;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523506	100523506	NM_017890.4:c.4474delA	NP_060360.3:p.Ile1492Phefs	NC_000008.10:g.100523506delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4480_4482delCTT (p.Leu1494del)	157680	VPS13B	Likely pathogenic	386834088	RCV000050079;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523512	100523514	NM_017890.4:c.4480_4482delCTT	NP_060360.3:p.Leu1494del	NC_000008.10:g.100523512_100523514delCTT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4572dupA (p.Glu1525Argfs)	157680	VPS13B	Likely pathogenic	386834089	RCV000050080;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100523604	100523604	NM_017890.4:c.4572dupA	NP_060360.3:p.Glu1525Argfs	NC_000008.10:g.100523604dupA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4820+2T>C	157680	VPS13B	Likely pathogenic	386834091	RCV000050082;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100533240	100533240	NM_017890.4:c.4820+2T>C		NC_000008.10:g.100533240T>C	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer)	157680	VPS13B	Likely pathogenic;Pathogenic	180177359	RCV000050083; RCV000058895;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100568735	100568737	NM_017890.4:c.4878_4880dupATA	NP_060360.3:p.Tyr1627_Gln1961delinsTer	NC_000008.10:g.100568735_100568737dupATA	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter)	157680	VPS13B	Likely pathogenic;Pathogenic	180177360	RCV000169432; RCV000058896;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100568780	100568780	NM_017890.4:c.4923G>A	NP_060360.3:p.Trp1641Ter	NC_000008.10:g.100568780G>A	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter)	157680	VPS13B	Likely pathogenic	386834093	RCV000050204;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100587947	100587947	NM_017890.4:c.5086C>T	NP_060360.3:p.Arg1696Ter	NC_000008.10:g.100587947C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5215_5232del18 (p.Ser1739_Gln1744del)	157680	VPS13B	Likely pathogenic;Pathogenic	180177362	RCV000050084; RCV000058898;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100589781	100589798	NM_017890.4:c.5215_5232del18	NP_060360.3:p.Ser1739_Gln1744del	NC_000008.10:g.100589781_100589798del18	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.5331dupT (p.Asp1778Terfs)	157680	VPS13B	Likely pathogenic	386834094	RCV000050085;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654074	100654074	NM_017890.4:c.5331dupT	NP_060360.3:p.Asp1778Terfs	NC_000008.10:g.100654074dupT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5334dupT (p.Gly1779Trpfs)	157680	VPS13B	Likely pathogenic	786204533	RCV000169235;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654077	100654077	NM_017890.4:c.5334dupT	NP_060360.3:p.Gly1779Trpfs	NC_000008.10:g.100654077dupT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs)	157680	VPS13B	Likely pathogenic;Pathogenic	180177363	RCV000050086; RCV000058899;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100654169	100654170	NM_017890.4:c.5426_5427dupAG	NP_060360.3:p.Gln1810Serfs	NC_000008.10:g.100654169_100654170dupAG	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs)	157680	VPS13B	Likely pathogenic;Pathogenic	180177364	RCV000050087; RCV000058900;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100654204	100654204	NM_017890.4:c.5461dupC	NP_060360.3:p.Arg1821Profs	NC_000008.10:g.100654204dupC	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Terfs)	157680	VPS13B	Likely pathogenic	386834095	RCV000050088;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654356	100654357	NM_017890.4:c.5613_5614insT	NP_060360.3:p.Lys1872Terfs	NC_000008.10:g.100654356_100654357insT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5737dupA (p.Ile1913Asnfs)	157680	VPS13B	Likely pathogenic	386834096	RCV000050089;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654480	100654480	NM_017890.4:c.5737dupA	NP_060360.3:p.Ile1913Asnfs	NC_000008.10:g.100654480dupA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5750delC (p.Ser1917Phefs)	157680	VPS13B	Likely pathogenic	386834097	RCV000050090;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654493	100654493	NM_017890.4:c.5750delC	NP_060360.3:p.Ser1917Phefs	NC_000008.10:g.100654493delC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs)	157680	VPS13B	Likely pathogenic	386834098	RCV000050091;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654552	100654553	NM_017890.4:c.5809_5810delAT	NP_060360.3:p.Ile1937Cysfs	NC_000008.10:g.100654552_100654553delAT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter)	157680	VPS13B	Likely pathogenic	386834099	RCV000050092;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654570	100654570	NM_017890.4:c.5827C>T	NP_060360.3:p.Arg1943Ter	NC_000008.10:g.100654570C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.5983+2dupT	157680	VPS13B	Pathogenic	587777381	RCV000119263;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100654728	100654728	NM_017890.4:c.5983+2dupT			OMIM Allelic Variant:607817.0014	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.6420_6421delGA (p.Gln2140Hisfs)	157680	VPS13B	Likely pathogenic	386834101	RCV000050094;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100712051	100712052	NM_017890.4:c.6420_6421delGA	NP_060360.3:p.Gln2140Hisfs	NC_000008.10:g.100712051_100712052delGA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg)	157680	VPS13B	Pathogenic	120074149	RCV000002953;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100729447	100729447	NM_017890.4:c.6578T>G	NP_060360.3:p.Leu2193Arg	NC_000008.10:g.100729447T>G	OMIM Allelic Variant:607817.0002	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.6687delA (p.Gln2229Hisfs)	157680	VPS13B	Likely pathogenic	386834102	RCV000050095;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100729556	100729556	NM_017890.4:c.6687delA	NP_060360.3:p.Gln2229Hisfs	NC_000008.10:g.100729556delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.6732+1G>A	157680	VPS13B	Likely pathogenic;Pathogenic	180177366	RCV000050096; RCV000058902;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100729602	100729602	NM_017890.4:c.6732+1G>A		NC_000008.10:g.100729602G>A	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.6733-2A>G	157680	VPS13B	Likely pathogenic	386834103	RCV000050097;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100732571	100732571	NM_017890.4:c.6733-2A>G		NC_000008.10:g.100732571A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys)	157680	VPS13B	Likely pathogenic	386834104	RCV000050098;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100733172	100733172	NM_017890.4:c.7022A>G	NP_060360.3:p.Tyr2341Cys	NC_000008.10:g.100733172A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter)	157680	VPS13B	Pathogenic	120074150	RCV000002954;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100733201	100733201	NM_017890.4:c.7051C>T	NP_060360.3:p.Arg2351Ter	NC_000008.10:g.100733201C>T	OMIM Allelic Variant:607817.0003	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7221delG (p.Gln2407Hisfs)	157680	VPS13B	Likely pathogenic	386834105	RCV000050099;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100779097	100779097	NM_017890.4:c.7221delG	NP_060360.3:p.Gln2407Hisfs	NC_000008.10:g.100779097delG	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile)	157680	VPS13B	Likely benign;Uncertain significance	201963516	RCV000169023; RCV000081912;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100789121	100789121	NM_017890.4:c.7441G>A	NP_060360.3:p.Val2481Ile	NC_000008.10:g.100789121G>A	HGMD:CM1211526	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.7504+1G>A	157680	VPS13B	Likely pathogenic	386834106	RCV000050100;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100789185	100789185	NM_017890.4:c.7504+1G>A		NC_000008.10:g.100789185G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter)	157680	VPS13B	Likely pathogenic	386834107	RCV000050101;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100791008	100791008	NM_017890.4:c.7603C>T	NP_060360.3:p.Arg2535Ter	NC_000008.10:g.100791008C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7610G>A (p.Trp2537Ter)	157680	VPS13B	Likely pathogenic	386834108	RCV000050102;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100791015	100791015	NM_017890.4:c.7610G>A	NP_060360.3:p.Trp2537Ter	NC_000008.10:g.100791015G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp)	157680	VPS13B	Pathogenic	120074153	RCV000002958;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100796622	100796622	NM_017890.4:c.7934G>A	NP_060360.3:p.Gly2645Asp	NC_000008.10:g.100796622G>A	OMIM Allelic Variant:607817.0007	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.7936delC (p.Gln2646Argfs)	157680	VPS13B	Likely pathogenic	386834109	RCV000050103;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100796624	100796624	NM_017890.4:c.7936delC	NP_060360.3:p.Gln2646Argfs	NC_000008.10:g.100796624delC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter)	157680	VPS13B	Likely pathogenic	386834110	RCV000050104;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100821705	100821705	NM_017890.4:c.8119C>T	NP_060360.3:p.Arg2707Ter	NC_000008.10:g.100821705C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8341delC (p.Leu2781Terfs)	157680	VPS13B	Likely pathogenic	386834111	RCV000050105;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100829936	100829936	NM_017890.4:c.8341delC	NP_060360.3:p.Leu2781Terfs	NC_000008.10:g.100829936delC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr)	157680	VPS13B	Pathogenic	120074155	RCV000002961;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100830701	100830701	NM_017890.4:c.8459T>C	NP_060360.3:p.Ile2820Thr	NC_000008.10:g.100830701T>C	OMIM Allelic Variant:607817.0010	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8472G>A (p.Trp2824Ter)	157680	VPS13B	Likely pathogenic	386834112	RCV000050106;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100830714	100830714	NM_017890.4:c.8472G>A	NP_060360.3:p.Trp2824Ter	NC_000008.10:g.100830714G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter)	157680	VPS13B	Likely pathogenic	386834113	RCV000050107;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100830757	100830757	NM_017890.4:c.8515C>T	NP_060360.3:p.Arg2839Ter	NC_000008.10:g.100830757C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8611delA (p.Thr2871Hisfs)	157680	VPS13B	Likely pathogenic	386834114	RCV000050108;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100831031	100831031	NM_017890.4:c.8611delA	NP_060360.3:p.Thr2871Hisfs	NC_000008.10:g.100831031delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8697-9A>G	157680	VPS13B	Likely pathogenic	386834116	RCV000050110;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100831631	100831631	NM_017890.4:c.8697-9A>G		NC_000008.10:g.100831631A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8697-2A>G	157680	VPS13B	Likely pathogenic	386834115	RCV000050109;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100831638	100831638	NM_017890.4:c.8697-2A>G		NC_000008.10:g.100831638A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter)	157680	VPS13B	Pathogenic	727504219	RCV000178693; RCV000154129;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100832226	100832226	NM_017890.4:c.8945T>A	NP_060360.3:p.Leu2982Ter	NC_000008.10:g.100832226T>A	-	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser)	157680	VPS13B	Benign;Pathogenic;Uncertain significance	28940272	RCV000002955; RCV000081920;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN169374	8	100832259	100832259	NM_017890.4:c.8978A>G	NP_060360.3:p.Asn2993Ser	NC_000008.10:g.100832259A>G	HGMD:CM041280,OMIM Allelic Variant:607817.0004	C0265223 216550 Cohen syndrome; CN169374 not specified
NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter)	157680	VPS13B	Pathogenic	797046098	RCV000192341;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100832271	100832271	NM_017890.4:c.8990G>A	NP_060360.3:p.Trp2997Ter	NC_000008.10:g.100832271G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs)	157680	VPS13B	Likely pathogenic;Pathogenic	180177329	RCV000002960; RCV000058940;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100836061	100836061	NM_017890.4:c.9260dupT	NP_060360.3:p.Leu3087Phefs*20	NC_000008.10:g.100836061dupT	OMIM Allelic Variant:607817.0009	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.9406-1G>T	157680	VPS13B	Likely pathogenic	386834119	RCV000050112;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100844596	100844596	NM_017890.4:c.9406-1G>T		NC_000008.10:g.100844596G>C,NC_000008.10:g.100844596G>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.9406-1G>C	157680	VPS13B	Pathogenic	386834119	RCV000169632;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100844596	100844596	NM_017890.4:c.9406-1G>C		NC_000008.10:g.100844596G>C,NC_000008.10:g.100844596G>T	OMIM Allelic Variant:607817.0016	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.9690-2A>G	157680	VPS13B	Likely pathogenic	386834120	RCV000050113;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100847423	100847423	NM_017890.4:c.9690-2A>G		NC_000008.10:g.100847423A>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.9706delT (p.Tyr3236Ilefs)	157680	VPS13B	Likely pathogenic	386834121	RCV000050114;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100847441	100847441	NM_017890.4:c.9706delT	NP_060360.3:p.Tyr3236Ilefs	NC_000008.10:g.100847441delT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.9731delA (p.Tyr3244Phefs)	157680	VPS13B	Likely pathogenic	386834122	RCV000050115;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100847466	100847466	NM_017890.4:c.9731delA	NP_060360.3:p.Tyr3244Phefs	NC_000008.10:g.100847466delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.10076_10077delCA (p.Thr3359Serfs)	157680	VPS13B	Likely pathogenic	386834054	RCV000050041;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100861062	100861063	NM_017890.4:c.10076_10077delCA	NP_060360.3:p.Thr3359Serfs	NC_000008.10:g.100861062_100861063delCA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs)	157680	VPS13B	Likely pathogenic;Pathogenic	386834055	RCV000050042;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100865698	100865698	NM_017890.4:c.10156dupA	NP_060360.3:p.Thr3386Asnfs	NC_000008.10:g.100865698dupA	Genome Clinic of Geneva,University Hospital of Geneva:14_April2016	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.10240_10282del43 (p.Leu3414Valfs)	157680	VPS13B	Pathogenic	-1	RCV000211543;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100865782	100865824	NM_017890.4:c.10240_10282del43	NP_060360.3:p.Leu3414Valfs		Genome Clinic of Geneva,University Hospital of Geneva:13_April2016	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.10841_10844delTCTC (p.Leu3614Profs)	157680	VPS13B	Likely pathogenic	386834056	RCV000050043;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100866383	100866386	NM_017890.4:c.10841_10844delTCTC	NP_060360.3:p.Leu3614Profs	NC_000008.10:g.100866383_100866386delTCTC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter)	157680	VPS13B	Pathogenic	120074154	RCV000002959;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100866430	100866430	NM_017890.4:c.10888C>T	NP_060360.3:p.Gln3630Ter	NC_000008.10:g.100866430C>T	OMIM Allelic Variant:607817.0008	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter)	157680	VPS13B	Likely pathogenic	386834057	RCV000050044;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100871535	100871535	NM_017890.4:c.10946G>A	NP_060360.3:p.Trp3649Ter	NC_000008.10:g.100871535G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11119+2T>C	157680	VPS13B	Pathogenic	587777382	RCV000119264;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100871710	100871710	NM_017890.4:c.11119+2T>C		8:g.100871710T>C	OMIM Allelic Variant:607817.0015	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11125delC (p.Leu3709Serfs)	157680	VPS13B	Likely pathogenic	386834058	RCV000050045;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100874009	100874009	NM_017890.4:c.11125delC	NP_060360.3:p.Leu3709Serfs	NC_000008.10:g.100874009delC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs)	157680	VPS13B	Likely pathogenic	386834059	RCV000050046;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100874053	100874056	NM_017890.4:c.11169_11172dupGGAC	NP_060360.3:p.Arg3725Glyfs	NC_000008.10:g.100874053_100874056dupGGAC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter)	157680	VPS13B	Likely pathogenic	386834060	RCV000050047;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100874100	100874100	NM_017890.4:c.11216G>A	NP_060360.3:p.Trp3739Ter	NC_000008.10:g.100874100G>A	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter)	157680	VPS13B	Likely pathogenic	386834061	RCV000050048;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100880540	100880540	NM_017890.4:c.11314C>T	NP_060360.3:p.Gln3772Ter	NC_000008.10:g.100880540C>T	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11453C>G (p.Ser3818Ter)	157680	VPS13B	Pathogenic	794727771	RCV000179226;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100880679	100880679	NM_017890.4:c.11453C>G	NP_060360.3:p.Ser3818Ter	NC_000008.10:g.100880679C>G	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11505delA (p.Lys3835Asnfs)	157680	VPS13B	Likely pathogenic	386834062	RCV000050049;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883050	100883050	NM_017890.4:c.11505delA	NP_060360.3:p.Lys3835Asnfs	NC_000008.10:g.100883050delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11556dupT (p.Val3853Cysfs)	157680	VPS13B	Likely pathogenic	386834063	RCV000050050;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883101	100883101	NM_017890.4:c.11556dupT	NP_060360.3:p.Val3853Cysfs	NC_000008.10:g.100883101dupT	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11564delA (p.Tyr3855Leufs)	157680	VPS13B	Likely pathogenic	386834064	RCV000050051;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883109	100883109	NM_017890.4:c.11564delA	NP_060360.3:p.Tyr3855Leufs	NC_000008.10:g.100883109delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11598delA (p.Glu3867Lysfs)	157680	VPS13B	Likely pathogenic	386834065	RCV000050052;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883703	100883703	NM_017890.4:c.11598delA	NP_060360.3:p.Glu3867Lysfs	NC_000008.10:g.100883703delA	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs)	157680	VPS13B	Likely pathogenic	386834066	RCV000050053;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883800	100883803	NM_017890.4:c.11695_11698delAGTG	NP_060360.3:p.Ser3901Argfs	NC_000008.10:g.100883800_100883803delAGTG	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys)	157680	VPS13B	Likely pathogenic	386834067	RCV000050054;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883885	100883889	NM_017890.4:c.11780_11784delCAGTGinsAA	NP_060360.3:p.Thr3927_Val3928delinsLys	NC_000008.10:g.100883885_100883889delCAGTGinsAA,NC_000008.10:g.100883885_1008838	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAGAA (p.Thr3927Lysfs)	157680	VPS13B	Likely pathogenic	386834067	RCV000169612;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100883885	100883889	NM_017890.4:c.11780_11784delCAGTGinsAGAA	NP_060360.3:p.Thr3927Lysfs	NC_000008.10:g.100883885_100883889delCAGTGinsAA,NC_000008.10:g.100883885_1008838	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp)	157680	VPS13B	Likely pathogenic;Uncertain significance	386834068	RCV000050055; RCV000081876;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100887650	100887652	NM_017890.4:c.11825_11827dupATG	NP_060360.3:p.Asp3942_Gly3943insAsp	NC_000008.10:g.100887650_100887652dupATG	HGMD:CI110618	C0265223 216550 Cohen syndrome; CN221809 not provided
NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs)	157680	VPS13B	Likely pathogenic	386834069	RCV000050056;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100887731	100887740	NM_017890.4:c.11906_11915delCCAGCTGTTC	NP_060360.3:p.Pro3969Leufs	NC_000008.10:g.100887731_100887740delCCAGCTGTTC	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11906_11916delCCAGCTGTTCTinsG (p.Pro3969Argfs)	157680	VPS13B	Likely pathogenic	786204456	RCV000169093;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005	8	100887731	100887741	NM_017890.4:c.11906_11916delCCAGCTGTTCTinsG	NP_060360.3:p.Pro3969Argfs	NC_000008.10:g.100887731_100887741delCCAGCTGTTCTinsG	-	C0265223 216550 Cohen syndrome
NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs)	157680	VPS13B	Likely pathogenic;Pathogenic	180177374	RCV000050057; RCV000058889;	N	MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809	8	100887732	100887732	NM_017890.4:c.11907dupC	NP_060360.3:p.Ser3970Glnfs	NC_000008.10:g.100887732dupC	-	C0265223 216550 Cohen syndrome; CN221809 not provided