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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: Chromosome Disorders (D025063)
..Starting node ..Sotos Syndrome (D058495)
Child Nodes:
........Nevo syndrome (C536113)
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10349

Name:

Sotos Syndrome

Definition:

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

Alternative IDs:

OMIM:117550

ParentIDs:

MESH:D000015|MESH:D025063

TreeNumbers:

C16.131.077.889 |C16.131.260.905 |C16.320.180.905

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: D058495
MeSH: D058495
OMIM: 117550;

Genes: NSD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005616	Accelerated skeletal maturation
3	HP:0006288	Advanced eruption of teeth
4	HP:0001631	Atrial septal defect
5	HP:0000708	Behavioral abnormality
6	HP:0002389	Cavum septum pellucidum
7	HP:0000405	Conductive hearing impairment
8	HP:0000268	Dolichocephaly
9	HP:0000494	Downslanted palpebral fissures
10	HP:0002280	Enlarged cisterna magna
11	HP:0002474	Expressive language delay
12	HP:0002007	Frontal bossing
13	HP:0002857	Genu valgum
14	HP:0001263	Global developmental delay
15	HP:0001952	Glucose intolerance
16	HP:0009890	High anterior hairline
17	HP:0002705	High, narrow palate
18	HP:0000540	Hypermetropia
19	HP:0001347	Hyperreflexia
20	HP:0000316	Hypertelorism
21	HP:0001249	Intellectual disability
22	HP:0001388	Joint laxity
23	HP:0001176	Large hands
24	HP:0001833	Long foot
25	HP:0000256	Macrocephaly
26	HP:0000303	Mandibular prognathia
27	HP:0001319	Neonatal hypotonia
28	HP:0002667	Nephroblastoma
29	HP:0000639	Nystagmus
30	HP:0000388	Otitis media
31	HP:0001338	Partial agenesis of the corpus callosum
32	HP:0001643	Patent ductus arteriosus
33	HP:0001763	Pes planus
34	HP:0000307	Pointed chin
35	HP:0002370	Poor coordination
36	HP:0002650	Scoliosis
37	HP:0001250	Seizure
38	HP:0001792	Small nail
39	HP:0003745	Sporadic
40	HP:0000486	Strabismus
41	HP:0000098	Tall stature
42	HP:0001629	Ventricular septal defect

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_022455.4(NSD1):c.108A>G (p.Gln36=)	64324	NSD1	Uncertain significance	549091873	RCV000146758;	N	MedGen:CN035106,OMIM:117550	5	176562212	176562212	NM_022455.4:c.108A>G	NP_071900.2:p.Gln36=	NC_000005.9:g.176562212A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.142A>G (p.Met48Val)	64324	NSD1	Uncertain significance	200735877	RCV000146764;	N	MedGen:CN035106,OMIM:117550	5	176562246	176562246	NM_022455.4:c.142A>G	NP_071900.2:p.Met48Val	NC_000005.9:g.176562246A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1077delG (p.Arg359Serfs)	64324	NSD1	Pathogenic	587784068	RCV000146757;	N	MedGen:CN035106,OMIM:117550	5	176631134	176631134	NM_022455.4:c.1077delG	NP_071900.2:p.Arg359Serfs	NC_000005.9:g.176631134delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1149C>T (p.Ile383=)	64324	NSD1	Benign;Uncertain significance	34921128	RCV000146759; RCV000153607;	N	MedGen:CN035106,OMIM:117550; MedGen:CN169374	5	176631206	176631206	NM_022455.4:c.1149C>T	NP_071900.2:p.Ile383=	NC_000005.9:g.176631206C>T	-	CN169374 not specified; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1224A>G (p.Gly408=)	64324	NSD1	Uncertain significance	587784069	RCV000146760;	N	MedGen:CN035106,OMIM:117550	5	176631281	176631281	NM_022455.4:c.1224A>G	NP_071900.2:p.Gly408=	NC_000005.9:g.176631281A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1237-10T>C	64324	NSD1	Uncertain significance	587784070	RCV000146761;	N	MedGen:CN035106,OMIM:117550	5	176636627	176636627	NM_022455.4:c.1237-10T>C		NC_000005.9:g.176636627T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1262G>A (p.Trp421Ter)	64324	NSD1	Pathogenic	587784071	RCV000146762;	N	MedGen:CN035106,OMIM:117550	5	176636662	176636662	NM_022455.4:c.1262G>A	NP_071900.2:p.Trp421Ter	NC_000005.9:g.176636662G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1264dupG (p.Glu422Glyfs)	64324	NSD1	Pathogenic	797045804	RCV000195020;	N	MedGen:CN035106,OMIM:117550	5	176636664	176636664	NM_022455.4:c.1264dupG	NP_071900.2:p.Glu422Glyfs	NC_000005.9:g.176636664dupG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1310C>G (p.Ser437Ter)	64324	NSD1	Pathogenic	121908067	RCV000004351;	N	MedGen:CN035106,OMIM:117550	5	176636710	176636710	NM_022455.4:c.1310C>G	NP_071900.2:p.Ser437Ter	NC_000005.9:g.176636710C>G	OMIM Allelic Variant:606681.0002	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1428G>A (p.Leu476=)	64324	NSD1	Uncertain significance	587784072	RCV000146763;	N	MedGen:CN035106,OMIM:117550	5	176636828	176636828	NM_022455.4:c.1428G>A	NP_071900.2:p.Leu476=	NC_000005.9:g.176636828G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1456delT (p.Ser486Leufs)	64324	NSD1	Pathogenic	587784073	RCV000146765;	N	MedGen:CN035106,OMIM:117550	5	176636856	176636856	NM_022455.4:c.1456delT	NP_071900.2:p.Ser486Leufs	NC_000005.9:g.176636856delT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1471G>A (p.Glu491Lys)	64324	NSD1	Uncertain significance	587784074	RCV000146766;	N	MedGen:CN035106,OMIM:117550	5	176636871	176636871	NM_022455.4:c.1471G>A	NP_071900.2:p.Glu491Lys	NC_000005.9:g.176636871G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr)	64324	NSD1	Uncertain significance	559617787	RCV000146768;	N	MedGen:CN035106,OMIM:117550	5	176636958	176636958	NM_022455.4:c.1558G>A	NP_071900.2:p.Ala520Thr	NC_000005.9:g.176636958G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1742delA (p.Glu581Aspfs)	64324	NSD1	Pathogenic	794729232	RCV000184053;	N	MedGen:CN035106,OMIM:117550	5	176637142	176637142	NM_022455.4:c.1742delA	NP_071900.2:p.Glu581Aspfs	NC_000005.9:g.176637142delA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1802dupA (p.Cys602Valfs)	64324	NSD1	Pathogenic	797045805	RCV000193272;	N	MedGen:CN035106,OMIM:117550	5	176637202	176637202	NM_022455.4:c.1802dupA	NP_071900.2:p.Cys602Valfs	NC_000005.9:g.176637202dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter)	64324	NSD1	Pathogenic	587784076	RCV000146770;	N	MedGen:CN035106,OMIM:117550	5	176637210	176637210	NM_022455.4:c.1810C>T	NP_071900.2:p.Arg604Ter	NC_000005.9:g.176637210C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1811G>T (p.Arg604Leu)	64324	NSD1	Uncertain significance	61744451	RCV000146771;	N	MedGen:CN035106,OMIM:117550	5	176637211	176637211	NM_022455.4:c.1811G>T	NP_071900.2:p.Arg604Leu	NC_000005.9:g.176637211G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter)	64324	NSD1	Pathogenic	587784077	RCV000146772;	N	MedGen:CN035106,OMIM:117550	5	176637231	176637231	NM_022455.4:c.1831C>T	NP_071900.2:p.Arg611Ter	NC_000005.9:g.176637231C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2014_2018delACAGA (p.Thr672Glufs)	64324	NSD1	Pathogenic	587784078	RCV000146774;	N	MedGen:CN035106,OMIM:117550	5	176637414	176637418	NM_022455.4:c.2014_2018delACAGA	NP_071900.2:p.Thr672Glufs	NC_000005.9:g.176637414_176637418delACAGA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2048delA (p.Lys683Argfs)	64324	NSD1	Pathogenic	587784079	RCV000146775;	N	MedGen:CN035106,OMIM:117550	5	176637448	176637448	NM_022455.4:c.2048delA	NP_071900.2:p.Lys683Argfs	NC_000005.9:g.176637448delA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2049_2053delGATAA (p.Ile684Valfs)	64324	NSD1	Pathogenic	587784080	RCV000146776;	N	MedGen:CN035106,OMIM:117550	5	176637449	176637453	NM_022455.4:c.2049_2053delGATAA	NP_071900.2:p.Ile684Valfs	NC_000005.9:g.176637449_176637453delGATAA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2064delG (p.Arg688Serfs)	64324	NSD1	Pathogenic	587784081	RCV000146777;	N	MedGen:CN035106,OMIM:117550	5	176637464	176637464	NM_022455.4:c.2064delG	NP_071900.2:p.Arg688Serfs	NC_000005.9:g.176637464delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2124_2127delTACA (p.His708Glnfs)	64324	NSD1	Pathogenic	587784082	RCV000146779;	N	MedGen:CN035106,OMIM:117550	5	176637524	176637527	NM_022455.4:c.2124_2127delTACA	NP_071900.2:p.His708Glnfs	NC_000005.9:g.176637524_176637527delTACA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2167dupA (p.Thr723Asnfs)	64324	NSD1	Pathogenic	797045807	RCV000194942;	N	MedGen:CN035106,OMIM:117550	5	176637567	176637567	NM_022455.4:c.2167dupA	NP_071900.2:p.Thr723Asnfs	NC_000005.9:g.176637567dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2190_2191delCTinsG (p.Ser731Leufs)	64324	NSD1	Pathogenic	797045808	RCV000193174;	N	MedGen:CN035106,OMIM:117550	5	176637590	176637591	NM_022455.4:c.2190_2191delCTinsG	NP_071900.2:p.Ser731Leufs	NC_000005.9:g.176637590_176637591delCTinsG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2276C>G (p.Ser759Ter)	64324	NSD1	Pathogenic	587784084	RCV000146782;	N	MedGen:CN035106,OMIM:117550	5	176637676	176637676	NM_022455.4:c.2276C>G	NP_071900.2:p.Ser759Ter	NC_000005.9:g.176637676C>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2295delC (p.Ser766Argfs)	64324	NSD1	Pathogenic	587784085	RCV000146784;	N	MedGen:CN035106,OMIM:117550	5	176637695	176637695	NM_022455.4:c.2295delC	NP_071900.2:p.Ser766Argfs	NC_000005.9:g.176637695delC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2339C>A (p.Ser780Ter)	64324	NSD1	Pathogenic	201327209	RCV000146785;	N	MedGen:CN035106,OMIM:117550	5	176637739	176637739	NM_022455.4:c.2339C>A	NP_071900.2:p.Ser780Ter	NC_000005.9:g.176637739C>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2349delA (p.Lys783Asnfs)	64324	NSD1	Pathogenic	398124374	RCV000178991; RCV000082109;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176637749	176637749	NM_022455.4:c.2349delA	NP_071900.2:p.Lys783Asnfs	NC_000005.9:g.176637749delA	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2350C>T (p.Gln784Ter)	64324	NSD1	Likely pathogenic	374740802	RCV000195430;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002; MedGen:CN035106,OMIM:117550	5	176637750	176637750	NM_022455.4:c.2350C>T	NP_071900.2:p.Gln784Ter	NC_000005.9:g.176637750C>G,NC_000005.9:g.176637750C>T	-	C0004903 130650 Beckwith-Wiedemann syndrome; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2386_2389delGAAA (p.Glu796Ilefs)	64324	NSD1	Pathogenic	587784086	RCV000146786;	N	MedGen:CN035106,OMIM:117550	5	176637786	176637789	NM_022455.4:c.2386_2389delGAAA	NP_071900.2:p.Glu796Ilefs	NC_000005.9:g.176637786_176637789delGAAA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2399T>C (p.Met800Thr)	64324	NSD1	Uncertain significance	142023792	RCV000146787; RCV000082111;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176637799	176637799	NM_022455.4:c.2399T>C	NP_071900.2:p.Met800Thr	NC_000005.9:g.176637799T>C	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe)	64324	NSD1	Benign;Uncertain significance	115722008	RCV000146788; RCV000082112;	N	MedGen:CN035106,OMIM:117550; MedGen:CN169374	5	176637850	176637850	NM_022455.4:c.2450C>T	NP_071900.2:p.Ser817Phe	NC_000005.9:g.176637850C>T	-	CN169374 not specified; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2639delG (p.Gly880Glufs)	64324	NSD1	Pathogenic	587784087	RCV000146789;	N	MedGen:CN035106,OMIM:117550	5	176638039	176638039	NM_022455.4:c.2639delG	NP_071900.2:p.Gly880Glufs	NC_000005.9:g.176638039delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2654C>A (p.Ser885Ter)	64324	NSD1	Pathogenic	587784088	RCV000146790;	N	MedGen:CN035106,OMIM:117550	5	176638054	176638054	NM_022455.4:c.2654C>A	NP_071900.2:p.Ser885Ter	NC_000005.9:g.176638054C>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2827delG (p.Asp943Thrfs)	64324	NSD1	Pathogenic	587784089	RCV000146792;	N	MedGen:CN035106,OMIM:117550	5	176638227	176638227	NM_022455.4:c.2827delG	NP_071900.2:p.Asp943Thrfs	NC_000005.9:g.176638227delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2835T>C (p.Ser945=)	64324	NSD1	Benign;Uncertain significance	145987330	RCV000146793; RCV000082114;	N	MedGen:CN035106,OMIM:117550; MedGen:CN169374	5	176638235	176638235	NM_022455.4:c.2835T>C	NP_071900.2:p.Ser945=	NC_000005.9:g.176638235T>C	-	CN169374 not specified; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2859dupT (p.Lys954Terfs)	64324	NSD1	Pathogenic	797045809	RCV000194421;	N	MedGen:CN035106,OMIM:117550	5	176638259	176638259	NM_022455.4:c.2859dupT	NP_071900.2:p.Lys954Terfs	NC_000005.9:g.176638259dupT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2925C>T (p.Ser975=)	64324	NSD1	Uncertain significance	587784090	RCV000146794;	N	MedGen:CN035106,OMIM:117550	5	176638325	176638325	NM_022455.4:c.2925C>T	NP_071900.2:p.Ser975=	NC_000005.9:g.176638325C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2954_2955delCT (p.Ser985Cysfs)	64324	NSD1	Pathogenic	587784092	RCV000146796;	N	MedGen:CN035106,OMIM:117550	5	176638354	176638355	NM_022455.4:c.2954_2955delCT	NP_071900.2:p.Ser985Cysfs	NC_000005.9:g.176638354_176638355delCT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.2956delG (p.Ala986Hisfs)	64324	NSD1	Pathogenic	587784093	RCV000146797;	N	MedGen:CN035106,OMIM:117550	5	176638356	176638356	NM_022455.4:c.2956delG	NP_071900.2:p.Ala986Hisfs	NC_000005.9:g.176638356delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3000C>T (p.Ser1000=)	64324	NSD1	Uncertain significance	150854966	RCV000146798; RCV000153609;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176638400	176638400	NM_022455.4:c.3000C>T	NP_071900.2:p.Ser1000=	NC_000005.9:g.176638400C>T	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3046_3047delGT (p.Val1016Tyrfs)	64324	NSD1	Pathogenic	587784094	RCV000146799;	N	MedGen:CN035106,OMIM:117550	5	176638446	176638447	NM_022455.4:c.3046_3047delGT	NP_071900.2:p.Val1016Tyrfs	NC_000005.9:g.176638446_176638447delGT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter)	64324	NSD1	Pathogenic	587784095	RCV000146800;	N	MedGen:CN035106,OMIM:117550	5	176638467	176638467	NM_022455.4:c.3067C>T	NP_071900.2:p.Arg1023Ter	NC_000005.9:g.176638467C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter)	64324	NSD1	Pathogenic	587784096	RCV000146802;	N	MedGen:CN035106,OMIM:117550	5	176638491	176638491	NM_022455.4:c.3091C>T	NP_071900.2:p.Arg1031Ter	NC_000005.9:g.176638491C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3146dupA (p.Thr1050Aspfs)	64324	NSD1	Pathogenic	797045810	RCV000195258;	N	MedGen:CN035106,OMIM:117550	5	176638546	176638546	NM_022455.4:c.3146dupA	NP_071900.2:p.Thr1050Aspfs	NC_000005.9:g.176638546dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3185_3186delTG (p.Val1062Aspfs)	64324	NSD1	Pathogenic	587784097	RCV000146804;	N	MedGen:CN035106,OMIM:117550	5	176638585	176638586	NM_022455.4:c.3185_3186delTG	NP_071900.2:p.Val1062Aspfs	NC_000005.9:g.176638585_176638586delTG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter)	64324	NSD1	Pathogenic	587784098	RCV000146805;	N	MedGen:CN035106,OMIM:117550	5	176638614	176638614	NM_022455.4:c.3214C>T	NP_071900.2:p.Arg1072Ter	NC_000005.9:g.176638614C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3259_3265delAAAGAGG (p.Lys1087Ilefs)	64324	NSD1	Pathogenic	797045811	RCV000193091;	N	MedGen:CN035106,OMIM:117550	5	176638659	176638665	NM_022455.4:c.3259_3265delAAAGAGG	NP_071900.2:p.Lys1087Ilefs	NC_000005.9:g.176638659_176638665delAAAGAGG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3293delC (p.Thr1098Lysfs)	64324	NSD1	Pathogenic	587784099	RCV000146807;	N	MedGen:CN035106,OMIM:117550	5	176638693	176638693	NM_022455.4:c.3293delC	NP_071900.2:p.Thr1098Lysfs	NC_000005.9:g.176638693delC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3295delA (p.Ser1099Valfs)	64324	NSD1	Pathogenic	587784100	RCV000146808;	N	MedGen:CN035106,OMIM:117550	5	176638695	176638695	NM_022455.4:c.3295delA	NP_071900.2:p.Ser1099Valfs	NC_000005.9:g.176638695delA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3316dupT (p.Ser1106Phefs)	64324	NSD1	Pathogenic	797045812	RCV000194330;	N	MedGen:CN035106,OMIM:117550	5	176638716	176638716	NM_022455.4:c.3316dupT	NP_071900.2:p.Ser1106Phefs	NC_000005.9:g.176638716dupT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3383_3384delCT (p.Ser1128Phefs)	64324	NSD1	Pathogenic	587784101	RCV000146809;	N	MedGen:CN035106,OMIM:117550	5	176638783	176638784	NM_022455.4:c.3383_3384delCT	NP_071900.2:p.Ser1128Phefs	NC_000005.9:g.176638783_176638784delCT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=)	64324	NSD1	Uncertain significance	150296373	RCV000146810; RCV000082120;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176638793	176638793	NM_022455.4:c.3393C>T	NP_071900.2:p.Asn1131=	NC_000005.9:g.176638793C>T	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3549dupT (p.Glu1184Terfs)	64324	NSD1	Pathogenic	797045813	RCV000192567;	N	MedGen:CN035106,OMIM:117550	5	176638949	176638949	NM_022455.4:c.3549dupT	NP_071900.2:p.Glu1184Terfs	NC_000005.9:g.176638949dupT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3578_3582delGTGAC (p.Ser1193Thrfs)	64324	NSD1	Pathogenic	587784103	RCV000146814;	N	MedGen:CN035106,OMIM:117550	5	176638978	176638982	NM_022455.4:c.3578_3582delGTGAC	NP_071900.2:p.Ser1193Thrfs	NC_000005.9:g.176638978_176638982delGTGAC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3578dupG (p.Ser1193Argfs)	64324	NSD1	Pathogenic	797045814	RCV000193789;	N	MedGen:CN035106,OMIM:117550	5	176638978	176638978	NM_022455.4:c.3578dupG	NP_071900.2:p.Ser1193Argfs	NC_000005.9:g.176638978dupG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3659_3660delAG (p.Glu1220Alafs)	64324	NSD1	Pathogenic	587784104	RCV000146815;	N	MedGen:CN035106,OMIM:117550	5	176639059	176639060	NM_022455.4:c.3659_3660delAG	NP_071900.2:p.Glu1220Alafs	NC_000005.9:g.176639059_176639060delAG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)	64324	NSD1	Pathogenic	587784105	RCV000146818;	N	MedGen:CN035106,OMIM:117550	5	176662864	176662864	NM_022455.4:c.3839G>A	NP_071900.2:p.Trp1280Ter	NC_000005.9:g.176662864G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3939dupA (p.Glu1314Argfs)	64324	NSD1	Pathogenic	797045815	RCV000194250;	N	MedGen:CN035106,OMIM:117550	5	176665255	176665255	NM_022455.4:c.3939dupA	NP_071900.2:p.Glu1314Argfs	NC_000005.9:g.176665255dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter)	64324	NSD1	Pathogenic	121908070	RCV000004359;	N	MedGen:CN035106,OMIM:117550	5	176665274	176665274	NM_022455.4:c.3958C>T	NP_071900.2:p.Arg1320Ter	NC_000005.9:g.176665274C>T	OMIM Allelic Variant:606681.0010	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter)	64324	NSD1	Pathogenic	587784107	RCV000146821;	N	MedGen:CN035106,OMIM:117550	5	176665280	176665280	NM_022455.4:c.3964C>T	NP_071900.2:p.Arg1322Ter	NC_000005.9:g.176665280C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.3992A>G (p.Asp1331Gly)	64324	NSD1	Uncertain significance	587784108	RCV000146822;	N	MedGen:CN035106,OMIM:117550	5	176665308	176665308	NM_022455.4:c.3992A>G	NP_071900.2:p.Asp1331Gly	NC_000005.9:g.176665308A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4020delA (p.Glu1341Serfs)	64324	NSD1	Pathogenic	797045816	RCV000192468;	N	MedGen:CN035106,OMIM:117550	5	176665336	176665336	NM_022455.4:c.4020delA	NP_071900.2:p.Glu1341Serfs	NC_000005.9:g.176665336delA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4057G>T (p.Glu1353Ter)	64324	NSD1	Pathogenic	587784109	RCV000146823;	N	MedGen:CN035106,OMIM:117550	5	176665373	176665373	NM_022455.4:c.4057G>T	NP_071900.2:p.Glu1353Ter	NC_000005.9:g.176665373G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4076C>G (p.Ser1359Ter)	64324	NSD1	Pathogenic	587784110	RCV000146825;	N	MedGen:CN035106,OMIM:117550	5	176665392	176665392	NM_022455.4:c.4076C>G	NP_071900.2:p.Ser1359Ter	NC_000005.9:g.176665392C>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4192+2T>G	64324	NSD1	Pathogenic	587784111	RCV000146826;	N	MedGen:CN035106,OMIM:117550	5	176665510	176665510	NM_022455.4:c.4192+2T>G		NC_000005.9:g.176665510T>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4217_4220delGAAA (p.Arg1406Asnfs)	64324	NSD1	Pathogenic	794727930	RCV000180364;	N	MedGen:CN035106,OMIM:117550	5	176666781	176666784	NM_022455.4:c.4217_4220delGAAA	NP_071900.2:p.Arg1406Asnfs	NC_000005.9:g.176666781_176666784delGAAA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4282dupG (p.Asp1428Glyfs)	64324	NSD1	Pathogenic	797045817	RCV000193716;	N	MedGen:CN035106,OMIM:117550	5	176666846	176666846	NM_022455.4:c.4282dupG	NP_071900.2:p.Asp1428Glyfs	NC_000005.9:g.176666846dupG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4301delA (p.Lys1434Serfs)	64324	NSD1	Pathogenic	587784112	RCV000146827;	N	MedGen:CN035106,OMIM:117550	5	176666865	176666865	NM_022455.4:c.4301delA	NP_071900.2:p.Lys1434Serfs	NC_000005.9:g.176666865delA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4301dupA (p.Cys1435Valfs)	64324	NSD1	Pathogenic	797045818	RCV000194568;	N	MedGen:CN035106,OMIM:117550	5	176666865	176666865	NM_022455.4:c.4301dupA	NP_071900.2:p.Cys1435Valfs	NC_000005.9:g.176666865dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4328A>G (p.Asn1443Ser)	64324	NSD1	Uncertain significance	141911573	RCV000146828;	N	MedGen:CN035106,OMIM:117550	5	176671221	176671221	NM_022455.4:c.4328A>G	NP_071900.2:p.Asn1443Ser	NC_000005.9:g.176671221A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4363A>G (p.Lys1455Glu)	64324	NSD1	Uncertain significance	587784113	RCV000146829;	N	MedGen:CN035106,OMIM:117550	5	176671256	176671256	NM_022455.4:c.4363A>G	NP_071900.2:p.Lys1455Glu	NC_000005.9:g.176671256A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4376delG (p.Gly1459Glufs)	64324	NSD1	Pathogenic	587784114	RCV000146830;	N	MedGen:CN035106,OMIM:117550	5	176671269	176671269	NM_022455.4:c.4376delG	NP_071900.2:p.Gly1459Glufs	NC_000005.9:g.176671269delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4378+1G>A	64324	NSD1	Pathogenic	587784115	RCV000146831;	N	MedGen:CN035106,OMIM:117550	5	176671272	176671272	NM_022455.4:c.4378+1G>A		NC_000005.9:g.176671272G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4378+7A>G	64324	NSD1	Uncertain significance	587784116	RCV000146832;	N	MedGen:CN035106,OMIM:117550	5	176671278	176671278	NM_022455.4:c.4378+7A>G		NC_000005.9:g.176671278A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter)	64324	NSD1	Pathogenic	570278338	RCV000146833;	N	MedGen:CN035106,OMIM:117550	5	176673711	176673711	NM_022455.4:c.4411C>T	NP_071900.2:p.Arg1471Ter	NC_000005.9:g.176673711C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter)	64324	NSD1	Pathogenic	587784117	RCV000146834;	N	MedGen:CN035106,OMIM:117550	5	176673717	176673717	NM_022455.4:c.4417C>T	NP_071900.2:p.Arg1473Ter	NC_000005.9:g.176673717C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4444C>T (p.Gln1482Ter)	64324	NSD1	Pathogenic	587784118	RCV000146835;	N	MedGen:CN035106,OMIM:117550	5	176673744	176673744	NM_022455.4:c.4444C>T	NP_071900.2:p.Gln1482Ter	NC_000005.9:g.176673744C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=)	64324	NSD1	Uncertain significance	150920473	RCV000146836; RCV000082123;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176673773	176673773	NM_022455.4:c.4473G>T	NP_071900.2:p.Ser1491=	NC_000005.9:g.176673773G>T	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4479_4488dupAGAGATTCCA (p.Gly1497Argfs)	64324	NSD1	Pathogenic	797045819	RCV000192768;	N	MedGen:CN035106,OMIM:117550	5	176673779	176673788	NM_022455.4:c.4479_4488dupAGAGATTCCA	NP_071900.2:p.Gly1497Argfs	NC_000005.9:g.176673779_176673788dupAGAGATTCCA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4493C>G (p.Ser1498Ter)	64324	NSD1	Pathogenic	587784119	RCV000146837;	N	MedGen:CN035106,OMIM:117550	5	176673793	176673793	NM_022455.4:c.4493C>G	NP_071900.2:p.Ser1498Ter	NC_000005.9:g.176673793C>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4498-3A>G	64324	NSD1	Pathogenic	587784120	RCV000146838;	N	MedGen:CN035106,OMIM:117550	5	176675179	176675179	NM_022455.4:c.4498-3A>G		NC_000005.9:g.176675179A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4529delG (p.Ser1510Thrfs)	64324	NSD1	Pathogenic	587784121	RCV000146840;	N	MedGen:CN035106,OMIM:117550	5	176675213	176675213	NM_022455.4:c.4529delG	NP_071900.2:p.Ser1510Thrfs	NC_000005.9:g.176675213delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr)	64324	NSD1	Uncertain significance	201483724	RCV000146842;	N	MedGen:CN035106,OMIM:117550	5	176675248	176675248	NM_022455.4:c.4564G>T	NP_071900.2:p.Asp1522Tyr	NC_000005.9:g.176675248G>A,NC_000005.9:g.176675248G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4681C>T (p.Gln1561Ter)	64324	NSD1	Pathogenic	587784122	RCV000146844;	N	MedGen:CN035106,OMIM:117550	5	176678770	176678770	NM_022455.4:c.4681C>T	NP_071900.2:p.Gln1561Ter	NC_000005.9:g.176678770C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4705delG (p.Glu1569Serfs)	64324	NSD1	Pathogenic	587784123	RCV000146845;	N	MedGen:CN035106,OMIM:117550	5	176678794	176678794	NM_022455.4:c.4705delG	NP_071900.2:p.Glu1569Serfs	NC_000005.9:g.176678794delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4731_4732delAA (p.Gly1579Lysfs)	64324	NSD1	Pathogenic	587784124	RCV000146846;	N	MedGen:CN035106,OMIM:117550	5	176678820	176678821	NM_022455.4:c.4731_4732delAA	NP_071900.2:p.Gly1579Lysfs	NC_000005.9:g.176678820_176678821delAA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4732dupA (p.Arg1578Lysfs)	64324	NSD1	Pathogenic	797045820	RCV000194867;	N	MedGen:CN035106,OMIM:117550	5	176678821	176678821	NM_022455.4:c.4732dupA	NP_071900.2:p.Arg1578Lysfs	NC_000005.9:g.176678821dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4745delT (p.Ile1582Thrfs)	64324	NSD1	Pathogenic	587784125	RCV000146847;	N	MedGen:CN035106,OMIM:117550	5	176678834	176678834	NM_022455.4:c.4745delT	NP_071900.2:p.Ile1582Thrfs	NC_000005.9:g.176678834delT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4753G>T (p.Glu1585Ter)	64324	NSD1	Pathogenic	587784126	RCV000146848;	N	MedGen:CN035106,OMIM:117550	5	176678842	176678842	NM_022455.4:c.4753G>T	NP_071900.2:p.Glu1585Ter	NC_000005.9:g.176678842G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr)	64324	NSD1	Likely pathogenic	587784127	RCV000146849;	N	MedGen:CN035106,OMIM:117550	5	176684003	176684003	NM_022455.4:c.4817G>A	NP_071900.2:p.Cys1606Tyr	NC_000005.9:g.176684003G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4844A>C (p.Tyr1615Ser)	64324	NSD1	Likely pathogenic	398124378	RCV000146850;	N	MedGen:CN035106,OMIM:117550	5	176684030	176684030	NM_022455.4:c.4844A>C	NP_071900.2:p.Tyr1615Ser	NC_000005.9:g.176684030A>C,NC_000005.9:g.176684030A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4855T>A (p.Cys1619Ser)	64324	NSD1	Pathogenic	587784128	RCV000146851;	N	MedGen:CN035106,OMIM:117550	5	176684041	176684041	NM_022455.4:c.4855T>A	NP_071900.2:p.Cys1619Ser	NC_000005.9:g.176684041T>A,NC_000005.9:g.176684041T>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4855T>G (p.Cys1619Gly)	64324	NSD1	Pathogenic	587784128	RCV000146852;	N	MedGen:CN035106,OMIM:117550	5	176684041	176684041	NM_022455.4:c.4855T>G	NP_071900.2:p.Cys1619Gly	NC_000005.9:g.176684041T>A,NC_000005.9:g.176684041T>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4882_4883insAA (p.Met1628Lysfs)	64324	NSD1	Pathogenic	797045821	RCV000192716;	N	MedGen:CN035106,OMIM:117550	5	176684068	176684069	NM_022455.4:c.4882_4883insAA	NP_071900.2:p.Met1628Lysfs	NC_000005.9:g.176684068_176684069insAA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg)	64324	NSD1	Likely pathogenic;Uncertain significance	201857437	RCV000146854; RCV000082126;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176684078	176684078	NM_022455.4:c.4892A>G	NP_071900.2:p.Lys1631Arg	NC_000005.9:g.176684078A>G	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4907C>T (p.Ser1636Phe)	64324	NSD1	Pathogenic	587784129	RCV000146855;	N	MedGen:CN035106,OMIM:117550	5	176684093	176684093	NM_022455.4:c.4907C>T	NP_071900.2:p.Ser1636Phe	NC_000005.9:g.176684093C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4966G>T (p.Gly1656Cys)	64324	NSD1	Pathogenic	587784132	RCV000146858;	N	MedGen:CN035106,OMIM:117550	5	176684152	176684152	NM_022455.4:c.4966G>T	NP_071900.2:p.Gly1656Cys	NC_000005.9:g.176684152G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4966+1G>A	64324	NSD1	Pathogenic	587784131	RCV000146857;	N	MedGen:CN035106,OMIM:117550	5	176684153	176684153	NM_022455.4:c.4966+1G>A		NC_000005.9:g.176684153G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4966+15T>C	64324	NSD1	Uncertain significance	587784130	RCV000146856;	N	MedGen:CN035106,OMIM:117550	5	176684167	176684167	NM_022455.4:c.4966+15T>C		NC_000005.9:g.176684167T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4967-2A>T	64324	NSD1	Pathogenic	587784133	RCV000146859;	N	MedGen:CN035106,OMIM:117550	5	176686988	176686988	NM_022455.4:c.4967-2A>T		NC_000005.9:g.176686988A>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.4987C>T (p.Arg1663Cys)	64324	NSD1	Pathogenic	587784134	RCV000146860;	N	MedGen:CN035106,OMIM:117550	5	176687010	176687010	NM_022455.4:c.4987C>T	NP_071900.2:p.Arg1663Cys	NC_000005.9:g.176687010C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5021G>A (p.Cys1674Tyr)	64324	NSD1	Likely pathogenic	587784135	RCV000146861;	N	MedGen:CN035106,OMIM:117550	5	176687044	176687044	NM_022455.4:c.5021G>A	NP_071900.2:p.Cys1674Tyr	NC_000005.9:g.176687044G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5098C>T (p.Arg1700Ter)	64324	NSD1	Pathogenic	587784137	RCV000146863;	N	MedGen:CN035106,OMIM:117550	5	176687121	176687121	NM_022455.4:c.5098C>T	NP_071900.2:p.Arg1700Ter	NC_000005.9:g.176687121C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5141C>G (p.Ser1714Ter)	64324	NSD1	Pathogenic	587784138	RCV000146864;	N	MedGen:CN035106,OMIM:117550	5	176687164	176687164	NM_022455.4:c.5141C>G	NP_071900.2:p.Ser1714Ter	NC_000005.9:g.176687164C>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5146+1G>A	64324	NSD1	Pathogenic	587784139	RCV000146865;	N	MedGen:CN035106,OMIM:117550	5	176687170	176687170	NM_022455.4:c.5146+1G>A		NC_000005.9:g.176687170G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5198G>A (p.Cys1733Tyr)	64324	NSD1	Likely pathogenic	587784140	RCV000146866;	N	MedGen:CN035106,OMIM:117550	5	176694614	176694614	NM_022455.4:c.5198G>A	NP_071900.2:p.Cys1733Tyr	NC_000005.9:g.176694614G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5279_5282delTCTG (p.Val1760Glyfs)	64324	NSD1	Pathogenic	398124379	RCV000146867; RCV000082127;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176694695	176694698	NM_022455.4:c.5279_5282delTCTG	NP_071900.2:p.Val1760Glyfs	NC_000005.9:g.176694695_176694698delTCTG	HGMD:CD052484	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5303+1G>C	64324	NSD1	Pathogenic	587784141	RCV000146868;	N	MedGen:CN035106,OMIM:117550	5	176694720	176694720	NM_022455.4:c.5303+1G>C		NC_000005.9:g.176694720G>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5304-1G>C	64324	NSD1	Likely pathogenic	863224905	RCV000196945;	N	MedGen:CN035106,OMIM:117550	5	176696602	176696602	NM_022455.4:c.5304-1G>C		NC_000005.9:g.176696602G>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5309G>A (p.Trp1770Ter)	64324	NSD1	Pathogenic	587784142	RCV000146869;	N	MedGen:CN035106,OMIM:117550	5	176696608	176696608	NM_022455.4:c.5309G>A	NP_071900.2:p.Trp1770Ter	NC_000005.9:g.176696608G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter)	64324	NSD1	Pathogenic	794727176	RCV000175098;	N	MedGen:CN035106,OMIM:117550	5	176696631	176696631	NM_022455.4:c.5332C>T	NP_071900.2:p.Arg1778Ter	NC_000005.9:g.176696631C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5375G>A (p.Gly1792Glu)	64324	NSD1	Pathogenic	587784143	RCV000146870;	N	MedGen:CN035106,OMIM:117550	5	176696674	176696674	NM_022455.4:c.5375G>A	NP_071900.2:p.Gly1792Glu	NC_000005.9:g.176696674G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5390T>C (p.Leu1797Pro)	64324	NSD1	Likely pathogenic	587784144	RCV000146871;	N	MedGen:CN035106,OMIM:117550	5	176696689	176696689	NM_022455.4:c.5390T>C	NP_071900.2:p.Leu1797Pro	NC_000005.9:g.176696689T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5392_5398delTTTTTTG (p.Phe1798Aspfs)	64324	NSD1	Pathogenic	587784145	RCV000146872;	N	MedGen:CN035106,OMIM:117550	5	176696691	176696697	NM_022455.4:c.5392_5398delTTTTTTG	NP_071900.2:p.Phe1798Aspfs	NC_000005.9:g.176696691_176696697delTTTTTTG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5407_5410dupGACT (p.Tyr1804Terfs)	64324	NSD1	Pathogenic	797045823	RCV000195162;	N	MedGen:CN035106,OMIM:117550	5	176696706	176696709	NM_022455.4:c.5407_5410dupGACT	NP_071900.2:p.Tyr1804Terfs	NC_000005.9:g.176696706_176696709dupGACT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5408_5411delACTAins9	64324	NSD1	Pathogenic	797045822	RCV000193927;	N	MedGen:CN035106,OMIM:117550	5	176696707	176696710	NM_022455.4:c.5408_5411delACTAins9			-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5419A>C (p.Thr1807Pro)	64324	NSD1	Likely pathogenic	587784146	RCV000146873;	N	MedGen:CN035106,OMIM:117550	5	176696718	176696718	NM_022455.4:c.5419A>C	NP_071900.2:p.Thr1807Pro	NC_000005.9:g.176696718A>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5425C>T (p.Gln1809Ter)	64324	NSD1	Pathogenic	587784147	RCV000146874;	N	MedGen:CN035106,OMIM:117550	5	176696724	176696724	NM_022455.4:c.5425C>T	NP_071900.2:p.Gln1809Ter	NC_000005.9:g.176696724C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter)	64324	NSD1	Pathogenic	587784148	RCV000146875;	N	MedGen:CN035106,OMIM:117550	5	176696730	176696730	NM_022455.4:c.5431C>T	NP_071900.2:p.Arg1811Ter	NC_000005.9:g.176696730C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5432G>A (p.Arg1811Gln)	64324	NSD1	Pathogenic	587784149	RCV000146876;	N	MedGen:CN035106,OMIM:117550	5	176696731	176696731	NM_022455.4:c.5432G>A	NP_071900.2:p.Arg1811Gln	NC_000005.9:g.176696731G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5471A>G (p.Asp1824Gly)	64324	NSD1	Likely pathogenic	587784150	RCV000146877;	N	MedGen:CN035106,OMIM:117550	5	176696770	176696770	NM_022455.4:c.5471A>G	NP_071900.2:p.Asp1824Gly	NC_000005.9:g.176696770A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5520A>G (p.Glu1840=)	64324	NSD1	Uncertain significance	140815139	RCV000146878; RCV000082128;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176700683	176700683	NM_022455.4:c.5520A>G	NP_071900.2:p.Glu1840=	NC_000005.9:g.176700683A>G	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5566C>T (p.Gln1856Ter)	64324	NSD1	Pathogenic	587784151	RCV000146879;	N	MedGen:CN035106,OMIM:117550	5	176700729	176700729	NM_022455.4:c.5566C>T	NP_071900.2:p.Gln1856Ter	NC_000005.9:g.176700729C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5618_5619delTA (p.Ile1873Lysfs)	64324	NSD1	Pathogenic	587784152	RCV000146880;	N	MedGen:CN035106,OMIM:117550	5	176700781	176700782	NM_022455.4:c.5618_5619delTA	NP_071900.2:p.Ile1873Lysfs	NC_000005.9:g.176700781_176700782delTA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5712delC (p.Cys1905Valfs)	64324	NSD1	Pathogenic	587784153	RCV000146881;	N	MedGen:CN035106,OMIM:117550	5	176707655	176707655	NM_022455.4:c.5712delC	NP_071900.2:p.Cys1905Valfs	NC_000005.9:g.176707655delC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5740C>T (p.Arg1914Cys)	64324	NSD1	Pathogenic	587784154	RCV000146882;	N	MedGen:CN035106,OMIM:117550	5	176707683	176707683	NM_022455.4:c.5740C>T	NP_071900.2:p.Arg1914Cys	NC_000005.9:g.176707683C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5741G>C (p.Arg1914Pro)	64324	NSD1	Likely pathogenic	587784155	RCV000146883;	N	MedGen:CN035106,OMIM:117550	5	176707684	176707684	NM_022455.4:c.5741G>C	NP_071900.2:p.Arg1914Pro	NC_000005.9:g.176707684G>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=)	64324	NSD1	Benign;Uncertain significance	61749654	RCV000146884; RCV000082129;	N	MedGen:CN035106,OMIM:117550; MedGen:CN169374	5	176707724	176707724	NM_022455.4:c.5781C>G	NP_071900.2:p.Ala1927=	NC_000005.9:g.176707724C>G	-	CN169374 not specified; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5790dupC (p.Cys1931Leufs)	64324	NSD1	Pathogenic	797045824	RCV000193011;	N	MedGen:CN035106,OMIM:117550	5	176707733	176707733	NM_022455.4:c.5790dupC	NP_071900.2:p.Cys1931Leufs	NC_000005.9:g.176707733dupC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5798A>G (p.Asn1933Ser)	64324	NSD1	Likely pathogenic	587784156	RCV000146885;	N	MedGen:CN035106,OMIM:117550	5	176707741	176707741	NM_022455.4:c.5798A>G	NP_071900.2:p.Asn1933Ser	NC_000005.9:g.176707741A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5800C>T (p.Gln1934Ter)	64324	NSD1	Pathogenic	587784157	RCV000146886;	N	MedGen:CN035106,OMIM:117550	5	176707743	176707743	NM_022455.4:c.5800C>T	NP_071900.2:p.Gln1934Ter	NC_000005.9:g.176707743C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5805C>A (p.Cys1935Ter)	64324	NSD1	Pathogenic	587784158	RCV000146887;	N	MedGen:CN035106,OMIM:117550	5	176707748	176707748	NM_022455.4:c.5805C>A	NP_071900.2:p.Cys1935Ter	NC_000005.9:g.176707748C>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5809T>C (p.Ser1937Pro)	64324	NSD1	Uncertain significance	587784159	RCV000146888;	N	MedGen:CN035106,OMIM:117550	5	176707752	176707752	NM_022455.4:c.5809T>C	NP_071900.2:p.Ser1937Pro	NC_000005.9:g.176707752T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5862G>C (p.Trp1954Cys)	64324	NSD1	Pathogenic	587784160	RCV000146889;	N	MedGen:CN035106,OMIM:117550	5	176707805	176707805	NM_022455.4:c.5862G>C	NP_071900.2:p.Trp1954Cys	NC_000005.9:g.176707805G>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr)	64324	NSD1	Pathogenic	587784162	RCV000146891;	N	MedGen:CN035106,OMIM:117550	5	176707828	176707828	NM_022455.4:c.5885T>C	NP_071900.2:p.Ile1962Thr	NC_000005.9:g.176707828T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5893-2A>G	64324	NSD1	Pathogenic	587784163	RCV000146892;	N	MedGen:CN035106,OMIM:117550	5	176709464	176709464	NM_022455.4:c.5893-2A>G		NC_000005.9:g.176709464A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5903delT (p.Val1968Glyfs)	64324	NSD1	Pathogenic	587784164	RCV000146893;	N	MedGen:CN035106,OMIM:117550	5	176709476	176709476	NM_022455.4:c.5903delT	NP_071900.2:p.Val1968Glyfs	NC_000005.9:g.176709476delT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5911delT (p.Tyr1971Metfs)	64324	NSD1	Pathogenic	587784165	RCV000146894;	N	MedGen:CN035106,OMIM:117550	5	176709484	176709484	NM_022455.4:c.5911delT	NP_071900.2:p.Tyr1971Metfs	NC_000005.9:g.176709484delT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5918G>T (p.Gly1973Val)	64324	NSD1	Likely pathogenic	587784166	RCV000146895;	N	MedGen:CN035106,OMIM:117550	5	176709491	176709491	NM_022455.4:c.5918G>T	NP_071900.2:p.Gly1973Val	NC_000005.9:g.176709491G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5927T>A (p.Ile1976Lys)	64324	NSD1	Likely pathogenic	587784167	RCV000146896;	N	MedGen:CN035106,OMIM:117550	5	176709500	176709500	NM_022455.4:c.5927T>A	NP_071900.2:p.Ile1976Lys	NC_000005.9:g.176709500T>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5938G>T (p.Glu1980Ter)	64324	NSD1	Pathogenic	587784168	RCV000146897;	N	MedGen:CN035106,OMIM:117550	5	176709511	176709511	NM_022455.4:c.5938G>T	NP_071900.2:p.Glu1980Ter	NC_000005.9:g.176709511G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5950C>T (p.Arg1984Ter)	64324	NSD1	Pathogenic	797045057	RCV000191111;	N	MedGen:CN035106,OMIM:117550	5	176709523	176709523	NM_022455.4:c.5950C>T	NP_071900.2:p.Arg1984Ter	NC_000005.9:g.176709523C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln)	64324	NSD1	Pathogenic	587784169	RCV000146898;	N	MedGen:CN035106,OMIM:117550	5	176709524	176709524	NM_022455.4:c.5951G>A	NP_071900.2:p.Arg1984Gln	NC_000005.9:g.176709524G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter)	64324	NSD1	Pathogenic	587784170	RCV000146899;	N	MedGen:CN035106,OMIM:117550	5	176709538	176709538	NM_022455.4:c.5965C>T	NP_071900.2:p.Gln1989Ter	NC_000005.9:g.176709538C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5989T>C (p.Tyr1997His)	64324	NSD1	Pathogenic	587784171	RCV000146900;	N	MedGen:CN035106,OMIM:117550	5	176709562	176709562	NM_022455.4:c.5989T>C	NP_071900.2:p.Tyr1997His	NC_000005.9:g.176709562T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.5990A>G (p.Tyr1997Cys)	64324	NSD1	Pathogenic	797045825	RCV000193844;	N	MedGen:CN035106,OMIM:117550	5	176709563	176709563	NM_022455.4:c.5990A>G	NP_071900.2:p.Tyr1997Cys	NC_000005.9:g.176709563A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=)	64324	NSD1	Uncertain significance	587784172	RCV000146901;	N	MedGen:CN035106,OMIM:117550	5	176709574	176709574	NM_022455.4:c.6001C>T	NP_071900.2:p.Leu2001=	NC_000005.9:g.176709574C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter)	64324	NSD1	Pathogenic	587784173	RCV000146902;	N	MedGen:CN035106,OMIM:117550	5	176710791	176710791	NM_022455.4:c.6013C>T	NP_071900.2:p.Arg2005Ter	NC_000005.9:g.176710791C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln)	64324	NSD1	Pathogenic	587784174	RCV000146903;	N	MedGen:CN035106,OMIM:117550	5	176710792	176710792	NM_022455.4:c.6014G>A	NP_071900.2:p.Arg2005Gln	NC_000005.9:g.176710792G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6043T>C (p.Tyr2015His)	64324	NSD1	Likely pathogenic	587784175	RCV000146904;	N	MedGen:CN035106,OMIM:117550	5	176710821	176710821	NM_022455.4:c.6043T>C	NP_071900.2:p.Tyr2015His	NC_000005.9:g.176710821T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp)	64324	NSD1	Pathogenic	587784176	RCV000146905;	N	MedGen:CN035106,OMIM:117550	5	176710827	176710827	NM_022455.4:c.6049C>T	NP_071900.2:p.Arg2017Trp	NC_000005.9:g.176710827C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)	64324	NSD1	Pathogenic	587784177	RCV000146906;	N	MedGen:CN035106,OMIM:117550	5	176710828	176710828	NM_022455.4:c.6050G>A	NP_071900.2:p.Arg2017Gln	NC_000005.9:g.176710828G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6059A>G (p.Asn2020Ser)	64324	NSD1	Pathogenic	587784178	RCV000146907;	N	MedGen:CN035106,OMIM:117550	5	176710837	176710837	NM_022455.4:c.6059A>G	NP_071900.2:p.Asn2020Ser	NC_000005.9:g.176710837A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6070C>T (p.Gln2024Ter)	64324	NSD1	Pathogenic	587784179	RCV000146908;	N	MedGen:CN035106,OMIM:117550	5	176710848	176710848	NM_022455.4:c.6070C>T	NP_071900.2:p.Gln2024Ter	NC_000005.9:g.176710848C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6080G>C (p.Cys2027Ser)	64324	NSD1	Likely pathogenic	587784180	RCV000146909;	N	MedGen:CN035106,OMIM:117550	5	176710858	176710858	NM_022455.4:c.6080G>C	NP_071900.2:p.Cys2027Ser	NC_000005.9:g.176710858G>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile)	64324	NSD1	Likely pathogenic	587784181	RCV000146910;	N	MedGen:CN035106,OMIM:117550	5	176710864	176710864	NM_022455.4:c.6086C>T	NP_071900.2:p.Thr2029Ile	NC_000005.9:g.176710864C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6094_6095dupTG (p.Trp2032Cysfs)	64324	NSD1	Pathogenic	797045826	RCV000195064;	N	MedGen:CN035106,OMIM:117550	5	176710872	176710873	NM_022455.4:c.6094_6095dupTG	NP_071900.2:p.Trp2032Cysfs	NC_000005.9:g.176710872_176710873dupTG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6112dupA (p.Thr2038Asnfs)	64324	NSD1	Pathogenic	797045827	RCV000193313;	N	MedGen:CN035106,OMIM:117550	5	176710890	176710890	NM_022455.4:c.6112dupA	NP_071900.2:p.Thr2038Asnfs	NC_000005.9:g.176710890dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6152-14G>A	64324	NSD1	Uncertain significance	587784182	RCV000146911; RCV000153612;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176715806	176715806	NM_022455.4:c.6152-14G>A		NC_000005.9:g.176715806G>A	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6157G>T (p.Glu2053Ter)	64324	NSD1	Pathogenic	587784183	RCV000146912;	N	MedGen:CN035106,OMIM:117550	5	176715825	176715825	NM_022455.4:c.6157G>T	NP_071900.2:p.Glu2053Ter	NC_000005.9:g.176715825G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6165delC (p.Phe2056Serfs)	64324	NSD1	Pathogenic	587784184	RCV000146913;	N	MedGen:CN035106,OMIM:117550	5	176715833	176715833	NM_022455.4:c.6165delC	NP_071900.2:p.Phe2056Serfs	NC_000005.9:g.176715833delC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6218dupG (p.Ala2074Serfs)	64324	NSD1	Pathogenic	797045828	RCV000194543;	N	MedGen:CN035106,OMIM:117550	5	176715886	176715886	NM_022455.4:c.6218dupG	NP_071900.2:p.Ala2074Serfs	NC_000005.9:g.176715886dupG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6258+1G>A	64324	NSD1	Pathogenic	587784185	RCV000146914;	N	MedGen:CN035106,OMIM:117550	5	176715927	176715927	NM_022455.4:c.6258+1G>A		NC_000005.9:g.176715927G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6259-8A>T	64324	NSD1	Uncertain significance	370529039	RCV000146915;	N	MedGen:CN035106,OMIM:117550	5	176718947	176718947	NM_022455.4:c.6259-8A>T		NC_000005.9:g.176718947A>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6290dupA (p.Lys2098Glufs)	64324	NSD1	Pathogenic	797045829	RCV000194991;	N	MedGen:CN035106,OMIM:117550	5	176718986	176718986	NM_022455.4:c.6290dupA	NP_071900.2:p.Lys2098Glufs	NC_000005.9:g.176718986dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6291delG (p.Lys2098Asnfs)	64324	NSD1	Pathogenic	587784186	RCV000146916;	N	MedGen:CN035106,OMIM:117550	5	176718987	176718987	NM_022455.4:c.6291delG	NP_071900.2:p.Lys2098Asnfs	NC_000005.9:g.176718987delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6307C>T (p.Gln2103Ter)	64324	NSD1	Pathogenic	587784187	RCV000146917;	N	MedGen:CN035106,OMIM:117550	5	176719003	176719003	NM_022455.4:c.6307C>T	NP_071900.2:p.Gln2103Ter	NC_000005.9:g.176719003C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6307_6308insTGTGC (p.Gln2103Leufs)	64324	NSD1	Pathogenic	797045830	RCV000193221;	N	MedGen:CN035106,OMIM:117550	5	176719003	176719004	NM_022455.4:c.6307_6308insTGTGC	NP_071900.2:p.Gln2103Leufs	NC_000005.9:g.176719003_176719004insTGTGC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6310C>T (p.Gln2104Ter)	64324	NSD1	Pathogenic	587784188	RCV000146918;	N	MedGen:CN035106,OMIM:117550	5	176719006	176719006	NM_022455.4:c.6310C>T	NP_071900.2:p.Gln2104Ter	NC_000005.9:g.176719006C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6311_6312delAG (p.Gln2104Argfs)	64324	NSD1	Pathogenic	587784189	RCV000146919;	N	MedGen:CN035106,OMIM:117550	5	176719007	176719008	NM_022455.4:c.6311_6312delAG	NP_071900.2:p.Gln2104Argfs	NC_000005.9:g.176719007_176719008delAG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6344dupA (p.Glu2116Glyfs)	64324	NSD1	Pathogenic	797045831	RCV000194467;	N	MedGen:CN035106,OMIM:117550	5	176719040	176719040	NM_022455.4:c.6344dupA	NP_071900.2:p.Glu2116Glyfs	NC_000005.9:g.176719040dupA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter)	64324	NSD1	Pathogenic	587784190	RCV000146920;	N	MedGen:CN035106,OMIM:117550	5	176719045	176719045	NM_022455.4:c.6349C>T	NP_071900.2:p.Arg2117Ter	NC_000005.9:g.176719045C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly)	64324	NSD1	Pathogenic	587784191	RCV000146921;	N	MedGen:CN035106,OMIM:117550	5	176719052	176719052	NM_022455.4:c.6356A>G	NP_071900.2:p.Asp2119Gly	NC_000005.9:g.176719052A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6366delT (p.Phe2122Leufs)	64324	NSD1	Pathogenic	587784192	RCV000146922;	N	MedGen:CN035106,OMIM:117550	5	176719062	176719062	NM_022455.4:c.6366delT	NP_071900.2:p.Phe2122Leufs	NC_000005.9:g.176719062delT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6377A>T (p.Asp2126Val)	64324	NSD1	Pathogenic	587784193	RCV000146923;	N	MedGen:CN035106,OMIM:117550	5	176719073	176719073	NM_022455.4:c.6377A>T	NP_071900.2:p.Asp2126Val	NC_000005.9:g.176719073A>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6413G>A (p.Cys2138Tyr)	64324	NSD1	Likely pathogenic	587784195	RCV000146925;	N	MedGen:CN035106,OMIM:117550	5	176719109	176719109	NM_022455.4:c.6413G>A	NP_071900.2:p.Cys2138Tyr	NC_000005.9:g.176719109G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6418A>G (p.Lys2140Glu)	64324	NSD1	Likely pathogenic	587784196	RCV000146926;	N	MedGen:CN035106,OMIM:117550	5	176719114	176719114	NM_022455.4:c.6418A>G	NP_071900.2:p.Lys2140Glu	NC_000005.9:g.176719114A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6421delG (p.Val2141Phefs)	64324	NSD1	Pathogenic	587784197	RCV000146927;	N	MedGen:CN035106,OMIM:117550	5	176719117	176719117	NM_022455.4:c.6421delG	NP_071900.2:p.Val2141Phefs	NC_000005.9:g.176719117delG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6429C>G (p.His2143Gln)	64324	NSD1	Pathogenic	121908068	RCV000004355;	N	MedGen:CN035106,OMIM:117550	5	176719125	176719125	NM_022455.4:c.6429C>G	NP_071900.2:p.His2143Gln	NC_000005.9:g.176719125C>G	OMIM Allelic Variant:606681.0006	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6431delC (p.Ala2144Glufs)	64324	NSD1	Pathogenic	587784198	RCV000146928;	N	MedGen:CN035106,OMIM:117550	5	176719127	176719127	NM_022455.4:c.6431delC	NP_071900.2:p.Ala2144Glufs	NC_000005.9:g.176719127delC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6450dupC (p.Lys2151Glnfs)	64324	NSD1	Pathogenic	864309639	RCV000004357;	N	MedGen:CN035106,OMIM:117550	5	176719146	176719146	NM_022455.4:c.6450dupC	NP_071900.2:p.Lys2151Glnfs	NC_000005.9:g.176719146dupC	OMIM Allelic Variant:606681.0008	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter)	64324	NSD1	Pathogenic	587784199	RCV000146930;	N	MedGen:CN035106,OMIM:117550	5	176719150	176719150	NM_022455.4:c.6454C>T	NP_071900.2:p.Arg2152Ter	NC_000005.9:g.176719150C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6455G>A (p.Arg2152Gln)	64324	NSD1	Pathogenic	587784200	RCV000146931;	N	MedGen:CN035106,OMIM:117550	5	176719151	176719151	NM_022455.4:c.6455G>A	NP_071900.2:p.Arg2152Gln	NC_000005.9:g.176719151G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6459_6463+5del	64324	NSD1	Pathogenic	797045832	RCV000192321;	N	MedGen:CN035106,OMIM:117550	5	176719155	176719164	NM_022455.4:c.6459_6463+5del		NC_000005.9:g.176719155_176719164delAGCAGGTTGG	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6463+1G>A	64324	NSD1	Pathogenic	398124381	RCV000176326; RCV000082132;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176719160	176719160	NM_022455.4:c.6463+1G>A		NC_000005.9:g.176719160G>A	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6472G>T (p.Glu2158Ter)	64324	NSD1	Pathogenic	587784201	RCV000146932;	N	MedGen:CN035106,OMIM:117550	5	176720841	176720841	NM_022455.4:c.6472G>T	NP_071900.2:p.Glu2158Ter	NC_000005.9:g.176720841G>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6476G>A (p.Cys2159Tyr)	64324	NSD1	Pathogenic	587784202	RCV000146933;	N	MedGen:CN035106,OMIM:117550	5	176720845	176720845	NM_022455.4:c.6476G>A	NP_071900.2:p.Cys2159Tyr	NC_000005.9:g.176720845G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6485A>C (p.His2162Pro)	64324	NSD1	Likely pathogenic	587784204	RCV000146935;	N	MedGen:CN035106,OMIM:117550	5	176720854	176720854	NM_022455.4:c.6485A>C	NP_071900.2:p.His2162Pro	NC_000005.9:g.176720854A>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr)	64324	NSD1	Likely pathogenic	587784205	RCV000146936;	N	MedGen:CN035106,OMIM:117550	5	176720869	176720869	NM_022455.4:c.6500G>A	NP_071900.2:p.Cys2167Tyr	NC_000005.9:g.176720869G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6521_6523delTCT (p.Phe2174del)	64324	NSD1	Pathogenic	587784206	RCV000146937;	N	MedGen:CN035106,OMIM:117550	5	176720890	176720892	NM_022455.4:c.6521_6523delTCT	NP_071900.2:p.Phe2174del	NC_000005.9:g.176720890_176720892delTCT	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6538_6539insC (p.Ser2180Thrfs)	64324	NSD1	Pathogenic	398124383	RCV000176424; RCV000082134;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176720907	176720908	NM_022455.4:c.6538_6539insC	NP_071900.2:p.Ser2180Thrfs	NC_000005.9:g.176720907_176720908insC	-	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6539_6557del19 (p.Ser2180Ilefs)	64324	NSD1	Pathogenic	587784207	RCV000146938;	N	MedGen:CN035106,OMIM:117550	5	176720908	176720926	NM_022455.4:c.6539_6557del19	NP_071900.2:p.Ser2180Ilefs	NC_000005.9:g.176720908_176720926del19	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6541_6543dupTCC (p.Ser2181_Phe2182insSer)	64324	NSD1	Likely pathogenic	797045833	RCV000193506;	N	MedGen:CN035106,OMIM:117550	5	176720910	176720912	NM_022455.4:c.6541_6543dupTCC	NP_071900.2:p.Ser2181_Phe2182insSer	NC_000005.9:g.176720910_176720912dupTCC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6548G>C (p.Cys2183Ser)	64324	NSD1	Pathogenic	121908069	RCV000004356;	N	MedGen:CN035106,OMIM:117550	5	176720917	176720917	NM_022455.4:c.6548G>C	NP_071900.2:p.Cys2183Ser	NC_000005.9:g.176720917G>C	OMIM Allelic Variant:606681.0007	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6557A>G (p.His2186Arg)	64324	NSD1	Likely pathogenic	587784208	RCV000146939;	N	MedGen:CN035106,OMIM:117550	5	176720926	176720926	NM_022455.4:c.6557A>G	NP_071900.2:p.His2186Arg	NC_000005.9:g.176720926A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6559C>T (p.Arg2187Ter)	64324	NSD1	Pathogenic	587784209	RCV000146940;	N	MedGen:CN035106,OMIM:117550	5	176720928	176720928	NM_022455.4:c.6559C>T	NP_071900.2:p.Arg2187Ter	NC_000005.9:g.176720928C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6604T>A (p.Cys2202Ser)	64324	NSD1	Pathogenic	587784210	RCV000146941;	N	MedGen:CN035106,OMIM:117550	5	176720973	176720973	NM_022455.4:c.6604T>A	NP_071900.2:p.Cys2202Ser	NC_000005.9:g.176720973T>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr)	64324	NSD1	Pathogenic	121908071	RCV000004362;	N	MedGen:CN035106,OMIM:117550	5	176720974	176720974	NM_022455.4:c.6605G>A	NP_071900.2:p.Cys2202Tyr	NC_000005.9:g.176720974G>A	OMIM Allelic Variant:606681.0013	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6630_6644delCAATCCTCTGGAACC (p.Asn2211_Pro2215del)	64324	NSD1	Likely pathogenic	587784211	RCV000146942;	N	MedGen:CN035106,OMIM:117550	5	176720999	176721013	NM_022455.4:c.6630_6644delCAATCCTCTGGAACC	NP_071900.2:p.Asn2211_Pro2215del	NC_000005.9:g.176720999_176721013delCAATCCTCTGGAACC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6637C>G (p.Leu2213Val)	64324	NSD1	Uncertain significance	587784212	RCV000146943;	N	MedGen:CN035106,OMIM:117550	5	176721006	176721006	NM_022455.4:c.6637C>G	NP_071900.2:p.Leu2213Val	NC_000005.9:g.176721006C>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6640G>A (p.Glu2214Lys)	64324	NSD1	Uncertain significance	587784213	RCV000146944;	N	MedGen:CN035106,OMIM:117550	5	176721009	176721009	NM_022455.4:c.6640G>A	NP_071900.2:p.Glu2214Lys	NC_000005.9:g.176721009G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6656G>A (p.Arg2219His)	64324	NSD1	Pathogenic	587784214	RCV000146945;	N	MedGen:CN035106,OMIM:117550	5	176721025	176721025	NM_022455.4:c.6656G>A	NP_071900.2:p.Arg2219His	NC_000005.9:g.176721025G>A	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.6753A>G (p.Ser2251=)	64324	NSD1	Uncertain significance	587784215	RCV000146946;	N	MedGen:CN035106,OMIM:117550	5	176721122	176721122	NM_022455.4:c.6753A>G	NP_071900.2:p.Ser2251=	NC_000005.9:g.176721122A>G	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser)	64324	NSD1	Uncertain significance	373932824	RCV000146950; RCV000082142;	N	MedGen:CN035106,OMIM:117550; MedGen:CN221809	5	176721945	176721945	NM_022455.4:c.7576C>T	NP_071900.2:p.Pro2526Ser	NC_000005.9:g.176721945C>T	HGMD:CM043043	CN221809 not provided; CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.7783A>T (p.Lys2595Ter)	64324	NSD1	Pathogenic	797045834	RCV000194370;	N	MedGen:CN035106,OMIM:117550	5	176722152	176722152	NM_022455.4:c.7783A>T	NP_071900.2:p.Lys2595Ter	NC_000005.9:g.176722152A>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.7923T>C (p.Ala2641=)	64324	NSD1	Uncertain significance	147033795	RCV000146955;	N	MedGen:CN035106,OMIM:117550	5	176722292	176722292	NM_022455.4:c.7923T>C	NP_071900.2:p.Ala2641=	NC_000005.9:g.176722292T>C	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.7939_7940delCA (p.Gln2647Valfs)	64324	NSD1	Pathogenic	587784219	RCV000146956;	N	MedGen:CN035106,OMIM:117550	5	176722308	176722309	NM_022455.4:c.7939_7940delCA	NP_071900.2:p.Gln2647Valfs	NC_000005.9:g.176722308_176722309delCA	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.7966C>T (p.Gln2656Ter)	64324	NSD1	Pathogenic	797045058	RCV000191112;	N	MedGen:CN035106,OMIM:117550	5	176722335	176722335	NM_022455.4:c.7966C>T	NP_071900.2:p.Gln2656Ter	NC_000005.9:g.176722335C>T	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.8036delC (p.Pro2679Glnfs)	64324	NSD1	Pathogenic	587784220	RCV000146957;	N	MedGen:CN035106,OMIM:117550	5	176722405	176722405	NM_022455.4:c.8036delC	NP_071900.2:p.Pro2679Glnfs	NC_000005.9:g.176722405delC	-	CN035106 117550 Sotos syndrome 1
NM_022455.4(NSD1):c.8043delT (p.Asn2682Thrfs)	64324	NSD1	Pathogenic	587784221	RCV000146958;	N	MedGen:CN035106,OMIM:117550	5	176722412	176722412	NM_022455.4:c.8043delT	NP_071900.2:p.Asn2682Thrfs	NC_000005.9:g.176722412delT	-	CN035106 117550 Sotos syndrome 1