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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: congenital nervous system disorder (MONDO:0002320)
Parent Node: malformation syndrome with short stature (MONDO:0015329)
Parent Node: multiple congenital anomalies/dysmorphic syndrome-intellectual disability (MONDO:0015159)
Parent Node: syndromic intellectual disability (MONDO:0000508)
..Starting node ..floating-Harbor syndrome ()
Child Nodes:
Sister Nodes:
..acrocallosal syndrome ()
..acrofacial dysostosis Rodriguez type ()
..acrofacial dysostosis, Catania type ()
..agnathia-otocephaly complex ()
..alopecia - contractures - dwarfism - intellectual disability syndrome ()
..alopecia - intellectual disability syndrome ()
..alopecia-epilepsy-pyorrhea-intellectual disability syndrome ()
..alpha thalassemia-intellectual disability syndrome type 1 ()
..Angelman syndrome ()
..aniridia-cerebellar ataxia-intellectual disability syndrome ()
..aniridia-renal agenesis-psychomotor retardation syndrome ()
..aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ()
..atelosteogenesis type III ()
..Bannayan-Riley-Ruvalcaba syndrome ()
..Biemond syndrome type 2 ()
..blepharonasofacial malformation syndrome ()
..Bowen-Conradi syndrome ()
..Branchioskeletogenital syndrome ()
..c syndrome ()
..cardiocranial syndrome, Pfeiffer type ()
..cataract-hypertrichosis-intellectual disability syndrome ()
..cataract-intellectual disability-hypogonadism syndrome ()
..cataract-nephropathy-encephalopathy syndrome ()
..cerebrofaciothoracic dysplasia ()
..Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ()
..Cohen syndrome ()
..cortical blindness-intellectual disability-polydactyly syndrome ()
..Costello syndrome ()
..Crane-Heise syndrome ()
..Czeizel-Losonci syndrome ()
..delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ()
..down syndrome ()
..Dubowitz syndrome ()
..facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ()
..floating-Harbor syndrome ()
..GMS syndrome ()
..hepatic fibrosis-renal cysts-intellectual disability syndrome ()
..hirsutism-skeletal dysplasia-intellectual disability syndrome ()
..holoprosencephaly-radial heart renal anomalies syndrome ()
..infantile choroidocerebral calcification syndrome ()
..isolated anencephaly/exencephaly ()
..Johnson neuroectodermal syndrome ()
..KBG syndrome ()
..Lenz-Majewski hyperostotic dwarfism ()
..microcephaly-deafness-intellectual disability syndrome ()
..Moynahan syndrome ()
..Myhre syndrome ()
..omphalocele syndrome, Shprintzen-Goldberg type ()
..ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ()
..orofaciodigital syndrome V ()
..orofaciodigital syndrome X ()
..polymicrogyria ()
..prolidase deficiency ()
..pseudoprogeria syndrome ()
..Ramos-Arroyo syndrome ()
..Shprintzen-Goldberg syndrome ()
..Smith-Magenis syndrome ()
..spastic paraplegia-epilepsy-intellectual disability syndrome ()
..spastic paraplegia-nephritis-deafness syndrome ()
..Stimmler syndrome ()
..temtamy syndrome ()
..trichorhinophalangeal syndrome type II ()
..uveal coloboma-cleft lip and palate-intellectual disability ()
..Williams syndrome ()
..Wolf-Hirschhorn syndrome ()
..Zimmermann-Laband syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7621

Name:

floating-Harbor syndrome

Definition:

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Alternative IDs:

136140

ParentIDs:

TreeNumbers:

Synonyms:

FHS; FLHS; floating-Harbor syndrome; floating-HARBOR syndrome; FLHS; Pelletier-Leisti syndrome; short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 136140;
MSeqDR :
Genes: SRCAP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001631	Atrial septal defect	HP:0040283
3	HP:0002608	Celiac disease
4	HP:0004209	Clinodactyly of the 5th finger
5	HP:0001680	Coarctation of aorta	HP:0040283
6	HP:0100543	Cognitive impairment NAMDC: Cognitive delay	HP:0040283
7	HP:0000405	Conductive hearing impairment	HP:0040283
8	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
9	HP:0010957	Congenital posterior urethral valve	HP:0040283
10	HP:0000028	Cryptorchidism	HP:0040283
11	HP:0000490	Deeply set eye
12	HP:0002750	Delayed skeletal maturation
13	HP:0002714	Downturned corners of mouth
14	HP:0030424	Epididymal cyst	HP:0040283
15	HP:0002474	Expressive language delay
16	HP:0001007	Hirsutism
17	HP:0000126	Hydronephrosis	HP:0040283
18	HP:0000540	Hypermetropia	HP:0040283
19	HP:0000047	Hypospadias	HP:0040283
20	HP:0000023	Inguinal hernia	HP:0040283
21	HP:0001388	Joint laxity
22	HP:0000527	Long eyelashes
23	HP:0002162	Low posterior hairline
24	HP:0011599	Mesocardia	HP:0040283
25	HP:0000121	Nephrocalcinosis	HP:0040283
26	HP:0005301	Persistent left superior vena cava	HP:0040283
27	HP:0000358	Posteriorly rotated ears
28	HP:0000448	Prominent nose
29	HP:0000403	Recurrent otitis media	HP:0040283
30	HP:0000470	Short neck
31	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
32	HP:0000319	Smooth philtrum
33	HP:0000486	Strabismus	HP:0040283
34	HP:0000233	Thin vermilion border
35	HP:0000325	Triangular face
36	HP:0001537	Umbilical hernia	HP:0040283
37	HP:0012871	Varicocele	HP:0040283
38	HP:0000154	Wide mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	10847	SRCAP	Pathogenic/Likely pathogenic	1555465891	RCV000657907\|RCV001775944;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30747922	30747922	16:g.30747922C>T	OMIM:611421.0006	CN517202 not provided;
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)	10847	SRCAP	Pathogenic/Likely pathogenic	199469465	RCV000023896\|RCV000299481\|RCV001265998;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	30748664	30748664	16:g.30748664C>T	ClinGen:CA342763,OMIM:611421.0002	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)	10847	SRCAP	Pathogenic/Likely pathogenic	587784444	RCV000147668;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749354	30749354	NC_000016.9:g.30749354C>T	ClinGen:CA272646	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter)	10847	SRCAP	Pathogenic	587777656	RCV000133554;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30747937	30747937	NC_000016.9:g.30747937C>T	ClinGen:CA270632,OMIM:611421.0005	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)	10847	SRCAP	Pathogenic	2053169420	RCV001293700;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748550	30748550	30748550	-
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)	10847	SRCAP	Pathogenic	-1	RCV003447670;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748574	30748575		-
NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs)	10847	SRCAP	Pathogenic	2151300039	RCV001776310;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748578	30748579	30748578	OMIM:611421.0007
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)	10847	SRCAP	Pathogenic	-1	RCV001270394\|RCV003235529;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:CN517202	16	30748580	30748580	16:g.30748580C>T	-
NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter)	10847	SRCAP	Pathogenic	758972811	RCV000850607;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748648	30748648	16:g.30748648C>A	-
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	10847	SRCAP	Pathogenic	199469464	RCV000023895\|RCV000255081\|RCV000623916\|RCV001420319\|RCV002273937\|RCV003407357;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738\|	16	30748691	30748691	16:g.30748691C>T	ClinGen:CA342761,OMIM:611421.0001	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs)	10847	SRCAP	Pathogenic	199469466	RCV000023897;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748908	30748908	NC_000016.9:g.30748910del	ClinGen:CA259943,OMIM:611421.0003	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs)	10847	SRCAP	Pathogenic	587776938	RCV000033112;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749223	30749224	NC_000016.9:g.30749224dup	ClinGen:CA261237,OMIM:611421.0004	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)	10847	SRCAP	Pathogenic	2151300418	RCV002204553;	N	MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749225	30749225	30749225	-
NM_006662.3(SRCAP):c.7236_7237del (p.Pro2413fs)	10847	SRCAP	Likely pathogenic	-1	RCV003152891;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748596	30748597		-
NM_006662.3(SRCAP):c.7364del (p.Pro2455fs)	10847	SRCAP	Likely pathogenic	-1	RCV002790010;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748724	30748724	NC_000016.9:g.30748725del	-
NM_006662.3(SRCAP):c.7937_7938del (p.Val2646fs)	10847	SRCAP	Likely pathogenic	-1	RCV002465438;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749292	30749293	NC_000016.9:g.30749292TG[3]	-
NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter)	10847	SRCAP	Likely pathogenic	143133981	RCV002464465;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750590	30750590	30750590	-
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)	10847	SRCAP	Conflicting interpretations of pathogenicity	183497403	RCV000178280\|RCV002478591\|RCV003298224;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MeSH:D030342,MedGen:C0950123	16	30715392	30715392	16:g.30715392C>T	ClinGen:CA245327	CN169374 not specified;
NM_006662.3(SRCAP):c.189C>A (p.Pro63=)	10847	SRCAP	Likely benign	79656879	RCV000919896\|RCV002502794;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30715519	30715519	16:g.30715519C>A	-
NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser)	10847	SRCAP	Uncertain significance	2052801296	RCV001331606;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30715526	30715526	30715526	-
NM_006662.3(SRCAP):c.278A>G (p.His93Arg)	10847	SRCAP	Uncertain significance	555507140	RCV001923822\|RCV002484560;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30715608	30715608	30715608	-
NM_006662.3(SRCAP):c.306+4C>T	10847	SRCAP	Benign	58723456	RCV000947694\|RCV002502241;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30715640	30715640	16:g.30715640C>T	ClinGen:CA8010631	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.307-7T>C	10847	SRCAP	Benign/Likely benign	201397245	RCV000964351\|RCV002495004;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30718497	30718497	16:g.30718497T>C	ClinGen:CA8010652	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.316A>G (p.Ile106Val)	10847	SRCAP	Uncertain significance	777066101	RCV001335454;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30718513	30718513	30718513	-
NM_006662.3(SRCAP):c.492+3A>G	10847	SRCAP	Uncertain significance	766539368	RCV001946518\|RCV002492022;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30718692	30718692	30718692	-
NM_006662.3(SRCAP):c.492+11C>T	10847	SRCAP	Benign/Likely benign	192794742	RCV002122807\|RCV002486891;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30718700	30718700	30718700	-
NM_006662.3(SRCAP):c.492+12G>A	10847	SRCAP	Likely benign	200528955	RCV002155857\|RCV002500335;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30718701	30718701	30718701	-
NM_006662.3(SRCAP):c.493-20C>T	10847	SRCAP	Benign	72793372	RCV000243573\|RCV001668523\|RCV001808705\|RCV001808704;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30718873	30718873	NC_000016.9:g.30718873C>T	ClinGen:CA8010697	CN169374 not specified;
NM_006662.3(SRCAP):c.633+9T>C	10847	SRCAP	Benign/Likely benign	150267250	RCV000923486\|RCV002488001;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30719042	30719042	16:g.30719042T>C	-
NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser)	10847	SRCAP	Uncertain significance	2052869442	RCV001331610;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30721269	30721269	30721269	-
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly)	10847	SRCAP	Uncertain significance	778737366	RCV001291699\|RCV001871737;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:CN517202	16	30721388	30721388	30721388	-
NM_006662.3(SRCAP):c.1134+6G>C	10847	SRCAP	Likely benign	143387966	RCV000903450\|RCV002505315;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30721455	30721455	16:g.30721455G>C	-
NM_006662.3(SRCAP):c.1135-14C>T	10847	SRCAP	Benign/Likely benign	534965827	RCV002108135\|RCV002486887;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30722061	30722061	30722061	-
NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val)	10847	SRCAP	Uncertain significance	781392583	RCV000734294\|RCV002485937;	N	MedGen:CN517202\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30722160	30722160	NC_000016.9:g.30722160A>T	-
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=)	10847	SRCAP	Benign/Likely benign	780939002	RCV000978457\|RCV002489437;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30722369	30722369	16:g.30722369G>A	-
NM_006662.3(SRCAP):c.1279G>A (p.Val427Met)	10847	SRCAP	Uncertain significance	140083344	RCV001814794\|RCV002489861;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30722370	30722370	30722370	-
NM_006662.3(SRCAP):c.1350G>A (p.Gln450=)	10847	SRCAP	Likely benign	146916680	RCV001171910\|RCV002497604;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30722923	30722923	16:g.30722923G>A	-
NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser)	10847	SRCAP	Uncertain significance	1596647170	RCV001331605;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30723002	30723002	30723002	-
NM_006662.3(SRCAP):c.1493-8C>A	10847	SRCAP	Benign/Likely benign	184337406	RCV000881960\|RCV002495348;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30723148	30723148	16:g.30723148C>A	-
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)	10847	SRCAP	Conflicting interpretations of pathogenicity	771334638	RCV001872521\|RCV002506902\|RCV002548715;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MeSH:D030342,MedGen:C0950123	16	30723274	30723274	30723274	-
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=)	10847	SRCAP	Likely benign	374756213	RCV002120306\|RCV002494265;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30723277	30723277	30723277	-
NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn)	10847	SRCAP	Uncertain significance	2151288555	RCV002273233;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30723356	30723356	30723356	-
NM_006662.3(SRCAP):c.1878A>G (p.Leu626=)	10847	SRCAP	Likely benign	1596647814	RCV000905942\|RCV002487974;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30723645	30723645	16:g.30723645A>G	-
NM_006662.3(SRCAP):c.2064G>T (p.Arg688=)	10847	SRCAP	Benign	4889500	RCV001807808\|RCV001807809\|RCV002074220;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MedGen:C3661900	16	30724070	30724070	30724070	-
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp)	10847	SRCAP	Uncertain significance	760183638	RCV001335453\|RCV002476553\|RCV003223723;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:CN517202	16	30724131	30724131	30724131	-
NM_006662.3(SRCAP):c.2130+6A>T	10847	SRCAP	Uncertain significance	894326862	RCV002001709\|RCV002497976;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30724142	30724142	30724142	-
NM_006662.3(SRCAP):c.2300+10dup	10847	SRCAP	Conflicting interpretations of pathogenicity	557150142	RCV000331218\|RCV000904266;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:CN517202	16	30724706	30724707	16:g.30724706_30724707insG	ClinGen:CA8011173	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=)	10847	SRCAP	Benign/Likely benign	368981651	RCV002129772\|RCV002486892;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30724867	30724867	30724867	-
NM_006662.3(SRCAP):c.2402G>A (p.Arg801His)	10847	SRCAP	Uncertain significance	1368368027	RCV001866999\|RCV002478121;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30724941	30724941	30724941	-
NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=)	10847	SRCAP	Likely benign	769009513	RCV000950809\|RCV002502923;	N	MedGen:CN517202\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30727452	30727452	16:g.30727452C>T	-
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)	10847	SRCAP	Conflicting interpretations of pathogenicity	139524110	RCV001968001\|RCV002479535\|RCV002562800;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MeSH:D030342,MedGen:C0950123	16	30727631	30727631	30727631	-
NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile)	10847	SRCAP	Uncertain significance	748447295	RCV000304500\|RCV002479999;	N	MedGen:CN517202\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30727634	30727634	16:g.30727634C>T	ClinGen:CA8011277	CN169374 not specified;
NM_006662.3(SRCAP):c.2655C>A (p.Gly885=)	10847	SRCAP	Likely benign	144028938	RCV002127136\|RCV002500001;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30727638	30727638	30727638	-
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro)	10847	SRCAP	Likely benign	756223991	RCV000989593;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30727735	30727735	16:g.30727735A>C	-
NM_006662.3(SRCAP):c.2816A>G (p.Gln939Arg)	10847	SRCAP	Uncertain significance	1025929747	RCV002244163;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30727799	30727799	30727799	-
NM_006662.3(SRCAP):c.2883C>T (p.Asp961=)	10847	SRCAP	Likely benign	141067629	RCV002040018\|RCV002503374;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30731548	30731548	30731548	-
NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln)	10847	SRCAP	Uncertain significance	186883352	RCV001915297\|RCV002490183;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30731562	30731562	30731562	-
NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp)	10847	SRCAP	Uncertain significance	2052998876	RCV001996051\|RCV002486608;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30731621	30731621	30731621	-
NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu)	10847	SRCAP	Uncertain significance	982570410	RCV001992911\|RCV002492107;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30732071	30732071	30732071	-
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)	10847	SRCAP	Conflicting interpretations of pathogenicity	767714019	RCV002050625\|RCV002482413\|RCV002543493;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MeSH:D030342,MedGen:C0950123	16	30732096	30732096	30732096	-
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro)	10847	SRCAP	Benign/Likely benign	202000509	RCV000597323\|RCV000950810\|RCV002495005;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732143	30732143	NC_000016.9:g.30732143T>C	ClinGen:CA8011406	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=)	10847	SRCAP	Likely benign	765152833	RCV000247243\|RCV002058212\|RCV002487131;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30732214	30732214	NC_000016.9:g.30732214C>T	ClinGen:CA8011420	CN169374 not specified;
NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg)	10847	SRCAP	Uncertain significance	2053005047	RCV001785203;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732225	30732225	30732225	-
NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=)	10847	SRCAP	Likely benign	1312053021	RCV002113459\|RCV002494249;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732229	30732229	30732229	-
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)	10847	SRCAP	Conflicting interpretations of pathogenicity	200083101	RCV001864293\|RCV003164102\|RCV002482494;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732510	30732510	30732510	-
NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn)	10847	SRCAP	Uncertain significance	1423358122	RCV001262243;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732543	30732543	16:g.30732543C>A	-
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp)	10847	SRCAP	Benign/Likely benign	556230791	RCV000736101\|RCV002493372;	N	MedGen:CN169374\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732548	30732548	NC_000016.9:g.30732548C>T	-
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)	10847	SRCAP	Benign/Likely benign	149248373	RCV000252805\|RCV000285807\|RCV000425969;	N	MedGen:CN169374\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30732558	30732558	NC_000016.9:g.30732558C>A	ClinGen:CA8011463	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr)	10847	SRCAP	Uncertain significance	374725943	RCV001940707\|RCV002507576\|RCV003167224;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MeSH:D030342,MedGen:C0950123	16	30732737	30732737	30732737	-
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=)	10847	SRCAP	Benign/Likely benign	147309641	RCV000901674\|RCV002495454;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732769	30732769	16:g.30732769A>G	-
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=)	10847	SRCAP	Likely benign	368322185	RCV002096617\|RCV002486877;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30732775	30732775	30732775	-
NM_006662.3(SRCAP):c.3542-5T>C	10847	SRCAP	Likely benign	141077295	RCV002208838\|RCV002498197;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30733438	30733438	30733438	-
NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His)	10847	SRCAP	Uncertain significance	754130604	RCV002503536\|RCV001922840;	N	MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30733488	30733488	30733488	-
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)	10847	SRCAP	Benign/Likely benign	201583296	RCV000943436\|RCV002488021;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30733577	30733577	16:g.30733577C>G	-
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=)	10847	SRCAP	Benign/Likely benign	34734612	RCV000969674\|RCV002487405\|RCV003151025;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:CN169374	16	30733600	30733600	NC_000016.9:g.30733600G>A	ClinGen:CA8011540	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe)	10847	SRCAP	Uncertain significance	202233790	RCV001335455;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30733898	30733898	30733898	-
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly)	10847	SRCAP	Benign/Likely benign	372507463	RCV002141476\|RCV002494303;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30734479	30734479	30734479	-
NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser)	10847	SRCAP	Uncertain significance	751529827	RCV001331607;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30734496	30734496	30734496	-
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)	10847	SRCAP	Uncertain significance	777744269	RCV000734861\|RCV002499383;	N	MedGen:CN517202\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30734511	30734511	NC_000016.9:g.30734511C>T	-
NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=)	10847	SRCAP	Likely benign	769774517	RCV000932598\|RCV002504088;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30734915	30734915	NC_000016.9:g.30734915C>T	ClinGen:CA8011696	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=)	10847	SRCAP	Benign	4889502	RCV000176569\|RCV001808452\|RCV001808451\|RCV002054079;	N	MedGen:CN169374\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30734963	30734963	16:g.30734963C>A	ClinGen:CA202007	CN169374 not specified;
NM_006662.3(SRCAP):c.4243dup (p.Met1415fs)	10847	SRCAP	Uncertain significance	2151293947	RCV001843890;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30734986	30734987	30734986	-
NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu)	10847	SRCAP	Uncertain significance	140379834	RCV002025940\|RCV002486652;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30734988	30734988	30734988	-
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)	10847	SRCAP	Benign/Likely benign	79597785	RCV000147664\|RCV002055936\|RCV002498675;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30735038	30735038	16:g.30735038C>G	ClinGen:CA173603	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)	10847	SRCAP	Conflicting interpretations of pathogenicity	200175704	RCV000176568\|RCV002485145\|RCV002516709;	N	MedGen:CN517202\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MeSH:D030342,MedGen:C0950123	16	30735100	30735100	16:g.30735100C>T	ClinGen:CA242554	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser)	10847	SRCAP	Uncertain significance	780593546	RCV001903294\|RCV002490172;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30735216	30735216	30735216	-
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs)	10847	SRCAP	Uncertain significance	1567248015	RCV000681654\|RCV001391078\|RCV001775950;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30735300	30735303	16:g.30735300_30735303del	OMIM:611421.0009	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)	10847	SRCAP	Conflicting interpretations of pathogenicity	181190579	RCV001880370\|RCV002489969\|RCV002545842;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MeSH:D030342,MedGen:C0950123	16	30735333	30735333	30735333	-
NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=)	10847	SRCAP	Benign/Likely benign	114204931	RCV000882871\|RCV002479000;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30735341	30735341	16:g.30735341A>C	-
NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=)	10847	SRCAP	Likely benign	146141702	RCV000897905\|RCV002502634;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30735425	30735425	16:g.30735425G>A	-
NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser)	10847	SRCAP	Uncertain significance	143556666	RCV001867245\|RCV002503389;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30735468	30735468	30735468	-
NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=)	10847	SRCAP	Likely benign	377094082	RCV000896913\|RCV002502626;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30735617	30735617	16:g.30735617A>G	-
NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu)	10847	SRCAP	Uncertain significance	1402428342	RCV002017125\|RCV002498010;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30735895	30735895	30735895	-
NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu)	10847	SRCAP	Uncertain significance	757626317	RCV001933056\|RCV002491883;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30735961	30735961	30735961	-
NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala)	10847	SRCAP	Uncertain significance	767130314	RCV001591705\|RCV002569126;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30736027	30736027	30736027	-
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=)	10847	SRCAP	Benign/Likely benign	773168431	RCV002179346\|RCV002494037;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30736067	30736067	30736067	-
NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=)	10847	SRCAP	Likely benign	1028599771	RCV002103911\|RCV002499964;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30736085	30736085	30736085	-
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=)	10847	SRCAP	Benign/Likely benign	140196853	RCV000906065\|RCV002502242;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30736148	30736148	NC_000016.9:g.30736148C>T	ClinGen:CA8011963	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr)	10847	SRCAP	Uncertain significance	978664247	RCV001956754\|RCV002484826;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30736149	30736149	30736149	-
NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met)	10847	SRCAP	Uncertain significance	-1	RCV003148375;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30736215	30736215		-
NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu)	10847	SRCAP	Uncertain significance	374858506	RCV002017183\|RCV002492318\|RCV002642128;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MeSH:D030342,MedGen:C0950123	16	30736222	30736222	30736222	-
NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=)	10847	SRCAP	Likely benign	754115748	RCV000904289\|RCV002495470;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30736223	30736223	16:g.30736223G>C	-
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)	10847	SRCAP	Conflicting interpretations of pathogenicity	531238169	RCV001981698\|RCV002497831\|RCV003355692;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MeSH:D030342,MedGen:C0950123	16	30736263	30736263	30736263	-
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del)	10847	SRCAP	Benign/Likely benign	565950672	RCV000391069\|RCV000952746;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30736343	30736345	NC_000016.9:g.30736343_30736345del	ClinGen:CA8012016	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)	10847	SRCAP	Uncertain significance	375163006	RCV001839196\|RCV002542827;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30736357	30736357	30736357	-
NM_006662.3(SRCAP):c.5658+15C>T	10847	SRCAP	Likely benign	775744605	RCV002190804\|RCV002496100;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30736418	30736418	30736418	-
NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys)	10847	SRCAP	Uncertain significance	1019525148	RCV001196117;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30740332	30740332	16:g.30740332G>A	-
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)	10847	SRCAP	Benign/Likely benign	117480926	RCV000251457\|RCV000312738\|RCV000960290;	N	MedGen:CN169374\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900	16	30740333	30740333	NC_000016.9:g.30740333A>G	ClinGen:CA8012069	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp)	10847	SRCAP	Uncertain significance	74015039	RCV001985207\|RCV002484749;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30740335	30740335	30740335	-
NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg)	10847	SRCAP	Uncertain significance	2053089774	RCV001331609;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30740441	30740441	30740441	-
NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle)	10847	SRCAP	Uncertain significance	767382265	RCV001894539\|RCV002490037;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30740477	30740478	30740477	-
NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln)	10847	SRCAP	Uncertain significance	754274438	RCV002017277\|RCV002498011;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30740816	30740816	30740816	-
NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp)	10847	SRCAP	Uncertain significance	371915992	RCV002047457\|RCV002489943;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30744630	30744630	30744630	-
NM_006662.3(SRCAP):c.6495-5C>G	10847	SRCAP	Benign/Likely benign	189024516	RCV002191055\|RCV002505856;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30745210	30745210	30745210	-
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=)	10847	SRCAP	Likely benign	202092944	RCV000888140\|RCV002501441;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30745221	30745221	16:g.30745221C>T	-
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met)	10847	SRCAP	Benign/Likely benign	201837401	RCV002211670\|RCV002498206;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30745871	30745871	30745871	-
NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro)	10847	SRCAP	Uncertain significance	-1	RCV002291521;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30745917	30745917	30745917	-
NM_006662.3(SRCAP):c.6729+9dup	10847	SRCAP	Uncertain significance	770423372	RCV000490494;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30745938	30745939	16:g.30745938_30745939insA	ClinGen:CA8012311	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn)	10847	SRCAP	Benign/Likely benign	142242633	RCV000915066\|RCV002487406;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748482	30748482	NC_000016.9:g.30748482C>A	ClinGen:CA8012420	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu)	10847	SRCAP	Uncertain significance	759342420	RCV001870850\|RCV002482567;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748713	30748713	30748713	-
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu)	10847	SRCAP	Uncertain significance	2053173193	RCV001260450\|RCV002504378;	N	MedGen:CN169374\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30748881	30748881	16:g.30748881C>T	-
NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=)	10847	SRCAP	Likely benign	777936953	RCV000938144\|RCV002489254;	N	MedGen:CN517202\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30748897	30748897	16:g.30748897A>C	-
NM_006662.3(SRCAP):c.7681C>G (p.Pro2561Ala)	10847	SRCAP	Uncertain significance	1215921344	RCV000754773;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749042	30749042	NC_000016.9:g.30749042C>G	-
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del)	10847	SRCAP	Uncertain significance	797046007	RCV000193429\|RCV002492882\|RCV002517138;	N	MedGen:CN169374\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MedGen:C3661900	16	30749082	30749084	NC_000016.9:g.30749086_30749088delCTC	ClinGen:CA206916	CN169374 not specified;
NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala)	10847	SRCAP	Uncertain significance	1226947726	RCV001785205;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749105	30749105	30749105	-
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=)	10847	SRCAP	Benign/Likely benign	200333706	RCV002110961\|RCV002507947;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30749138	30749138	30749138	-
NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu)	10847	SRCAP	Likely benign	201670251	RCV002177724\|RCV002553691\|RCV002494061;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749211	30749211	30749211	-
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu)	10847	SRCAP	Likely benign	587784444	RCV001262634;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749354	30749354	16:g.30749354C>G	-
NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu)	10847	SRCAP	Uncertain significance	-1	RCV003148422;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749664	30749664		-
NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=)	10847	SRCAP	Likely benign	150187491	RCV002178736\|RCV002494511;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30749734	30749734	30749734	-
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr)	10847	SRCAP	Likely benign	143103128	RCV002097086\|RCV002493999;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749748	30749748	30749748	-
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)	10847	SRCAP	Uncertain significance	376510159	RCV001844633\|RCV002034730\|RCV002489899;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749766	30749766	30749766	-
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=)	10847	SRCAP	Benign/Likely benign	147473528	RCV002122810\|RCV002500016;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30749767	30749767	30749767	-
NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr)	10847	SRCAP	Uncertain significance	753836409	RCV002018122\|RCV002479768;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749775	30749775	30749775	-
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=)	10847	SRCAP	Benign	140511721	RCV000906816\|RCV002495006;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749815	30749815	16:g.30749815C>T	ClinGen:CA8012697	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg)	10847	SRCAP	Conflicting interpretations of pathogenicity	146421389	RCV000334801\|RCV001850689\|RCV002521008;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	30749861	30749861	16:g.30749861G>A	ClinGen:CA8012713	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=)	10847	SRCAP	Benign/Likely benign	758398423	RCV000896043\|RCV002495421;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30749869	30749869	16:g.30749869T>G	-
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser)	10847	SRCAP	Likely benign	139886717	RCV000968326\|RCV002495007;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30749876	30749876	16:g.30749876G>A	ClinGen:CA8012717	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=)	10847	SRCAP	Likely benign	778040460	RCV002200198\|RCV002486820;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30749896	30749896	30749896	-
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=)	10847	SRCAP	Likely benign	140675498	RCV000916806\|RCV002502243;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750037	30750037	16:g.30750037T>G	ClinGen:CA8012742	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg)	10847	SRCAP	Uncertain significance	770109840	RCV002015272\|RCV002486591;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750054	30750054	30750054	-
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=)	10847	SRCAP	Benign/Likely benign	61746613	RCV000733021\|RCV000911319\|RCV002495008;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750064	30750064	16:g.30750064A>G	ClinGen:CA8012748	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe)	10847	SRCAP	Likely benign	149217909	RCV000147669\|RCV000882474\|RCV002498676\|RCV002515984;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595\|MeSH:D030342,MedGen:C0950123	16	30750116	30750116	16:g.30750116C>T	ClinGen:CA173609	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=)	10847	SRCAP	Benign/Likely benign	199928454	RCV000971158\|RCV002489410;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750121	30750121	16:g.30750121A>G	-
NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu)	10847	SRCAP	Uncertain significance	368577129	RCV002007905\|RCV002492202;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750159	30750159	30750159	-
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=)	10847	SRCAP	Benign/Likely benign	149043190	RCV000733017\|RCV000911320\|RCV002502244;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750226	30750226	16:g.30750226C>G	ClinGen:CA8012778	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp)	10847	SRCAP	Benign/Likely benign	141497857	RCV000879572\|RCV002501364;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750254	30750254	16:g.30750254C>T	-
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=)	10847	SRCAP	Likely benign	368889629	RCV000932510\|RCV002502850;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750319	30750319	16:g.30750319T>C	-
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=)	10847	SRCAP	Benign/Likely benign	150765091	RCV002122146\|RCV002494225;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750343	30750343	30750343	-
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)	10847	SRCAP	Uncertain significance	138111804	RCV001914639\|RCV002482617;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750350	30750350	30750350	-
NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu)	10847	SRCAP	Uncertain significance	1567254950	RCV000785911;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750405	30750405	16:g.30750405C>T	-
NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys)	10847	SRCAP	Uncertain significance	760273993	RCV001976934\|RCV002486547;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750554	30750554	30750554	-
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=)	10847	SRCAP	Benign/Likely benign	143133981	RCV000900790\|RCV002495009;	N	MedGen:C3661900\|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595; MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750590	30750590	NC_000016.9:g.30750590C>A	ClinGen:CA8012868	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.9253A>G (p.Met3085Val)	10847	SRCAP	Likely benign	369935740	RCV000926914\|RCV002495561;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750614	30750614	16:g.30750614A>G	-
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=)	10847	SRCAP	Benign/Likely benign	142948420	RCV000177795\|RCV000887051\|RCV002492778;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750805	30750805	16:g.30750805T>C	ClinGen:CA202631	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.9490G>A (p.Gly3164Arg)	10847	SRCAP	Uncertain significance	-1	RCV003336630;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30750851	30750851		-
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val)	10847	SRCAP	Uncertain significance	530672259	RCV001884920\|RCV002478286;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750858	30750858	30750858	-
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys)	10847	SRCAP	Likely benign	201133838	RCV002196697\|RCV002494071;	N	MedGen:C3661900\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30750923	30750923	30750923	-
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=)	10847	SRCAP	Likely benign	973709922	RCV000928279\|RCV002502832;	N	MedGen:CN517202\|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044; MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	16	30751051	30751051	16:g.30751051G>A	-
NM_006662.3(SRCAP):c.*243C>T	10847	SRCAP	Likely benign	577624873	RCV000400203;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30751297	30751297	NC_000016.9:g.30751297C>T	ClinGen:CA10648275	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.*342del	10847	SRCAP	Uncertain significance	886051909	RCV000288483;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30751396	30751396	NC_000016.9:g.30751396del	ClinGen:CA10643462	C0729582 136140 Floating-Harbor syndrome;
NM_006662.3(SRCAP):c.*358del	10847	SRCAP	Uncertain significance	397854666	RCV000343464;	N	MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140, Orphanet:2044	16	30751397	30751397	NC_000016.9:g.30751412del	ClinGen:CA10637587	C0729582 136140 Floating-Harbor syndrome;

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