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

Disease Browser
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Anus, Imperforate (D001006)
Parent Node: Constipation (D003248)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Muscle Hypotonia (D009123)
..Starting node ..Opitz-Kaveggia syndrome (C537923)
Child Nodes:
Sister Nodes:
..AL-RAQAD SYNDROME (OMIM:616459)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..Allan-Herndon-Dudley syndrome (C537047)
..Atonic-Astatic Syndrome of Foerster (C565926)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Carnitine Acetyltransferase Deficiency (C563249)
..Cohen syndrome (C536438)
..Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097;
..CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..DESANTO-SHINAWI SYNDROME (OMIM:616708)
..Emanuel syndrome (C535733)
..Ethanolaminosis (C562651)
..Fumaric aciduria (C538191)
..German Syndrome (C562543)
..GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Joubert Syndrome 10 (C567582)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Ketoadipicaciduria (C565453)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..Opitz-Kaveggia syndrome (C537923)
..Qazi Markouizos syndrome (C536259)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Scalp ear nipple syndrome (C536623)
..Three M Syndrome 2 (C567862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9131

Name:

Opitz-Kaveggia syndrome

Definition:

Alternative IDs:

DO:DOID:14711|OMIM:300321|OMIM:300406|OMIM:300422|OMIM:305450

ParentIDs:

MESH:D001006|MESH:D003248|MESH:D009123|MESH:D038901|MESH:D061085

TreeNumbers:

C06.198.050/C537923 |C10.500.034/C537923 |C10.597.606.360.455/C537923 |C10.597.613.575/C537923 |C16.131.314.094/C537923 |C16.131.666.034/C537923 |C16.320.322.500/C537923 |C16.320.400.525/C537923 |C23.300.008/C537923 |C23.888.592.608.575/C537923 |C23.888.821.150/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C537923
MeSH: C537923
OMIM: 305450;
MSeqDR :
Genes: CASK; FGS3; FLNA; IRF6; MED12;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001627	Abnormal heart morphology
3	HP:0001739	Abnormality of the nasopharynx
4	HP:0000766	Abnormality of the sternum
5	HP:0002023	Anal atresia
6	HP:0002025	Anal stenosis
7	HP:0001545	Anteriorly placed anus
8	HP:0007018	Attention deficit hyperactivity disorder
9	HP:0010055	Broad hallux
10	HP:0011304	Broad thumb
11	HP:0012385	Camptodactyly
12	HP:0000453	Choanal atresia
13	HP:0000175	Cleft palate
14	HP:0000204	Cleft upper lip
15	HP:0030084	Clinodactyly
16	HP:0002019	Constipation
17	HP:0000028	Cryptorchidism
18	HP:0001476	Delayed closure of the anterior fontanelle
19	HP:0000678	Dental crowding
20	HP:0000494	Downslanted palpebral fissures
21	HP:0000286	Epicanthus
22	HP:0009762	Facial wrinkling
23	HP:0002213	Fine hair
24	HP:0002007	Frontal bossing
25	HP:0002236	Frontal upsweep of hair
26	HP:0001263	Global developmental delay NAMDC: Mental retardation
27	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
28	HP:0002282	Heterotopia
29	HP:0001620	High pitched voice
30	HP:0000238	Hydrocephalus
31	HP:0000316	Hypertelorism
32	HP:0000047	Hypospadias
33	HP:0000023	Inguinal hernia
34	HP:0001249	Intellectual disability
35	HP:0002566	Intestinal malrotation
36	HP:0009473	Joint contracture of the hand
37	HP:0000343	Long philtrum
38	HP:0002938	Lumbar hyperlordosis
39	HP:0000347	Micrognathia
40	HP:0011266	Microtia, first degree
41	HP:0001270	Motor delay
42	HP:0002828	Multiple joint contractures
43	HP:0000189	Narrow palate
44	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
45	HP:0001338	Partial agenesis of the corpus callosum
46	HP:0001357	Plagiocephaly
47	HP:0005490	Postnatal macrocephaly
48	HP:0001212	Prominent fingertip pads
49	HP:0011220	Prominent forehead
50	HP:0000448	Prominent nose
51	HP:0002021	Pyloric stenosis
52	HP:0009466	Radial deviation of finger
53	HP:0000960	Sacral dimple
54	HP:0001250	Seizures NAMDC: Seizures
55	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
56	HP:0000470	Short neck
57	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)	Infantile onset
58	HP:0000954	Single transverse palmar crease
59	HP:0010609	Skin tags
60	HP:0008070	Sparse hair
61	HP:0001171	Split hand
62	HP:0000486	Strabismus
63	HP:0001159	Syndactyly
64	HP:0000179	Thick lower lip vermilion
65	HP:0001537	Umbilical hernia
66	HP:0000260	Wide anterior fontanel
67	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
NC_000023.10:g.(?_69748945)_(70644108_?)dup	9968	MED12	Uncertain significance	-1	RCV003116312;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	69748945	70644108		-
NC_000023.10:g.(?_70337406)_(70363304_?)del	9968	MED12	Pathogenic	-1	RCV003116311;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70337406	70363304		-
NC_000023.10:g.(?_70338585)_(70362088_?)del	9968	MED12	Uncertain significance	-1	RCV001304846;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338585	70362088	-1	-
NC_000023.10:g.(?_70338585)_(70362088_?)dup	9968	MED12	Uncertain significance	-1	RCV002011939;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338585	70362088	-1	-
NC_000023.11:g.(?_71118745)_(71142228_?)dup	9968	MED12	Uncertain significance	-1	RCV001032101;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338595	70362078	-1	-
NC_000023.11:g.(?_71118745)_(71224569_?)dup	9968	MED12	Uncertain significance	-1	RCV001033220;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338595	70444419	-1	-
NM_005120.3(MED12):c.27C>T (p.Tyr9=)	9968	MED12	Likely benign	376743527	RCV000431341\|RCV001505756\|RCV002436289;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70338631	70338631	X:g.70338631C>T	ClinGen:CA10443975	CN169374 not specified;
NM_005120.3(MED12):c.33C>T (p.His11=)	9968	MED12	Likely benign	1018272698	RCV001462894;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338637	70338637	70338637	-
NM_005120.3(MED12):c.33C>A (p.His11Gln)	9968	MED12	Uncertain significance	-1	RCV002296670;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338637	70338637	70338637	-
NM_005120.3(MED12):c.46C>A (p.Arg16=)	9968	MED12	Likely benign	-1	RCV002330579\|RCV003096429;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338650	70338650		-
NM_005120.3(MED12):c.66C>A (p.Pro22=)	9968	MED12	Uncertain significance	2092281557	RCV001307280;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338670	70338670	70338670	-
NM_005120.3(MED12):c.70G>A (p.Val24Ile)	9968	MED12	Uncertain significance	2092281566	RCV001318212;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338674	70338674	70338674	-
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)	9968	MED12	Uncertain significance	776154055	RCV001071914;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338680	70338680	X:g.70338680C>G	-
NM_005120.3(MED12):c.89A>G (p.Lys30Arg)	9968	MED12	Uncertain significance	2147767167	RCV001979141;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338693	70338693	70338693	-
NM_005120.3(MED12):c.96G>A (p.Lys32=)	9968	MED12	Likely benign	2147767218	RCV002130300;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338700	70338700	70338700	-
NM_005120.3(MED12):c.99+9G>A	9968	MED12	Likely benign	-1	RCV002726888;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70338712	70338712	NC_000023.10:g.70338712G>A	-
NM_005120.3(MED12):c.100-19C>T	9968	MED12	Likely benign	930154299	RCV000419152\|RCV002521592;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339204	70339204	X:g.70339204C>T	ClinGen:CA16608549	CN169374 not specified;
NM_005120.3(MED12):c.100-15_100-14delinsAA	9968	MED12	Likely benign	2147769578	RCV002180182;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339208	70339209	70339208	-
NM_005120.3(MED12):c.100-15_100-14delinsTT	9968	MED12	Uncertain significance	-1	RCV002877266;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339208	70339209	NC_000023.10:g.70339208_70339209delinsTT	-
NM_005120.3(MED12):c.100-11T>G	9968	MED12	Uncertain significance	-1	RCV002867390;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339212	70339212	NC_000023.10:g.70339212T>G	-
NM_005120.3(MED12):c.100-2A>T	9968	MED12	Likely pathogenic	-1	RCV002646812;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339221	70339221	NC_000023.10:g.70339221A>T	-
NM_005120.3(MED12):c.106C>A (p.Leu36Met)	9968	MED12	Uncertain significance	2147769903	RCV002008267;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339229	70339229	70339229	-
NM_005120.3(MED12):c.135C>T (p.Phe45=)	9968	MED12	Likely benign	2147770770	RCV002181023;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339258	70339258	70339258	-
NM_005120.3(MED12):c.137A>G (p.Asn46Ser)	9968	MED12	Likely benign	-1	RCV003043485;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339260	70339260	NC_000023.10:g.70339260A>G	-
NM_005120.3(MED12):c.147T>A (p.Pro49=)	9968	MED12	Likely benign	774875020	RCV000863265\|RCV003380759;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70339270	70339270	X:g.70339270T>A	-
NM_005120.3(MED12):c.153C>T (p.Val51=)	9968	MED12	Likely benign	-1	RCV002720547;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339276	70339276		-
NM_005120.3(MED12):c.171C>T (p.Gly57=)	9968	MED12	Benign/Likely benign	-1	RCV002399028\|RCV003100802;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339294	70339294		-
NM_005120.3(MED12):c.183C>T (p.Asn61=)	9968	MED12	Benign/Likely benign	770411750	RCV000609665\|RCV001518635\|RCV002413759\|RCV003437326;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70339306	70339306	X:g.70339306C>T	ClinGen:CA10444004	CN169374 not specified;
NM_005120.3(MED12):c.184G>A (p.Val62Ile)	9968	MED12	Uncertain significance	1039763693	RCV002313381\|RCV002532810\|RCV003139947;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415	X	70339307	70339307	NC_000023.10:g.70339307G>A	ClinGen:CA330974742	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.201C>G (p.Ala67=)	9968	MED12	Likely benign	374555675	RCV001486119\|RCV003160963\|RCV003438829;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70339324	70339324	70339324	-
NM_005120.3(MED12):c.204+7C>T	9968	MED12	Conflicting interpretations of pathogenicity	776275934	RCV001455047\|RCV003331159;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN169374	X	70339334	70339334	70339334	-
NM_005120.3(MED12):c.204+9A>G	9968	MED12	Likely benign	-1	RCV002886220;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339336	70339336	NC_000023.10:g.70339336A>G	-
NM_005120.3(MED12):c.204+12_204+13del	9968	MED12	Benign	200301833	RCV000197184\|RCV000227345;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339337	70339338	NC_000023.10:g.70339337CT[1]	ClinGen:CA321627	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.205-38C>T	9968	MED12	Benign/Likely benign	12850852	RCV000254396\|RCV000832621\|RCV001775733\|RCV001775734\|RCV001775732;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339498	70339498	NC_000023.10:g.70339498C>T	ClinGen:CA10444015	CN169374 not specified;
NM_005120.3(MED12):c.205-20G>A	9968	MED12	Benign	780403920	RCV002208974;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339516	70339516	70339516	-
NM_005120.3(MED12):c.205-3C>T	9968	MED12	Uncertain significance	-1	RCV002972195;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339533	70339533	NC_000023.10:g.70339533C>T	-
NM_005120.3(MED12):c.216C>T (p.Asn72=)	9968	MED12	Uncertain significance	-1	RCV002835303;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339547	70339547		-
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)	9968	MED12	Likely pathogenic	867655376	RCV000990861;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339555	70339555	X:g.70339555G>C	-
NM_005120.3(MED12):c.232G>A (p.Ala78Thr)	9968	MED12	Likely benign	-1	RCV002654715;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339563	70339563	NC_000023.10:g.70339563G>A	-
NM_005120.3(MED12):c.255C>T (p.Thr85=)	9968	MED12	Likely benign	979820064	RCV001461193;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339586	70339586	70339586	-
NM_005120.3(MED12):c.267T>C (p.Thr89=)	9968	MED12	Uncertain significance	-1	RCV002872468;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339598	70339598		-
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)	9968	MED12	Uncertain significance	1057524478	RCV000420005\|RCV001298178\|RCV003223406;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70339603	70339603	X:g.70339603G>T	ClinGen:CA16608550	CN169374 not specified;
NM_005120.3(MED12):c.272G>A (p.Arg91His)	9968	MED12	Uncertain significance	1057524478	RCV002272828\|RCV003096138;	N	MONDO:MONDO:0100000,MedGen:CN305246\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339603	70339603	70339603	-
NM_005120.3(MED12):c.281C>T (p.Pro94Leu)	9968	MED12	Uncertain significance	1602293842	RCV000793124;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339612	70339612	X:g.70339612C>T	-
NM_005120.3(MED12):c.285A>G (p.Gln95=)	9968	MED12	Likely benign	-1	RCV002952999;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339616	70339616		-
NM_005120.3(MED12):c.300T>C (p.Asp100=)	9968	MED12	Likely benign	2147773351	RCV002194712;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339631	70339631	70339631	-
NM_005120.3(MED12):c.320C>T (p.Ala107Val)	9968	MED12	Uncertain significance	2092284960	RCV001321028;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339651	70339651	70339651	-
NM_005120.3(MED12):c.321A>C (p.Ala107=)	9968	MED12	Benign/Likely benign	748627661	RCV002086813\|RCV003161325;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70339652	70339652	70339652	-
NM_005120.3(MED12):c.322C>T (p.Arg108Ter)	9968	MED12	not provided	2147773440	RCV001580297;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339653	70339653	70339653	-
NM_005120.3(MED12):c.324A>G (p.Arg108=)	9968	MED12	Likely benign	772440501	RCV001415311;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339655	70339655	70339655	-
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)	9968	MED12	Uncertain significance	-1	RCV003120038;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339692	70339692	NC_000023.10:g.70339692G>T	-
NM_005120.3(MED12):c.369C>T (p.Thr123=)	9968	MED12	Conflicting interpretations of pathogenicity	769484204	RCV000731476\|RCV002067120;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339700	70339700	NC_000023.10:g.70339700C>T	-
NM_005120.3(MED12):c.380C>T (p.Thr127Met)	9968	MED12	Benign	775072642	RCV001511003;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339711	70339711	X:g.70339711C>T	ClinGen:CA10444027	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.381G>A (p.Thr127=)	9968	MED12	Conflicting interpretations of pathogenicity	202125318	RCV000177224\|RCV000724071\|RCV001083528\|RCV002314627;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70339712	70339712	X:g.70339712G>A	ClinGen:CA243348	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.384A>G (p.Gln128=)	9968	MED12	Benign/Likely benign	201566660	RCV000425539\|RCV000862034\|RCV001729578\|RCV002314151\|RCV002488883;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0012997,MeSH:C5356	X	70339715	70339715	X:g.70339715A>G	ClinGen:CA10444028	CN169374 not specified;
NM_005120.3(MED12):c.397-12A>T	9968	MED12	Benign	192515277	RCV000199598\|RCV002054306;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339852	70339852	X:g.70339852A>T	ClinGen:CA324140	CN169374 not specified;
NM_005120.3(MED12):c.397-12A>G	9968	MED12	Conflicting interpretations of pathogenicity	192515277	RCV000413334\|RCV003388835\|RCV003409579;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0100000,MedGen:CN305246	X	70339852	70339852	X:g.70339852A>G	ClinGen:CA16043331	CN169374 not specified;
NM_005120.3(MED12):c.397-7C>T	9968	MED12	Likely benign	2092285587	RCV001451613;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339857	70339857	70339857	-
NM_005120.3(MED12):c.399C>A (p.Val133=)	9968	MED12	Likely benign	754050535	RCV002212438;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339866	70339866	70339866	-
NM_005120.3(MED12):c.438A>G (p.Leu146=)	9968	MED12	Benign/Likely benign	35068602	RCV000153478\|RCV000541216\|RCV002312996;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70339905	70339905	X:g.70339905A>G	ClinGen:CA295624	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	9968	MED12	Uncertain significance	748453083	RCV002503255\|RCV003238147\|RCV003401704;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068,Orph	X	70339906	70339906	70339906	-
NM_005120.3(MED12):c.448A>G (p.Thr150Ala)	9968	MED12	Uncertain significance	758980420	RCV001916020;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339915	70339915	70339915	-
NM_005120.3(MED12):c.454C>T (p.Pro152Ser)	9968	MED12	Uncertain significance	2147774389	RCV002028762;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339921	70339921	70339921	-
NM_005120.3(MED12):c.466G>A (p.Ala156Thr)	9968	MED12	Uncertain significance	2147774436	RCV001900713;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339933	70339933	70339933	-
NM_005120.3(MED12):c.477C>T (p.Leu159=)	9968	MED12	Likely benign	1304010114	RCV001455656;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339944	70339944	70339944	-
NM_005120.3(MED12):c.478A>G (p.Ile160Val)	9968	MED12	Uncertain significance	-1	RCV003040726;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339945	70339945	NC_000023.10:g.70339945A>G	-
NM_005120.3(MED12):c.492T>C (p.Cys164=)	9968	MED12	Likely benign	886039163	RCV000633695\|RCV002311185;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70339959	70339959	X:g.70339959T>C	ClinGen:CA10587979	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.503C>T (p.Ala168Val)	9968	MED12	Uncertain significance	1602294043	RCV000821554;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70339970	70339970	X:g.70339970C>T	-
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)	9968	MED12	Pathogenic	2147774632	RCV001580298\|RCV002272482;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0100000,MedGen:CN305246	X	70339981	70339981	70339981	-
NM_005120.3(MED12):c.536A>G (p.His179Arg)	9968	MED12	Uncertain significance	2092285751	RCV001266489\|RCV001366105;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340003	70340003	X:g.70340003A>G	-
NM_005120.3(MED12):c.543C>T (p.Asp181=)	9968	MED12	Likely benign	-1	RCV002966322;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340010	70340010		-
NM_005120.3(MED12):c.553+9C>T	9968	MED12	Likely benign	1602294060	RCV001414522;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340029	70340029	X:g.70340029C>T	-
NM_005120.3(MED12):c.553+13T>C	9968	MED12	Likely benign	2147774701	RCV002105727;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340033	70340033	70340033	-
NM_005120.3(MED12):c.554-16T>A	9968	MED12	Benign	760845015	RCV001614675\|RCV002539561;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340805	70340805	70340805	-
NM_005120.3(MED12):c.554-13C>G	9968	MED12	Likely benign	1033217662	RCV002137912;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340808	70340808	70340808	-
NM_005120.3(MED12):c.568A>G (p.Ile190Val)	9968	MED12	Conflicting interpretations of pathogenicity	374780236	RCV000633692\|RCV001719885\|RCV002345427\|RCV000121332;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	X	70340835	70340835	X:g.70340835A>G	ClinGen:CA289163	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)	9968	MED12	Uncertain significance	-1	RCV002358303\|RCV003098117;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340872	70340872	70340872	-
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)	9968	MED12	Uncertain significance	1556334331	RCV000536062\|RCV003330756;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0002010,MedGen:C0220769,OMIM:PS305400; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70340883	70340883	NC_000023.10:g.70340883C>G	ClinGen:CA413500640	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)	9968	MED12	Uncertain significance	-1	RCV003071109;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340883	70340883	NC_000023.10:g.70340883C>T	-
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	9968	MED12	Conflicting interpretations of pathogenicity	2092288110	RCV001318398\|RCV001810026;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70340884	70340884	70340884	-
NM_005120.3(MED12):c.621A>T (p.Pro207=)	9968	MED12	Likely benign	1467258035	RCV001405468\|RCV001545678;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70340888	70340888	70340888	-
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)	9968	MED12	Uncertain significance	1379201163	RCV000678351\|RCV001766456;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70340895	70340895	X:g.70340895G>C	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.629C>T (p.Ala210Val)	9968	MED12	Likely benign	-1	RCV002756743;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340896	70340896	NC_000023.10:g.70340896C>T	-
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)	9968	MED12	Uncertain significance	-1	RCV002810918\|RCV003108132;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70340908	70340908	NC_000023.10:g.70340908G>A	-
NM_005120.3(MED12):c.653C>T (p.Thr218Met)	9968	MED12	Conflicting interpretations of pathogenicity	369083173	RCV000178900\|RCV001421490\|RCV002311030;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70340920	70340920	X:g.70340920C>T	ClinGen:CA246095	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.658G>C (p.Gly220Arg)	9968	MED12	Uncertain significance	2147777706	RCV001361304;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340925	70340925	70340925	-
NM_005120.3(MED12):c.669C>G (p.Pro223=)	9968	MED12	Likely benign	2092288251	RCV002093198;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340936	70340936	70340936	-
NM_005120.3(MED12):c.671A>G (p.His224Arg)	9968	MED12	Uncertain significance	1459490134	RCV001998351;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340938	70340938	70340938	-
NM_005120.3(MED12):c.672T>C (p.His224=)	9968	MED12	Likely benign	1407401085	RCV001486781;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340939	70340939	70340939	-
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)	9968	MED12	Conflicting interpretations of pathogenicity	-1	RCV002765952\|RCV002775154\|RCV003134489;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	70340959	70340959	NC_000023.10:g.70340959G>A	-
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)	9968	MED12	Uncertain significance	-1	RCV002572494;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340968	70340968	NC_000023.10:g.70340968A>G	-
NM_005120.3(MED12):c.705C>T (p.Tyr235=)	9968	MED12	Likely benign	2147777898	RCV002207297;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340972	70340972	70340972	-
NM_005120.3(MED12):c.706A>G (p.Thr236Ala)	9968	MED12	Uncertain significance	2147777907	RCV002001023;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340973	70340973	70340973	-
NM_005120.3(MED12):c.707C>T (p.Thr236Ile)	9968	MED12	Uncertain significance	1278481602	RCV001872650\|RCV003416522;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|	X	70340974	70340974	70340974	-
NM_005120.3(MED12):c.708C>T (p.Thr236=)	9968	MED12	Benign/Likely benign	34668206	RCV000467485\|RCV002318554\|RCV003437216;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70340975	70340975	NC_000023.10:g.70340975C>T	ClinGen:CA10444059	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.708C>G (p.Thr236=)	9968	MED12	Likely benign	34668206	RCV000500867\|RCV002060130;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340975	70340975	NC_000023.10:g.70340975C>G	ClinGen:CA10444060	CN169374 not specified;
NM_005120.3(MED12):c.726C>T (p.Phe242=)	9968	MED12	Likely benign	-1	RCV002807136;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340993	70340993		-
NM_005120.3(MED12):c.727A>C (p.Met243Leu)	9968	MED12	Likely benign	1569480971	RCV000791694;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340994	70340994	X:g.70340994A>C	-
NM_005120.3(MED12):c.728T>C (p.Met243Thr)	9968	MED12	Uncertain significance	-1	RCV002302435;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70340995	70340995	70340995	-
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)	9968	MED12	Uncertain significance	-1	RCV002942783;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341000	70341000	NC_000023.10:g.70341000C>A	-
NM_005120.3(MED12):c.735+15A>G	9968	MED12	Likely benign	202206536	RCV000607187\|RCV002529653;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341017	70341017	X:g.70341017A>G	ClinGen:CA10444062	CN169374 not specified;
NM_005120.3(MED12):c.735+19T>C	9968	MED12	Likely benign	369585015	RCV002173556;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341021	70341021	70341021	-
NM_005120.3(MED12):c.736-14C>G	9968	MED12	Benign/Likely benign	373707149	RCV000438023\|RCV002059565;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341163	70341163	X:g.70341163C>G	ClinGen:CA10444073	CN169374 not specified;
NM_005120.3(MED12):c.736-10G>A	9968	MED12	Likely benign	764384329	RCV002184833;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341167	70341167	70341167	-
NM_005120.3(MED12):c.736-8A>C	9968	MED12	Benign	62609586	RCV000081270\|RCV000860366\|RCV001775576\|RCV001775577;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70341169	70341169	X:g.70341169A>C	ClinGen:CA285649	CN169374 not specified;
NM_005120.3(MED12):c.736-3T>C	9968	MED12	Uncertain significance	2092288995	RCV002022321;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341174	70341174	70341174	-
NM_005120.3(MED12):c.751A>C (p.Arg251=)	9968	MED12	Benign	-1	RCV002912561;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341192	70341192		-
NM_005120.3(MED12):c.789G>A (p.Glu263=)	9968	MED12	Likely benign	-1	RCV002958610;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341230	70341230		-
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)	9968	MED12	Benign	-1	RCV002610043;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341237	70341237	NC_000023.10:g.70341237C>T	-
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)	9968	MED12	Uncertain significance	1219519252	RCV000810605;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341258	70341258	X:g.70341258C>T	-
NM_005120.3(MED12):c.831G>A (p.Leu277=)	9968	MED12	Likely benign	2092289079	RCV001444581;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341272	70341272	70341272	-
NM_005120.3(MED12):c.846+6dup	9968	MED12	Benign	-1	RCV002616726;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341291	70341292	NC_000023.10:g.70341293dup	-
NM_005120.3(MED12):c.846+10G>A	9968	MED12	Likely benign	-1	RCV002942841;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341297	70341297	NC_000023.10:g.70341297G>A	-
NM_005120.3(MED12):c.847-13C>T	9968	MED12	Likely benign	374744294	RCV002137333;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341399	70341399	70341399	-
NM_005120.3(MED12):c.872C>A (p.Ala291Glu)	9968	MED12	Uncertain significance	754533515	RCV002313389\|RCV002531830;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341437	70341437	X:g.70341437C>A	ClinGen:CA10444098	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.876C>T (p.Tyr292=)	9968	MED12	Likely benign	-1	RCV003038821;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341441	70341441		-
NM_005120.3(MED12):c.877C>T (p.Leu293=)	9968	MED12	Likely benign	764716429	RCV001787500\|RCV002541260;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341442	70341442	70341442	-
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)	9968	MED12	Uncertain significance	-1	RCV002982984;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341448	70341448	NC_000023.10:g.70341448C>T	-
NM_005120.3(MED12):c.886C>T (p.Arg296Trp)	9968	MED12	Uncertain significance	-1	RCV003153067;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341451	70341451		-
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	9968	MED12	Pathogenic/Likely pathogenic	1556334519	RCV000623246\|RCV001580299\|RCV001805226\|RCV003117433;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MedGen:C3661900	X	70341452	70341452	NC_000023.10:g.70341452G>A	ClinGen:CA413504438	C0950123 Inborn genetic diseases;
NM_005120.3(MED12):c.903T>C (p.Cys301=)	9968	MED12	Likely benign	-1	RCV002861620;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341468	70341468		-
NM_005120.3(MED12):c.906A>G (p.Thr302=)	9968	MED12	Benign/Likely benign	1458066906	RCV001521827\|RCV002442825;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70341471	70341471	X:g.70341471A>G	-
NM_005120.3(MED12):c.927G>A (p.Leu309=)	9968	MED12	Likely benign	957824537	RCV001489911;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341492	70341492	70341492	-
NM_005120.3(MED12):c.931G>A (p.Gly311Ser)	9968	MED12	Conflicting interpretations of pathogenicity	1477622307	RCV002118199\|RCV003053430;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123	X	70341496	70341496	70341496	-
NM_005120.3(MED12):c.934G>C (p.Val312Leu)	9968	MED12	Benign/Likely benign	377403264	RCV000117597\|RCV000862608\|RCV001196895\|RCV001704026\|RCV002311005;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70341499	70341499	X:g.70341499G>C	ClinGen:CA288953	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.934G>A (p.Val312Met)	9968	MED12	Uncertain significance	377403264	RCV001901718;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341499	70341499	70341499	-
NM_005120.3(MED12):c.938G>A (p.Ser313Asn)	9968	MED12	Uncertain significance	1317622485	RCV001769134\|RCV002544129;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341503	70341503	70341503	-
NM_005120.3(MED12):c.954T>C (p.His318=)	9968	MED12	Benign	-1	RCV002805827;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341519	70341519		-
NM_005120.3(MED12):c.958A>G (p.Ile320Val)	9968	MED12	Benign	781192327	RCV001321836;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341523	70341523	70341523	-
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)	9968	MED12	Benign	-1	RCV002886448;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341523	70341523	NC_000023.10:g.70341523A>T	-
NM_005120.3(MED12):c.965C>T (p.Ala322Val)	9968	MED12	Uncertain significance	2092289745	RCV001300389;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341530	70341530	70341530	-
NM_005120.3(MED12):c.966T>C (p.Ala322=)	9968	MED12	Likely benign	370616416	RCV000867270\|RCV001638003;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70341531	70341531	X:g.70341531T>C	-
NM_005120.3(MED12):c.981G>A (p.Thr327=)	9968	MED12	Benign	769757456	RCV001516544;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341546	70341546	70341546	-
NM_005120.3(MED12):c.982C>T (p.Leu328=)	9968	MED12	Likely benign	-1	RCV002710618;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341547	70341547		-
NM_005120.3(MED12):c.988A>C (p.Thr330Pro)	9968	MED12	Uncertain significance	2147780054	RCV001918026;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341553	70341553	70341553	-
NM_005120.3(MED12):c.998C>T (p.Ala333Val)	9968	MED12	Likely benign	-1	RCV003045871;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341563	70341563	NC_000023.10:g.70341563C>T	-
NM_005120.3(MED12):c.1011A>G (p.Pro337=)	9968	MED12	Likely benign	749348331	RCV001965866;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341576	70341576	70341576	-
NM_005120.3(MED12):c.1011A>C (p.Pro337=)	9968	MED12	Benign	-1	RCV003074037;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341576	70341576		-
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)	9968	MED12	Uncertain significance	-1	RCV002760396;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341577	70341577	NC_000023.10:g.70341577A>G	-
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile)	9968	MED12	Likely benign	774518546	RCV001058134;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341587	70341587	X:g.70341587C>T	-
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu)	9968	MED12	Likely benign	764107388	RCV000196724\|RCV000868543\|RCV002381672;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70341593	70341593	X:g.70341593C>T	ClinGen:CA321145	CN169374 not specified;
NM_005120.3(MED12):c.1029G>A (p.Ser343=)	9968	MED12	Likely benign	-1	RCV002604844;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341594	70341594		-
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro)	9968	MED12	Uncertain significance	1556334571	RCV000533767;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341595	70341595	NC_000023.10:g.70341595A>C	ClinGen:CA413505047	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn)	9968	MED12	Benign/Likely benign	773615925	RCV001562508\|RCV002070390;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341596	70341596	70341596	-
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	9968	MED12	Conflicting interpretations of pathogenicity	752300879	RCV000197655\|RCV000766102\|RCV001519325\|RCV002315604;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450,O	X	70341604	70341604	X:g.70341604A>G	ClinGen:CA322114	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)	9968	MED12	Uncertain significance	-1	RCV002303166;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341625	70341625	70341625	-
NM_005120.3(MED12):c.1066C>A (p.Arg356=)	9968	MED12	Conflicting interpretations of pathogenicity	763867883	RCV001338747\|RCV001697911;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70341631	70341631	X:g.70341631C>A	ClinGen:CA10444116	CN169374 not specified;
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr)	9968	MED12	Uncertain significance	2147780559	RCV002010474;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341656	70341656	70341656	-
NM_005120.3(MED12):c.1098A>G (p.Leu366=)	9968	MED12	Likely benign	1325162892	RCV001497577\|RCV002445028;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70341663	70341663	X:g.70341663A>G	-
NM_005120.3(MED12):c.1101+3A>G	9968	MED12	Uncertain significance	-1	RCV003024991;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341669	70341669	NC_000023.10:g.70341669A>G	-
NM_005120.3(MED12):c.1101+14G>C	9968	MED12	Likely benign	-1	RCV003071998;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341680	70341680	NC_000023.10:g.70341680G>C	-
NM_005120.3(MED12):c.1101+14G>A	9968	MED12	Benign	-1	RCV002624171;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341680	70341680	NC_000023.10:g.70341680G>A	-
NM_005120.3(MED12):c.1101+18C>T	9968	MED12	Benign	200510424	RCV000200785\|RCV002054307;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341684	70341684	NC_000023.10:g.70341684C>T	ClinGen:CA325369	CN169374 not specified;
NM_005120.3(MED12):c.1101+19C>T	9968	MED12	Likely benign	-1	RCV002576034;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70341685	70341685	NC_000023.10:g.70341685C>T	-
NM_005120.3(MED12):c.1102-20T>C	9968	MED12	Likely benign	2147781663	RCV002102020;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342030	70342030	70342030	-
NM_005120.3(MED12):c.1102-9A>G	9968	MED12	Likely benign	1165300427	RCV001406953;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342041	70342041	X:g.70342041A>G	-
NM_005120.3(MED12):c.1113G>A (p.Leu371=)	9968	MED12	Benign/Likely benign	780470012	RCV000841240\|RCV002538304;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342061	70342061	X:g.70342061G>A	-
NM_005120.3(MED12):c.1131G>A (p.Leu377=)	9968	MED12	Uncertain significance	755897379	RCV001915696;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342079	70342079	70342079	-
NM_005120.3(MED12):c.1140C>T (p.His380=)	9968	MED12	Benign/Likely benign	753714929	RCV000471283\|RCV001090306\|RCV002313211;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342088	70342088	NC_000023.10:g.70342088C>T	ClinGen:CA10444140	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.1167G>A (p.Lys389=)	9968	MED12	Benign/Likely benign	374324656	RCV000432789\|RCV000620011\|RCV000550932\|RCV000720035\|RCV001729579;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C2711754\|MedGen:CN517202	X	70342115	70342115	X:g.70342115G>A	ClinGen:CA10444142	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.1170C>T (p.Thr390=)	9968	MED12	Benign	772236514	RCV001511694;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342118	70342118	X:g.70342118C>T	-
NM_005120.3(MED12):c.1197T>A (p.Ile399=)	9968	MED12	Likely benign	-1	RCV003063809;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342145	70342145		-
NM_005120.3(MED12):c.1203G>A (p.Pro401=)	9968	MED12	Benign/Likely benign	368546216	RCV001551311\|RCV002067051\|RCV002316691;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342151	70342151	NC_000023.10:g.70342151G>A	-
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)	9968	MED12	Uncertain significance	1602295395	RCV000806407;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342156	70342156	X:g.70342156A>G	-
NM_005120.3(MED12):c.1248+7C>G	9968	MED12	Likely benign	2147782206	RCV002158452;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342203	70342203	70342203	-
NM_005120.3(MED12):c.1248+13A>G	9968	MED12	Likely benign	-1	RCV002780247;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342209	70342209	NC_000023.10:g.70342209A>G	-
NM_005120.3(MED12):c.1248+15T>C	9968	MED12	Conflicting interpretations of pathogenicity	187377817	RCV000193778\|RCV000514187\|RCV002055672\|RCV002390286;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342211	70342211	X:g.70342211T>C	ClinGen:CA207502	CN517202 not provided;
NM_005120.3(MED12):c.1249-16C>T	9968	MED12	Likely benign	-1	RCV002651347;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342342	70342342	NC_000023.10:g.70342342C>T	-
NM_005120.3(MED12):c.1249-4G>T	9968	MED12	Likely benign	1272068008	RCV001392937;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342354	70342354	70342354	-
NM_005120.3(MED12):c.1249-1G>C	9968	MED12	not provided	2147783158	RCV001580300;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342357	70342357	70342357	-
NM_005120.3(MED12):c.1249G>A (p.Val417Ile)	9968	MED12	Uncertain significance	2147783166	RCV002223141\|RCV003101257;	N	MONDO:MONDO:0012744,MedGen:C2678476,OMIM:611878, Orphanet:154, Orphanet:54260\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342358	70342358	70342358	-
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys)	9968	MED12	Uncertain significance	2147783217	RCV001930683;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342361	70342361	70342361	-
NM_005120.3(MED12):c.1257A>C (p.Ala419=)	9968	MED12	Likely benign	754943978	RCV001455284;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342366	70342366	70342366	-
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	9968	MED12	Conflicting interpretations of pathogenicity	368913305	RCV000702451\|RCV000735096\|RCV000766103\|RCV002408870;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895,Or	X	70342373	70342373	NC_000023.10:g.70342373C>T	ClinGen:CA324409	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1269G>A (p.Glu423=)	9968	MED12	Likely benign	758467351	RCV000526926;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342378	70342378	X:g.70342378G>A	ClinGen:CA10444159	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)	9968	MED12	Uncertain significance	-1	RCV002297307;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342409	70342409	70342409	-
NM_005120.3(MED12):c.1314C>T (p.Arg438=)	9968	MED12	Likely benign	-1	RCV002780592;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342423	70342423		-
NM_005120.3(MED12):c.1323C>T (p.Phe441=)	9968	MED12	Likely benign	371928861	RCV000875838\|RCV002382004;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342432	70342432	X:g.70342432C>T	-
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg)	9968	MED12	Uncertain significance	2092292301	RCV002254127\|RCV003120856;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342437	70342437	70342437	-
NM_005120.3(MED12):c.1332C>T (p.Cys444=)	9968	MED12	Benign/Likely benign	746205041	RCV000534554\|RCV001516620\|RCV003302787;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342441	70342441	X:g.70342441C>T	ClinGen:CA10444164	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1344T>G (p.Thr448=)	9968	MED12	Likely benign	375202766	RCV001698093\|RCV002066531\|RCV003372770;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342453	70342453	X:g.70342453T>G	ClinGen:CA10444165	CN169374 not specified;
NM_005120.3(MED12):c.1348+14A>C	9968	MED12	Likely benign	937971791	RCV002152821;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342471	70342471	70342471	-
NM_005120.3(MED12):c.1348+18G>A	9968	MED12	Benign/Likely benign	776024292	RCV000431605\|RCV002062329;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342475	70342475	X:g.70342475G>A	ClinGen:CA10444166	CN169374 not specified;
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp)	9968	MED12	Uncertain significance	1268612180	RCV001819530\|RCV001869697;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342602	70342602	70342602	-
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)	9968	MED12	Uncertain significance	760696164	RCV001206723\|RCV002071861\|RCV002379784;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342603	70342603	X:g.70342603G>A	-
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)	9968	MED12	Uncertain significance	2092292878	RCV001062664\|RCV001535455;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776	X	70342615	70342615	X:g.70342615C>T	-
NM_005120.3(MED12):c.1377T>A (p.Thr459=)	9968	MED12	Likely benign	764293738	RCV001485374\|RCV002384790;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70342616	70342616	70342616	-
NM_005120.3(MED12):c.1386G>T (p.Val462=)	9968	MED12	Benign	186153976	RCV000196766\|RCV000618012\|RCV000633701\|RCV000717989;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C2711754	X	70342625	70342625	X:g.70342625G>T	ClinGen:CA321183	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.1425C>T (p.Asn475=)	9968	MED12	Likely benign	-1	RCV003028135;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342664	70342664		-
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn)	9968	MED12	Uncertain significance	2092293014	RCV001304225\|RCV001773612;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70342671	70342671	70342671	-
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)	9968	MED12	Uncertain significance	-1	RCV003072807;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342687	70342687	NC_000023.10:g.70342687G>A	-
NM_005120.3(MED12):c.1476T>C (p.Asp492=)	9968	MED12	Likely benign	1602295711	RCV001448715;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342715	70342715	X:g.70342715T>C	-
NM_005120.3(MED12):c.1485+5G>A	9968	MED12	Uncertain significance	1006276729	RCV000823116;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342729	70342729	X:g.70342729G>A	-
NM_005120.3(MED12):c.1485+6C>T	9968	MED12	Benign	565198403	RCV000633700\|RCV001712296\|RCV001821207;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MedGen:CN169374	X	70342730	70342730	X:g.70342730C>T	ClinGen:CA10444181	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1485+7G>A	9968	MED12	Likely benign	2092293131	RCV002125334;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342731	70342731	70342731	-
NM_005120.3(MED12):c.1485+9A>G	9968	MED12	Likely benign	1602295737	RCV001485263;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342733	70342733	X:g.70342733A>G	-
NM_005120.3(MED12):c.1485+14G>A	9968	MED12	Likely benign	1276319871	RCV002092300;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342738	70342738	70342738	-
NM_005120.3(MED12):c.1486-13C>T	9968	MED12	Likely benign	-1	RCV002622824;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342932	70342932	NC_000023.10:g.70342932C>T	-
NM_005120.3(MED12):c.1486-8T>C	9968	MED12	Likely benign	1202454929	RCV002097738;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342937	70342937	70342937	-
NM_005120.3(MED12):c.1486-4C>A	9968	MED12	Likely benign	-1	RCV002800509;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342941	70342941	NC_000023.10:g.70342941C>A	-
NM_005120.3(MED12):c.1513T>A (p.Ser505Thr)	9968	MED12	Likely benign	763909049	RCV002148882;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342972	70342972	70342972	-
NM_005120.3(MED12):c.1536C>T (p.Val512=)	9968	MED12	Likely benign	942361290	RCV001497829;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70342995	70342995	70342995	-
NM_005120.3(MED12):c.1545G>A (p.Lys515=)	9968	MED12	Likely benign	1602295964	RCV001437248;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343004	70343004	X:g.70343004G>A	-
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)	9968	MED12	Likely pathogenic	1569481124	RCV000757919;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343005	70343005	NC_000023.10:g.70343005C>T	-
NM_005120.3(MED12):c.1547G>A (p.Arg516His)	9968	MED12	Pathogenic	1556334969	RCV000520254\|RCV001580301;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343006	70343006	X:g.70343006G>A	ClinGen:CA413507386	CN517202 not provided;
NM_005120.3(MED12):c.1554T>A (p.Gly518=)	9968	MED12	Likely benign	2147786408	RCV002101282;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343013	70343013	70343013	-
NM_005120.3(MED12):c.1556G>A (p.Arg519Gln)	9968	MED12	Conflicting interpretations of pathogenicity	1323878836	RCV001757217\|RCV002544075;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343015	70343015	70343015	-
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)	9968	MED12	Uncertain significance	1289442309	RCV001763297\|RCV002540337\|RCV003382640;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343024	70343024	70343024	-
NM_005120.3(MED12):c.1599G>A (p.Gln533=)	9968	MED12	Likely benign	914308415	RCV000868508\|RCV001453265\|RCV002399916;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343058	70343058	X:g.70343058G>A	-
NM_005120.3(MED12):c.1617+8G>T	9968	MED12	Likely benign	-1	RCV002877319;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343084	70343084	NC_000023.10:g.70343084G>T	-
NM_005120.3(MED12):c.1618-18_1618-15del	9968	MED12	Benign/Likely benign	1285811923	RCV001669559\|RCV002539664;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343424	70343427	70343423	-
NM_005120.3(MED12):c.1619G>A (p.Arg540His)	9968	MED12	Uncertain significance	774363039	RCV000701859\|RCV002397456;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343445	70343445	NC_000023.10:g.70343445G>A	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)	9968	MED12	Uncertain significance	-1	RCV003043367;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343448	70343448	NC_000023.10:g.70343448G>A	-
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln)	9968	MED12	Uncertain significance	2147787733	RCV001365824;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343459	70343459	70343459	-
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)	9968	MED12	Uncertain significance	-1	RCV002908020;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343462	70343462	NC_000023.10:g.70343462G>C	-
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr)	9968	MED12	Benign/Likely benign	370812643	RCV000872237\|RCV002399937;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343465	70343465	X:g.70343465G>A	-
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)	9968	MED12	Uncertain significance	-1	RCV002967876;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343465	70343465	NC_000023.10:g.70343465G>T	-
NM_005120.3(MED12):c.1640C>T (p.Ala547Val)	9968	MED12	Uncertain significance	-1	RCV002592907;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343466	70343466	NC_000023.10:g.70343466C>T	-
NM_005120.3(MED12):c.1659C>T (p.Ile553=)	9968	MED12	Likely benign	763388314	RCV000863165\|RCV001722574\|RCV002404622;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343485	70343485	X:g.70343485C>T	ClinGen:CA10444215	CN169374 not specified;
NM_005120.3(MED12):c.1662C>T (p.Ala554=)	9968	MED12	Likely benign	1379633991	RCV001488995\|RCV003307778;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343488	70343488	X:g.70343488C>T	-
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser)	9968	MED12	Uncertain significance	2092295382	RCV001344051;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343492	70343492	70343492	-
NM_005120.3(MED12):c.1671C>T (p.Ser557=)	9968	MED12	Likely benign	1556335123	RCV000551580;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343497	70343497	NC_000023.10:g.70343497C>T	ClinGen:CA516714847	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)	9968	MED12	Conflicting interpretations of pathogenicity	766485358	RCV000480397\|RCV000633691\|RCV002413338;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343508	70343508	X:g.70343508C>T	ClinGen:CA10444218	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1695T>A (p.Ile565=)	9968	MED12	Benign	138984044	RCV000194224\|RCV000460842\|RCV001705081\|RCV002314832;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343521	70343521	X:g.70343521T>A	ClinGen:CA208256	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.1738A>G (p.Met580Val)	9968	MED12	Likely benign	576733100	RCV002097911\|RCV002398212;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70343564	70343564	70343564	-
NM_005120.3(MED12):c.1744+4C>T	9968	MED12	Conflicting interpretations of pathogenicity	780750721	RCV000423906\|RCV000811541;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343574	70343574	NC_000023.10:g.70343574C>T	ClinGen:CA10444223	CN169374 not specified;
NM_005120.3(MED12):c.1744+5G>A	9968	MED12	Uncertain significance	368353373	RCV000473894;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343575	70343575	NC_000023.10:g.70343575G>A	ClinGen:CA16616699	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1744+14C>T	9968	MED12	Likely benign	1263378137	RCV000613752\|RCV002064206;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343584	70343584	X:g.70343584C>T	ClinGen:CA641914762	CN169374 not specified;
NM_005120.3(MED12):c.1745-19C>T	9968	MED12	Likely benign	1057524262	RCV000418305\|RCV002060070;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343990	70343990	X:g.70343990C>T	ClinGen:CA16608558	CN169374 not specified;
NM_005120.3(MED12):c.1745-10C>T	9968	MED12	Likely benign	2147789290	RCV001416259;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70343999	70343999	70343999	-
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp)	9968	MED12	Uncertain significance	2147789356	RCV001969321;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344031	70344031	70344031	-
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)	9968	MED12	Uncertain significance	-1	RCV002958705;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344033	70344033	NC_000023.10:g.70344033G>A	-
NM_005120.3(MED12):c.1773G>A (p.Val591=)	9968	MED12	Likely benign	1476863671	RCV002098306;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344037	70344037	70344037	-
NM_005120.3(MED12):c.1794G>A (p.Leu598=)	9968	MED12	Benign	776762599	RCV001521097;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344058	70344058	70344058	-
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)	9968	MED12	Uncertain significance	-1	RCV002301612;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344065	70344065	70344065	-
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln)	9968	MED12	Uncertain significance	1275427306	RCV001969808;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344078	70344078	70344078	-
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu)	9968	MED12	Uncertain significance	375897167	RCV001305004;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344085	70344085	70344085	-
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)	9968	MED12	Uncertain significance	-1	RCV002958613;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344107	70344107	NC_000023.10:g.70344107A>G	-
NM_005120.3(MED12):c.1844C>T (p.Thr615Ile)	9968	MED12	Likely benign	-1	RCV003060139;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344108	70344108	NC_000023.10:g.70344108C>T	-
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)	9968	MED12	Conflicting interpretations of pathogenicity	765417606	RCV000199251\|RCV000224083\|RCV001477647\|RCV002315605;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450,O	X	70344113	70344113	X:g.70344113A>G	ClinGen:CA277526	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.1854C>T (p.Leu618=)	9968	MED12	Likely benign	775882680	RCV001459038;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344118	70344118	70344118	-
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)	9968	MED12	Likely pathogenic	1057519381	RCV000416709;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344126	70344126	NC_000023.10:g.70344126G>A	ClinGen:CA16044154	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1875C>T (p.Ala625=)	9968	MED12	Likely benign	-1	RCV002672204;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344139	70344139		-
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)	9968	MED12	Uncertain significance	-1	RCV002791699;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344177	70344177	NC_000023.10:g.70344177A>G	-
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)	9968	MED12	Uncertain significance	-1	RCV002766876;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344186	70344186	NC_000023.10:g.70344186C>T	-
NM_005120.3(MED12):c.1923C>G (p.Ala641=)	9968	MED12	Likely benign	754725206	RCV001423275;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344187	70344187	X:g.70344187C>G	-
NM_005120.3(MED12):c.1924_1974+17dup	9968	MED12	Uncertain significance	-1	RCV002746737;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344187	70344188	NC_000023.10:g.70344188_70344255dup	-
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn)	9968	MED12	Uncertain significance	1556335288	RCV000527851;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344188	70344188	X:g.70344188G>A	ClinGen:CA413509918	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)	9968	MED12	Uncertain significance	950787066	RCV001175074\|RCV001209902;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344194	70344194	X:g.70344194C>A	-
NM_005120.3(MED12):c.1935G>A (p.Glu645=)	9968	MED12	Likely benign	376986062	RCV002143836;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344199	70344199	70344199	-
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala)	9968	MED12	Conflicting interpretations of pathogenicity	-1	RCV002761608\|RCV003232666;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70344207	70344207	NC_000023.10:g.70344207A>C	-
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)	9968	MED12	Uncertain significance	-1	RCV003040587;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344209	70344209	NC_000023.10:g.70344209G>C	-
NM_005120.3(MED12):c.1956C>T (p.Ser652=)	9968	MED12	Benign/Likely benign	199873151	RCV000633707\|RCV002420698;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70344220	70344220	X:g.70344220C>T	ClinGen:CA10444268	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1962C>T (p.Ser654=)	9968	MED12	Likely benign	-1	RCV002847413;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344226	70344226		-
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)	9968	MED12	Uncertain significance	1569481250	RCV000691119;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344227	70344227	X:g.70344227A>G	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro)	9968	MED12	Uncertain significance	2147790051	RCV002045311\|RCV003170549;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70344234	70344234	70344234	-
NM_005120.3(MED12):c.1974+7G>A	9968	MED12	Likely benign	-1	RCV003013950;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344245	70344245	NC_000023.10:g.70344245G>A	-
NM_005120.3(MED12):c.1974+15C>T	9968	MED12	Benign/Likely benign	186876895	RCV002090301\|RCV002494023;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MO	X	70344253	70344253	70344253	-
NM_005120.3(MED12):c.1975-9T>C	9968	MED12	Uncertain significance	-1	RCV002632167;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344605	70344605	NC_000023.10:g.70344605T>C	-
NM_005120.3(MED12):c.1975-7C>T	9968	MED12	Likely benign	762265257	RCV002080335;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344607	70344607	70344607	-
NM_005120.3(MED12):c.1975-5C>T	9968	MED12	Benign/Likely benign	200891932	RCV000602695\|RCV001512845;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344609	70344609	X:g.70344609C>T	ClinGen:CA10444279	CN169374 not specified;
NM_005120.3(MED12):c.1986C>T (p.Leu662=)	9968	MED12	Likely benign	-1	RCV002963220;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344625	70344625		-
NM_005120.3(MED12):c.1996A>G (p.Met666Val)	9968	MED12	Conflicting interpretations of pathogenicity	1401003961	RCV001198284\|RCV002071852\|RCV002418659\|RCV002560246\|RCV003438719;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MOND	X	70344635	70344635	X:g.70344635A>G	-
NM_005120.3(MED12):c.2009C>A (p.Pro670His)	9968	MED12	Uncertain significance	-1	RCV002628087;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344648	70344648	NC_000023.10:g.70344648C>A	-
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)	9968	MED12	Uncertain significance	-1	RCV000760197\|RCV000760289;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070, Orphanet:654; MOND	X	70344662	70344662	NC_000023.10:g.70344662C>T	-
NM_005120.3(MED12):c.2055+18C>T	9968	MED12	Likely benign	-1	RCV002751141;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344712	70344712	NC_000023.10:g.70344712C>T	-
NM_005120.3(MED12):c.2055+19G>A	9968	MED12	Benign	373450304	RCV001613847\|RCV002070481;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344713	70344713	70344713	-
NM_005120.3(MED12):c.2056-16C>G	9968	MED12	Likely benign	-1	RCV002681313;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344810	70344810	NC_000023.10:g.70344810C>G	-
NC_000023.11:g.71124975GTT[1]	9968	MED12	Uncertain significance	-1	RCV002663495;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344825	70344827		-
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala)	9968	MED12	Uncertain significance	878854752	RCV000231280;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344838	70344838	X:g.70344838A>G	ClinGen:CA10583952	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2091C>T (p.Gly697=)	9968	MED12	Likely benign	-1	RCV002601262;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344861	70344861		-
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)	9968	MED12	Uncertain significance	863223710	RCV000197861\|RCV001244805;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344863	70344863	X:g.70344863G>A	ClinGen:CA322321	CN169374 not specified;
NM_005120.3(MED12):c.2118C>T (p.Val706=)	9968	MED12	Likely benign	1346228842	RCV002313388\|RCV002531829\|RCV003437331;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70344888	70344888	NC_000023.10:g.70344888C>T	ClinGen:CA516818857	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.2119G>A (p.Glu707Lys)	9968	MED12	Likely benign	768834535	RCV002128553;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344889	70344889	70344889	-
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del)	9968	MED12	Conflicting interpretations of pathogenicity	1261680398	RCV001403804\|RCV003313224\|RCV003416321;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|	X	70344893	70344895	70344892	-
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)	9968	MED12	Uncertain significance	1187273369	RCV001060098;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344899	70344899	X:g.70344899T>C	-
NM_005120.3(MED12):c.2136C>T (p.Pro712=)	9968	MED12	Likely benign	377207665	RCV001419341\|RCV003437344;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70344906	70344906	X:g.70344906C>T	ClinGen:CA10444296	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser)	9968	MED12	Uncertain significance	772484830	RCV001571190\|RCV001866027;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344907	70344907	70344907	-
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)	9968	MED12	Uncertain significance	-1	RCV002305169;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344916	70344916	70344916	-
NM_005120.3(MED12):c.2169G>A (p.Gly723=)	9968	MED12	Likely benign	1060504497	RCV001404102;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344939	70344939	NC_000023.10:g.70344939G>A	ClinGen:CA16616696	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)	9968	MED12	Likely benign	-1	RCV002432736\|RCV003101107;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344940	70344940	70344940	-
NM_005120.3(MED12):c.2172T>C (p.Val724=)	9968	MED12	Likely benign	187478018	RCV001555837\|RCV002424979\|RCV002570706;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344942	70344942	70344942	-
NM_005120.3(MED12):c.2193C>T (p.His731=)	9968	MED12	Likely benign	-1	RCV003090033;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344963	70344963		-
NM_005120.3(MED12):c.2194G>A (p.Val732Met)	9968	MED12	Benign	750304793	RCV002173026;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344964	70344964	70344964	-
NM_005120.3(MED12):c.2202C>T (p.Tyr734=)	9968	MED12	Benign/Likely benign	1366328614	RCV002143852\|RCV003161633;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70344972	70344972	70344972	-
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr)	9968	MED12	Benign	756039521	RCV001047742;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344973	70344973	X:g.70344973G>A	-
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)	9968	MED12	not provided	2147791922	RCV001580302;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70344974	70344977	70344973	-
NM_005120.3(MED12):c.2220C>T (p.Ile740=)	9968	MED12	Likely benign	370195616	RCV000234149\|RCV000502631\|RCV001722248\|RCV002313939;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70344990	70344990	NC_000023.10:g.70344990C>T	ClinGen:CA10444309	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.2227-4G>A	9968	MED12	Uncertain significance	751157238	RCV000801279;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345197	70345197	X:g.70345197G>A	-
NM_005120.3(MED12):c.2232G>A (p.Glu744=)	9968	MED12	Likely benign	1012702212	RCV001439403;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345206	70345206	70345206	-
NM_005120.3(MED12):c.2235A>G (p.Ser745=)	9968	MED12	Likely benign	-1	RCV002839204;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345209	70345209		-
NM_005120.3(MED12):c.2259G>A (p.Arg753=)	9968	MED12	Benign	61752446	RCV000117598\|RCV000243503\|RCV000457091\|RCV000715801;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C2711754	X	70345233	70345233	X:g.70345233G>A	ClinGen:CA288955	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)	9968	MED12	Uncertain significance	-1	RCV003024156;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345237	70345237	NC_000023.10:g.70345237G>A	-
NM_005120.3(MED12):c.2265C>T (p.Val755=)	9968	MED12	Benign	750186446	RCV000875817;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345239	70345239	X:g.70345239C>T	-
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)	9968	MED12	Uncertain significance	-1	RCV002505986\|RCV002569410;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345240	70345240	NC_000023.10:g.70345240G>A	-
NM_005120.3(MED12):c.2271G>A (p.Leu757=)	9968	MED12	Benign/Likely benign	756091104	RCV001517082\|RCV001615045\|RCV002317503;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70345245	70345245	NC_000023.10:g.70345245G>A	-
NM_005120.3(MED12):c.2271G>C (p.Leu757=)	9968	MED12	Likely benign	-1	RCV002725794;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345245	70345245		-
NM_005120.3(MED12):c.2280G>A (p.Val760=)	9968	MED12	Benign	753948557	RCV002172839;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345254	70345254	70345254	-
NM_005120.3(MED12):c.2286G>A (p.Lys762=)	9968	MED12	Likely benign	1602297586	RCV001431753;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345260	70345260	X:g.70345260G>A	-
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr)	9968	MED12	Uncertain significance	2147792986	RCV001983747;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345270	70345270	70345270	-
NM_005120.3(MED12):c.2305C>A (p.His769Asn)	9968	MED12	Uncertain significance	755014778	RCV001218446;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345279	70345279	X:g.70345279C>A	-
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)	9968	MED12	Conflicting interpretations of pathogenicity	199860580	RCV000617840\|RCV001512606;	N	MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345282	70345282	NC_000023.10:g.70345282G>A	ClinGen:CA10444329	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.2311A>G (p.Ile771Val)	9968	MED12	Likely benign	749158402	RCV001441732\|RCV001566322;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70345285	70345285	70345285	-
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)	9968	MED12	Uncertain significance	778325168	RCV001580303\|RCV001587470\|RCV002449382;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70345286	70345286	70345286	-
NM_005120.3(MED12):c.2325C>G (p.Thr775=)	9968	MED12	Likely benign	2147793224	RCV002171331;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345299	70345299	70345299	-
NM_005120.3(MED12):c.2341G>A (p.Val781Ile)	9968	MED12	Uncertain significance	2092300526	RCV001324605\|RCV002447371;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70345315	70345315	70345315	-
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)	9968	MED12	Uncertain significance	2147793341	RCV002042447\|RCV003317570;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN169374	X	70345324	70345324	70345324	-
NM_005120.3(MED12):c.2351G>A (p.Arg784His)	9968	MED12	Uncertain significance	777238737	RCV001921905\|RCV003407885;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|	X	70345325	70345325	70345325	-
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)	9968	MED12	Uncertain significance	-1	RCV003114927;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345334	70345334	NC_000023.10:g.70345334C>G	-
NM_005120.3(MED12):c.2372-17_2372-6del	9968	MED12	Uncertain significance	-1	RCV003110294;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345488	70345499	NC_000023.10:g.70345496_70345507del	-
NM_005120.3(MED12):c.2372-8dup	9968	MED12	Likely benign	1457000276	RCV002146472;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345498	70345499	70345498	-
NM_005120.3(MED12):c.2372-10C>T	9968	MED12	Likely benign	752691764	RCV000983515;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345503	70345503	X:g.70345503C>T	-
NM_005120.3(MED12):c.2372-10C>G	9968	MED12	Likely benign	752691764	RCV002180243;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345503	70345503	70345503	-
NM_005120.3(MED12):c.2372-9C>A	9968	MED12	Likely benign	758698633	RCV001913987;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345504	70345504	70345504	-
NM_005120.3(MED12):c.2372-9C>G	9968	MED12	Uncertain significance	758698633	RCV001979264;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345504	70345504	70345504	-
NM_005120.3(MED12):c.2372-8C>G	9968	MED12	Likely benign	-1	RCV003072633;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345505	70345505	NC_000023.10:g.70345505C>G	-
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)	9968	MED12	Uncertain significance	-1	RCV002624946;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345521	70345521	NC_000023.10:g.70345521G>A	-
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)	9968	MED12	Uncertain significance	1602297729	RCV000792725;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345524	70345524	X:g.70345524C>T	-
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)	9968	MED12	Conflicting interpretations of pathogenicity	2092301217	RCV001544967\|RCV002570667\|RCV003298923;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70345525	70345525	70345525	-
NM_005120.3(MED12):c.2395C>T (p.Leu799=)	9968	MED12	Likely benign	1280842063	RCV001429678;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345536	70345536	X:g.70345536C>T	-
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)	9968	MED12	Uncertain significance	-1	RCV002962302;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345552	70345552	NC_000023.10:g.70345552T>G	-
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)	9968	MED12	Benign	747413033	RCV001516763;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345554	70345554	X:g.70345554A>C	-
NM_005120.3(MED12):c.2422+6T>G	9968	MED12	Uncertain significance	1569481413	RCV000693807;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345569	70345569	X:g.70345569T>G	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2422+16C>A	9968	MED12	Benign	774516868	RCV001670206\|RCV002539669;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345579	70345579	70345579	-
NM_005120.3(MED12):c.2422+30C>T	9968	MED12	Benign	2075790	RCV000244546\|RCV001711561\|RCV001775735\|RCV001775736\|RCV001775737;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70345593	70345593	X:g.70345593C>T	ClinGen:CA10444356	CN169374 not specified;
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala)	9968	MED12	Likely benign	752847512	RCV001396183\|RCV001581118;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70345892	70345892	70345892	-
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)	9968	MED12	not provided	762905361	RCV000239397;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345907	70345907	NC_000023.10:g.70345907G>A	ClinGen:CA10444365	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2450G>A (p.Arg817His)	9968	MED12	Uncertain significance	749801457	RCV000791861\|RCV002535854\|RCV003228988;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	X	70345913	70345913	X:g.70345913G>A	-
NM_005120.3(MED12):c.2451C>A (p.Arg817=)	9968	MED12	Likely benign	2147795617	RCV002168937;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345914	70345914	70345914	-
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)	9968	MED12	Uncertain significance	1192740859	RCV001220840;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345919	70345919	X:g.70345919G>A	-
NM_005120.3(MED12):c.2457G>A (p.Arg819=)	9968	MED12	Likely benign	2147795650	RCV002071676;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345920	70345920	70345920	-
NM_005120.3(MED12):c.2466C>T (p.Ala822=)	9968	MED12	Likely benign	2147795665	RCV002161710;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345929	70345929	70345929	-
NM_005120.3(MED12):c.2469C>T (p.Phe823=)	9968	MED12	Likely benign	2147795677	RCV002122055;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345932	70345932	70345932	-
NM_005120.3(MED12):c.2478T>C (p.Ala826=)	9968	MED12	Likely benign	2147795724	RCV002190212;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345941	70345941	70345941	-
NM_005120.3(MED12):c.2481A>G (p.Glu827=)	9968	MED12	Likely benign	2147795738	RCV002101364;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345944	70345944	70345944	-
NM_005120.3(MED12):c.2484T>C (p.Asp828=)	9968	MED12	Benign	781733323	RCV001516908;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345947	70345947	70345947	-
NM_005120.3(MED12):c.2529G>C (p.Gln843His)	9968	MED12	Uncertain significance	2147795833	RCV002021233\|RCV003402064;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|	X	70345992	70345992	70345992	-
NM_005120.3(MED12):c.2535G>A (p.Thr845=)	9968	MED12	Likely benign	915335433	RCV001494359;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345998	70345998	X:g.70345998G>A	-
NM_005120.3(MED12):c.2535G>C (p.Thr845=)	9968	MED12	Likely benign	915335433	RCV002139587;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70345998	70345998	70345998	-
NM_005120.3(MED12):c.2541+13G>C	9968	MED12	Likely benign	2147795910	RCV002091746;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346017	70346017	70346017	-
NM_005120.3(MED12):c.2542-5A>G	9968	MED12	Likely benign	777247768	RCV001439393;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346186	70346186	70346186	-
NM_005120.3(MED12):c.2542-4T>G	9968	MED12	Uncertain significance	2147796325	RCV001889460;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346187	70346187	70346187	-
NM_005120.3(MED12):c.2544C>A (p.Val848=)	9968	MED12	Likely benign	1204827056	RCV002119304;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346193	70346193	70346193	-
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)	9968	MED12	Uncertain significance	1135401775	RCV000496123;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776	X	70346194	70346194	X:g.70346194T>C	ClinGen:CA413515683	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)	9968	MED12	Uncertain significance	2092303365	RCV001208256\|RCV002510587;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776	X	70346198	70346198	X:g.70346198G>A	-
NM_005120.3(MED12):c.2559G>A (p.Leu853=)	9968	MED12	Uncertain significance	2147796383	RCV002014837;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346208	70346208	70346208	-
NM_005120.3(MED12):c.2568C>T (p.Ile856=)	9968	MED12	Benign	-1	RCV002646538;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346217	70346217		-
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)	9968	MED12	Uncertain significance	-1	RCV002304991\|RCV002427766;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70346219	70346219	70346219	-
NM_005120.3(MED12):c.2571G>C (p.Thr857=)	9968	MED12	Likely benign	368090262	RCV000633696;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346220	70346220	NC_000023.10:g.70346220G>C	ClinGen:CA516819009	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2613G>A (p.Gln871=)	9968	MED12	Conflicting interpretations of pathogenicity	372344160	RCV000726879\|RCV001088366\|RCV002315888;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70346262	70346262	X:g.70346262G>A	ClinGen:CA10444381	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.2619G>A (p.Val873=)	9968	MED12	Likely benign	763140070	RCV002095947;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346268	70346268	70346268	-
NM_005120.3(MED12):c.2631C>T (p.Phe877=)	9968	MED12	Likely benign	751190759	RCV001403725\|RCV003170013;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70346280	70346280	70346280	-
NM_005120.3(MED12):c.2649A>G (p.Ser883=)	9968	MED12	Likely benign	-1	RCV003056891;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346298	70346298		-
NM_005120.3(MED12):c.2663dup (p.Leu889fs)	9968	MED12	not provided	2147796613	RCV001580304;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346310	70346311	70346310	-
NM_005120.3(MED12):c.2667C>T (p.Leu889=)	9968	MED12	Likely benign	-1	RCV003076019;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346316	70346316		-
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)	9968	MED12	not provided	2147796647	RCV001580305;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346318	70346318	70346318	-
NM_005120.3(MED12):c.2670C>T (p.Ile890=)	9968	MED12	Likely benign	1602298322	RCV001497464;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346319	70346319	X:g.70346319C>T	-
NM_005120.3(MED12):c.2685+6G>A	9968	MED12	Uncertain significance	2147796689	RCV001878458;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346340	70346340	70346340	-
NM_005120.3(MED12):c.2685+17G>T	9968	MED12	Benign	767584131	RCV002078386;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346351	70346351	70346351	-
NM_005120.3(MED12):c.2685+20G>A	9968	MED12	Benign	-1	RCV003051321;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346354	70346354	NC_000023.10:g.70346354G>A	-
NM_005120.3(MED12):c.2686-20A>T	9968	MED12	Likely benign	-1	RCV002714954;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346799	70346799	NC_000023.10:g.70346799A>T	-
NM_005120.3(MED12):c.2686-17C>G	9968	MED12	Likely benign	-1	RCV003069563;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346802	70346802	NC_000023.10:g.70346802C>G	-
NM_005120.3(MED12):c.2686-15C>T	9968	MED12	Benign	200842589	RCV002113802;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346804	70346804	70346804	-
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)	9968	MED12	not provided	2147797665	RCV001580306;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346825	70346825	70346825	-
NM_005120.3(MED12):c.2698C>T (p.Leu900=)	9968	MED12	Likely benign	1470081405	RCV000875215\|RCV002427204;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70346831	70346831	X:g.70346831C>T	-
NM_005120.3(MED12):c.2721G>A (p.Leu907=)	9968	MED12	Benign	757010467	RCV001515769;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346854	70346854	70346854	-
NM_005120.3(MED12):c.2727C>T (p.Leu909=)	9968	MED12	Benign	-1	RCV002994908;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346860	70346860		-
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)	9968	MED12	Pathogenic	2147797835	RCV001580307\|RCV003442892;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70346868	70346868	70346868	-
NM_005120.3(MED12):c.2748C>A (p.Gly916=)	9968	MED12	Benign/Likely benign	768686458	RCV000608542\|RCV002066630;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346881	70346881	X:g.70346881C>A	ClinGen:CA10444400	CN169374 not specified;
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)	9968	MED12	Uncertain significance	-1	RCV002904519;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346892	70346892	NC_000023.10:g.70346892C>T	-
NM_005120.3(MED12):c.2778C>T (p.Ile926=)	9968	MED12	Benign	-1	RCV003062881;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346911	70346911		-
NM_005120.3(MED12):c.2784T>G (p.Ala928=)	9968	MED12	Likely benign	1431106485	RCV001468973\|RCV002439115;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70346917	70346917	70346917	-
NM_005120.3(MED12):c.2786T>A (p.Val929Asp)	9968	MED12	not provided	2147798220	RCV001580308;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346919	70346919	70346919	-
NM_005120.3(MED12):c.2817C>T (p.Leu939=)	9968	MED12	Likely benign	-1	RCV002833081;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346950	70346950		-
NM_005120.3(MED12):c.2823G>A (p.Gln941=)	9968	MED12	Likely benign	-1	RCV003060984;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346956	70346956		-
NM_005120.3(MED12):c.2835A>G (p.Ala945=)	9968	MED12	Likely benign	-1	RCV002880346;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346968	70346968		-
NM_005120.3(MED12):c.2849+11C>G	9968	MED12	Likely benign	755525809	RCV002183386;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346993	70346993	70346993	-
NM_005120.3(MED12):c.2849+14C>T	9968	MED12	Conflicting interpretations of pathogenicity	398124196	RCV000081259\|RCV002483145\|RCV002514434;	N	MedGen:CN517202\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OM	X	70346996	70346996	X:g.70346996C>T	ClinGen:CA222837	CN169374 not specified;
NM_005120.3(MED12):c.2849+15G>A	9968	MED12	Likely benign	-1	RCV002994452;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70346997	70346997	NC_000023.10:g.70346997G>A	-
NM_005120.3(MED12):c.2850-13C>T	9968	MED12	Likely benign	1199760146	RCV002087392;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347173	70347173	70347173	-
NM_005120.3(MED12):c.2850-7C>G	9968	MED12	Conflicting interpretations of pathogenicity	1556336208	RCV000610014\|RCV001350516;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347179	70347179	X:g.70347179C>G	ClinGen:CA658799782	CN169374 not specified;
NM_005120.3(MED12):c.2850G>T (p.Gly950=)	9968	MED12	Uncertain significance	-1	RCV002586691;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347186	70347186		-
NM_005120.3(MED12):c.2859C>T (p.Gly953=)	9968	MED12	Likely benign	930308384	RCV002190502;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347195	70347195	70347195	-
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)	9968	MED12	Uncertain significance	-1	RCV002922958;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347196	70347196	NC_000023.10:g.70347196G>A	-
NM_005120.3(MED12):c.2861T>G (p.Val954Gly)	9968	MED12	not provided	2147799283	RCV001580309;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347197	70347197	70347197	-
NM_005120.3(MED12):c.2862C>T (p.Val954=)	9968	MED12	Likely benign	748251157	RCV001492215;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347198	70347198	X:g.70347198C>T	-
NM_005120.3(MED12):c.2871T>C (p.His957=)	9968	MED12	Likely benign	1602298730	RCV001488986;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347207	70347207	X:g.70347207T>C	-
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)	9968	MED12	not provided	397515554	RCV000055909;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347209	70347209	X:g.70347209G>A	ClinGen:CA345020	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	9968	MED12	Pathogenic/Likely pathogenic	80338758	RCV000012276\|RCV000415294\|RCV000763632\|RCV001330015\|RCV001528259\|RCV001261368\|RCV001266857;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|6 conditions\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520,Or	X	70347217	70347217	X:g.70347217C>T	ClinGen:CA324786,UniProtKB:Q93074#VAR_033112,OMIM:300188.0001	C0424503 Abnormal facial shape;
NM_005120.3(MED12):c.2886C>T (p.Ser962=)	9968	MED12	Benign	34761462	RCV000153479\|RCV000229119\|RCV000618419\|RCV000719189;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN230736\|MedGen:C2711754	X	70347222	70347222	X:g.70347222C>T	ClinGen:CA295626	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)	9968	MED12	Uncertain significance	2147799414	RCV001947711\|RCV003407945;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|	X	70347230	70347230	70347230	-
NM_005120.3(MED12):c.2895C>T (p.Ser965=)	9968	MED12	Likely benign	1060504496	RCV000458188\|RCV001428666\|RCV002436496;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70347231	70347231	NC_000023.10:g.70347231C>T	ClinGen:CA16616700	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)	9968	MED12	Uncertain significance	-1	RCV003039841;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347235	70347235	NC_000023.10:g.70347235G>A	-
NM_005120.3(MED12):c.2919T>C (p.Ala973=)	9968	MED12	Likely benign	-1	RCV003105035;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347255	70347255		-
NM_005120.3(MED12):c.2937C>T (p.Tyr979=)	9968	MED12	Likely benign	758935114	RCV001442546;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347273	70347273	X:g.70347273C>T	-
NM_005120.3(MED12):c.2964A>G (p.Lys988=)	9968	MED12	Likely benign	1346914696	RCV001472185;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347300	70347300	70347300	-
NM_005120.3(MED12):c.2981+13G>A	9968	MED12	Benign	73214870	RCV000197322\|RCV002054308;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347330	70347330	X:g.70347330G>A	ClinGen:CA321778	CN169374 not specified;
NM_005120.3(MED12):c.2982-20C>T	9968	MED12	Likely benign	773211847	RCV001197839\|RCV002069287;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347723	70347723	X:g.70347723C>T	-
NM_005120.3(MED12):c.2982-14C>T	9968	MED12	Uncertain significance	-1	RCV003049325;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347729	70347729	NC_000023.10:g.70347729C>T	-
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)	9968	MED12	Uncertain significance	-1	RCV003048371;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347769	70347769	NC_000023.10:g.70347769C>T	-
NM_005120.3(MED12):c.3012C>T (p.Ile1004=)	9968	MED12	Benign	775829185	RCV000866328\|RCV001759648;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70347773	70347773	X:g.70347773C>T	-
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	9968	MED12	Pathogenic	80338759	RCV000012277\|RCV001529623\|RCV001580265;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347781	70347781	X:g.70347781A>G	ClinGen:CA341094,UniProtKB:Q93074#VAR_037534,OMIM:300188.0002	C0796022 309520 X-linked mental retardation with marfanoid habitus syndrome;
NM_005120.3(MED12):c.3039A>C (p.Ser1013=)	9968	MED12	Likely benign	-1	RCV003104316;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347800	70347800		-
NM_005120.3(MED12):c.3063C>T (p.Phe1021=)	9968	MED12	Likely benign	797045698	RCV001406350\|RCV002446883;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70347824	70347824	NC_000023.10:g.70347824C>T	ClinGen:CA16616698	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)	9968	MED12	Uncertain significance	879255526	RCV000239400\|RCV003133195\|RCV003165677;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70347828	70347828	X:g.70347828A>G	ClinGen:CA10586139	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3069C>A (p.Ile1023=)	9968	MED12	Likely benign	753751305	RCV001481130;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347830	70347830	70347830	-
NM_005120.3(MED12):c.3069C>T (p.Ile1023=)	9968	MED12	Likely benign	753751305	RCV001497240;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347830	70347830	70347830	-
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met)	9968	MED12	Uncertain significance	753751305	RCV002008602;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347830	70347830	70347830	-
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn)	9968	MED12	Uncertain significance	1469572055	RCV001886342;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347831	70347831	70347831	-
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala)	9968	MED12	Uncertain significance	2147800946	RCV002038173;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347870	70347870	70347870	-
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met)	9968	MED12	Uncertain significance	377078179	RCV000808894\|RCV001759556;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70347871	70347871	X:g.70347871C>T	-
NM_005120.3(MED12):c.3111G>A (p.Thr1037=)	9968	MED12	Benign/Likely benign	185658730	RCV001515211\|RCV001581167;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70347872	70347872	70347872	-
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn)	9968	MED12	Uncertain significance	1556336419	RCV000540437;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347886	70347886	X:g.70347886G>A	ClinGen:CA413517469	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3149G>A (p.Arg1050His)	9968	MED12	Likely benign	1228685555	RCV001057698;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347910	70347910	X:g.70347910G>A	-
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser)	9968	MED12	Uncertain significance	2147801044	RCV001899673;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347924	70347924	70347924	-
NM_005120.3(MED12):c.3192G>A (p.Gly1064=)	9968	MED12	Likely benign	932149153	RCV001432525;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347953	70347953	70347953	-
NM_005120.3(MED12):c.3195C>T (p.His1065=)	9968	MED12	Likely benign	-1	RCV002694841;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347956	70347956		-
NM_005120.3(MED12):c.3201T>A (p.Asp1067Glu)	9968	MED12	Likely benign	758288118	RCV002178385;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347962	70347962	70347962	-
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)	9968	MED12	Benign/Likely benign	201807437	RCV000225707\|RCV000253625\|RCV000230552\|RCV000721024;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C2711754	X	70347965	70347965	X:g.70347965C>T	ClinGen:CA234255	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.3209+7G>T	9968	MED12	Uncertain significance	2147801168	RCV002001100;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70347977	70347977	70347977	-
NM_005120.3(MED12):c.3210-20G>A	9968	MED12	Likely benign	1032124326	RCV002009404;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348126	70348126	70348126	-
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)	9968	MED12	Uncertain significance	863223704	RCV000197058\|RCV001295956;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348146	70348146	X:g.70348146G>T	ClinGen:CA321499	CN169374 not specified;
NM_005120.3(MED12):c.3219C>T (p.Asp1073=)	9968	MED12	Conflicting interpretations of pathogenicity	1266845318	RCV000593530\|RCV001087694;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348155	70348155	X:g.70348155C>T	ClinGen:CA516819327	CN169374 not specified;
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val)	9968	MED12	Uncertain significance	2092308336	RCV001352023;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348156	70348156	70348156	-
NM_005120.3(MED12):c.3222C>T (p.Ile1074=)	9968	MED12	Likely benign	374156594	RCV000863756\|RCV001088377\|RCV002313382;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70348158	70348158	X:g.70348158C>T	ClinGen:CA10444471	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)	9968	MED12	Uncertain significance	-1	RCV003025912;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348158	70348158	NC_000023.10:g.70348158C>G	-
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)	9968	MED12	Conflicting interpretations of pathogenicity	-1	RCV002445505\|RCV003099313;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348159	70348159	70348159	-
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)	9968	MED12	not provided	2147802318	RCV001580310;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348207	70348207	70348207	-
NM_005120.3(MED12):c.3288T>G (p.Leu1096=)	9968	MED12	Likely benign	1167877198	RCV000868014\|RCV001475895;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348224	70348224	X:g.70348224T>G	-
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)	9968	MED12	Uncertain significance	-1	RCV003032336;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348232	70348232	NC_000023.10:g.70348232T>C	-
NM_005120.3(MED12):c.3297G>A (p.Leu1099=)	9968	MED12	Likely benign	-1	RCV002630738;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348233	70348233		-
NM_005120.3(MED12):c.3333C>T (p.Asn1111=)	9968	MED12	Likely benign	781289776	RCV001397864\|RCV002322384;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70348269	70348269	70348269	-
NM_005120.3(MED12):c.3354+27G>C	9968	MED12	Benign	5030617	RCV000253275\|RCV001711701\|RCV001775738\|RCV001775739\|RCV001775740;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70348317	70348317	NC_000023.10:g.70348317G>C	ClinGen:CA10444477	CN169374 not specified;
NM_005120.3(MED12):c.3355-16_3355-13del	9968	MED12	Likely benign	1556336608	RCV002251375\|RCV002529695;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348425	70348428	X:g.70348425_70348428del	ClinGen:CA658799784	CN169374 not specified;
NM_005120.3(MED12):c.3355-8dup	9968	MED12	Benign/Likely benign	750373111	RCV001722407\|RCV002063807;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348434	70348435	X:g.70348434_70348435insT	ClinGen:CA10444487	CN169374 not specified;
NM_005120.3(MED12):c.3355-14G>T	9968	MED12	Benign	-1	RCV002730362;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348434	70348434	NC_000023.10:g.70348434G>T	-
NM_005120.3(MED12):c.3357C>T (p.Val1119=)	9968	MED12	Benign/Likely benign	773679943	RCV001520468\|RCV002313391;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70348450	70348450	X:g.70348450C>T	ClinGen:CA10444490	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.3381G>T (p.Ser1127=)	9968	MED12	Benign/Likely benign	369946933	RCV001510145\|RCV002458495;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70348474	70348474	70348474	-
NM_005120.3(MED12):c.3381G>A (p.Ser1127=)	9968	MED12	Likely benign	369946933	RCV002218272;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348474	70348474	70348474	-
NM_005120.3(MED12):c.3393T>C (p.Phe1131=)	9968	MED12	Likely benign	-1	RCV002932022;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348486	70348486		-
NM_005120.3(MED12):c.3399C>T (p.Ala1133=)	9968	MED12	Likely benign	1042095169	RCV002091742;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348492	70348492	70348492	-
NM_005120.3(MED12):c.3408C>T (p.Ile1136=)	9968	MED12	Likely benign	756127182	RCV001396558;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348501	70348501	70348501	-
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr)	9968	MED12	Uncertain significance	1317457286	RCV001295993;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348502	70348502	70348502	-
NM_005120.3(MED12):c.3412C>A (p.Arg1138=)	9968	MED12	Likely benign	1057523906	RCV000442770\|RCV001851072;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348505	70348505	X:g.70348505C>A	ClinGen:CA16608984	CN169374 not specified;
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	9968	MED12	Conflicting interpretations of pathogenicity	1057523906	RCV001580311\|RCV001837548\|RCV003152766\|RCV002287504;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70348505	70348505	70348505	-
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)	9968	MED12	Benign	-1	RCV002972171;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348519	70348519		-
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)	9968	MED12	Uncertain significance	-1	RCV002297812;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348523	70348523	70348523	-
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	9968	MED12	Pathogenic	387907360	RCV000043499\|RCV001268310\|RCV001580266;	N	MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348536	70348536	X:g.70348536G>A	ClinGen:CA143730,UniProtKB:Q93074#VAR_069770,OMIM:300188.0003	C3698541 300895 Ohdo syndrome, X-linked;
NM_005120.3(MED12):c.3476-20C>G	9968	MED12	Likely benign	-1	RCV002591849;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348944	70348944	NC_000023.10:g.70348944C>G	-
NC_000023.10:g.(?_70348944)_(70350084_?)dup	9968	MED12	Uncertain significance	-1	RCV003116313;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348944	70350084		-
NC_000023.10:g.(?_70348958)_(70350070_?)dup	9968	MED12	Uncertain significance	-1	RCV001314248;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348958	70350070	-1	-
NC_000023.10:g.(?_70348964)_(70350064_?)dup	9968	MED12	Uncertain significance	-1	RCV000465539;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348964	70350064		-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3480T>C (p.Cys1160=)	9968	MED12	Likely benign	1463883892	RCV001732187\|RCV001472354;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348968	70348968	70348968	-
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)	9968	MED12	Benign/Likely benign	-1	RCV002457385\|RCV003099515;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348971	70348971		-
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)	9968	MED12	Pathogenic	387907361	RCV000043500\|RCV001580267;	N	MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348981	70348981	X:g.70348981T>C	ClinGen:CA143731,UniProtKB:Q93074#VAR_069771,OMIM:300188.0004	C3698541 300895 Ohdo syndrome, X-linked;
NM_005120.3(MED12):c.3498G>A (p.Glu1166=)	9968	MED12	Likely benign	1556336751	RCV000633698;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348986	70348986	NC_000023.10:g.70348986G>A	ClinGen:CA516721174	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)	9968	MED12	Likely pathogenic	1602299778	RCV000824877\|RCV002279965;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70348993	70348993	X:g.70348993G>T	-
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp)	9968	MED12	Uncertain significance	1389138246	RCV001338664;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70348996	70348996	70348996	-
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln)	9968	MED12	Uncertain significance	2147804813	RCV002568982\|RCV001551365;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70348997	70348997	70348997	-
NM_005120.3(MED12):c.3516C>G (p.Thr1172=)	9968	MED12	Likely benign	1057521581	RCV000432991\|RCV002065044;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349004	70349004	X:g.70349004C>G	ClinGen:CA16609209	CN169374 not specified;
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg)	9968	MED12	Uncertain significance	2147804938	RCV002042083;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349054	70349054	70349054	-
NM_005120.3(MED12):c.3567G>T (p.Gln1189His)	9968	MED12	Benign	2147804945	RCV002155131;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349055	70349055	70349055	-
NM_005120.3(MED12):c.3577+12T>C	9968	MED12	Likely benign	-1	RCV002993585;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349077	70349077	NC_000023.10:g.70349077T>C	-
NM_005120.3(MED12):c.3578-11G>A	9968	MED12	Likely benign	-1	RCV002592835;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349155	70349155	NC_000023.10:g.70349155G>A	-
NM_005120.3(MED12):c.3582G>A (p.Lys1194=)	9968	MED12	Likely benign	1060504499	RCV000477623;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349170	70349170	NC_000023.10:g.70349170G>A	ClinGen:CA16616701	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)	9968	MED12	Uncertain significance	1556336812	RCV000633689;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349175	70349175	NC_000023.10:g.70349175C>A	ClinGen:CA413520083	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)	9968	MED12	Uncertain significance	-1	RCV003104927;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349193	70349193	NC_000023.10:g.70349193C>A	-
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)	9968	MED12	Uncertain significance	-1	RCV002932138;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349193	70349193	NC_000023.10:g.70349193C>G	-
NM_005120.3(MED12):c.3609C>T (p.Cys1203=)	9968	MED12	Benign	751742488	RCV001721828\|RCV002539732;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349197	70349197	70349197	-
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val)	9968	MED12	Uncertain significance	2092311035	RCV001913621;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349207	70349207	70349207	-
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)	9968	MED12	Uncertain significance	2092311077	RCV001253333\|RCV001580312\|RCV003373090;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123	X	70349228	70349228	X:g.70349228C>T	-
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)	9968	MED12	Uncertain significance	2092311084	RCV001225025\|RCV003129741;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70349229	70349229	X:g.70349229G>A	-
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	9968	MED12	Pathogenic/Likely pathogenic	2147805923	RCV001566891\|RCV001580313\|RCV002283551\|RCV003128434;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|	X	70349234	70349234	70349234	-
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)	9968	MED12	not provided	2147805960	RCV001580314;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349241	70349241	70349241	-
NM_005120.3(MED12):c.3654A>G (p.Gly1218=)	9968	MED12	Likely benign	-1	RCV002780353;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349242	70349242		-
NM_005120.3(MED12):c.3657C>T (p.Ala1219=)	9968	MED12	Likely benign	-1	RCV003060798;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349245	70349245		-
NM_005120.3(MED12):c.3658G>A (p.Val1220Met)	9968	MED12	Uncertain significance	1236099919	RCV002036879;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349246	70349246	70349246	-
NM_005120.3(MED12):c.3691+4C>T	9968	MED12	Conflicting interpretations of pathogenicity	373381746	RCV000476695\|RCV000610539;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN169374	X	70349283	70349283	NC_000023.10:g.70349283C>T	ClinGen:CA10444528	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3691+9dup	9968	MED12	Benign	966516434	RCV001346455;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349283	70349284	70349283	-
NM_005120.3(MED12):c.3691+9G>A	9968	MED12	Uncertain significance	-1	RCV002928893;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349288	70349288	NC_000023.10:g.70349288G>A	-
NM_005120.3(MED12):c.3692-20C>T	9968	MED12	Likely benign	-1	RCV002574109;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349510	70349510	NC_000023.10:g.70349510C>T	-
NM_005120.3(MED12):c.3692-16C>T	9968	MED12	Likely benign	2147807080	RCV002082071;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349514	70349514	70349514	-
NM_005120.3(MED12):c.3692-14C>T	9968	MED12	Likely benign	747228964	RCV002116252;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349516	70349516	70349516	-
NM_005120.3(MED12):c.3692-12C>T	9968	MED12	Likely benign	1343656787	RCV002126597;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349518	70349518	70349518	-
NM_005120.3(MED12):c.3692-11G>A	9968	MED12	Likely benign	773008879	RCV001589724\|RCV002070418;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349519	70349519	70349519	-
NM_005120.3(MED12):c.3692-7A>G	9968	MED12	Uncertain significance	1014804538	RCV001330017\|RCV001871805;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349523	70349523	70349523	-
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)	9968	MED12	Conflicting interpretations of pathogenicity	965896553	RCV000698988\|RCV003344009;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70349531	70349531	X:g.70349531G>T	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)	9968	MED12	Benign/Likely benign	184162709	RCV000468386\|RCV001712225\|RCV002356549;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70349537	70349537	X:g.70349537G>A	ClinGen:CA10444544	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)	9968	MED12	Conflicting interpretations of pathogenicity	1028631372	RCV000816484\|RCV003437436;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70349559	70349559	X:g.70349559A>G	-
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)	9968	MED12	Uncertain significance	-1	RCV002616439;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349566	70349566	NC_000023.10:g.70349566C>T	-
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)	9968	MED12	Benign	-1	RCV002647522;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349574	70349574	NC_000023.10:g.70349574A>G	-
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe)	9968	MED12	Conflicting interpretations of pathogenicity	1422779785	RCV000552501\|RCV001770414;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70349583	70349583	X:g.70349583C>T	ClinGen:CA413522203	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp)	9968	MED12	Uncertain significance	1350628654	RCV001982546;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349597	70349597	70349597	-
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del)	9968	MED12	Uncertain significance	1602300077	RCV000793086\|RCV002343649;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70349598	70349600	X:g.70349598_70349600del	-
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)	9968	MED12	Uncertain significance	776373565	RCV000798859;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349607	70349607	X:g.70349607G>A	-
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val)	9968	MED12	Uncertain significance	2147807429	RCV001363712\|RCV001555054;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70349617	70349617	70349617	-
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)	9968	MED12	Uncertain significance	-1	RCV002680988;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349619	70349619	NC_000023.10:g.70349619C>T	-
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln)	9968	MED12	Conflicting interpretations of pathogenicity	1388327076	RCV001317983\|RCV003332321;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70349620	70349620	70349620	-
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)	9968	MED12	Conflicting interpretations of pathogenicity	202120461	RCV002055290\|RCV000117596;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70349623	70349623	NC_000023.10:g.70349623G>A	ClinGen:CA231286	CN517202 not provided;
NM_005120.3(MED12):c.3789G>C (p.Gln1263His)	9968	MED12	Likely benign	-1	RCV003002726;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349627	70349627	NC_000023.10:g.70349627G>C	-
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)	9968	MED12	Uncertain significance	1060502168	RCV000469040\|RCV003298486;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70349634	70349634	NC_000023.10:g.70349634C>T	ClinGen:CA16616522	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)	9968	MED12	Conflicting interpretations of pathogenicity	587780391	RCV000117599\|RCV001513935;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349635	70349635	X:g.70349635G>A	ClinGen:CA231288	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3797_3798delinsAT (p.Arg1266His)	9968	MED12	Likely benign	2147807577	RCV002172104;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349635	70349636	70349635	-
NM_005120.3(MED12):c.3800A>G (p.Asn1267Ser)	9968	MED12	Likely benign	-1	RCV002994184;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349638	70349638	NC_000023.10:g.70349638A>G	-
NM_005120.3(MED12):c.3802A>G (p.Ile1268Val)	9968	MED12	Likely benign	-1	RCV003074060;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349640	70349640	NC_000023.10:g.70349640A>G	-
NM_005120.3(MED12):c.3807T>C (p.Ser1269=)	9968	MED12	Likely benign	1319771105	RCV002205419;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349645	70349645	70349645	-
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly)	9968	MED12	Uncertain significance	2147807641	RCV001879083;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349658	70349658	70349658	-
NM_005120.3(MED12):c.3823C>T (p.Leu1275=)	9968	MED12	Likely benign	-1	RCV002613738;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349661	70349661		-
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)	9968	MED12	Likely benign	369268877	RCV000426230\|RCV002061431\|RCV002365470;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70349681	70349681	X:g.70349681C>T	ClinGen:CA10444554	CN169374 not specified;
NM_005120.3(MED12):c.3849G>T (p.Leu1283=)	9968	MED12	Likely benign	377409217	RCV001403690;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349687	70349687	NC_000023.10:g.70349687G>T	ClinGen:CA10444555	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.3864A>G (p.Gln1288=)	9968	MED12	Likely benign	370431544	RCV002112987;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349702	70349702	70349702	-
NM_005120.3(MED12):c.3867+10_3867+11del	9968	MED12	Likely benign	2147807790	RCV001486833;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349714	70349715	70349713	-
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)	9968	MED12	Conflicting interpretations of pathogenicity	863223706	RCV000196935\|RCV001580315\|RCV002255134;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776	X	70349900	70349900	NC_000023.10:g.70349900C>T	ClinGen:CA321357	CN169374 not specified;
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)	9968	MED12	Conflicting interpretations of pathogenicity	1556337063	RCV000624336\|RCV001731816\|RCV001580316;	N	MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349901	70349901	X:g.70349901G>A	ClinGen:CA413522935	C0950123 Inborn genetic diseases;
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)	9968	MED12	Likely benign	372389957	RCV000829098\|RCV001089028\|RCV002352484;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70349935	70349935	X:g.70349935C>T	-
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)	9968	MED12	Uncertain significance	-1	RCV002982966;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349936	70349936	NC_000023.10:g.70349936C>G	-
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)	9968	MED12	Benign	5030619	RCV000081261\|RCV000621594\|RCV000715259\|RCV000860367\|RCV001775574\|RCV001775575;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:C2711754\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70349947	70349947	X:g.70349947A>C	ClinGen:CA285642	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)	9968	MED12	not provided	2147808490	RCV001580317;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349949	70349949	70349949	-
NM_005120.3(MED12):c.3934T>C (p.Leu1312=)	9968	MED12	Likely benign	1406760316	RCV000868488;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349951	70349951	X:g.70349951T>C	-
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)	9968	MED12	not provided	2147808505	RCV001580318;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349952	70349952	70349952	-
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)	9968	MED12	Benign/Likely benign	3810670	RCV000528631\|RCV001698212\|RCV002313104\|RCV002502559;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415; MONDO:MONDO:0010655,MedGen:C079602	X	70349959	70349959	X:g.70349959T>C	ClinGen:CA10444568	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)	9968	MED12	Uncertain significance	2092313149	RCV001249625\|RCV001879756;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349963	70349963	X:g.70349963C>G	-
NM_005120.3(MED12):c.3951G>T (p.Ala1317=)	9968	MED12	Likely benign	755194632	RCV002184876;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349968	70349968	70349968	-
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)	9968	MED12	Uncertain significance	901783069	RCV001229323\|RCV001568622;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70349972	70349972	X:g.70349972C>T	-
NM_005120.3(MED12):c.3956G>A (p.Arg1319His)	9968	MED12	Conflicting interpretations of pathogenicity	1421325265	RCV001725821\|RCV002539773;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349973	70349973	70349973	-
NM_005120.3(MED12):c.3957C>A (p.Arg1319=)	9968	MED12	Likely benign	368549870	RCV002190547;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70349974	70349974	70349974	-
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly)	9968	MED12	Uncertain significance	766827969	RCV001052599\|RCV003307863;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70350002	70350002	X:g.70350002C>G	-
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp)	9968	MED12	Uncertain significance	2147808786	RCV001366409\|RCV003327510;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70350028	70350028	70350028	-
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu)	9968	MED12	Uncertain significance	757845624	RCV002001501;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350033	70350033	70350033	-
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)	9968	MED12	Uncertain significance	777250096	RCV000199133\|RCV000633693\|RCV000789018\|RCV002354551;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70350038	70350038	NC_000023.10:g.70350038C>T	ClinGen:CA323671	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)	9968	MED12	Uncertain significance	-1	RCV002640586\|RCV002640585\|RCV003443134;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70350039	70350039	NC_000023.10:g.70350039G>A	-
NM_005120.3(MED12):c.4028G>A (p.Arg1343His)	9968	MED12	Uncertain significance	201044355	RCV000203845;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350045	70350045	NC_000023.10:g.70350045G>A	ClinGen:CA348148	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)	9968	MED12	Uncertain significance	-1	RCV003064974;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350053	70350053	NC_000023.10:g.70350053C>T	-
NM_005120.3(MED12):c.4041T>C (p.Ile1347=)	9968	MED12	Benign/Likely benign	769884032	RCV002313383\|RCV002531827;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350058	70350058	X:g.70350058T>C	ClinGen:CA10444577	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.4044C>T (p.Leu1348=)	9968	MED12	Likely benign	367674919	RCV001486483;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350061	70350061	70350061	-
NM_005120.3(MED12):c.4047+14G>A	9968	MED12	Likely benign	774488297	RCV000454572\|RCV002522749;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350078	70350078	NC_000023.10:g.70350078G>A	ClinGen:CA10444581	CN169374 not specified;
NM_005120.3(MED12):c.4047+20G>A	9968	MED12	Likely benign	-1	RCV002996299;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70350084	70350084	NC_000023.10:g.70350084G>A	-
NM_005120.3(MED12):c.4048-11dup	9968	MED12	Likely benign	1213691583	RCV001564258\|RCV002070395;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351387	70351388	70351387	-
NM_005120.3(MED12):c.4048-3C>T	9968	MED12	Uncertain significance	-1	RCV002321247\|RCV003094495;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351397	70351397	70351397	-
NM_005120.3(MED12):c.4048-1G>A	9968	MED12	Likely pathogenic	2092317530	RCV001044680;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351399	70351399	X:g.70351399G>A	-
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)	9968	MED12	Pathogenic	2147811858	RCV001580319\|RCV001813828;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70351422	70351422	70351422	-
NM_005120.3(MED12):c.4074G>A (p.Gln1358=)	9968	MED12	Likely benign	2147811874	RCV002133053;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351426	70351426	70351426	-
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)	9968	MED12	Uncertain significance	-1	RCV002299847;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351428	70351428	70351428	-
NM_005120.3(MED12):c.4077T>G (p.Ser1359=)	9968	MED12	Benign	902073429	RCV002109066;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351429	70351429	70351429	-
NM_005120.3(MED12):c.4080C>T (p.Ser1360=)	9968	MED12	Likely benign	2147811888	RCV002122458;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351432	70351432	70351432	-
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)	9968	MED12	Uncertain significance	-1	RCV002842236;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351436	70351436	NC_000023.10:g.70351436G>C	-
NM_005120.3(MED12):c.4087C>T (p.Leu1363=)	9968	MED12	Likely benign	-1	RCV002589517;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351439	70351439		-
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	9968	MED12	Likely benign	587778437	RCV000121329\|RCV000228384\|RCV001697144\|RCV002321600\|RCV002492431;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C36	X	70351463	70351463	X:g.70351463C>T	ClinGen:CA160389	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)	9968	MED12	Benign/Likely benign	202009066	RCV000198940\|RCV001085906\|RCV002311057;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70351467	70351467	X:g.70351467A>G	ClinGen:CA323474	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.4120-11A>C	9968	MED12	Likely benign	773425479	RCV002076631;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351912	70351912	70351912	-
NM_005120.3(MED12):c.4120-7T>C	9968	MED12	Likely benign	2147813240	RCV002220906;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351916	70351916	70351916	-
NM_005120.3(MED12):c.4120-7T>A	9968	MED12	Likely benign	-1	RCV002811472;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351916	70351916	NC_000023.10:g.70351916T>A	-
NM_005120.3(MED12):c.4120-5C>T	9968	MED12	Likely benign	2147813260	RCV002088504;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351918	70351918	70351918	-
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)	9968	MED12	Uncertain significance	-1	RCV003057387;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351926	70351926	NC_000023.10:g.70351926A>G	-
NM_005120.3(MED12):c.4146C>T (p.Ile1382=)	9968	MED12	Likely benign	923552252	RCV001423277\|RCV001697950;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70351949	70351949	X:g.70351949C>T	ClinGen:CA330981596	CN169374 not specified;
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	9968	MED12	Conflicting interpretations of pathogenicity	863223696	RCV000195723\|RCV000239402\|RCV000622415\|RCV001808556\|RCV002051827;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776	X	70351950	70351950	X:g.70351950G>A	ClinGen:CA320088	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val)	9968	MED12	Uncertain significance	771349148	RCV000633688;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351957	70351957	NC_000023.10:g.70351957C>T	ClinGen:CA10444603	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	9968	MED12	Uncertain significance	1366165823	RCV000658234\|RCV001855368\|RCV002331288\|RCV002507144;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:30089	X	70351962	70351962	X:g.70351962A>G	-	CN517202 not provided;
NM_005120.3(MED12):c.4161C>T (p.Ile1387=)	9968	MED12	Benign/Likely benign	776947543	RCV001514572\|RCV002313379;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70351964	70351964	X:g.70351964C>T	ClinGen:CA10444604	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)	9968	MED12	Benign/Likely benign	376058351	RCV000194870\|RCV000247788\|RCV000466649\|RCV000716617\|RCV001088216;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351982	70351982	NC_000023.10:g.70351982A>C	ClinGen:CA211156	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)	9968	MED12	Uncertain significance	-1	RCV003008461;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351990	70351990	NC_000023.10:g.70351990C>T	-
NM_005120.3(MED12):c.4194A>G (p.Ser1398=)	9968	MED12	Likely benign	1319823223	RCV000864100;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351997	70351997	X:g.70351997A>G	-
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)	9968	MED12	Uncertain significance	-1	RCV002303654;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70351999	70351999	70351999	-
NM_005120.3(MED12):c.4197T>A (p.Ser1399=)	9968	MED12	Likely benign	1389363000	RCV001484724;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352000	70352000	X:g.70352000T>A	-
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn)	9968	MED12	Uncertain significance	2147813483	RCV002025250;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352011	70352011	70352011	-
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr)	9968	MED12	Uncertain significance	2147813494	RCV001878918\|RCV003442934;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70352013	70352013	70352013	-
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg)	9968	MED12	Uncertain significance	2092319173	RCV001308919;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352023	70352023	70352023	-
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly)	9968	MED12	Likely benign	961569982	RCV000791614;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352034	70352034	X:g.70352034A>G	-
NM_005120.3(MED12):c.4232G>A (p.Ser1411Asn)	9968	MED12	Likely benign	761320689	RCV001302066;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352035	70352035	70352035	-
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)	9968	MED12	Benign/Likely benign	759532414	RCV000459550\|RCV000514449\|RCV002329049;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70352041	70352041	NC_000023.10:g.70352041C>A	ClinGen:CA10444608	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4245T>C (p.Pro1415=)	9968	MED12	Likely benign	2147813683	RCV001432984;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352048	70352048	70352048	-
NM_005120.3(MED12):c.4253+4G>A	9968	MED12	Uncertain significance	750162341	RCV000633703\|RCV002252068\|RCV002311220;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70352060	70352060	X:g.70352060G>A	ClinGen:CA10444609	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.4253+16G>A	9968	MED12	Benign	185066241	RCV002074983;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352072	70352072	70352072	-
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro)	9968	MED12	Uncertain significance	2147814288	RCV001797342\|RCV002541307;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352228	70352228	70352228	-
NM_005120.3(MED12):c.4260A>G (p.Leu1420=)	9968	MED12	Likely benign	34299769	RCV001397453;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352233	70352233	70352233	-
NM_005120.3(MED12):c.4290C>T (p.Pro1430=)	9968	MED12	Likely benign	2147814427	RCV001394408;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352263	70352263	70352263	-
NM_005120.3(MED12):c.4299T>C (p.Ala1433=)	9968	MED12	Benign/Likely benign	763359998	RCV000423797\|RCV001512463\|RCV002328986;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70352272	70352272	X:g.70352272T>C	ClinGen:CA10444626	CN169374 not specified;
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)	9968	MED12	Uncertain significance	-1	RCV003030439;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352301	70352301	NC_000023.10:g.70352301T>G	-
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu)	9968	MED12	Uncertain significance	2147814559	RCV001897215;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352316	70352316	70352316	-
NM_005120.3(MED12):c.4359G>A (p.Lys1453=)	9968	MED12	Benign/Likely benign	766087487	RCV001509984\|RCV002329649;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70352332	70352332	70352332	-
NM_005120.3(MED12):c.4380T>C (p.Ser1460=)	9968	MED12	Benign	377119772	RCV002189982;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352353	70352353	70352353	-
NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu)	9968	MED12	Uncertain significance	1458136598	RCV001374616;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352355	70352355	70352355	-
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)	9968	MED12	not provided	1488533087	RCV001580320;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352373	70352373	70352373	-
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)	9968	MED12	Uncertain significance	2092320033	RCV002266659;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70352386	70352386		-
NM_005120.3(MED12):c.4415+9G>A	9968	MED12	Likely benign	-1	RCV003059712;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352397	70352397	NC_000023.10:g.70352397G>A	-
NM_005120.3(MED12):c.4415+13A>C	9968	MED12	Likely benign	993419382	RCV002123312;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352401	70352401	70352401	-
NM_005120.3(MED12):c.4415+20G>A	9968	MED12	Likely benign	369776103	RCV002128795;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352408	70352408	70352408	-
NM_005120.3(MED12):c.4415+29T>C	9968	MED12	Benign	10521349	RCV000249822\|RCV000832624\|RCV001775742\|RCV001775743\|RCV001775741;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352417	70352417	NC_000023.10:g.70352417T>C	ClinGen:CA10444634	CN169374 not specified;
NM_005120.3(MED12):c.4416-77CTCTT[14]	9968	MED12	Benign	56658066	RCV000990862\|RCV001638030;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70352617	70352618	X:g.70352617_70352618insCTCTTCTCTT	-
NM_005120.3(MED12):c.4416-42_4416-9del	9968	MED12	Likely benign	-1	RCV002913562;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352646	70352679	NC_000023.10:g.70352653_70352686del	-
NM_005120.3(MED12):c.4416-20C>T	9968	MED12	Likely benign	-1	RCV002801010;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352675	70352675	NC_000023.10:g.70352675C>T	-
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC	9968	MED12	Likely benign	58328145	RCV002120247;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352679	70352680	70352679	-
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC	9968	MED12	Likely benign	-1	RCV002933475;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352679	70352680	NC_000023.10:g.70352679_70352680insCTTCTC	-
NM_005120.3(MED12):c.4416-15T>C	9968	MED12	Benign/Likely benign	770290521	RCV001677336\|RCV002073183;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352680	70352680	70352680	-
NM_005120.3(MED12):c.4416-8G>T	9968	MED12	Likely benign	770256156	RCV001549593\|RCV002568308;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352687	70352687	70352687	-
NM_005120.3(MED12):c.4416-6C>T	9968	MED12	Likely benign	775717904	RCV001500933;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352689	70352689	70352689	-
NM_005120.3(MED12):c.4425A>G (p.Leu1475=)	9968	MED12	Benign/Likely benign	370211858	RCV000553828\|RCV001653890\|RCV002330842;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70352704	70352704	X:g.70352704A>G	ClinGen:CA10444652	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)	9968	MED12	Likely pathogenic	-1	RCV003223492;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352718	70352718		-
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)	9968	MED12	Benign	-1	RCV002962284;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352728	70352728		-
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys)	9968	MED12	Uncertain significance	759105512	RCV002024289;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352765	70352765	70352765	-
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)	9968	MED12	Conflicting interpretations of pathogenicity	531754497	RCV000192683\|RCV000863032\|RCV001721258\|RCV002314833;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70352767	70352767	NC_000023.10:g.70352767C>T	ClinGen:CA205673	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.4488C>A (p.Arg1496=)	9968	MED12	Likely benign	-1	RCV003051983;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352767	70352767		-
NM_005120.3(MED12):c.4509C>T (p.Leu1503=)	9968	MED12	Likely benign	2147817069	RCV001581004\|RCV002573346;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352788	70352788	70352788	-
NM_005120.3(MED12):c.4512C>T (p.Tyr1504=)	9968	MED12	Likely benign	2092322482	RCV002213828;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352791	70352791	70352791	-
NM_005120.3(MED12):c.4527+11C>G	9968	MED12	Likely benign	2092322513	RCV002114383;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352817	70352817	70352817	-
NM_005120.3(MED12):c.4527+16C>T	9968	MED12	Likely benign	-1	RCV002791977;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352822	70352822	NC_000023.10:g.70352822C>T	-
NM_005120.3(MED12):c.4527+18A>T	9968	MED12	Likely benign	-1	RCV003090721;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352824	70352824	NC_000023.10:g.70352824A>T	-
NM_005120.3(MED12):c.4527+19T>C	9968	MED12	Likely benign	2092322558	RCV002159075;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352825	70352825	70352825	-
NM_005120.3(MED12):c.4528-20T>G	9968	MED12	Likely benign	1266001762	RCV002216431;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352953	70352953	70352953	-
NM_005120.3(MED12):c.4528-19T>C	9968	MED12	Benign/Likely benign	370859385	RCV000426669\|RCV002064927;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70352954	70352954	X:g.70352954T>C	ClinGen:CA10444669	CN169374 not specified;
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)	9968	MED12	Benign	-1	RCV002574017;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70353011	70353011		-
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)	9968	MED12	Uncertain significance	774937112	RCV001236830;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70353022	70353022	X:g.70353022A>G	-
NM_005120.3(MED12):c.4584T>C (p.Leu1528=)	9968	MED12	Likely benign	1220815401	RCV001462351;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70353029	70353029	70353029	-
NM_005120.3(MED12):c.4593G>A (p.Glu1531=)	9968	MED12	Likely benign	-1	RCV002577226;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70353038	70353038		-
NM_005120.3(MED12):c.4599C>G (p.Leu1533=)	9968	MED12	Likely benign	2092323060	RCV002161167;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70353044	70353044	70353044	-
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp)	9968	MED12	Uncertain significance	2092323072	RCV001890955\|RCV002553566;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123	X	70353051	70353051	70353051	-
NM_005120.3(MED12):c.4617+3G>A	9968	MED12	Uncertain significance	748647968	RCV002044040;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70353065	70353065	70353065	-
NM_005120.3(MED12):c.4618-19C>T	9968	MED12	Likely benign	-1	RCV003121731;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354188	70354188	NC_000023.10:g.70354188C>T	-
NM_005120.3(MED12):c.4620G>T (p.Val1540=)	9968	MED12	Likely benign	756385578	RCV001585444\|RCV002334627\|RCV002573335;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354209	70354209	70354209	-
NM_005120.3(MED12):c.4623G>A (p.Gly1541=)	9968	MED12	Likely benign	-1	RCV002717297;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354212	70354212		-
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)	9968	MED12	Uncertain significance	151316557	RCV002013185\|RCV002337122;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70354224	70354224	70354224	-
NM_005120.3(MED12):c.4638G>A (p.Thr1546=)	9968	MED12	Conflicting interpretations of pathogenicity	980389482	RCV001990985\|RCV002335007;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70354227	70354227	70354227	-
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)	9968	MED12	Uncertain significance	1375497967	RCV000799513;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354240	70354240	X:g.70354240A>G	-
NM_005120.3(MED12):c.4665G>A (p.Thr1555=)	9968	MED12	Benign/Likely benign	375001801	RCV000633706\|RCV001703721\|RCV002339015;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70354254	70354254	X:g.70354254G>A	ClinGen:CA10444685	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)	9968	MED12	Likely pathogenic	794727576	RCV000592576\|RCV001580321;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354258	70354258	NC_000023.10:g.70354258T>C	ClinGen:CA244701	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn)	9968	MED12	Uncertain significance	962560401	RCV001862030\|RCV002314519;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70354300	70354300	NC_000023.10:g.70354300G>A	-
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)	9968	MED12	Uncertain significance	-1	RCV003038890;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354309	70354309	NC_000023.10:g.70354309T>G	-
NM_005120.3(MED12):c.4727+18G>A	9968	MED12	Likely benign	-1	RCV003107034;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354334	70354334	NC_000023.10:g.70354334G>A	-
NM_005120.3(MED12):c.4728-10C>T	9968	MED12	Likely benign	1230205688	RCV002076338;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354553	70354553	70354553	-
NM_005120.3(MED12):c.4728-9C>T	9968	MED12	Likely benign	-1	RCV002593716;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354554	70354554	NC_000023.10:g.70354554C>T	-
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)	9968	MED12	Uncertain significance	-1	RCV003015844;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354563	70354563		-
NM_005120.3(MED12):c.4743T>A (p.Thr1581=)	9968	MED12	Likely benign	1296958553	RCV001941219;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354578	70354578	70354578	-
NM_005120.3(MED12):c.4761C>T (p.Ser1587=)	9968	MED12	Likely benign	369563649	RCV001400554\|RCV002341860;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70354596	70354596	70354596	-
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu)	9968	MED12	Uncertain significance	767396596	RCV001889537;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354597	70354597	70354597	-
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)	9968	MED12	Uncertain significance	-1	RCV002609873;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354597	70354597	NC_000023.10:g.70354597G>A	-
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser)	9968	MED12	Uncertain significance	2147822394	RCV002265083\|RCV003095982;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354607	70354607	70354607	-
NM_005120.3(MED12):c.4779A>G (p.Thr1593=)	9968	MED12	Likely benign	-1	RCV002899359;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354614	70354614		-
NM_005120.3(MED12):c.4806G>T (p.Ser1602=)	9968	MED12	Likely benign	755218771	RCV000529421;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354641	70354641	X:g.70354641G>T	ClinGen:CA330982660	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.4806G>A (p.Ser1602=)	9968	MED12	Benign	755218771	RCV001518682;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354641	70354641	70354641	-
NM_005120.3(MED12):c.4806G>C (p.Ser1602=)	9968	MED12	Likely benign	755218771	RCV002139321;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354641	70354641	70354641	-
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)	9968	MED12	Uncertain significance	-1	RCV002861414;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354651	70354651	NC_000023.10:g.70354651A>G	-
NM_005120.3(MED12):c.4827C>T (p.Asn1609=)	9968	MED12	Likely benign	779466860	RCV002076549;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354662	70354662	70354662	-
NM_005120.3(MED12):c.4851G>A (p.Ala1617=)	9968	MED12	Benign/Likely benign	377210068	RCV001517160\|RCV001704271\|RCV002339048;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70354686	70354686	X:g.70354686G>A	ClinGen:CA10444708	CN169374 not specified;
NM_005120.3(MED12):c.4863+1G>A	9968	MED12	Likely pathogenic	-1	RCV003322664;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354699	70354699		-
NM_005120.3(MED12):c.4863+7A>G	9968	MED12	Likely benign	2147822616	RCV002086837;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354705	70354705	70354705	-
NM_005120.3(MED12):c.4863+15C>T	9968	MED12	Benign/Likely benign	778076528	RCV000604403\|RCV002064341;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354713	70354713	X:g.70354713C>T	ClinGen:CA10444709	CN169374 not specified;
NM_005120.3(MED12):c.4863+16G>A	9968	MED12	Benign	745396813	RCV002086390;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354714	70354714	70354714	-
NM_005120.3(MED12):c.4863+19G>A	9968	MED12	Likely benign	1396684605	RCV002215474;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354717	70354717	70354717	-
NM_005120.3(MED12):c.4864-12del	9968	MED12	Likely benign	-1	RCV002796433;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354929	70354929	NC_000023.10:g.70354930del	-
NM_005120.3(MED12):c.4864-6C>T	9968	MED12	Conflicting interpretations of pathogenicity	1018026145	RCV001330018\|RCV001719049;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70354936	70354936	X:g.70354936C>T	ClinGen:CA330982753	CN169374 not specified;
NM_005120.3(MED12):c.4880G>A (p.Arg1627His)	9968	MED12	Conflicting interpretations of pathogenicity	759857680	RCV000489900\|RCV001515052;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354958	70354958	X:g.70354958G>A	ClinGen:CA10444723	CN169374 not specified;
NM_005120.3(MED12):c.4902G>A (p.Lys1634=)	9968	MED12	Likely benign	-1	RCV002899067;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354980	70354980		-
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)	9968	MED12	Pathogenic	2147823333	RCV001580323\|RCV001796996;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415	X	70354981	70354984	70354981	OMIM:300188.0007
NM_005120.3(MED12):c.4914G>A (p.Leu1638=)	9968	MED12	Likely benign	2092328932	RCV002150943;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70354992	70354992	70354992	-
NM_005120.3(MED12):c.4929G>A (p.Lys1643=)	9968	MED12	Likely benign	964113005	RCV001496612\|RCV003339654;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70355007	70355007	70355007	-
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)	9968	MED12	Uncertain significance	2092328967	RCV001245083;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355015	70355015	X:g.70355015G>A	-
NM_005120.3(MED12):c.4941T>C (p.Asp1647=)	9968	MED12	Likely benign	753148075	RCV002194417;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355019	70355019	70355019	-
NM_005120.3(MED12):c.4950G>A (p.Thr1650=)	9968	MED12	Benign/Likely benign	756839501	RCV000868240\|RCV001704475;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70355028	70355028	X:g.70355028G>A	ClinGen:CA10444726	CN169374 not specified;
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)	9968	MED12	Conflicting interpretations of pathogenicity	398124198	RCV000081265\|RCV001854432;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355049	70355049	X:g.70355049T>C	ClinGen:CA222841	CN169374 not specified;
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)	9968	MED12	Likely benign	376179450	RCV000439708\|RCV000869624\|RCV002339052;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70355052	70355052	X:g.70355052C>T	ClinGen:CA10444727	CN169374 not specified;
NM_005120.3(MED12):c.4980C>T (p.Thr1660=)	9968	MED12	Likely benign	2147823550	RCV001443811;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355058	70355058	70355058	-
NM_005120.3(MED12):c.5013C>T (p.Ile1671=)	9968	MED12	Likely benign	1569482185	RCV001913789;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355091	70355091	70355091	-
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)	9968	MED12	Uncertain significance	-1	RCV000760279;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707	X	70355095	70355097	X:g.70355095_70355097del	-
NM_005120.3(MED12):c.5025+1G>C	9968	MED12	Likely pathogenic	-1	RCV003063752;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355104	70355104	NC_000023.10:g.70355104G>C	-
NM_005120.3(MED12):c.5025+20C>T	9968	MED12	Benign	-1	RCV002943847;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70355123	70355123	NC_000023.10:g.70355123C>T	-
NM_005120.3(MED12):c.5026-13T>C	9968	MED12	Likely benign	1338117954	RCV002088080;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356118	70356118	70356118	-
NM_005120.3(MED12):c.5026-12T>A	9968	MED12	Likely benign	1057520901	RCV001703615\|RCV003105897;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356119	70356119	X:g.70356119T>A	ClinGen:CA16608919	CN169374 not specified;
NM_005120.3(MED12):c.5058G>A (p.Ser1686=)	9968	MED12	Likely benign	1346436513	RCV002147273\|RCV002337308;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356163	70356163	70356163	-
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu)	9968	MED12	Uncertain significance	1211195670	RCV001325961;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356192	70356192	70356192	-
NM_005120.3(MED12):c.5088G>A (p.Pro1696=)	9968	MED12	Likely benign	202167558	RCV000603797\|RCV001462115;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356193	70356193	X:g.70356193G>A	ClinGen:CA330983240	CN169374 not specified;
NM_005120.3(MED12):c.5103T>C (p.Ser1701=)	9968	MED12	Benign/Likely benign	762801267	RCV000610532\|RCV002065253\|RCV002315920\|RCV003437313;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70356208	70356208	X:g.70356208T>C	ClinGen:CA10444743	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5109C>T (p.Gly1703=)	9968	MED12	Benign	781134410	RCV000872283;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356214	70356214	X:g.70356214C>T	-
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)	9968	MED12	Pathogenic	2147826070	RCV001580324\|RCV001796997;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415	X	70356216	70356216	70356216	OMIM:300188.0008
NM_005120.3(MED12):c.5124C>A (p.Val1708=)	9968	MED12	Likely benign	775912778	RCV001480831;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356229	70356229	X:g.70356229C>A	-
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp)	9968	MED12	Uncertain significance	763233945	RCV001566118\|RCV002573198;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356239	70356239	70356239	-
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln)	9968	MED12	Uncertain significance	1196582695	RCV001989020;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356240	70356240	70356240	-
NM_005120.3(MED12):c.5142G>A (p.Val1714=)	9968	MED12	Likely benign	2147826171	RCV002211848;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356247	70356247	70356247	-
NM_005120.3(MED12):c.5172G>C (p.Leu1724=)	9968	MED12	Likely benign	1602304398	RCV002178027;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356277	70356277	70356277	-
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)	9968	MED12	Benign	-1	RCV002644278;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356280	70356280		-
NM_005120.3(MED12):c.5184A>G (p.Thr1728=)	9968	MED12	Likely benign	-1	RCV002780374;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356289	70356289		-
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)	9968	MED12	Pathogenic	387907362	RCV000043501\|RCV001580268;	N	MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356290	70356290	X:g.70356290C>A	ClinGen:CA143732,UniProtKB:Q93074#VAR_069772,OMIM:300188.0005	C3698541 300895 Ohdo syndrome, X-linked;
NM_005120.3(MED12):c.5190G>C (p.Leu1730=)	9968	MED12	Benign/Likely benign	753355369	RCV001514278\|RCV001704398\|RCV002339060;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356295	70356295	X:g.70356295G>C	ClinGen:CA10444751	CN169374 not specified;
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)	9968	MED12	Uncertain significance	1569482278	RCV000692793;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356297	70356297	NC_000023.10:g.70356297G>A	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5205C>G (p.Arg1735=)	9968	MED12	Likely benign	747836622	RCV001402605;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356310	70356310	70356310	-
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr)	9968	MED12	Conflicting interpretations of pathogenicity	1042718707	RCV001561169\|RCV001865978\|RCV002334604;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356311	70356311	70356311	-
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys)	9968	MED12	Uncertain significance	2092332758	RCV002022165;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356315	70356315	70356315	-
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu)	9968	MED12	Uncertain significance	2147826599	RCV001763743\|RCV002540468;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356342	70356342	70356342	-
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)	9968	MED12	Conflicting interpretations of pathogenicity	748064846	RCV000624172\|RCV001042091\|RCV002313377\|RCV003133406;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70356357	70356357	X:g.70356357C>T	ClinGen:CA10444759	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln)	9968	MED12	Uncertain significance	748064846	RCV001324572;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356357	70356357	70356357	-
NM_005120.3(MED12):c.5253G>A (p.Pro1751=)	9968	MED12	Likely benign	770067057	RCV001416565\|RCV003159761;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356358	70356358	NC_000023.10:g.70356358G>A	ClinGen:CA10444761	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)	9968	MED12	Conflicting interpretations of pathogenicity	1246253918	RCV001055537\|RCV001571041\|RCV002313385;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356363	70356363	X:g.70356363C>T	ClinGen:CA413534649	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)	9968	MED12	Benign/Likely benign	201843482	RCV000868976\|RCV001725198\|RCV002316814;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356372	70356372	NC_000023.10:g.70356372T>C	-
NM_005120.3(MED12):c.5268G>T (p.Leu1756=)	9968	MED12	Likely benign	1375174608	RCV001428689;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356373	70356373	70356373	-
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)	9968	MED12	Uncertain significance	-1	RCV002301411\|RCV003128856;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70356377	70356377	70356377	-
NM_005120.3(MED12):c.5295G>C (p.Glu1765Asp)	9968	MED12	Likely benign	-1	RCV002890928;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356400	70356400	NC_000023.10:g.70356400G>C	-
NM_005120.3(MED12):c.5301C>G (p.Pro1767=)	9968	MED12	Likely benign	1381304769	RCV001462088;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356406	70356406	X:g.70356406C>G	-
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)	9968	MED12	Conflicting interpretations of pathogenicity	1295791827	RCV001548681\|RCV003161080\|RCV002568974;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356408	70356408	70356408	-
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile)	9968	MED12	Uncertain significance	1556338856	RCV000633687;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356441	70356441	X:g.70356441C>T	ClinGen:CA413535008	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5343A>G (p.Glu1781=)	9968	MED12	Likely benign	750991975	RCV002221120;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356448	70356448	70356448	-
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)	9968	MED12	Uncertain significance	-1	RCV002790405;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356449	70356449	NC_000023.10:g.70356449C>T	-
NM_005120.3(MED12):c.5345G>A (p.Arg1782His)	9968	MED12	Uncertain significance	1060502167	RCV000474508;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356450	70356450	NC_000023.10:g.70356450G>A	ClinGen:CA16616531	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)	9968	MED12	Uncertain significance	-1	RCV002587282;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356452	70356454	NC_000023.10:g.70356452AAG[2]	-
NM_005120.3(MED12):c.5349G>A (p.Lys1783=)	9968	MED12	Likely benign	-1	RCV003023490;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356454	70356454		-
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser)	9968	MED12	Uncertain significance	1444442163	RCV000796450;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356465	70356465	X:g.70356465C>G	-
NM_005120.3(MED12):c.5370G>A (p.Lys1790=)	9968	MED12	Likely benign	-1	RCV002599676;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356475	70356475		-
NM_005120.3(MED12):c.5379C>T (p.Ser1793=)	9968	MED12	Likely benign	-1	RCV002814877;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356484	70356484		-
NM_005120.3(MED12):c.5400+2T>C	9968	MED12	Likely pathogenic	2147827179	RCV002029813;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356507	70356507	70356507	-
NM_005120.3(MED12):c.5400+6C>T	9968	MED12	Conflicting interpretations of pathogenicity	192656109	RCV000225701\|RCV000724242\|RCV001086702\|RCV001251841;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotyp	X	70356511	70356511	X:g.70356511C>T	ClinGen:CA244896	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5400+6C>A	9968	MED12	Uncertain significance	-1	RCV003048257;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356511	70356511	NC_000023.10:g.70356511C>A	-
NM_005120.3(MED12):c.5400+7G>A	9968	MED12	Benign/Likely benign	201254124	RCV000616430\|RCV000860928;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356512	70356512	X:g.70356512G>A	ClinGen:CA10444769	CN169374 not specified;
NM_005120.3(MED12):c.5400+9C>T	9968	MED12	Likely benign	-1	RCV002948373;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356514	70356514	NC_000023.10:g.70356514C>T	-
NM_005120.3(MED12):c.5400+11C>T	9968	MED12	Likely benign	-1	RCV002766288;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356516	70356516	NC_000023.10:g.70356516C>T	-
NM_005120.3(MED12):c.5400+15C>T	9968	MED12	Likely benign	1157498636	RCV002072676;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356520	70356520	70356520	-
NM_005120.3(MED12):c.5400+16G>A	9968	MED12	Likely benign	-1	RCV002942682;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356521	70356521	NC_000023.10:g.70356521G>A	-
NM_005120.3(MED12):c.5401-3C>A	9968	MED12	Uncertain significance	1180673067	RCV001892508\|RCV002343964;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356726	70356726	70356726	-
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)	9968	MED12	Conflicting interpretations of pathogenicity	-1	RCV002957213\|RCV003443095;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70356733	70356733	NC_000023.10:g.70356733A>G	-
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu)	9968	MED12	Uncertain significance	2147827854	RCV001951658;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356736	70356736	70356736	-
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu)	9968	MED12	Uncertain significance	368093012	RCV002019083;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356745	70356745	70356745	-
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)	9968	MED12	Conflicting interpretations of pathogenicity	770957462	RCV000193892\|RCV001560061\|RCV002517098;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356746	70356746	NC_000023.10:g.70356746G>A	ClinGen:CA207675	CN169374 not specified;
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)	9968	MED12	Uncertain significance	1432487094	RCV000813237;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356751	70356751	X:g.70356751G>A	-
NM_005120.3(MED12):c.5427C>T (p.Ser1809=)	9968	MED12	Likely benign	772462354	RCV001401396;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356755	70356755	NC_000023.10:g.70356755C>T	ClinGen:CA10444783	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)	9968	MED12	Uncertain significance	-1	RCV003017843;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356763	70356763	NC_000023.10:g.70356763A>G	-
NM_005120.3(MED12):c.5442G>C (p.Val1814=)	9968	MED12	Likely benign	773540568	RCV001404515\|RCV001584441\|RCV002313378;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356770	70356770	X:g.70356770G>C	ClinGen:CA10444784	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5453C>T (p.Pro1818Leu)	9968	MED12	Likely benign	761189421	RCV002106233;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356781	70356781	70356781	-
NM_005120.3(MED12):c.5469C>T (p.His1823=)	9968	MED12	Likely benign	1224259784	RCV001448288;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356797	70356797	70356797	-
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)	9968	MED12	Conflicting interpretations of pathogenicity	867576281	RCV000583569\|RCV001069215\|RCV002350410\|RCV003226331;	N	MONDO:MONDO:0007522,MedGen:C4225429, Orphanet:287\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:CN169374	X	70356804	70356804	X:g.70356804C>T	ClinGen:CA330983534	C0268335 130000 Ehlers-Danlos syndrome, classic type;
NM_005120.3(MED12):c.5485A>G (p.Ile1829Val)	9968	MED12	Likely benign	-1	RCV002603280;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356813	70356813	NC_000023.10:g.70356813A>G	-
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr)	9968	MED12	Uncertain significance	2092334189	RCV001894887;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356814	70356815	70356814	-
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)	9968	MED12	Benign/Likely benign	762466624	RCV000633699\|RCV001513160\|RCV002315940;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70356818	70356818	X:g.70356818A>C	ClinGen:CA10444789	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)	9968	MED12	Uncertain significance	-1	RCV003057153;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356825	70356825	NC_000023.10:g.70356825A>C	-
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala)	9968	MED12	Likely benign	200328506	RCV000197590\|RCV002054304\|RCV002517182;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123	X	70356838	70356838	X:g.70356838G>C	ClinGen:CA322049	CN169374 not specified;
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)	9968	MED12	Benign	-1	RCV002923540;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70356839	70356839		-
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)	9968	MED12	Benign	34784349	RCV000081267\|RCV000243489\|RCV000460000\|RCV000716061;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C2711754	X	70356863	70356863	X:g.70356863C>T	ClinGen:CA285646	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5552-4T>A	9968	MED12	Likely benign	2147828853	RCV002076694;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357033	70357033	70357033	-
NM_005120.3(MED12):c.5552-3C>T	9968	MED12	Uncertain significance	-1	RCV002756555;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357034	70357034	NC_000023.10:g.70357034C>T	-
NM_005120.3(MED12):c.5561G>A (p.Arg1854His)	9968	MED12	Benign	759125296	RCV001517485;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357046	70357046	70357046	-
NM_005120.3(MED12):c.5575C>T (p.Arg1859Cys)	9968	MED12	Likely benign	759956340	RCV002178172;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357060	70357060	70357060	-
NM_005120.3(MED12):c.5576G>A (p.Arg1859His)	9968	MED12	Likely benign	763700798	RCV003161474\|RCV002095208;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357061	70357061	70357061	-
NM_005120.3(MED12):c.5580T>A (p.Pro1860=)	9968	MED12	Likely benign	-1	RCV002711307;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357065	70357065		-
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)	9968	MED12	Uncertain significance	773713291	RCV000530761\|RCV002350202\|RCV003457718;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70357070	70357070	X:g.70357070G>A	ClinGen:CA10444808	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5592A>G (p.Pro1864=)	9968	MED12	Likely benign	1392245437	RCV001398100;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357077	70357077	70357077	-
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)	9968	MED12	Benign/Likely benign	587778438	RCV001034727\|RCV001711290\|RCV000121330;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MedGen:CN169374	X	70357078	70357078	X:g.70357078A>G	ClinGen:CA160391	CN169374 not specified;
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val)	9968	MED12	Uncertain significance	1326683020	RCV000809961;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357087	70357087	X:g.70357087C>G	-
NM_005120.3(MED12):c.5613A>C (p.Arg1871=)	9968	MED12	Likely benign	767241359	RCV001486258;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357098	70357098	70357098	-
NM_005120.3(MED12):c.5616A>G (p.Pro1872=)	9968	MED12	Likely benign	750250372	RCV001410316;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357101	70357101	NC_000023.10:g.70357101A>G	ClinGen:CA16616702	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala)	9968	MED12	Likely benign	372326268	RCV001237639\|RCV002348805;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357102	70357102	X:g.70357102A>G	-
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)	9968	MED12	Pathogenic	2147829167	RCV001580325\|RCV001797847;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415	X	70357107	70357107	70357107	OMIM:300188.0009
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)	9968	MED12	Uncertain significance	-1	RCV003063789;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357109	70357109	NC_000023.10:g.70357109C>T	-
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)	9968	MED12	Benign	147354926	RCV000117601\|RCV000224927\|RCV000248678\|RCV000718173\|RCV001080331;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:CN230736\|MedGen:C2711754\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357135	70357135	X:g.70357135G>A	ClinGen:CA288958	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5652C>T (p.Gly1884=)	9968	MED12	Likely benign	779068766	RCV001488360;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357137	70357137	70357137	-
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)	9968	MED12	Conflicting interpretations of pathogenicity	762659794	RCV000810549\|RCV001310731\|RCV003307502;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357138	70357138	X:g.70357138G>A	-
NM_005120.3(MED12):c.5655C>T (p.Val1885=)	9968	MED12	Likely benign	1556339100	RCV000633704;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357140	70357140	NC_000023.10:g.70357140C>T	ClinGen:CA516819986	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)	9968	MED12	Benign	758621985	RCV000542788\|RCV001712371;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70357144	70357144	X:g.70357144G>A	ClinGen:CA10444817	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)	9968	MED12	Uncertain significance	-1	RCV003042701;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357145	70357145	NC_000023.10:g.70357145G>A	-
NM_005120.3(MED12):c.5670C>T (p.Pro1890=)	9968	MED12	Likely benign	2147829327	RCV001425839;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357155	70357155	70357155	-
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=)	9968	MED12	Likely benign	747217643	RCV001490862\|RCV003284349;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357164	70357164	70357164	-
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)	9968	MED12	Benign/Likely benign	200663107	RCV000081268\|RCV000121331\|RCV001086459\|RCV002311001;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357196	70357196	X:g.70357196C>T	ClinGen:CA222845	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5712G>A (p.Ala1904=)	9968	MED12	Benign	189962028	RCV000863999\|RCV002066902;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357197	70357197	X:g.70357197G>A	ClinGen:CA10444820	CN169374 not specified;
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)	9968	MED12	Uncertain significance	-1	RCV002710984;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357202	70357202	NC_000023.10:g.70357202C>T	-
NM_005120.3(MED12):c.5718C>T (p.Pro1906=)	9968	MED12	Likely benign	746436864	RCV001425124;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357203	70357203	X:g.70357203C>T	-
NM_005120.3(MED12):c.5728C>A (p.Arg1910Ser)	9968	MED12	Likely benign	-1	RCV002599393;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357213	70357213	NC_000023.10:g.70357213C>A	-
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)	9968	MED12	Uncertain significance	2147829625	RCV002006731\|RCV003134343;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70357219	70357219	70357219	-
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu)	9968	MED12	Uncertain significance	767294730	RCV001932677;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357220	70357220	70357220	-
NM_005120.3(MED12):c.5745C>G (p.Leu1915=)	9968	MED12	Likely benign	-1	RCV003071418\|RCV003171049;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357230	70357230		-
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg)	9968	MED12	Uncertain significance	2147829667	RCV001947308;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357232	70357232	70357232	-
NM_005120.3(MED12):c.5748+16G>T	9968	MED12	Benign	199760183	RCV000198049\|RCV001701876\|RCV002054305;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357249	70357249	NC_000023.10:g.70357249G>T	ClinGen:CA322527	CN169374 not specified;
NM_005120.3(MED12):c.5749-11del	9968	MED12	Benign	2147830057	RCV002183384;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357394	70357394	70357393	-
NM_005120.3(MED12):c.5749-11T>G	9968	MED12	Likely benign	-1	RCV003086825;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357397	70357397	NC_000023.10:g.70357397T>G	-
NM_005120.3(MED12):c.5749-8C>T	9968	MED12	Likely benign	1385689270	RCV001493062;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357400	70357400	70357400	-
NM_005120.3(MED12):c.5749-5T>A	9968	MED12	Uncertain significance	949727987	RCV002012317;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357403	70357403	70357403	-
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)	9968	MED12	Uncertain significance	-1	RCV002612407\|RCV003395616;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|	X	70357412	70357412	NC_000023.10:g.70357412G>A	-
NM_005120.3(MED12):c.5754T>C (p.Ser1918=)	9968	MED12	Likely benign	1602305150	RCV001419374;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357413	70357413	X:g.70357413T>C	-
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)	9968	MED12	Uncertain significance	1415832392	RCV001208717;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357417	70357417	X:g.70357417G>A	-
NM_005120.3(MED12):c.5760C>T (p.Gly1920=)	9968	MED12	Likely benign	1437807483	RCV001415911;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357419	70357419	70357419	-
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val)	9968	MED12	Benign	1046757174	RCV002040659;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357427	70357427	70357427	-
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro)	9968	MED12	Uncertain significance	2147830190	RCV001921626;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357432	70357432	70357432	-
NM_005120.3(MED12):c.5775A>G (p.Ser1925=)	9968	MED12	Benign/Likely benign	376753995	RCV001511259\|RCV001703560\|RCV002356537;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357434	70357434	X:g.70357434A>G	ClinGen:CA16608985	CN169374 not specified;
NM_005120.3(MED12):c.5778T>C (p.Ser1926=)	9968	MED12	Likely benign	758530859	RCV001571765\|RCV002359185\|RCV002568462;	N	MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357437	70357437	70357437	-
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)	9968	MED12	Benign/Likely benign	201608537	RCV000868192\|RCV001698391\|RCV002313140\|RCV002502582;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415; MONDO:MONDO:0010655,MedGen:C079602	X	70357464	70357464	X:g.70357464C>T	ClinGen:CA10444835	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5808C>T (p.Tyr1936=)	9968	MED12	Likely benign	757398839	RCV002107572\|RCV002352852;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357467	70357467	70357467	-
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser)	9968	MED12	Benign/Likely benign	781638379	RCV001557988\|RCV002072103;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357468	70357468	70357468	-
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)	9968	MED12	Uncertain significance	-1	RCV003014564;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357478	70357478	NC_000023.10:g.70357478C>T	-
NM_005120.3(MED12):c.5826+7G>C	9968	MED12	Likely benign	374573886	RCV002128367;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357492	70357492	70357492	-
NM_005120.3(MED12):c.5826+8C>T	9968	MED12	Likely benign	2147830320	RCV001451919;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357493	70357493	70357493	-
NM_005120.3(MED12):c.5827-15C>G	9968	MED12	Likely benign	1234497074	RCV002199890;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357561	70357561	70357561	-
NM_005120.3(MED12):c.5827-15C>T	9968	MED12	Benign	-1	RCV002616021;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357561	70357561	NC_000023.10:g.70357561C>T	-
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser)	9968	MED12	Benign	1195178209	RCV001513770;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357585	70357585	X:g.70357585C>T	-
NM_005120.3(MED12):c.5849A>T (p.His1950Leu)	9968	MED12	Uncertain significance	2092336344	RCV001889659;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357598	70357598	70357598	-
NM_005120.3(MED12):c.5862G>A (p.Gln1954=)	9968	MED12	Likely benign	1191896226	RCV001500568;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357611	70357611	X:g.70357611G>A	-
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)	9968	MED12	Uncertain significance	-1	RCV003006461;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357616	70357616	NC_000023.10:g.70357616A>C	-
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)	9968	MED12	Benign/Likely benign	-1	RCV003161819\|RCV003092869;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357622	70357622	NC_000023.10:g.70357622G>C	-
NM_005120.3(MED12):c.5874C>T (p.Gly1958=)	9968	MED12	Likely benign	370235478	RCV002156895;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357623	70357623	70357623	-
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)	9968	MED12	Uncertain significance	2092336411	RCV001065641;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357627	70357627	X:g.70357627G>A	-
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)	9968	MED12	Pathogenic/Likely pathogenic	879255527	RCV000239399\|RCV001008098\|RCV003225937;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0100000,MedGen:CN305246	X	70357641	70357642	X:g.70357641_70357642insC	ClinGen:CA10586140	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5897C>A (p.Pro1966His)	9968	MED12	Uncertain significance	2147830796	RCV001983882;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357646	70357646	70357646	-
NM_005120.3(MED12):c.5904C>T (p.Tyr1968=)	9968	MED12	Likely benign	2092336448	RCV002110500;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357653	70357653	70357653	-
NM_005120.3(MED12):c.5916T>C (p.Pro1972=)	9968	MED12	Likely benign	2092336480	RCV001473052\|RCV003160918;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357665	70357665	70357665	-
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)	9968	MED12	not provided	2147830849	RCV001580326;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357668	70357668	70357668	-
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)	9968	MED12	Uncertain significance	879255528	RCV000239403\|RCV000515779\|RCV000762650\|RCV002313968;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen	X	70357671	70357671	X:g.70357671G>T	ClinGen:CA10586141,UniProtKB:Q93074#VAR_074018	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.5928C>T (p.Thr1976=)	9968	MED12	Likely benign	2147830882	RCV002216162;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357677	70357677	70357677	-
NM_005120.3(MED12):c.5952T>C (p.Leu1984=)	9968	MED12	Conflicting interpretations of pathogenicity	2092336597	RCV001565784\|RCV002569030;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357701	70357701	70357701	-
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)	9968	MED12	Uncertain significance	-1	RCV002297297;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357711	70357711	70357711	-
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)	9968	MED12	Uncertain significance	1569482448	RCV001965725\|RCV003134299\|RCV002564414;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	70357715	70357715	70357715	-
NM_005120.3(MED12):c.5978A>C (p.Gln1993Pro)	9968	MED12	Likely benign	-1	RCV002675958;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357727	70357727	NC_000023.10:g.70357727A>C	-
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln)	9968	MED12	Likely benign	750926172	RCV002163032\|RCV002352917;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357730	70357730	70357730	-
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser)	9968	MED12	Uncertain significance	2092336678	RCV001772373\|RCV001882876;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357732	70357732	70357732	-
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)	9968	MED12	Uncertain significance	1556339260	RCV000559892\|RCV002358467;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357738	70357738	X:g.70357738G>T	ClinGen:CA413539510	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.5991C>T (p.Gly1997=)	9968	MED12	Likely benign	780565385	RCV001501730\|RCV002354685;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357740	70357740	X:g.70357740C>T	-
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys)	9968	MED12	Uncertain significance	1324299187	RCV002034150;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357742	70357742	70357742	-
NM_005120.3(MED12):c.6003G>A (p.Gln2001=)	9968	MED12	Benign/Likely benign	1226474526	RCV002145398\|RCV002352871;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357752	70357752	70357752	-
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)	9968	MED12	Uncertain significance	769232520	RCV000502755\|RCV000624603\|RCV000633694\|RCV002279281\|RCV002314873;	N	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70357766	70357766	X:g.70357766A>C	ClinGen:CA10444859	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu)	9968	MED12	Uncertain significance	2147831227	RCV002012525;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357769	70357769	70357769	-
NM_005120.3(MED12):c.6022C>A (p.His2008Asn)	9968	MED12	Uncertain significance	2147831234	RCV001962499;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357771	70357771	70357771	-
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)	9968	MED12	Uncertain significance	777453338	RCV001207056\|RCV003438720;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900	X	70357786	70357786	X:g.70357786A>G	-
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro)	9968	MED12	Benign	777453338	RCV001513861;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357786	70357786	70357786	-
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)	9968	MED12	Uncertain significance	-1	RCV002579801;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357787	70357787	NC_000023.10:g.70357787C>G	-
NM_005120.3(MED12):c.6044+15G>C	9968	MED12	Likely benign	2147831315	RCV002079508;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357808	70357808	70357808	-
NM_005120.3(MED12):c.6044+16G>C	9968	MED12	Likely benign	367904425	RCV000424492\|RCV002059833;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357809	70357809	X:g.70357809G>C	ClinGen:CA10444861	CN169374 not specified;
NM_005120.3(MED12):c.6044+20G>T	9968	MED12	Likely benign	1022385883	RCV002144449;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70357813	70357813	70357813	-
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu)	9968	MED12	Likely benign	2092344632	RCV001056415;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360486	70360486	X:g.70360486T>C	-
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)	9968	MED12	Uncertain significance	-1	RCV002625715;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360509	70360509	NC_000023.10:g.70360509G>C	-
NM_005120.3(MED12):c.6072A>T (p.Thr2024=)	9968	MED12	Benign/Likely benign	200692655	RCV000431103\|RCV001518038\|RCV002356554;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360512	70360512	X:g.70360512A>T	ClinGen:CA10444870	CN169374 not specified;
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	9968	MED12	Uncertain significance	1294140756	RCV001907124\|RCV002503410;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068,Orph	X	70360516	70360516	70360516	-
NM_005120.3(MED12):c.6078G>T (p.Met2026Ile)	9968	MED12	Likely benign	-1	RCV003077959;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360518	70360518	NC_000023.10:g.70360518G>T	-
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)	9968	MED12	Conflicting interpretations of pathogenicity	750648216	RCV001049956\|RCV003283902;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360519	70360519	X:g.70360519A>G	-
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)	9968	MED12	Uncertain significance	2092344746	RCV001067631;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360534	70360534	X:g.70360534C>G	-
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	9968	MED12	Conflicting interpretations of pathogenicity	372606012	RCV000766104\|RCV001721275\|RCV002054309\|RCV002354550;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450,O	X	70360537	70360537	NC_000023.10:g.70360537A>G	ClinGen:CA319847	CN169374 not specified;
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr)	9968	MED12	Uncertain significance	1602306821	RCV000794725;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360543	70360543	X:g.70360543G>A	-
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)	9968	MED12	Uncertain significance	-1	RCV002856368;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360548	70360548	NC_000023.10:g.70360548G>C	-
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile)	9968	MED12	Benign	762612521	RCV001510542;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360552	70360552	70360552	-
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)	9968	MED12	Uncertain significance	901541873	RCV000482969\|RCV001230631\|RCV003258822;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MeSH:D030342,MedGen:C0950123	X	70360561	70360561	X:g.70360561G>A	ClinGen:CA16621490	CN169374 not specified;
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile)	9968	MED12	Conflicting interpretations of pathogenicity	755577187	RCV001884939\|RCV003303320;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360564	70360564	70360564	-
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)	9968	MED12	Uncertain significance	-1	RCV002843886;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360577	70360577	NC_000023.10:g.70360577C>G	-
NM_005120.3(MED12):c.6138C>T (p.Ala2046=)	9968	MED12	Likely benign	2147838956	RCV002124364;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360578	70360578	70360578	-
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val)	9968	MED12	Conflicting interpretations of pathogenicity	748668603	RCV000197721\|RCV002054310;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360579	70360579	X:g.70360579A>G	ClinGen:CA322181	CN169374 not specified;
NM_005120.3(MED12):c.6145C>A (p.Pro2049Thr)	9968	MED12	Likely benign	756758050	RCV002193186;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360585	70360585	70360585	-
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup)	9968	MED12	Uncertain significance	769857818	RCV000823071;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360588	70360589	X:g.70360588_70360589insAGC	-
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)	9968	MED12	Conflicting interpretations of pathogenicity	769857818	RCV000198584\|RCV001317523;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360589	70360594	X:g.70360589_70360594del	ClinGen:CA323109	CN169374 not specified;
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del)	9968	MED12	Uncertain significance	769857818	RCV001943842;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360589	70360591	70360588	-
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)	9968	MED12	Benign	-1	RCV002933455;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360589	70360597	NC_000023.10:g.70360590GCA[3]	-
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)	9968	MED12	Uncertain significance	-1	RCV002653042;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360594	70360623	NC_000023.10:g.70360608_70360637del	-
NM_005120.3(MED12):c.6165GCAACAGCA[3] (p.Gln2074_Gln2076dup)	9968	MED12	Likely benign	762261992	RCV000874991;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360599	70360600	X:g.70360599_70360600insCAGCAGCAA	-
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del)	9968	MED12	Conflicting interpretations of pathogenicity	762261992	RCV002025521\|RCV002352734;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360600	70360608	70360599	-
NM_005120.3(MED12):c.6165G>A (p.Gln2055=)	9968	MED12	Likely benign	2092345036	RCV002137342;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360605	70360605	70360605	-
NM_005120.3(MED12):c.6168A>G (p.Gln2056=)	9968	MED12	Likely benign	745565325	RCV002059050\|RCV002311218;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360608	70360608	X:g.70360608A>G	ClinGen:CA10444886	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del)	9968	MED12	Uncertain significance	773709991	RCV000467964;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360609	70360632	NC_000023.10:g.70360617ACAGCAACAGCAGCAGCAGCAGCA[1]	ClinGen:CA10444885	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)	9968	MED12	Pathogenic	2147839335	RCV001580327\|RCV003333166;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0012997,MeSH:C535632,MedGen:C0795969,OMIM:301068, Orphanet:1415	X	70360609	70360609	70360609	-
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)	9968	MED12	Benign/Likely benign	753370104	RCV000178504\|RCV000871559\|RCV002354459;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360611	70360612	X:g.70360611_70360612insCAGCAA	ClinGen:CA202902	CN169374 not specified;
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del)	9968	MED12	Conflicting interpretations of pathogenicity	753370104	RCV000841999\|RCV001327489;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360612	70360617	X:g.70360612_70360617del	-
NM_005120.3(MED12):c.6177A>G (p.Gln2059=)	9968	MED12	Likely benign	775267316	RCV001465362\|RCV002354749;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360617	70360617	X:g.70360617A>G	-
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup)	9968	MED12	Uncertain significance	2147839452	RCV001876986;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360617	70360618	70360617	-
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup)	9968	MED12	Likely benign	754533796	RCV000607874\|RCV001418897;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360623	70360624	X:g.70360623_70360624insCAG	ClinGen:CA10444892	CN169374 not specified;
NM_005120.3(MED12):c.6183A>G (p.Gln2061=)	9968	MED12	Likely benign	749041154	RCV001489627\|RCV003298864;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360623	70360623	70360623	-
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del)	9968	MED12	Conflicting interpretations of pathogenicity	754533796	RCV000701599\|RCV001538919;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70360624	70360629	NC_000023.10:g.70360626GCA[3]	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)	9968	MED12	Uncertain significance	-1	RCV002938706;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360624	70360626	NC_000023.10:g.70360626GCA[4]	-
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)	9968	MED12	Uncertain significance	1362044936	RCV001922873\|RCV002359410;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360626	70360626	70360626	-
NM_005120.3(MED12):c.6191_6192insACAGCAACA (p.Gln2074_Gln2076dup)	9968	MED12	Likely benign	752416697	RCV001480930;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360629	70360630	X:g.70360629_70360630insCAACAGCAA	-
NM_005120.3(MED12):c.6201ACAGCA[3] (p.Gln2075_Gln2076dup)	9968	MED12	Likely benign	758203078	RCV001466189;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360635	70360636	X:g.70360635_70360636insCAGCAA	-
NM_005120.3(MED12):c.6195G>A (p.Gln2065=)	9968	MED12	Likely benign	1001762438	RCV001405034;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360635	70360635	70360635	-
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)	9968	MED12	Benign/Likely benign	375793297	RCV000473107\|RCV001705392\|RCV001820795\|RCV002310929;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360641	70360641	NC_000023.10:g.70360641A>G	ClinGen:CA10444897	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)	9968	MED12	Uncertain significance	-1	RCV003038259;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360641	70360642	NC_000023.10:g.70360647_70360658dup	-
NM_005120.3(MED12):c.6204G>A (p.Gln2068=)	9968	MED12	Likely benign	1283568825	RCV001497212\|RCV002313641;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360644	70360644	NC_000023.10:g.70360644G>A	-
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)	9968	MED12	Benign/Likely benign	757160341	RCV000153024\|RCV000253558\|RCV000633697\|RCV000721006\|RCV001172017;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C2711754\|MedGen:C3661900	X	70360647	70360648	X:g.70360647_70360648insCAG	ClinGen:CA179880	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)	9968	MED12	Conflicting interpretations of pathogenicity	757160341	RCV000200223\|RCV000718604\|RCV000866438\|RCV001705115\|RCV002317722;	N	MedGen:CN169374\|MedGen:C2711754\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70360647	70360648	NC_000023.10:g.70360648CAG[9]	ClinGen:CA324785	CN169374 not specified;
NM_005120.3(MED12):c.6208CAG[10] (p.Gln2074_Gln2076dup)	9968	MED12	Uncertain significance	757160341	RCV001992402;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360647	70360648	70360647	-
NM_005120.3(MED12):c.6207A>G (p.Gln2069=)	9968	MED12	Likely benign	-1	RCV003068308;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360647	70360647		-
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	9968	MED12	Likely benign	757160341	RCV000459087\|RCV000619137\|RCV000718631\|RCV002496825;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN230736\|MedGen:C2711754\|MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776; MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932; MONDO:MONDO:0012997,MeSH:C535632,M	X	70360648	70360650	NC_000023.10:g.70360648CAG[6]	ClinGen:CA10444898	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6210G>A (p.Gln2070=)	9968	MED12	Likely benign	1229904793	RCV001558567\|RCV002569003;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360650	70360650	70360650	-
NM_005120.3(MED12):c.6211del (p.Gln2071fs)	9968	MED12	Likely pathogenic	-1	RCV003148247;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360651	70360651		-
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)	9968	MED12	Uncertain significance	2092345351	RCV001227866;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360658	70360658	X:g.70360658A>G	-
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)	9968	MED12	not provided	2147839986	RCV001580328;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360671	70360671	70360671	-
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)	9968	MED12	Conflicting interpretations of pathogenicity	786200971	RCV000153025\|RCV000461504\|RCV001704106\|RCV002514948;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	70360679	70360680	X:g.70360679_70360680insGCA	ClinGen:CA179882	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln)	9968	MED12	Uncertain significance	1602306967	RCV000812442;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360679	70360679	X:g.70360679G>A	-
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)	9968	MED12	Conflicting interpretations of pathogenicity	786200971	RCV000544153\|RCV000622064\|RCV000718240\|RCV001705116;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN230736\|MedGen:C2711754\|MedGen:CN517202	X	70360680	70360682	NC_000023.10:g.70360681CAG[5]	ClinGen:CA322929	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del)	9968	MED12	not provided	786200971	RCV001580329;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360680	70360688	70360679	-
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del)	9968	MED12	Uncertain significance	786200971	RCV001973899;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360680	70360685	70360679	-
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln)	9968	MED12	Uncertain significance	1001050248	RCV002007926;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360706	70360706	70360706	-
NM_005120.3(MED12):c.6267+3A>C	9968	MED12	Uncertain significance	2092345559	RCV001242549;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360710	70360710	X:g.70360710A>C	-
NM_005120.3(MED12):c.6267+20T>C	9968	MED12	Likely benign	1032542640	RCV000423514\|RCV002063619;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70360727	70360727	X:g.70360727T>C	ClinGen:CA16609210	CN169374 not specified;
NM_005120.3(MED12):c.6268-17C>G	9968	MED12	Likely benign	-1	RCV002893991;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361063	70361063	NC_000023.10:g.70361063C>G	-
NM_005120.3(MED12):c.6268-7del	9968	MED12	Likely benign	2147841483	RCV001449332;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361073	70361073	70361072	-
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln)	9968	MED12	Conflicting interpretations of pathogenicity	748394417	RCV001855245\|RCV002315937\|RCV003103813;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MedGen:C3661900	X	70361077	70361078	NC_000023.10:g.70361079GCA[5]	ClinGen:CA641958668	CN169374 not specified;
NM_005120.2(MED12):c.6273_6278dup	9968	MED12	Conflicting interpretations of pathogenicity	748394417	RCV000799478\|RCV001556835\|RCV002352349;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361077	70361078	X:g.70361077_70361078insAGCAGC	-
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]	9968	MED12	Uncertain significance	773480549	RCV002032970;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361077	70361078		-
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)	9968	MED12	not provided	2147841562	RCV001580330;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361080	70361080	70361080	-
NM_005120.3(MED12):c.6273G>A (p.Gln2091=)	9968	MED12	Likely benign	1556340048	RCV000560661\|RCV003159762;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361085	70361085	NC_000023.10:g.70361085G>A	ClinGen:CA516728426	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)	9968	MED12	Conflicting interpretations of pathogenicity	761195801	RCV000800094\|RCV001697849\|RCV001821737\|RCV002317351;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361085	70361086	NC_000023.10:g.70361091ACAGCA[3]	ClinGen:CA10444914	CN169374 not specified;
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)	9968	MED12	Uncertain significance	-1	RCV003085939;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361086	70361086	NC_000023.10:g.70361086C>A	-
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)	9968	MED12	Uncertain significance	-1	RCV002823679;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361086	70361097	NC_000023.10:g.70361091_70361102del	-
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)	9968	MED12	Uncertain significance	-1	RCV002885880;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361086	70361091	NC_000023.10:g.70361091ACAGCA[1]	-
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter)	9968	MED12	not provided	2147841653	RCV001580331;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361092	70361092	70361092	-
NM_005120.3(MED12):c.6285A>G (p.Gln2095=)	9968	MED12	Conflicting interpretations of pathogenicity	794727673	RCV000178534\|RCV001473636\|RCV002314646;	N	MedGen:C3661900\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361097	70361097	X:g.70361097A>G	ClinGen:CA245666	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)	9968	MED12	Conflicting interpretations of pathogenicity	766775649	RCV000706173\|RCV000824717\|RCV002362919;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361097	70361098	NC_000023.10:g.70361100GCA[9]	ClinGen:CA245668	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)	9968	MED12	Conflicting interpretations of pathogenicity	766775649	RCV000192962\|RCV001208635\|RCV001731427\|RCV002363001;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361097	70361098	NC_000023.10:g.70361112_70361120dupGCAGCAGCA	ClinGen:CA206135	CN169374 not specified;
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup)	9968	MED12	Conflicting interpretations of pathogenicity	766775649	RCV000479470\|RCV000691164\|RCV002367624;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361097	70361098	NC_000023.10:g.70361100GCA[8]	ClinGen:CA10444916	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)	9968	MED12	Conflicting interpretations of pathogenicity	766775649	RCV000550260\|RCV000621534\|RCV000721080\|RCV001591207;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN230736\|MedGen:C2711754\|MedGen:CN517202	X	70361098	70361103	NC_000023.10:g.70361100GCA[5]	ClinGen:CA641958669	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)	9968	MED12	Conflicting interpretations of pathogenicity	766775649	RCV000694662\|RCV002360762;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361098	70361100	NC_000023.10:g.70361100GCA[6]	-	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del)	9968	MED12	Uncertain significance	766775649	RCV001897475;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361098	70361106	70361097	-
NM_005120.3(MED12):c.6291G>A (p.Gln2097=)	9968	MED12	Likely benign	756285149	RCV000536845\|RCV003302788;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361103	70361103	X:g.70361103G>A	ClinGen:CA10444917	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6294G>A (p.Gln2098=)	9968	MED12	Likely benign	1408739478	RCV000549501;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361106	70361106	NC_000023.10:g.70361106G>A	ClinGen:CA516728462	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)	9968	MED12	Uncertain significance	2092346839	RCV001245544;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361106	70361107	X:g.70361106_70361107insCAGCAGCAGCAGCAA	-
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup)	9968	MED12	Uncertain significance	1425637621	RCV001300478;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361106	70361107	70361106	-
NM_005120.3(MED12):c.6297G>A (p.Gln2099=)	9968	MED12	Likely benign	1480313864	RCV000525622\|RCV001547198;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70361109	70361109	X:g.70361109G>A	ClinGen:CA516728470	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup)	9968	MED12	Uncertain significance	2147841816	RCV001935906;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361109	70361110	70361109	-
NM_005120.3(MED12):c.6300G>A (p.Gln2100=)	9968	MED12	Likely benign	1556340080	RCV000537638;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361112	70361112	X:g.70361112G>A	ClinGen:CA516728474	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup)	9968	MED12	Conflicting interpretations of pathogenicity	764789036	RCV000514550\|RCV000803502\|RCV002367707;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361115	70361116	NC_000023.10:g.70361121ACAGCA[3]	ClinGen:CA641958671	CN517202 not provided;
NM_005120.3(MED12):c.6303G>A (p.Gln2101=)	9968	MED12	Likely benign	1490399010	RCV000526377;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361115	70361115	X:g.70361115G>A	ClinGen:CA516728479	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del)	9968	MED12	Conflicting interpretations of pathogenicity	764789036	RCV000538945\|RCV001712492\|RCV002358468;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361116	70361121	NC_000023.10:g.70361121ACAGCA[1]	ClinGen:CA10444918	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)	9968	MED12	Uncertain significance	-1	RCV002863018;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361116	70361142	NC_000023.10:g.70361124_70361150del	-
NM_005120.3(MED12):c.6306G>A (p.Gln2102=)	9968	MED12	Likely benign	-1	RCV003013437;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361118	70361118		-
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)	9968	MED12	Conflicting interpretations of pathogenicity	727503869	RCV000153026\|RCV000551015\|RCV000619880\|RCV000721060\|RCV001719948;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN230736\|MedGen:C2711754\|MedGen:CN517202	X	70361122	70361136	X:g.70361122_70361136del	ClinGen:CA179884	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6312G>A (p.Gln2104=)	9968	MED12	Likely benign	1416010935	RCV001415206\|RCV002358925;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361124	70361124	70361124	-
NM_005120.3(MED12):c.6321G>A (p.Gln2107=)	9968	MED12	Likely benign	778103349	RCV000527171;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361133	70361133	NC_000023.10:g.70361133G>A	ClinGen:CA330985283	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)	9968	MED12	Conflicting interpretations of pathogenicity	1353930135	RCV000605230\|RCV001855241\|RCV003133401;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN517202	X	70361134	70361160	X:g.70361134_70361160del	ClinGen:CA641958676	CN169374 not specified;
NM_005120.3(MED12):c.6324G>A (p.Gln2108=)	9968	MED12	Likely benign	749807888	RCV000539766;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361136	70361136	X:g.70361136G>A	ClinGen:CA330985295	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro)	9968	MED12	Uncertain significance	755793630	RCV000618619\|RCV002531828;	N	MedGen:CN230736\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361138	70361138	X:g.70361138A>C	ClinGen:CA10444919	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6327G>A (p.Gln2109=)	9968	MED12	Likely benign	1333460909	RCV000552391;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361139	70361139	NC_000023.10:g.70361139G>A	ClinGen:CA516728514	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6333G>A (p.Gln2111=)	9968	MED12	Likely benign	1556340108	RCV000532528;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361145	70361145	X:g.70361145G>A	ClinGen:CA516728522	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)	9968	MED12	Benign/Likely benign	398124200	RCV000081269\|RCV000225918\|RCV000620099\|RCV000715884\|RCV001573590;	N	MedGen:CN169374\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MedGen:CN230736\|MedGen:C2711754\|MedGen:CN517202	X	70361151	70361152	X:g.70361151_70361152insCAGCAACACCAG	ClinGen:CA249211	CN230736 Cardiovascular phenotype;
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)	9968	MED12	Conflicting interpretations of pathogenicity	1433422316	RCV001211312\|RCV002365951;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387	X	70361160	70361161	X:g.70361160_70361161insCAGCAGCAA	-
NM_005120.3(MED12):c.6351G>A (p.Gln2117=)	9968	MED12	Likely benign	1175039083	RCV000540553;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361163	70361163	X:g.70361163G>A	ClinGen:CA516728552	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6360G>A (p.Gln2120=)	9968	MED12	Likely benign	779631682	RCV001409880;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361172	70361172	70361172	-
NM_005120.3(MED12):c.6360G>C (p.Gln2120His)	9968	MED12	Uncertain significance	-1	RCV003024844;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361172	70361172	NC_000023.10:g.70361172G>C	-
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)	9968	MED12	Uncertain significance	-1	RCV002577676;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361183	70361183	NC_000023.10:g.70361183C>T	-
NM_005120.3(MED12):c.6372G>A (p.Ala2124=)	9968	MED12	Likely benign	-1	RCV002890292;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361184	70361184		-
NM_005120.3(MED12):c.6384A>G (p.Gln2128=)	9968	MED12	Likely benign	1569482811	RCV001240900;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361196	70361196	X:g.70361196A>G	-
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)	9968	MED12	Uncertain significance	-1	RCV002766297;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361198	70361209	NC_000023.10:g.70361209_70361220del	-
NM_005120.3(MED12):c.6391C>G (p.Pro2131Ala)	9968	MED12	Uncertain significance	748914486	RCV001927017;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361203	70361203	70361203	-
NM_005120.3(MED12):c.6393C>G (p.Pro2131=)	9968	MED12	Likely benign	2147842475	RCV002132543;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361205	70361205	70361205	-
NM_005120.3(MED12):c.6399C>G (p.Ser2133=)	9968	MED12	Likely benign	1321273556	RCV003160934\|RCV001477624;	N	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361211	70361211	70361211	-
NM_005120.3(MED12):c.6408+1G>A	9968	MED12	Pathogenic/Likely pathogenic	2092347488	RCV001330019\|RCV001871806;	N	MONDO:MONDO:0010655,MedGen:C0796022,OMIM:309520, Orphanet:776\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361221	70361221	70361221	-
NM_005120.3(MED12):c.6408+9_6408+12del	9968	MED12	Likely benign	-1	RCV003092171;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361229	70361232	NC_000023.10:g.70361229_70361232del	-
NM_005120.3(MED12):c.6408+22del	9968	MED12	Benign	-1	RCV002857655;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361239	70361239	NC_000023.10:g.70361242del	-
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)	9968	MED12	Uncertain significance	-1	RCV003046801;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361735	70361758	NC_000023.10:g.70361740_70361763del	-
NM_005120.3(MED12):c.6416G>A (p.Arg2139His)	9968	MED12	Uncertain significance	1262235402	RCV001971527;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361740	70361740	70361740	-
NM_005120.3(MED12):c.6435C>T (p.Thr2145=)	9968	MED12	Likely benign	-1	RCV003104249;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361759	70361759		-
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)	9968	MED12	not provided	2147844887	RCV001580332;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361772	70361772	70361772	-
NM_005120.3(MED12):c.6465C>T (p.Val2155=)	9968	MED12	Likely benign	764620745	RCV001486216;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361789	70361789	X:g.70361789C>T	-
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	9968	MED12	Likely pathogenic	1085307941	RCV000488923\|RCV001290305\|RCV001580333;	N	MedGen:CN517202\|MONDO:MONDO:0010477,MedGen:C3698541,OMIM:300895, Orphanet:293707\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361800	70361800	X:g.70361800A>C	ClinGen:CA413544296,OMIM:300188.0006	CN517202 not provided;
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)	9968	MED12	Uncertain significance	-1	RCV002296368;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361803	70361803	70361803	-
NM_005120.3(MED12):c.6490+6C>T	9968	MED12	Uncertain significance	2147845031	RCV002042830;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70361820	70361820	70361820	-
NM_005120.3(MED12):c.6491-20T>C	9968	MED12	Benign	-1	RCV002579378;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362005	70362005	NC_000023.10:g.70362005T>C	-
NM_005120.3(MED12):c.6495C>A (p.Thr2165=)	9968	MED12	Likely benign	2147845582	RCV002088146;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362029	70362029	70362029	-
NM_005120.3(MED12):c.6502C>A (p.Gln2168Lys)	9968	MED12	Uncertain significance	-1	RCV003075976;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362036	70362036	NC_000023.10:g.70362036C>A	-
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)	9968	MED12	Uncertain significance	-1	RCV002647067;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362043	70362043	NC_000023.10:g.70362043G>T	-
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys)	9968	MED12	Conflicting interpretations of pathogenicity	777818556	RCV000489695\|RCV000633690;	N	MedGen:CN517202\|MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362060	70362060	X:g.70362060C>T	ClinGen:CA10444943	C0220769 305450 FG syndrome;
NM_005120.3(MED12):c.6527G>A (p.Arg2176His)	9968	MED12	Uncertain significance	-1	RCV002800300;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362061	70362061	NC_000023.10:g.70362061G>A	-
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)	9968	MED12	Uncertain significance	2092350107	RCV001247835;	N	MONDO:MONDO:0010590,MedGen:C5399762,OMIM:305450, Orphanet:93932	X	70362063	70362064	NC_000023.10:g.70362063_70362064delinsCT	-

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