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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Hematologic Diseases (D006402)
Parent Node: Vestibular Diseases (D015837)
..Starting node ..Kabuki syndrome (C537705)
Child Nodes:
Sister Nodes:
..Kabuki syndrome (C537705)
..Vertigo (D014717) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6005

Name:

Kabuki syndrome

Definition:

Alternative IDs:

OMIM:147920

ParentIDs:

MESH:D000015|MESH:D006402|MESH:D015837

TreeNumbers:

C09.218.568.900/C537705 |C15.378/C537705 |C16.131.077/C537705

Synonyms:

Slim Mappings:

Blood disease|Congenital abnormality|Ear-nose-throat disease

Reference:

MedGen: C537705
MeSH: C537705
OMIM: 147920;

Genes: KMT2D;

Phenotypes

1	HP:0001973	Autoimmune thrombocytopenia
2	HP:0000006	Autosomal dominant inheritance
3	HP:0003468	Abnormal vertebral morphology
4	HP:0000164	Abnormality of the dentition
5	HP:0002023	Anal atresia
6	HP:0002025	Anal stenosis
7	HP:0005218	Anoperineal fistula
8	HP:0001631	Atrial septal defect
9	HP:0000592	Blue sclerae
10	HP:0000957	Cafe-au-lait spot
11	HP:0000175	Cleft palate
12	HP:0001680	Coarctation of aorta
13	HP:0001374	Congenital hip dislocation
14	HP:0000851	Congenital hypothyroidism
15	HP:0004736	Crossed fused renal ectopia
16	HP:0000028	Cryptorchidism
17	HP:0000437	Depressed nasal tip
18	HP:0007655	Eversion of lateral third of lower eyelids
19	HP:0008872	Feeding difficulties in infancy
20	HP:0001290	Generalized hypotonia
21	HP:0001263	Global developmental delay
22	HP:0000365	Hearing impairment
23	HP:0001878	Hemolytic anemia
24	HP:0000218	High palate
25	HP:0002553	Highly arched eyebrow
26	HP:0001007	Hirsutism
27	HP:0001252	Hypotonia
28	HP:0001249	Intellectual disability
29	HP:0002566	Intestinal malrotation
30	HP:0001382	Joint hypermobility
31	HP:0000637	Long palpebral fissure
32	HP:0000400	Macrotia
33	HP:0002024	Malabsorption
34	HP:0000252	Microcephaly
35	HP:0000054	Micropenis
36	HP:0000358	Posteriorly rotated ears
37	HP:0008897	Postnatal growth retardation
38	HP:0004467	Preauricular pit
39	HP:0010314	Premature thelarche
40	HP:0011231	Prominent eyelashes
41	HP:0001212	Prominent fingertip pads
42	HP:0000508	Ptosis
43	HP:0002100	Recurrent aspiration pneumonia
44	HP:0000403	Recurrent otitis media
45	HP:0002650	Scoliosis
46	HP:0001250	Seizure
47	HP:0009237	Short 5th finger
48	HP:0004322	Short stature
49	HP:0000535	Sparse and thin eyebrow
50	HP:0000486	Strabismus
51	HP:0000074	Ureteropelvic junction obstruction
52	HP:0001629	Ventricular septal defect
53	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del)	8085	KMT2D	Likely pathogenic	587783704	RCV000146186;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49415856	49415858	NM_003482.3:c.16489_16491delATC	NP_003473.3:p.Ile5497del	NC_000012.11:g.49415856_49415858delGAT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16438_16441delAACT (p.Asn5480Valfs)	8085	KMT2D	Pathogenic	587783703	RCV000146185;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49415906	49415909	NM_003482.3:c.16438_16441delAACT	NP_003473.3:p.Asn5480Valfs	NC_000012.11:g.49415906_49415909delAGTT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser)	8085	KMT2D	Likely pathogenic	587783702	RCV000146184;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49415934	49415934	NM_003482.3:c.16413G>T	NP_003473.3:p.Arg5471Ser	NC_000012.11:g.49415934C>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16413-1G>C	8085	KMT2D	Likely pathogenic	793888515	RCV000172953;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49415935	49415935	NM_003482.3:c.16413-1G>C		NC_000012.11:g.49415935C>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16412+13G>A	8085	KMT2D	Uncertain significance	587783701	RCV000146183;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49416050	49416050	NM_003482.3:c.16412+13G>A		NC_000012.11:g.49416050C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16412+1G>T	8085	KMT2D	Pathogenic	794727752	RCV000179103;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49416062	49416062	NM_003482.3:c.16412+1G>T		NC_000012.11:g.49416062C>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp)	8085	KMT2D	Likely pathogenic	587783700	RCV000146182;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49416064	49416064	NM_003482.3:c.16411A>T	NP_003473.3:p.Arg5471Trp	NC_000012.11:g.49416064T>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met)	8085	KMT2D	Pathogenic;Uncertain significance	267607238	RCV000007975; RCV000153405;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49416084	49416084	NM_003482.3:c.16391C>T	NP_003473.3:p.Thr5464Met	NC_000012.11:g.49416084G>A	HGMD:CM105488,OMIM Allelic Variant:602113.0004	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter)	8085	KMT2D	Pathogenic	267607239	RCV000007974;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49416115	49416115	NM_003482.3:c.16360C>T	NP_003473.3:p.Arg5454Ter	NC_000012.11:g.49416115G>A	OMIM Allelic Variant:602113.0003	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.16306_16322del17insC (p.Ala5436Glnfs)	8085	KMT2D	Pathogenic	398123735	RCV000179089; RCV000080155;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49416389	49416405	NM_003482.3:c.16306_16322del17insC	NP_003473.3:p.Ala5436Glnfs	NC_000012.11:g.49416389_49416405del17insG	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.16109delG (p.Gly5370Alafs)	8085	KMT2D	Pathogenic	398123733	RCV000179088; RCV000080153;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49416602	49416602	NM_003482.3:c.16109delG	NP_003473.3:p.Gly5370Alafs	NC_000012.11:g.49416602delC	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15953_15956delTATT (p.Leu5318Serfs)	8085	KMT2D	Pathogenic	398123732	RCV000179068; RCV000080151;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49418457	49418460	NM_003482.3:c.15953_15956delTATT	NP_003473.3:p.Leu5318Serfs	NC_000012.11:g.49418457_49418460delAATA	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter)	8085	KMT2D	Pathogenic	587783699	RCV000146181;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49418470	49418470	NM_003482.3:c.15943C>T	NP_003473.3:p.Gln5315Ter	NC_000012.11:g.49418470G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter)	8085	KMT2D	Pathogenic	587783698	RCV000146180;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49418670	49418670	NM_003482.3:c.15844C>T	NP_003473.3:p.Arg5282Ter	NC_000012.11:g.49418670G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter)	8085	KMT2D	Pathogenic	587783697	RCV000146179;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49418723	49418723	NM_003482.3:c.15791G>A	NP_003473.3:p.Trp5264Ter	NC_000012.11:g.49418723C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His)	8085	KMT2D	Uncertain significance	3782356	RCV000146178; RCV000121442;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49420078	49420078	NM_003482.3:c.15671G>A	NP_003473.3:p.Arg5224His	NC_000012.11:g.49420078C>T	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His)	8085	KMT2D	Likely pathogenic	398123729	RCV000178659; RCV000080148;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49420108	49420108	NM_003482.3:c.15641G>A	NP_003473.3:p.Arg5214His	NC_000012.11:g.49420108C>T	HGMD:CM105480	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15559G>C (p.Ala5187Pro)	8085	KMT2D	Uncertain significance	775954885	RCV000178655;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420190	49420190	NM_003482.3:c.15559G>C	NP_003473.3:p.Ala5187Pro	NC_000012.11:g.49420190C>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His)	8085	KMT2D	Pathogenic	267607237	RCV000007972;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420213	49420213	NM_003482.3:c.15536G>A	NP_003473.3:p.Arg5179His	NC_000012.11:g.49420213C>T	OMIM Allelic Variant:602113.0001	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser)	8085	KMT2D	Uncertain significance	79330925	RCV000146177;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420388	49420388	NM_003482.3:c.15361G>T	NP_003473.3:p.Ala5121Ser	NC_000012.11:g.49420388C>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter)	8085	KMT2D	Pathogenic	727503979	RCV000178657; RCV000153407;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49420493	49420493	NM_003482.3:c.15256C>T	NP_003473.3:p.Arg5086Ter	NC_000012.11:g.49420493G>A	HGMD:CM122110	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly)	8085	KMT2D	Uncertain significance	75031009	RCV000146176;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420504	49420504	NM_003482.3:c.15245T>G	NP_003473.3:p.Val5082Gly	NC_000012.11:g.49420504A>C	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15235_15238delAATG (p.Asn5079Trpfs)	8085	KMT2D	Likely pathogenic	793888514	RCV000172951;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420511	49420514	NM_003482.3:c.15235_15238delAATG	NP_003473.3:p.Asn5079Trpfs	NC_000012.11:g.49420511_49420514delCATT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter)	8085	KMT2D	Pathogenic	587783696	RCV000146175;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420554	49420554	NM_003482.3:c.15195G>A	NP_003473.3:p.Trp5065Ter	NC_000012.11:g.49420554C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15172delG (p.Val5058Cysfs)	8085	KMT2D	Pathogenic	794727689	RCV000178653;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420577	49420577	NM_003482.3:c.15172delG	NP_003473.3:p.Val5058Cysfs	NC_000012.11:g.49420577delC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys)	8085	KMT2D	Likely pathogenic;Uncertain significance	398123724	RCV000172955; RCV000080143;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49420607	49420607	NM_003482.3:c.15142C>T	NP_003473.3:p.Arg5048Cys	NC_000012.11:g.49420607G>A	HGMD:CM114909	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15104G>C (p.Cys5035Ser)	8085	KMT2D	Likely pathogenic	398123723	RCV000178658; RCV000080142;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49420645	49420645	NM_003482.3:c.15104G>C	NP_003473.3:p.Cys5035Ser	NC_000012.11:g.49420645C>G	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter)	8085	KMT2D	Pathogenic	797045659	RCV000194362;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420670	49420670	NM_003482.3:c.15079C>T	NP_003473.3:p.Arg5027Ter	NC_000012.11:g.49420670G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter)	8085	KMT2D	Pathogenic	587783695	RCV000146174; RCV000153408;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49420688	49420688	NM_003482.3:c.15061C>T	NP_003473.3:p.Arg5021Ter	NC_000012.11:g.49420688G>A	HGMD:CM122109	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.15030dupA (p.Glu5011Argfs)	8085	KMT2D	Pathogenic	398123722	RCV000178656; RCV000080140;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49420719	49420719	NM_003482.3:c.15030dupA	NP_003473.3:p.Glu5011Argfs	NC_000012.11:g.49420719dupT	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.14885dupA (p.Pro4963Alafs)	8085	KMT2D	Pathogenic	797044744	RCV000178652;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420864	49420864	NM_003482.3:c.14885dupA	NP_003473.3:p.Pro4963Alafs	NC_000012.11:g.49420864dupT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His)	8085	KMT2D	Uncertain significance	587783694	RCV000146173;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49420909	49420909	NM_003482.3:c.14840C>A	NP_003473.3:p.Pro4947His	NC_000012.11:g.49420909G>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu)	8085	KMT2D	Likely pathogenic	183347186	RCV000172956;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49421017	49421017	NM_003482.3:c.14732C>T	NP_003473.3:p.Pro4911Leu	NC_000012.11:g.49421017G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter)	8085	KMT2D	Pathogenic	398123721	RCV000146172; RCV000080139;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49421039	49421039	NM_003482.3:c.14710C>T	NP_003473.3:p.Arg4904Ter	NC_000012.11:g.49421039G>A	HGMD:CM105476	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter)	8085	KMT2D	Likely pathogenic	793888513	RCV000172949;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49421090	49421090	NM_003482.3:c.14659G>T	NP_003473.3:p.Glu4887Ter	NC_000012.11:g.49421090C>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.14580dupT (p.Asp4861Terfs)	8085	KMT2D	Pathogenic	398123720	RCV000178625; RCV000080138;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49421649	49421649	NM_003482.3:c.14580dupT	NP_003473.3:p.Asp4861Terfs	NC_000012.11:g.49421649dupA	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs)	8085	KMT2D	Pathogenic	587783693	RCV000146171;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49424065	49424066	NM_003482.3:c.13996_13997delAG	NP_003473.3:p.Arg4666Glyfs	NC_000012.11:g.49424065_49424066delCT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.13780dupG (p.Ala4594Glyfs)	8085	KMT2D	Pathogenic	797044740	RCV000178460;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49424443	49424443	NM_003482.3:c.13780dupG	NP_003473.3:p.Ala4594Glyfs	NC_000012.11:g.49424443dupC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter)	8085	KMT2D	Pathogenic	587783692	RCV000146170;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49424741	49424741	NM_003482.3:c.13606C>T	NP_003473.3:p.Arg4536Ter	NC_000012.11:g.49424741G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter)	8085	KMT2D	Pathogenic	267607240	RCV000007973;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49424768	49424768	NM_003482.3:c.13579A>T	NP_003473.3:p.Lys4527Ter	NC_000012.11:g.49424768T>A	OMIM Allelic Variant:602113.0002	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.13518delC (p.Ser4507Alafs)	8085	KMT2D	Pathogenic	587783691	RCV000146169;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49424970	49424970	NM_003482.3:c.13518delC	NP_003473.3:p.Ser4507Alafs	NC_000012.11:g.49424970delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter)	8085	KMT2D	Pathogenic	587783690	RCV000146168;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425038	49425038	NM_003482.3:c.13450C>T	NP_003473.3:p.Arg4484Ter	NC_000012.11:g.49425038G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala)	8085	KMT2D	Benign;Uncertain significance	181733689	RCV000146166; RCV000080128;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49425443	49425443	NM_003482.3:c.13045C>G	NP_003473.3:p.Pro4349Ala	NC_000012.11:g.49425443G>C	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.13032delC (p.Lys4345Asnfs)	8085	KMT2D	Pathogenic	398123716	RCV000177988; RCV000080127;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49425456	49425456	NM_003482.3:c.13032delC	NP_003473.3:p.Lys4345Asnfs	NC_000012.11:g.49425456delG	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val)	8085	KMT2D	Uncertain significance	183702050	RCV000146165;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425487	49425487	NM_003482.3:c.13001C>T	NP_003473.3:p.Ala4334Val	NC_000012.11:g.49425487G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter)	8085	KMT2D	Pathogenic	587783688	RCV000146164;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425526	49425526	NM_003482.3:c.12962C>A	NP_003473.3:p.Ser4321Ter	NC_000012.11:g.49425526G>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12956_12957delGA (p.Arg4319Thrfs)	8085	KMT2D	Pathogenic	587783687	RCV000146163;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425531	49425532	NM_003482.3:c.12956_12957delGA	NP_003473.3:p.Arg4319Thrfs	NC_000012.11:g.49425531_49425532delTC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile)	8085	KMT2D	Benign;Uncertain significance	199895011	RCV000146162; RCV000080125;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49425575	49425575	NM_003482.3:c.12913G>A	NP_003473.3:p.Val4305Ile	NC_000012.11:g.49425575C>T	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs)	8085	KMT2D	Pathogenic	587783686	RCV000146161;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425592	49425592	NM_003482.3:c.12896delG	NP_003473.3:p.Gly4299Aspfs	NC_000012.11:g.49425592delC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=)	8085	KMT2D	Uncertain significance	71464946	RCV000146160;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425720	49425720	NM_003482.3:c.12768C>T	NP_003473.3:p.Leu4256=	NC_000012.11:g.49425720G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter)	8085	KMT2D	Likely pathogenic	793888511	RCV000172947;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425800	49425800	NM_003482.3:c.12688C>T	NP_003473.3:p.Gln4230Ter	NC_000012.11:g.49425800G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter)	8085	KMT2D	Pathogenic	587783685	RCV000146159;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49425896	49425896	NM_003482.3:c.12592C>T	NP_003473.3:p.Arg4198Ter	NC_000012.11:g.49425896G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12481delG (p.Glu4161Serfs)	8085	KMT2D	Pathogenic	794727611	RCV000177996;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426007	49426007	NM_003482.3:c.12481delG	NP_003473.3:p.Glu4161Serfs	NC_000012.11:g.49426007delC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter)	8085	KMT2D	Pathogenic	398123712	RCV000177992; RCV000080120;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49426058	49426058	NM_003482.3:c.12430C>T	NP_003473.3:p.Gln4144Ter	NC_000012.11:g.49426058G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter)	8085	KMT2D	Pathogenic	398123711	RCV000177987; RCV000080119;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49426082	49426082	NM_003482.3:c.12406C>T	NP_003473.3:p.Gln4136Ter	NC_000012.11:g.49426082G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=)	8085	KMT2D	Uncertain significance	370665309	RCV000146158;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426218	49426218	NM_003482.3:c.12270G>A	NP_003473.3:p.Gln4090=	NC_000012.11:g.49426218C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11939delA (p.Gln3980Argfs)	8085	KMT2D	Pathogenic	794727610	RCV000177995;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426549	49426549	NM_003482.3:c.11939delA	NP_003473.3:p.Gln3980Argfs	NC_000012.11:g.49426549delT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=)	8085	KMT2D	Uncertain significance	180784366	RCV000146157;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426602	49426602	NM_003482.3:c.11886A>G	NP_003473.3:p.Gln3962=	NC_000012.11:g.49426602T>C	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter)	8085	KMT2D	Pathogenic	797045658	RCV000194043;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426643	49426643	NM_003482.3:c.11845C>T	NP_003473.3:p.Gln3949Ter	NC_000012.11:g.49426643G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11796_11813del18 (p.Gln3934_Gln3939del)	8085	KMT2D	Likely pathogenic	793888516	RCV000172954;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426675	49426692	NM_003482.3:c.11796_11813del18	NP_003473.3:p.Gln3934_Gln3939del	NC_000012.11:g.49426675_49426692del18	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter)	8085	KMT2D	Pathogenic	398123708	RCV000177985; RCV000080114;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49426796	49426796	NM_003482.3:c.11692C>T	NP_003473.3:p.Gln3898Ter	NC_000012.11:g.49426796G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro)	8085	KMT2D	Uncertain significance	77538244	RCV000146155;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49426925	49426925	NM_003482.3:c.11563G>C	NP_003473.3:p.Ala3855Pro	NC_000012.11:g.49426925C>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11386delC (p.Gln3796Argfs)	8085	KMT2D	Pathogenic	587783683	RCV000146154;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49427102	49427102	NM_003482.3:c.11386delC	NP_003473.3:p.Gln3796Argfs	NC_000012.11:g.49427102delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter)	8085	KMT2D	Pathogenic	587783682	RCV000146153;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49427198	49427198	NM_003482.3:c.11290C>T	NP_003473.3:p.Gln3764Ter	NC_000012.11:g.49427198G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter)	8085	KMT2D	Pathogenic	863224890	RCV000200354;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49427213	49427213	NM_003482.3:c.11275C>T	NP_003473.3:p.Gln3759Ter	NC_000012.11:g.49427213G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter)	8085	KMT2D	Pathogenic	587783681	RCV000146152;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49427225	49427225	NM_003482.3:c.11263C>T	NP_003473.3:p.Gln3755Ter	NC_000012.11:g.49427225G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.11201_11202delTG (p.Leu3734Profs)	8085	KMT2D	Pathogenic	398123706	RCV000177991; RCV000080111;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427286	49427287	NM_003482.3:c.11201_11202delTG	NP_003473.3:p.Leu3734Profs	NC_000012.11:g.49427286_49427287delCA	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter)	8085	KMT2D	Pathogenic	398123704	RCV000177989; RCV000080109;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427339	49427339	NM_003482.3:c.11149C>T	NP_003473.3:p.Gln3717Ter	NC_000012.11:g.49427339G>A	HGMD:CM105473	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=)	8085	KMT2D	Uncertain significance	371444130	RCV000146151; RCV000177997;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427445	49427445	NM_003482.3:c.11043G>A	NP_003473.3:p.Gln3681=	NC_000012.11:g.49427445C>T	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala)	8085	KMT2D	Benign;Uncertain significance	112170602	RCV000146150; RCV000121422;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49427495	49427495	NM_003482.3:c.10993C>G	NP_003473.3:p.Pro3665Ala	NC_000012.11:g.49427495G>C	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter)	8085	KMT2D	Pathogenic	398123702	RCV000177986; RCV000080104;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427654	49427654	NM_003482.3:c.10834C>T	NP_003473.3:p.Gln3612Ter	NC_000012.11:g.49427654G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter)	8085	KMT2D	Pathogenic	398123701	RCV000177990; RCV000080103;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427669	49427669	NM_003482.3:c.10819C>T	NP_003473.3:p.Gln3607Ter	NC_000012.11:g.49427669G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.10740G>A (p.Gln3580=)	8085	KMT2D	Likely pathogenic	398123700	RCV000177938; RCV000080102;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427850	49427850	NM_003482.3:c.10740G>A	NP_003473.3:p.Gln3580=	NC_000012.11:g.49427850C>T	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)	8085	KMT2D	Pathogenic	398123699	RCV000177937; RCV000080100;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49427961	49427967	NM_003482.3:c.10623_10629delTCTGTGTinsCGCAAGTCACG	NP_003473.3:p.Leu3542Alafs	NC_000012.11:g.49427961_49427967delACACAGAinsCGTGACTTGCG	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp)	8085	KMT2D	Uncertain significance	201127814	RCV000146149;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49428256	49428256	NM_003482.3:c.10444C>T	NP_003473.3:p.Arg3482Trp	NC_000012.11:g.49428256G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met)	8085	KMT2D	Uncertain significance	35087111	RCV000146148;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49428638	49428638	NM_003482.3:c.10312G>A	NP_003473.3:p.Val3438Met	NC_000012.11:g.49428638C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter)	8085	KMT2D	Likely pathogenic	793888512	RCV000172948;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49431178	49431178	NM_003482.3:c.9961C>T	NP_003473.3:p.Arg3321Ter	NC_000012.11:g.49431178G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.9540delT (p.Glu3181Argfs)	8085	KMT2D	Pathogenic	797045672	RCV000194379;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49431599	49431599	NM_003482.3:c.9540delT	NP_003473.3:p.Glu3181Argfs	NC_000012.11:g.49431599delA	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val)	8085	KMT2D	Benign;Uncertain significance	199547661	RCV000146241; RCV000080223;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49432365	49432365	NM_003482.3:c.8774C>T	NP_003473.3:p.Ala2925Val	NC_000012.11:g.49432365G>A	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter)	8085	KMT2D	Likely pathogenic;Pathogenic	587783729	RCV000146240;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49432396	49432396	NM_003482.3:c.8743C>T	NP_003473.3:p.Arg2915Ter	NC_000012.11:g.49432396G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter)	8085	KMT2D	Pathogenic	727503983	RCV000177775; RCV000153412;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49432651	49432651	NM_003482.3:c.8488C>T	NP_003473.3:p.Arg2830Ter	NC_000012.11:g.49432651G>A	HGMD:CM105465	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.8445_8475dup31 (p.Ala2826Thrfs)	8085	KMT2D	Pathogenic	797045671	RCV000193150;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49432664	49432694	NM_003482.3:c.8445_8475dup31	NP_003473.3:p.Ala2826Thrfs	NC_000012.11:g.49432664_49432694dup31	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr)	8085	KMT2D	Uncertain significance	78415116	RCV000146239;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49433011	49433011	NM_003482.3:c.8360A>C	NP_003473.3:p.Asn2787Thr	NC_000012.11:g.49433011T>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs)	8085	KMT2D	Pathogenic	587783728	RCV000146238;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49433272	49433276	NM_003482.3:c.8171_8175delCCAGC	NP_003473.3:p.Pro2724Glnfs	NC_000012.11:g.49433272_49433276delGCTGG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=)	8085	KMT2D	Benign;Uncertain significance	148457961	RCV000146237; RCV000080219;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49433383	49433383	NM_003482.3:c.8064G>A	NP_003473.3:p.Glu2688=	NC_000012.11:g.49433383C>T	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter)	8085	KMT2D	Pathogenic	587783727	RCV000146236;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49433394	49433394	NM_003482.3:c.8053C>T	NP_003473.3:p.Arg2685Ter	NC_000012.11:g.49433394G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.7903C>T (p.Arg2635Ter)	8085	KMT2D	Pathogenic	794727549	RCV000177549;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49433650	49433650	NM_003482.3:c.7903C>T	NP_003473.3:p.Arg2635Ter	NC_000012.11:g.49433650G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser)	8085	KMT2D	Uncertain significance	201507971	RCV000146232; RCV000121407;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49433848	49433848	NM_003482.3:c.7705G>A	NP_003473.3:p.Gly2569Ser	NC_000012.11:g.49433848C>T	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.7481dupT (p.Ala2496Serfs)	8085	KMT2D	Likely pathogenic	35584294	RCV000172952;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434072	49434072	NM_003482.3:c.7481dupT	NP_003473.3:p.Ala2496Serfs	NC_000012.11:g.49434072dupA	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.7375_7376delTC (p.Ser2459Profs)	8085	KMT2D	Pathogenic	794727548	RCV000177548;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434177	49434178	NM_003482.3:c.7375_7376delTC	NP_003473.3:p.Ser2459Profs	NC_000012.11:g.49434177_49434178delGA	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala)	8085	KMT2D	Uncertain significance	35111108	RCV000146231;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434355	49434355	NM_003482.3:c.7198C>G	NP_003473.3:p.Pro2400Ala	NC_000012.11:g.49434355G>C	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=)	8085	KMT2D	Uncertain significance	3741625	RCV000146229;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434383	49434383	NM_003482.3:c.7170G>A	NP_003473.3:p.Pro2390=	NC_000012.11:g.49434383C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.7140delG (p.Gln2380Hisfs)	8085	KMT2D	Pathogenic	398123758	RCV000177552; RCV000080209;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49434413	49434413	NM_003482.3:c.7140delG	NP_003473.3:p.Gln2380Hisfs	NC_000012.11:g.49434413delC	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.7066C>T (p.Gln2356Ter)	8085	KMT2D	Pathogenic	398123757	RCV000177551; RCV000080208;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49434487	49434487	NM_003482.3:c.7066C>T	NP_003473.3:p.Gln2356Ter	NC_000012.11:g.49434487G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp)	8085	KMT2D	Uncertain significance	587783726	RCV000146227;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434709	49434709	NM_003482.3:c.6844C>T	NP_003473.3:p.Arg2282Trp	NC_000012.11:g.49434709G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=)	8085	KMT2D	Benign;Uncertain significance	73302197	RCV000146226; RCV000153415;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49434746	49434746	NM_003482.3:c.6807C>T	NP_003473.3:p.Ser2269=	NC_000012.11:g.49434746G>A	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val)	8085	KMT2D	Likely benign;Uncertain significance	201931833	RCV000146225; RCV000177545;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49434820	49434820	NM_003482.3:c.6733C>G	NP_003473.3:p.Leu2245Val	NC_000012.11:g.49434820G>C	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.6670_6674delGGGGA (p.Gly2224Ilefs)	8085	KMT2D	Pathogenic	587783725	RCV000146224;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434879	49434883	NM_003482.3:c.6670_6674delGGGGA	NP_003473.3:p.Gly2224Ilefs	NC_000012.11:g.49434879_49434883delTCCCC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr)	8085	KMT2D	Uncertain significance	587783724	RCV000146223;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49434913	49434913	NM_003482.3:c.6640G>A	NP_003473.3:p.Ala2214Thr	NC_000012.11:g.49434913C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs)	8085	KMT2D	Likely pathogenic;Pathogenic	398123753	RCV000146222; RCV000080202;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49434958	49434958	NM_003482.3:c.6595delT	NP_003473.3:p.Tyr2199Ilefs	NC_000012.11:g.49434958delA	HGMD:CD105469	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=)	8085	KMT2D	Benign;Uncertain significance	202085637	RCV000146221; RCV000080201;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49434980	49434980	NM_003482.3:c.6573G>A	NP_003473.3:p.Thr2191=	NC_000012.11:g.49434980C>T	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.6172delG (p.Ala2058Profs)	8085	KMT2D	Pathogenic	797045669	RCV000193310;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49435711	49435711	NM_003482.3:c.6172delG	NP_003473.3:p.Ala2058Profs	NC_000012.11:g.49435711delC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.6171dupA (p.Ala2058Serfs)	8085	KMT2D	Pathogenic	797045668	RCV000195084;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49435712	49435712	NM_003482.3:c.6171dupA	NP_003473.3:p.Ala2058Serfs	NC_000012.11:g.49435712dupT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter)	8085	KMT2D	Pathogenic	556669370	RCV000146220;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49435757	49435757	NM_003482.3:c.6126C>A	NP_003473.3:p.Cys2042Ter	NC_000012.11:g.49435757G>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.6086delC (p.Pro2029Leufs)	8085	KMT2D	Pathogenic	587783723	RCV000146219;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49435895	49435895	NM_003482.3:c.6086delC	NP_003473.3:p.Pro2029Leufs	NC_000012.11:g.49435895delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs)	8085	KMT2D	Likely pathogenic;Pathogenic	398123751	RCV000172950; RCV000080195;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49436066	49436073	NM_003482.3:c.5908_5915delGACAGCCC	NP_003473.3:p.Asp1970Leufs	NC_000012.11:g.49436066_49436073delGGGCTGTC	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.5677C>T (p.Gln1893Ter)	8085	KMT2D	Pathogenic	794727420	RCV000176652;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49436629	49436629	NM_003482.3:c.5677C>T	NP_003473.3:p.Gln1893Ter	NC_000012.11:g.49436629G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.5645-2A>G	8085	KMT2D	Pathogenic	398123750	RCV000176651; RCV000080193;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49436663	49436663	NM_003482.3:c.5645-2A>G		NC_000012.11:g.49436663T>C	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.5423delG (p.Gly1808Glufs)	8085	KMT2D	Pathogenic	794727379	RCV000176392;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49437462	49437462	NM_003482.3:c.5423delG	NP_003473.3:p.Gly1808Glufs	NC_000012.11:g.49437462delC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.5131A>T (p.Lys1711Ter)	8085	KMT2D	Pathogenic	794727342	RCV000176195;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49438040	49438040	NM_003482.3:c.5131A>T	NP_003473.3:p.Lys1711Ter	NC_000012.11:g.49438040T>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4981dupG (p.Glu1661Glyfs)	8085	KMT2D	Pathogenic	797045667	RCV000193869;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49438288	49438288	NM_003482.3:c.4981dupG	NP_003473.3:p.Glu1661Glyfs	NC_000012.11:g.49438288dupC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4739delC (p.Pro1580Glnfs)	8085	KMT2D	Pathogenic	587783719	RCV000146215;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49439705	49439705	NM_003482.3:c.4739delC	NP_003473.3:p.Pro1580Glnfs	NC_000012.11:g.49439705delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4485C>G (p.Tyr1495Ter)	8085	KMT2D	Pathogenic	574622908	RCV000175041;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49440141	49440141	NM_003482.3:c.4485C>G	NP_003473.3:p.Tyr1495Ter	NC_000012.11:g.49440141G>C	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr)	8085	KMT2D	Likely pathogenic	587783718	RCV000146214;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49440205	49440205	NM_003482.3:c.4421G>A	NP_003473.3:p.Cys1474Tyr	NC_000012.11:g.49440205C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4418+5G>A	8085	KMT2D	Uncertain significance	587783717	RCV000146213;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49440387	49440387	NM_003482.3:c.4418+5G>A		NC_000012.11:g.49440387C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr)	8085	KMT2D	Uncertain significance	587783716	RCV000146212;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49440467	49440467	NM_003482.3:c.4343G>A	NP_003473.3:p.Cys1448Tyr	NC_000012.11:g.49440467C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4265G>A (p.Trp1422Ter)	8085	KMT2D	Pathogenic	794727143	RCV000174880;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49440545	49440545	NM_003482.3:c.4265G>A	NP_003473.3:p.Trp1422Ter	NC_000012.11:g.49440545C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4237-2A>C	8085	KMT2D	Pathogenic	797045001	RCV000190497;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49440575	49440575	NM_003482.3:c.4237-2A>C		NC_000012.11:g.49440575T>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4221delC (p.Cys1408Valfs)	8085	KMT2D	Pathogenic	587783715	RCV000146211;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49441763	49441763	NM_003482.3:c.4221delC	NP_003473.3:p.Cys1408Valfs	NC_000012.11:g.49441763delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4168dupG (p.Ala1390Glyfs)	8085	KMT2D	Pathogenic	756471180	RCV000174739;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49441816	49441816	NM_003482.3:c.4168dupG	NP_003473.3:p.Ala1390Glyfs	NC_000012.11:g.49441816dupC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs)	8085	KMT2D	Pathogenic	398123744	RCV000146210; RCV000080179;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49441848	49441849	NM_003482.3:c.4135_4136delAT	NP_003473.3:p.Met1379Valfs	NC_000012.11:g.49441848_49441849delAT	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His)	8085	KMT2D	Uncertain significance	764942	RCV000146209;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49442442	49442442	NM_003482.3:c.4131G>C	NP_003473.3:p.Gln1377His	NC_000012.11:g.49442442C>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=)	8085	KMT2D	Uncertain significance	1368572	RCV000146208;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49442450	49442450	NM_003482.3:c.4123C>T	NP_003473.3:p.Leu1375=	NC_000012.11:g.49442450G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His)	8085	KMT2D	Uncertain significance	764941	RCV000146207;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49442490	49442490	NM_003482.3:c.4083G>C	NP_003473.3:p.Gln1361His	NC_000012.11:g.49442490C>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.4009G>T (p.Glu1337Ter)	8085	KMT2D	Pathogenic	727503986	RCV000174315; RCV000153417;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49442899	49442899	NM_003482.3:c.4009G>T	NP_003473.3:p.Glu1337Ter	NC_000012.11:g.49442899C>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs)	8085	KMT2D	Pathogenic	398123743	RCV000174079; RCV000080175;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49443525	49443537	NM_003482.3:c.3834_3846delTATCAGCGGAGGC	NP_003473.3:p.Ile1279Lysfs	NC_000012.11:g.49443525_49443537delGCCTCCGCTGATA	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala)	8085	KMT2D	Uncertain significance	74643880	RCV000146203;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49443568	49443568	NM_003482.3:c.3803A>C	NP_003473.3:p.Asp1268Ala	NC_000012.11:g.49443568T>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter)	8085	KMT2D	Pathogenic	727503987	RCV000174080; RCV000153419;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49443617	49443617	NM_003482.3:c.3754C>T	NP_003473.3:p.Arg1252Ter	NC_000012.11:g.49443617G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.3695delC (p.Pro1232Argfs)	8085	KMT2D	Pathogenic	587783713	RCV000146202;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49443676	49443676	NM_003482.3:c.3695delC	NP_003473.3:p.Pro1232Argfs	NC_000012.11:g.49443676delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.3591delC (p.Thr1198Leufs)	8085	KMT2D	Pathogenic	797045663	RCV000194782;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49443780	49443780	NM_003482.3:c.3591delC	NP_003473.3:p.Thr1198Leufs	NC_000012.11:g.49443780delG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.3585dupA (p.Pro1196Thrfs)	8085	KMT2D	Pathogenic	797045662	RCV000193552;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49443786	49443786	NM_003482.3:c.3585dupA	NP_003473.3:p.Pro1196Thrfs	NC_000012.11:g.49443786dupT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.3582dupC (p.Thr1195Hisfs)	8085	KMT2D	Pathogenic	796065328	RCV000174075;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49443789	49443789	NM_003482.3:c.3582dupC	NP_003473.3:p.Thr1195Hisfs	NC_000012.11:g.49443789dupG	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter)	8085	KMT2D	Pathogenic	587783712	RCV000146201;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49443818	49443818	NM_003482.3:c.3553C>T	NP_003473.3:p.Gln1185Ter	NC_000012.11:g.49443818G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.3532C>T (p.Gln1178Ter)	8085	KMT2D	Pathogenic	398123741	RCV000174078; RCV000080173;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49443839	49443839	NM_003482.3:c.3532C>T	NP_003473.3:p.Gln1178Ter	NC_000012.11:g.49443839G>A	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter)	8085	KMT2D	Pathogenic	587783711	RCV000146200;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49444250	49444250	NM_003482.3:c.3121C>T	NP_003473.3:p.Gln1041Ter	NC_000012.11:g.49444250G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986Thrfs)	8085	KMT2D	Pathogenic	797045660	RCV000193617;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49444416	49444417	NM_003482.3:c.2954_2955insT	NP_003473.3:p.Pro986Thrfs	NC_000012.11:g.49444416_49444417insA	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.2797+1G>A	8085	KMT2D	Pathogenic	727503988	RCV000173774; RCV000153420;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49444668	49444668	NM_003482.3:c.2797+1G>A		NC_000012.11:g.49444668C>T	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs)	8085	KMT2D	Pathogenic	797044630	RCV000173776;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49444718	49444719	NM_003482.3:c.2747_2748delCGinsAGCTGAGCCATCC	NP_003473.3:p.Pro916Glnfs	NC_000012.11:g.49444718_49444719delCGinsGGATGGCTCAGCT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu)	8085	KMT2D	Uncertain significance	587783709	RCV000146198;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49444809	49444809	NM_003482.3:c.2657C>T	NP_003473.3:p.Pro886Leu	NC_000012.11:g.49444809G>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.2250_2276del27 (p.Arg755_Pro763del)	8085	KMT2D	Likely pathogenic	587778449	RCV000146194; RCV000121368;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN169374	12	49445190	49445216	NM_003482.3:c.2250_2276del27	NP_003473.3:p.Arg755_Pro763del	NC_000012.11:g.49445190_49445216delGGCTCCTCAGGCCGGGGGGACAGGTGC	-	C0796004 147920 Kabuki make-up syndrome; CN169374 not specified
NM_003482.3(KMT2D):c.2078C>A (p.Pro693His)	8085	KMT2D	Uncertain significance	76663644	RCV000146191;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49445388	49445388	NM_003482.3:c.2078C>A	NP_003473.3:p.Pro693His	NC_000012.11:g.49445388G>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.1814_1815delAG (p.Glu605Valfs)	8085	KMT2D	Pathogenic	727503989	RCV000173775; RCV000153421;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49445651	49445652	NM_003482.3:c.1814_1815delAG	NP_003473.3:p.Glu605Valfs	NC_000012.11:g.49445651_49445652delCT	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter)	8085	KMT2D	Pathogenic	587783705	RCV000146187;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49445653	49445653	NM_003482.3:c.1813G>T	NP_003473.3:p.Glu605Ter	NC_000012.11:g.49445653C>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.1329_1332delACCT (p.Pro444Argfs)	8085	KMT2D	Pathogenic	587783689	RCV000146167;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49446134	49446137	NM_003482.3:c.1329_1332delACCT	NP_003473.3:p.Pro444Argfs	NC_000012.11:g.49446134_49446137delAGGT	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.1300dupC (p.Leu434Profs)	8085	KMT2D	Pathogenic	398123715	RCV000173777; RCV000080126;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007; MedGen:CN221809	12	49446166	49446166	NM_003482.3:c.1300dupC	NP_003473.3:p.Leu434Profs	NC_000012.11:g.49446166dupG	-	C0796004 147920 Kabuki make-up syndrome; CN221809 not provided
NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr)	8085	KMT2D	Uncertain significance	78617409	RCV000146243;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49446842	49446842	NM_003482.3:c.968G>A	NP_003473.3:p.Cys323Tyr	NC_000012.11:g.49446842C>T	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.836dupG (p.Cys279Trpfs)	8085	KMT2D	Pathogenic	797045670	RCV000194921;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49447262	49447262	NM_003482.3:c.836dupG	NP_003473.3:p.Cys279Trpfs	NC_000012.11:g.49447262dupC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.400+1G>C	8085	KMT2D	Pathogenic	587783714	RCV000146205;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49448310	49448310	NM_003482.3:c.400+1G>C		NC_000012.11:g.49448310C>G	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.303delG (p.Ser102Alafs)	8085	KMT2D	Pathogenic	797045661	RCV000192334;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49448408	49448408	NM_003482.3:c.303delG	NP_003473.3:p.Ser102Alafs	NC_000012.11:g.49448408delC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter)	8085	KMT2D	Pathogenic	587783708	RCV000146197;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49448455	49448455	NM_003482.3:c.256G>T	NP_003473.3:p.Glu86Ter	NC_000012.11:g.49448455C>A	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.177-12_177-2delGTGTGTCCACA	8085	KMT2D	Pathogenic	794727497	RCV000177176;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49448536	49448546	NM_003482.3:c.177-12_177-2delGTGTGTCCACA		NC_000012.11:g.49448536_49448546delTGTGGACACAC	-	C0796004 147920 Kabuki make-up syndrome
NM_003482.3(KMT2D):c.133delA (p.Ser45Valfs)	8085	KMT2D	Pathogenic	727503990	RCV000153425;	N	MedGen:C0796004,OMIM:147920,ORPHA:2322,SNOMED CT:313426007	12	49448726	49448726	NM_003482.3:c.133delA	NP_003473.3:p.Ser45Valfs	NC_000012.11:g.49448726delT	-	C0796004 147920 Kabuki make-up syndrome