MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Ataxia (D001259)
Parent Node: Epilepsy (D004827)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
Child Nodes:
Sister Nodes:
..Athabaskan brainstem dysgenesis (C535397)
..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
..Duane Retraction Syndrome (D004370) 2
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Levator-Medial Rectus Synkinesis (C563625)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Miller Fisher Syndrome (D019846)
..NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..Nystagmus, Pathologic (D009759) 25
..Oculomotor Nerve Diseases (D015840) 4
..Ophthalmoplegia (D009886) 41 C:9
..Opsoclonus-Myoclonus Syndrome (D053578) 1
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Setting-Sun Phenomenon, Familial Benign (C563470)
..Strabismus (D013285) 13
..Tolosa-Hunt Syndrome (D020333) 1
..Tukel syndrome (C536925)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7801

Name:

Mental Retardation, X-Linked, Syndromic, Christianson Type

Definition:

Alternative IDs:

DO:DOID:0060825|OMIM:300243

ParentIDs:

TreeNumbers:

C05.660.207.620/C567484 |C10.228.140.490/C567484 |C10.228.758/C567484 |C10.292.562/C567484 |C10.500.507.400.500/C567484 |C10.597.350.090/C567484 |C10.597.606.360/C567484 |C11.590/C567484 |C16.131.621.207.620/C567484 |C16.131.666.507.400.500/C567484 |C16.320.322/C5

Synonyms:

Angelman-Like Syndrome, X-Linked |Christianson Syndrome |Intellectual Deficit, X-Linked, South African Type |Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome |MRXSCH

Slim Mappings:

Reference:

MedGen: C567484
MeSH: C567484
OMIM: 300243;
MSeqDR :
Genes: SLC9A6;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001760	Abnormality of the foot
3	HP:0001344	Absent speech
4	HP:0001181	Adducted thumb
5	HP:0002607	Bowel incontinence
6	HP:0001272	Cerebellar atrophy
7	HP:0004325	Decreased body weight
8	HP:0002307	Drooling
9	HP:0002015	Dysphagia NAMDC: Dysphagia
10	HP:0001371	Flexion contracture
11	HP:0001290	Generalized hypotonia
12	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
13	HP:0001263	Global developmental delay NAMDC: Mental retardation
14	HP:0040082	Happy demeanor
15	HP:0002487	Hyperkinesis
16	HP:0006887	Intellectual disability, progressive
17	HP:0010864	Intellectual disability, severe
18	HP:0000276	Long face
19	HP:0003189	Long nose
20	HP:0006794	Loss of ability to walk in first decade
21	HP:0000400	Macrotia
22	HP:0000303	Mandibular prognathia
23	HP:0000252	Microcephaly
24	HP:0002300	Mutism
25	HP:0000774	Narrow chest
26	HP:0000275	Narrow face
27	HP:0002529	Neuronal loss in central nervous system
28	HP:0000194	Open mouth
29	HP:0000602	Ophthalmoplegia
30	HP:0007207	Photosensitive tonic-clonic seizures
31	HP:0003202	Skeletal muscle atrophy
32	HP:0002360	Sleep disturbance
33	HP:0001238	Slender finger
34	HP:0000486	Strabismus
35	HP:0000574	Thick eyebrow
36	HP:0002078	Truncal ataxia
37	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.11:g.(?_135985483)_(136024503_?)dup	10479	SLC9A6	Uncertain significance	-1	RCV001032238;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067642	135106662	-1	-
NM_001379110.1(SLC9A6):c.-57+26A>G	10479	SLC9A6	Uncertain significance	782640388	RCV001058825\|RCV001374987;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	X	135067662	135067662	X:g.135067662A>G	-
NC_000023.10:g.(?_135067662)_(135068006_?)dup	10479	SLC9A6	Uncertain significance	-1	RCV001942982;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067662	135068006	-1	-
NM_001379110.1(SLC9A6):c.-57+27T>G	10479	SLC9A6	Uncertain significance	1006154022	RCV000433846\|RCV001507050\|RCV002519559;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135067663	135067663	X:g.135067663T>G	ClinGen:CA16608696	CN517202 not provided;
NM_001379110.1(SLC9A6):c.-57+30C>T	10479	SLC9A6	Uncertain significance	1334602422	RCV000762672\|RCV001855958;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067666	135067666	NC_000023.10:g.135067666C>T	-
NM_001379110.1(SLC9A6):c.-57+32C>T	10479	SLC9A6	Uncertain significance	1556614701	RCV000813836\|RCV003413636;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|	X	135067668	135067668	X:g.135067668C>T	-
NM_001379110.1(SLC9A6):c.-57+33G>T	10479	SLC9A6	Uncertain significance	1016216648	RCV000694032;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067669	135067669	X:g.135067669G>T	-	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-57+34G>C	10479	SLC9A6	Likely benign	1556614706	RCV001499423;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067670	135067670	135067670	-
NM_001379110.1(SLC9A6):c.-57+43G>C	10479	SLC9A6	Uncertain significance	1012532789	RCV000523044\|RCV002528239;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067679	135067679	X:g.135067679G>C	ClinGen:CA336084217	CN169374 not specified;
NM_001379110.1(SLC9A6):c.-57+50G>T	10479	SLC9A6	Benign	201523857	RCV000147542\|RCV000224732\|RCV000462225\|RCV002312660;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135067686	135067686	X:g.135067686G>T	ClinGen:CA295170	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-57+50G>C	10479	SLC9A6	Uncertain significance	201523857	RCV001331523;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067686	135067686	135067686	-
NM_001379110.1(SLC9A6):c.-57+52A>G	10479	SLC9A6	Likely benign	1381680693	RCV002090688;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067688	135067688	135067688	-
NM_001379110.1(SLC9A6):c.-57+53C>T	10479	SLC9A6	Uncertain significance	2148129304	RCV002035174;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067689	135067689	135067689	-
NM_001379110.1(SLC9A6):c.-57+62C>T	10479	SLC9A6	Uncertain significance	1556614725	RCV001344185;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067698	135067698	135067698	-
NM_001379110.1(SLC9A6):c.-56-54G>T	10479	SLC9A6	Uncertain significance	-1	RCV003065137;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067708	135067708	NC_000023.10:g.135067708G>T	-
NM_001379110.1(SLC9A6):c.-56-43C>G	10479	SLC9A6	Uncertain significance	1556614733	RCV001988798;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067719	135067719	135067719	-
NM_001379110.1(SLC9A6):c.-56-36G>A	10479	SLC9A6	Uncertain significance	2089320091	RCV002024102;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067726	135067726	135067726	-
NM_001379110.1(SLC9A6):c.-56-35C>G	10479	SLC9A6	Benign	1282592417	RCV002132206;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067727	135067727	135067727	-
NM_001379110.1(SLC9A6):c.-56-32G>A	10479	SLC9A6	Likely benign	2148129449	RCV002177530;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067730	135067730	135067730	-
NM_001379110.1(SLC9A6):c.-56-31C>T	10479	SLC9A6	Uncertain significance	2148129457	RCV001975690\|RCV003128838;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135067731	135067731	135067731	-
NM_001379110.1(SLC9A6):c.-56-25C>G	10479	SLC9A6	Conflicting interpretations of pathogenicity	782396686	RCV000189404\|RCV001857654;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067737	135067737	X:g.135067737C>G	ClinGen:CA318510	CN169374 not specified;
NM_001379110.1(SLC9A6):c.-56-21C>A	10479	SLC9A6	Uncertain significance	782242879	RCV001209614\|RCV003398938;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|	X	135067741	135067741	X:g.135067741C>A	-
NM_001379110.1(SLC9A6):c.-56-17T>G	10479	SLC9A6	Likely benign	-1	RCV003034133;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067745	135067745	NC_000023.10:g.135067745T>G	-
NM_001379110.1(SLC9A6):c.-56-7C>A	10479	SLC9A6	Likely benign	-1	RCV002630898;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067755	135067755	NC_000023.10:g.135067755C>A	-
NM_001379110.1(SLC9A6):c.-56-4G>T	10479	SLC9A6	Uncertain significance	782312727	RCV001372571;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067758	135067758	135067758	-
NM_001379110.1(SLC9A6):c.-25C>T	10479	SLC9A6	Likely benign	-1	RCV002609249;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067793	135067793	NC_000023.10:g.135067793C>T	-
NM_001379110.1(SLC9A6):c.-20G>A	10479	SLC9A6	Uncertain significance	782736274	RCV000494024\|RCV001507028;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067798	135067798	X:g.135067798G>A	ClinGen:CA10524597	CN169374 not specified;
NM_001379110.1(SLC9A6):c.-19C>A	10479	SLC9A6	Likely benign	1030979223	RCV001427997;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067799	135067799	135067799	-
NM_001379110.1(SLC9A6):c.-16C>T	10479	SLC9A6	Likely benign	139299794	RCV000213002\|RCV000724400\|RCV001078789;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067802	135067802	X:g.135067802C>T	ClinGen:CA293620	CN169374 not specified;
NM_001379110.1(SLC9A6):c.-13A>C	10479	SLC9A6	Likely benign	-1	RCV002830170;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067805	135067805	NC_000023.10:g.135067805A>C	-
NM_001379110.1(SLC9A6):c.-9G>T	10479	SLC9A6	Likely benign	367724979	RCV000865182\|RCV001721224\|RCV002390500;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	135067809	135067809	X:g.135067809G>T	ClinGen:CA318535	CN169374 not specified;
NM_001379110.1(SLC9A6):c.-4A>G	10479	SLC9A6	Benign	782090744	RCV000419289\|RCV001507040;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067814	135067814	X:g.135067814A>G	ClinGen:CA10524601	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-1C>T	10479	SLC9A6	Likely benign	911499882	RCV001400757;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067817	135067817	135067817	-
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)	10479	SLC9A6	Uncertain significance	1556614802	RCV001238532;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067830	135067830	X:g.135067830A>C	-
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)	10479	SLC9A6	Likely benign	782296172	RCV000433575\|RCV001088949;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067832	135067832	X:g.135067832C>G	ClinGen:CA10524605	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln)	10479	SLC9A6	Uncertain significance	2148129792	RCV001981862;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067839	135067839	135067839	-
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)	10479	SLC9A6	Pathogenic	587784398	RCV000147540;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067844	135067844	NC_000023.10:g.135067844delG	ClinGen:CA173495	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)	10479	SLC9A6	Benign/Likely benign	781963863	RCV001521806\|RCV001703570;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135067874	135067874	X:g.135067874C>T	ClinGen:CA10524610	CN169374 not specified;
NM_001379110.1(SLC9A6):c.71_88del (p.Ile24_Leu29del)	10479	SLC9A6	Uncertain significance	1603184929	RCV000808896;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067881	135067898	X:g.135067881_135067898del	-
NM_001379110.1(SLC9A6):c.66G>A (p.Leu22=)	10479	SLC9A6	Likely benign	1230295623	RCV001411205;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067883	135067883	135067883	-
NM_001379110.1(SLC9A6):c.67C>G (p.Leu23Val)	10479	SLC9A6	Uncertain significance	-1	RCV002510626;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067884	135067884	NC_000023.10:g.135067884C>G	-
NM_001379110.1(SLC9A6):c.75C>T (p.Phe25=)	10479	SLC9A6	Likely benign	977361236	RCV002162468;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067892	135067892	135067892	-
NM_001379110.1(SLC9A6):c.78C>T (p.Ile26=)	10479	SLC9A6	Likely benign	-1	RCV002658414;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067895	135067895		-
NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)	10479	SLC9A6	Uncertain significance	2089324822	RCV001481702\|RCV001762696;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135067898	135067898	135067898	-
NM_001379110.1(SLC9A6):c.90C>T (p.Thr30=)	10479	SLC9A6	Likely benign	782806095	RCV002156477;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067907	135067907	135067907	-
NM_001379110.1(SLC9A6):c.113T>C (p.Leu38Pro)	10479	SLC9A6	Uncertain significance	1556614843	RCV000533095;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067930	135067930	X:g.135067930T>C	ClinGen:CA414606885	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.120G>A (p.Lys40=)	10479	SLC9A6	Likely benign	1301281396	RCV002539034;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067937	135067937	X:g.135067937G>A	-
NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)	10479	SLC9A6	Uncertain significance	1556614849	RCV000657963\|RCV002534264;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067947	135067947	X:g.135067947G>C	-	CN517202 not provided;
NM_001379110.1(SLC9A6):c.138C>G (p.Phe46Leu)	10479	SLC9A6	Uncertain significance	-1	RCV002441830\|RCV003102909;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067955	135067955	135067955	-
NM_001379110.1(SLC9A6):c.168T>C (p.Tyr56=)	10479	SLC9A6	Likely benign	782671441	RCV001391706;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067985	135067985	135067985	-
NM_001379110.1(SLC9A6):c.169+14C>G	10479	SLC9A6	Likely benign	1556614871	RCV000612479\|RCV002063108;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135068000	135068000	X:g.135068000C>G	ClinGen:CA658799867	CN169374 not specified;
NM_001379110.1(SLC9A6):c.170-11C>T	10479	SLC9A6	Likely benign	-1	RCV002923401;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076934	135076934	NC_000023.10:g.135076934C>T	-
NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val)	10479	SLC9A6	Likely pathogenic	2148143998	RCV001917519;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076945	135076945	135076945	-
NM_001379110.1(SLC9A6):c.206A>G (p.His69Arg)	10479	SLC9A6	Likely benign	1060502675	RCV000474987;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076981	135076981	NC_000023.10:g.135076981A>G	ClinGen:CA16616449	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)	10479	SLC9A6	Uncertain significance	587784400	RCV000147543;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076986	135076986	NC_000023.10:g.135076986C>T	ClinGen:CA173498	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu)	10479	SLC9A6	Uncertain significance	782469016	RCV001362877;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076987	135076987	135076987	-
NM_001379110.1(SLC9A6):c.213G>A (p.Pro71=)	10479	SLC9A6	Likely benign	782600941	RCV000920546;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076988	135076988	X:g.135076988G>A	-
NM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile)	10479	SLC9A6	Benign	781798443	RCV002194334;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135076995	135076995	135076995	-
NM_001379110.1(SLC9A6):c.228T>C (p.Asn76=)	10479	SLC9A6	Likely benign	782529317	RCV000468100\|RCV001474069\|RCV002356745;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135077003	135077003	NC_000023.10:g.135077003T>C	ClinGen:CA10524644	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn)	10479	SLC9A6	Uncertain significance	782644535	RCV001894327;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135077008	135077008	135077008	-
NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn)	10479	SLC9A6	Uncertain significance	1451637533	RCV001370795;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135077014	135077014	135077014	-
NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)	10479	SLC9A6	Uncertain significance	587784401	RCV000147544;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135077031	135077031	NC_000023.10:g.135077031A>G	ClinGen:CA173500	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.261A>G (p.Pro87=)	10479	SLC9A6	Likely benign	2148144184	RCV002196075;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135077036	135077036	135077036	-
NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala)	10479	SLC9A6	Uncertain significance	372003999	RCV000520347\|RCV001300841;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135077037	135077037	X:g.135077037A>G	ClinGen:CA10524646	CN169374 not specified;
NM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg)	10479	SLC9A6	Likely benign	2148144215	RCV002090658;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135077065	135077065	135077065	-
NC_000023.10:g.(?_135080247)_(135126903_?)dup	10479	SLC9A6	Uncertain significance	-1	RCV003109507;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080247	135126903		-
NC_000023.10:g.(?_135080257)_(135292184_?)dup	10479	SLC9A6	Uncertain significance	-1	RCV001339208;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080257	135292184	-1	-
NM_001379110.1(SLC9A6):c.370-3C>T	10479	SLC9A6	Uncertain significance	2148149795	RCV001888411;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080264	135080264	135080264	-
NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe)	10479	SLC9A6	Uncertain significance	1556616820	RCV002018407;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080267	135080267	135080267	-
NM_001379110.1(SLC9A6):c.372T>A (p.Val124=)	10479	SLC9A6	Likely benign	2148149814	RCV001436629;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080269	135080269	135080269	-
NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu)	10479	SLC9A6	Uncertain significance	1603198044	RCV000802213;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080290	135080290	X:g.135080290T>G	-
NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val)	10479	SLC9A6	Uncertain significance	2089531604	RCV001899205;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080297	135080297	135080297	-
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)	10479	SLC9A6	Pathogenic	1603198063	RCV000770998;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080315	135080316	X:g.135080315_135080316del	-
NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys)	10479	SLC9A6	Uncertain significance	1556616834	RCV000543846\|RCV002464255;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:CN517202	X	135080322	135080322	X:g.135080322A>G	ClinGen:CA414749819	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC	10479	SLC9A6	Pathogenic	730882187	RCV000012233;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080347	135080348	NC_000023.10:g.135080347_135080348delinsCC	ClinGen:CA121511,OMIM:300231.0003	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.447+20A>C	10479	SLC9A6	Likely benign	2089532535	RCV002194502;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080364	135080364	135080364	-
NM_001379110.1(SLC9A6):c.448-6dup	10479	SLC9A6	Benign/Likely benign	375038684	RCV001536470\|RCV001810086\|RCV002334587;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135080623	135080624	135080623	-
NM_001379110.1(SLC9A6):c.448-7_448-6dup	10479	SLC9A6	Benign	375038684	RCV001658705\|RCV002073031;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080623	135080624	135080623	-
NM_001379110.1(SLC9A6):c.448-6del	10479	SLC9A6	Benign	375038684	RCV000322967\|RCV002059160;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080624	135080624	X:g.135080624_135080624del	ClinGen:CA10524670	CN169374 not specified;
NM_001379110.1(SLC9A6):c.448-9_459del	10479	SLC9A6	Likely pathogenic	-1	RCV002466304;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080625	135080645	NC_000023.10:g.135080632_135080652del	-
NM_001379110.1(SLC9A6):c.448-9_448-8insC	10479	SLC9A6	Likely benign	781959681	RCV001485146;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080632	135080633	135080632	-
NM_001379110.1(SLC9A6):c.448-8_448-7insG	10479	SLC9A6	Likely benign	782131315	RCV001426204;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080633	135080634	135080633	-
NM_001379110.1(SLC9A6):c.448-1G>A	10479	SLC9A6	Pathogenic	797044508	RCV000153971\|RCV001507037;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080640	135080640	X:g.135080640G>A	ClinGen:CA180441	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly)	10479	SLC9A6	Uncertain significance	796053280	RCV000189406\|RCV001229044;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080641	135080641	X:g.135080641A>G	ClinGen:CA318515	CN169374 not specified;
NM_001379110.1(SLC9A6):c.452_453del (p.His151fs)	10479	SLC9A6	Pathogenic	730882188	RCV000012234;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080645	135080646	X:g.135080645_135080646del	ClinGen:CA121512,OMIM:300231.0004	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu)	10479	SLC9A6	Conflicting interpretations of pathogenicity	796053275	RCV000189401\|RCV001342805;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080645	135080645	X:g.135080645A>T	ClinGen:CA318501	CN169374 not specified;
NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln)	10479	SLC9A6	Uncertain significance	782262088	RCV001313713;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080654	135080654	135080654	-
NM_001379110.1(SLC9A6):c.471G>A (p.Gly157=)	10479	SLC9A6	Likely benign	1292220528	RCV001430645;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080664	135080664	135080664	-
NM_001379110.1(SLC9A6):c.471G>T (p.Gly157=)	10479	SLC9A6	Likely benign	1292220528	RCV002215587;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080664	135080664	135080664	-
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)	10479	SLC9A6	Benign	144316388	RCV000128150\|RCV000231992\|RCV002312941;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135080667	135080667	X:g.135080667T>C	ClinGen:CA293611	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.475A>G (p.Ile159Val)	10479	SLC9A6	Uncertain significance	1395246172	RCV001552734\|RCV002568344;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080668	135080668	135080668	-
NM_001379110.1(SLC9A6):c.483A>G (p.Ala161=)	10479	SLC9A6	Likely benign	781961294	RCV000813072;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080676	135080676	X:g.135080676A>G	-
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)	10479	SLC9A6	Uncertain significance	796053281	RCV000189407\|RCV001051665;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080680	135080680	X:g.135080680G>A	ClinGen:CA318518	CN169374 not specified;
NM_001379110.1(SLC9A6):c.492T>C (p.Phe164=)	10479	SLC9A6	Likely benign	-1	RCV003017107;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080685	135080685		-
NM_001379110.1(SLC9A6):c.504A>G (p.Ala168=)	10479	SLC9A6	Likely benign	782010755	RCV001408950;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080697	135080697	135080697	-
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)	10479	SLC9A6	Uncertain significance	-1	RCV001270374\|RCV002541646;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135080699	135080699	X:g.135080699T>A	-
NM_001379110.1(SLC9A6):c.516C>T (p.Phe172=)	10479	SLC9A6	Likely benign	1423014570	RCV000554011\|RCV000609426;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:CN169374	X	135080709	135080709	X:g.135080709C>T	ClinGen:CA518744234	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)	10479	SLC9A6	Conflicting interpretations of pathogenicity	782117973	RCV000871818\|RCV002065336\|RCV002358707;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135080710	135080710	X:g.135080710G>A	ClinGen:CA10524682	CN169374 not specified;
NM_001379110.1(SLC9A6):c.524+3A>G	10479	SLC9A6	Conflicting interpretations of pathogenicity	372679456	RCV000993018\|RCV001202051;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080720	135080720	X:g.135080720A>G	-
NM_001379110.1(SLC9A6):c.524+8_524+12del	10479	SLC9A6	Likely benign	782802858	RCV002125767;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135080723	135080727	135080722	-
NM_001379110.1(SLC9A6):c.525G>A (p.Gly175=)	10479	SLC9A6	Uncertain significance	143859232	RCV001369847;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081015	135081015	135081015	-
NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val)	10479	SLC9A6	Uncertain significance	587784402	RCV000147545\|RCV003436957;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135081019	135081019	NC_000023.10:g.135081019A>G	ClinGen:CA173502	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile)	10479	SLC9A6	Uncertain significance	186896302	RCV001872197;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081024	135081024	135081024	-
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)	10479	SLC9A6	Uncertain significance	782759179	RCV001212192\|RCV001251651;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|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	135081038	135081038	X:g.135081038C>T	-
NM_001379110.1(SLC9A6):c.549G>A (p.Thr183=)	10479	SLC9A6	Likely benign	782386487	RCV000929323\|RCV002354783;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135081039	135081039	X:g.135081039G>A	-
NM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile)	10479	SLC9A6	Uncertain significance	1556616995	RCV000697166;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081049	135081049	NC_000023.10:g.135081049G>A	-	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met)	10479	SLC9A6	Uncertain significance	372747388	RCV000189421\|RCV001370517;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081053	135081053	X:g.135081053C>T	ClinGen:CA318544	CN169374 not specified;
NM_001379110.1(SLC9A6):c.564G>A (p.Thr188=)	10479	SLC9A6	Benign/Likely benign	782216766	RCV001511059\|RCV001581164;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135081054	135081054	135081054	-
NM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg)	10479	SLC9A6	Uncertain significance	-1	RCV002928334;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081059	135081059	NC_000023.10:g.135081059A>G	-
NM_001379110.1(SLC9A6):c.594A>G (p.Thr198=)	10479	SLC9A6	Likely benign	782072028	RCV001417226;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081084	135081084	135081084	-
NM_001379110.1(SLC9A6):c.603A>G (p.Leu201=)	10479	SLC9A6	Likely benign	1060504685	RCV001453308;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081093	135081093	NC_000023.10:g.135081093A>G	ClinGen:CA16616615	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.609T>C (p.Phe203=)	10479	SLC9A6	Likely benign	-1	RCV002750286;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081099	135081099		-
NM_001379110.1(SLC9A6):c.630T>C (p.Thr210=)	10479	SLC9A6	Likely benign	1556617019	RCV001464704;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081120	135081120	135081120	-
NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala)	10479	SLC9A6	Uncertain significance	2148151197	RCV001360212\|RCV001751705;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135081124	135081124	135081124	-
NM_001379110.1(SLC9A6):c.637+12del	10479	SLC9A6	Likely benign	782060423	RCV002204603;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081139	135081139	135081138	-
NM_001379110.1(SLC9A6):c.637+16G>A	10479	SLC9A6	Likely benign	-1	RCV002838322;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135081143	135081143	NC_000023.10:g.135081143G>A	-
NM_001379110.1(SLC9A6):c.638-10dup	10479	SLC9A6	Benign	2089592364	RCV002117795;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084252	135084253	135084252	-
NM_001379110.1(SLC9A6):c.638-8C>T	10479	SLC9A6	Likely benign	2148156491	RCV001424896;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084259	135084259	135084259	-
NM_001379110.1(SLC9A6):c.638-5A>G	10479	SLC9A6	Conflicting interpretations of pathogenicity	1057520615	RCV000432454\|RCV001504630\|RCV002311451;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135084262	135084262	X:g.135084262A>G	ClinGen:CA16608280	CN169374 not specified;
NM_001379110.1(SLC9A6):c.638-2A>G	10479	SLC9A6	Likely pathogenic	-1	RCV003061645;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084265	135084265	NC_000023.10:g.135084265A>G	-
NM_001379110.1(SLC9A6):c.638-1G>A	10479	SLC9A6	Likely pathogenic	2148156504	RCV002027540;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084266	135084266	135084266	-
NM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val)	10479	SLC9A6	Uncertain significance	782677140	RCV000800387;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084281	135084281	X:g.135084281A>G	-
NM_001379110.1(SLC9A6):c.657C>T (p.Phe219=)	10479	SLC9A6	Likely benign	-1	RCV003035804;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084286	135084286		-
NM_001379110.1(SLC9A6):c.660C>T (p.His220=)	10479	SLC9A6	Likely benign	-1	RCV003088415;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084289	135084289		-
NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly)	10479	SLC9A6	Uncertain significance	-1	RCV002380232\|RCV003103392;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084303	135084303	135084303	-
NM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe)	10479	SLC9A6	Uncertain significance	2148156546	RCV001916190;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084311	135084311	135084311	-
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del)	10479	SLC9A6	Likely pathogenic	1603201557	RCV000990950;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084320	135084322	X:g.135084320_135084322del	-
NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del)	10479	SLC9A6	Pathogenic	886037619	RCV000012231;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084330	135084335	NC_000023.10:g.135084333_135084338del	ClinGen:CA10602351,OMIM:300231.0001	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.717T>C (p.Asn239=)	10479	SLC9A6	Likely benign	2089593239	RCV001423432;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084346	135084346	135084346	-
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs)	10479	SLC9A6	Pathogenic	1057519394	RCV000417039;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084354	135084354	X:g.135084354_135084354del	ClinGen:CA16044365	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.743+1G>A	10479	SLC9A6	Pathogenic/Likely pathogenic	1556617455	RCV000498280\|RCV000792492;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084373	135084373	NC_000023.10:g.135084373G>A	ClinGen:CA414750658	CN517202 not provided;
NM_001379110.1(SLC9A6):c.743+3_743+6del	10479	SLC9A6	Pathogenic	2148156632	RCV001553534\|RCV002032599;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084373	135084376	135084372	-
NM_001379110.1(SLC9A6):c.743+11G>C	10479	SLC9A6	Likely benign	1556617460	RCV002166259;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135084383	135084383	135084383	-
NM_001379110.1(SLC9A6):c.744-12T>C	10479	SLC9A6	Likely benign	-1	RCV003108537;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092589	135092589	NC_000023.10:g.135092589T>C	-
NM_001379110.1(SLC9A6):c.744-7T>C	10479	SLC9A6	Likely benign	1556618483	RCV001474550;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092594	135092594	X:g.135092594T>C	-
NM_001379110.1(SLC9A6):c.744-6C>T	10479	SLC9A6	Benign	17001258	RCV000147546\|RCV000473826;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092595	135092595	X:g.135092595C>T	ClinGen:CA295173	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.756A>G (p.Ala252=)	10479	SLC9A6	Likely benign	1556618492	RCV001406304;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092613	135092613	135092613	-
NM_001379110.1(SLC9A6):c.766G>C (p.Ala256Pro)	10479	SLC9A6	Uncertain significance	-1	RCV002594293;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092623	135092623	NC_000023.10:g.135092623G>C	-
NM_001379110.1(SLC9A6):c.775A>G (p.Asn259Asp)	10479	SLC9A6	Uncertain significance	-1	RCV002304927;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092632	135092632	135092632	-
NM_001379110.1(SLC9A6):c.801G>A (p.Ala267=)	10479	SLC9A6	Benign/Likely benign	185192141	RCV000128152\|RCV002055810;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092658	135092658	X:g.135092658G>A	ClinGen:CA293614	CN169374 not specified;
NM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr)	10479	SLC9A6	Uncertain significance	2148169885	RCV001982794;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092660	135092660	135092660	-
NM_001379110.1(SLC9A6):c.806dup (p.Lys270fs)	10479	SLC9A6	Pathogenic	2148169894	RCV001987775;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092661	135092662	135092661	-
NM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val)	10479	SLC9A6	Uncertain significance	-1	RCV003007936;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092671	135092671	NC_000023.10:g.135092671A>G	-
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)	10479	SLC9A6	Uncertain significance	-1	RCV001270393;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092678	135092678	X:g.135092678T>C	-
NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu)	10479	SLC9A6	Uncertain significance	797044779	RCV000179915\|RCV001542375;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092682	135092682	X:g.135092682C>G	ClinGen:CA247246	CN169374 not specified;
NM_001379110.1(SLC9A6):c.852A>T (p.Ala284=)	10479	SLC9A6	Likely benign	371472909	RCV000867618\|RCV001482709\|RCV002377283;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135092709	135092709	X:g.135092709A>T	ClinGen:CA10524733	CN169374 not specified;
NM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del)	10479	SLC9A6	Pathogenic	398122849	RCV000022841;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092713	135092721	X:g.135092713_135092721del	ClinGen:CA128786,OMIM:300231.0005	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.885+5C>T	10479	SLC9A6	Uncertain significance	2070901186	RCV001298393\|RCV001751571;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135092747	135092747	135092747	-
NM_001379110.1(SLC9A6):c.885+7T>G	10479	SLC9A6	Uncertain significance	886044788	RCV000350312\|RCV002518845;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092749	135092749	X:g.135092749T>G	ClinGen:CA10604106	CN169374 not specified;
NM_001379110.1(SLC9A6):c.885+10T>C	10479	SLC9A6	Likely benign	782141848	RCV002105512;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135092752	135092752	135092752	-
NM_001379110.1(SLC9A6):c.886-17A>G	10479	SLC9A6	Likely benign	2070950996	RCV002189683;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095091	135095091	135095091	-
NM_001379110.1(SLC9A6):c.886-1C>A	10479	SLC9A6	Pathogenic	149044510	RCV001784991;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095107	135095107	135095107	-
NM_001379110.1(SLC9A6):c.886G>A (p.Val296Met)	10479	SLC9A6	Uncertain significance	1556618832	RCV000532326;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095108	135095108	X:g.135095108G>A	ClinGen:CA414751479	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg)	10479	SLC9A6	Uncertain significance	2148173863	RCV001953106;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095124	135095124	135095124	-
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)	10479	SLC9A6	Pathogenic	398124224	RCV000081397\|RCV001507034;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095138	135095138	X:g.135095138C>T	ClinGen:CA222934	CN517202 not provided;
NM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp)	10479	SLC9A6	Uncertain significance	-1	RCV003017247;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095154	135095154	NC_000023.10:g.135095154G>A	-
NM_001379110.1(SLC9A6):c.933C>A (p.Gly311=)	10479	SLC9A6	Likely benign	1312175298	RCV002217167;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095155	135095155	135095155	-
NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)	10479	SLC9A6	Pathogenic	-1	RCV003051683;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095175	135095175	NC_000023.10:g.135095175G>A	-
NM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser)	10479	SLC9A6	Uncertain significance	2148173982	RCV001944253;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095181	135095181	135095181	-
NM_001379110.1(SLC9A6):c.960C>G (p.Thr320=)	10479	SLC9A6	Likely benign	1060504686	RCV001493415;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095182	135095182	NC_000023.10:g.135095182C>G	ClinGen:CA16616633	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)	10479	SLC9A6	Uncertain significance	2070952678	RCV001222469;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095193	135095193	X:g.135095193C>T	-
NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser)	10479	SLC9A6	Uncertain significance	1327086146	RCV001302383;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095204	135095204	135095204	-
NM_001379110.1(SLC9A6):c.991+1G>A	10479	SLC9A6	Likely pathogenic	-1	RCV002807277;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095214	135095214	NC_000023.10:g.135095214G>A	-
NM_001379110.1(SLC9A6):c.991+15C>G	10479	SLC9A6	Likely benign	2148174041	RCV002144092;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095228	135095228	135095228	-
NM_001379110.1(SLC9A6):c.992-3T>C	10479	SLC9A6	Uncertain significance	2070958568	RCV001245424;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095505	135095505	X:g.135095505T>C	-
NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp)	10479	SLC9A6	Pathogenic	782108464	RCV001004677;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095508	135095508	X:g.135095508G>A	-
NM_001379110.1(SLC9A6):c.1005A>G (p.Val335=)	10479	SLC9A6	Benign/Likely benign	782706500	RCV002067052\|RCV002316693;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135095521	135095521	NC_000023.10:g.135095521A>G	-
NM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=)	10479	SLC9A6	Uncertain significance	1556618901	RCV001969221;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095542	135095542	135095542	-
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)	10479	SLC9A6	Benign	142049079	RCV000147536\|RCV000475960\|RCV002312604;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135095545	135095545	X:g.135095545A>C	ClinGen:CA295164	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met)	10479	SLC9A6	Uncertain significance	2148174486	RCV001906210;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095553	135095553	135095553	-
NM_001379110.1(SLC9A6):c.1038G>A (p.Thr346=)	10479	SLC9A6	Likely benign	782783023	RCV000616075\|RCV001503135;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095554	135095554	X:g.135095554G>A	ClinGen:CA10524756	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1038G>T (p.Thr346=)	10479	SLC9A6	Likely benign	782783023	RCV000828607\|RCV001458153;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095554	135095554	X:g.135095554G>T	-
NM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met)	10479	SLC9A6	Uncertain significance	782819852	RCV001919797;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095571	135095571	135095571	-
NM_001379110.1(SLC9A6):c.1059G>A (p.Glu353=)	10479	SLC9A6	Benign	-1	RCV003071507;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095575	135095575		-
NM_001379110.1(SLC9A6):c.1080+10A>G	10479	SLC9A6	Benign	191388209	RCV002115697;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095606	135095606	135095606	-
NM_001379110.1(SLC9A6):c.1080+17A>G	10479	SLC9A6	Uncertain significance	2070960570	RCV001334542;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135095613	135095613	135095613	-
NM_001379110.1(SLC9A6):c.1080+80dup	10479	SLC9A6	Benign/Likely benign	35492327	RCV000990951\|RCV001559949;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:CN517202	X	135095664	135095665	X:g.135095664_135095665insA	-
NM_001379110.1(SLC9A6):c.1081-18T>C	10479	SLC9A6	Likely benign	376479501	RCV002160925;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098786	135098786	135098786	-
NM_001379110.1(SLC9A6):c.1081-8C>T	10479	SLC9A6	Likely benign	1060504684	RCV000473803;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098796	135098796	NC_000023.10:g.135098796C>T	ClinGen:CA16616616	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1081-7G>A	10479	SLC9A6	Likely benign	1556619293	RCV002083326;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098797	135098797	135098797	-
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)	10479	SLC9A6	Conflicting interpretations of pathogenicity	151178361	RCV000594833\|RCV000720971\|RCV001083801;	N	MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098806	135098806	NC_000023.10:g.135098806G>A	ClinGen:CA10524772	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1119C>T (p.Ile373=)	10479	SLC9A6	Conflicting interpretations of pathogenicity	140158476	RCV000862299\|RCV002064449;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098842	135098842	X:g.135098842C>T	-
NM_001379110.1(SLC9A6):c.1128C>T (p.Tyr376=)	10479	SLC9A6	Likely benign	-1	RCV002835132;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098851	135098851		-
NM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg)	10479	SLC9A6	Uncertain significance	-1	RCV003016526;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098855	135098855	NC_000023.10:g.135098855G>A	-
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)	10479	SLC9A6	Pathogenic/Likely pathogenic	1064793575	RCV000482382\|RCV001004015\|RCV001251111;	N	MedGen:C3661900\|6 conditions\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098865	135098866	X:g.135098865_135098866del	ClinGen:CA16621205	CN517202 not provided;
NM_001379110.1(SLC9A6):c.1143G>A (p.Leu381=)	10479	SLC9A6	Likely benign	782501407	RCV000418279\|RCV001396840;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098866	135098866	X:g.135098866G>A	ClinGen:CA16608700	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser)	10479	SLC9A6	Uncertain significance	782772247	RCV001360563;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098880	135098880	135098880	-
NM_001379110.1(SLC9A6):c.1164C>T (p.Val388=)	10479	SLC9A6	Likely benign	1556619315	RCV000555538;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098887	135098887	NC_000023.10:g.135098887C>T	ClinGen:CA518753566	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1170C>T (p.Asn390=)	10479	SLC9A6	Likely benign	781953296	RCV002186753;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098893	135098893	135098893	-
NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)	10479	SLC9A6	Likely pathogenic	-1	RCV003229503;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098909	135098909		-
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)	10479	SLC9A6	Likely pathogenic	-1	RCV002467421;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135098912	135098912	NC_000023.10:g.135098912del	-
NC_000023.10:g.(?_135104725)_(135106662_?)del	10479	SLC9A6	Pathogenic	-1	RCV003109506;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104725	135106662		-
NC_000023.10:g.(?_135104725)_(135104876_?)del	10479	SLC9A6	Pathogenic	-1	RCV003109508;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104725	135104876		-
NC_000023.10:g.(?_135104735)_(135106652_?)del	10479	SLC9A6	Pathogenic	-1	RCV001387709;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104735	135106652	-1	-
NM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val)	10479	SLC9A6	Uncertain significance	-1	RCV003110457;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104751	135104751	NC_000023.10:g.135104751A>G	-
NM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser)	10479	SLC9A6	Uncertain significance	2148186858	RCV001917326;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104773	135104773	135104773	-
NM_001379110.1(SLC9A6):c.1227T>C (p.Ile409=)	10479	SLC9A6	Likely benign	1556620031	RCV001475893;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104777	135104777	135104777	-
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs)	10479	SLC9A6	Pathogenic	2071147098	RCV001221608;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104792	135104795	X:g.135104792_135104795del	-
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)	10479	SLC9A6	Conflicting interpretations of pathogenicity	781918578	RCV001593567\|RCV001866179;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104819	135104819	135104819	-
NM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=)	10479	SLC9A6	Likely benign	142161862	RCV000189402\|RCV001456305\|RCV001721223;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135104837	135104837	X:g.135104837A>G	ClinGen:CA318504	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1306+1G>C	10479	SLC9A6	Uncertain significance	-1	RCV003151929;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104857	135104857		-
NM_001379110.1(SLC9A6):c.1306+8G>A	10479	SLC9A6	Benign/Likely benign	6654310	RCV000081394\|RCV001522385\|RCV002381402;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135104864	135104864	X:g.135104864G>A	ClinGen:CA285657	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1306+15_1306+18del	10479	SLC9A6	Likely benign	-1	RCV002866167;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104868	135104871	NC_000023.10:g.135104871_135104874del	-
NM_001379110.1(SLC9A6):c.1306+16C>G	10479	SLC9A6	Likely benign	-1	RCV002857546;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135104872	135104872	NC_000023.10:g.135104872C>G	-
NM_001379110.1(SLC9A6):c.1307-20C>T	10479	SLC9A6	Likely benign	-1	RCV002623244;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106469	135106469	NC_000023.10:g.135106469C>T	-
NM_001379110.1(SLC9A6):c.1307-19C>T	10479	SLC9A6	Likely benign	2148189827	RCV002163445;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106470	135106470	135106470	-
NM_001379110.1(SLC9A6):c.1307-17T>C	10479	SLC9A6	Likely benign	1212441893	RCV002101366;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106472	135106472	135106472	-
NM_001379110.1(SLC9A6):c.1307-12G>C	10479	SLC9A6	Benign/Likely benign	372153079	RCV001588095\|RCV002592487;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106477	135106477	135106477	-
NM_001379110.1(SLC9A6):c.1307-8C>T	10479	SLC9A6	Uncertain significance	-1	RCV003136827;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106481	135106481	NC_000023.10:g.135106481C>T	-
NM_001379110.1(SLC9A6):c.1307-1G>A	10479	SLC9A6	Pathogenic	1603215383	RCV000845288;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106488	135106488	X:g.135106488G>A	-
NM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp)	10479	SLC9A6	Likely pathogenic	1569525357	RCV000700654;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106498	135106498	NC_000023.10:g.135106498G>A	-	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1330G>A (p.Ala444Thr)	10479	SLC9A6	Uncertain significance	-1	RCV002631829;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106512	135106512	NC_000023.10:g.135106512G>A	-
NM_001379110.1(SLC9A6):c.1338C>T (p.Ala446=)	10479	SLC9A6	Likely benign	-1	RCV002881714;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106520	135106520		-
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter)	10479	SLC9A6	Pathogenic	122461162	RCV000012232\|RCV000627211;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135106524	135106524	X:g.135106524C>T	ClinGen:CA121507,OMIM:300231.0002	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met)	10479	SLC9A6	Uncertain significance	1229345478	RCV001925505\|RCV002557565\|RCV003438893;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	X	135106567	135106567	135106567	-
NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys)	10479	SLC9A6	Uncertain significance	2071193961	RCV001338290;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106602	135106602	135106602	-
NM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs)	10479	SLC9A6	Likely pathogenic	2148189993	RCV001775316;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106605	135106606	135106605	-
NM_001379110.1(SLC9A6):c.1428C>T (p.Gly476=)	10479	SLC9A6	Likely benign	782370742	RCV000525320;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106610	135106610	X:g.135106610C>T	ClinGen:CA10524813	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1434T>C (p.Thr478=)	10479	SLC9A6	Likely benign	1057520374	RCV000431608\|RCV001495795;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106616	135106616	X:g.135106616T>C	ClinGen:CA16608284	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)	10479	SLC9A6	Pathogenic/Likely pathogenic	2148190013	RCV001577049\|RCV002072270;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106618	135106619	135106618	-
NM_001379110.1(SLC9A6):c.1460+4A>G	10479	SLC9A6	Benign	180727016	RCV000081395\|RCV000990952\|RCV001705756\|RCV002311631;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	135106646	135106646	X:g.135106646A>G	ClinGen:CA285658	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1460+6T>C	10479	SLC9A6	Benign/Likely benign	781963949	RCV000981713\|RCV001719114;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135106648	135106648	X:g.135106648T>C	ClinGen:CA336248940	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1460+10A>G	10479	SLC9A6	Benign	185533973	RCV000128156\|RCV000463980;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135106652	135106652	X:g.135106652A>G	ClinGen:CA293617	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1551-19C>T	10479	SLC9A6	Likely benign	-1	RCV002918019;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112272	135112272	NC_000023.10:g.135112272C>T	-
NM_001379110.1(SLC9A6):c.1551-18T>G	10479	SLC9A6	Likely benign	782056708	RCV002111591;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112273	135112273	135112273	-
NM_001379110.1(SLC9A6):c.1551-11T>C	10479	SLC9A6	Likely benign	147479371	RCV001688664\|RCV002073243;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112280	135112280	135112280	-
NM_001379110.1(SLC9A6):c.1551-6C>T	10479	SLC9A6	Likely benign	-1	RCV002601680;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112285	135112285	NC_000023.10:g.135112285C>T	-
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)	10479	SLC9A6	Uncertain significance	782731165	RCV001213237;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112295	135112295	X:g.135112295G>A	-
NM_001379110.1(SLC9A6):c.1566A>C (p.Ser522=)	10479	SLC9A6	Likely benign	781843930	RCV001501049;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112306	135112306	X:g.135112306A>C	-
NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter)	10479	SLC9A6	Pathogenic	398123003	RCV000077787;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112313	135112313	X:g.135112313G>T	ClinGen:CA145508,OMIM:300231.0006	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1578C>T (p.His526=)	10479	SLC9A6	Likely benign	782430960	RCV001469062\|RCV002405101;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135112318	135112318	135112318	-
NM_001379110.1(SLC9A6):c.1581+11G>A	10479	SLC9A6	Benign	375145994	RCV000128157\|RCV002055811;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112332	135112332	X:g.135112332G>A	ClinGen:CA293618	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1581+15T>C	10479	SLC9A6	Likely benign	990491678	RCV002096719;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112336	135112336	135112336	-
NM_001379110.1(SLC9A6):c.1581+17G>A	10479	SLC9A6	Likely benign	917623322	RCV000841339\|RCV002536130;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135112338	135112338	X:g.135112338G>A	-
NM_001379110.1(SLC9A6):c.1582-9T>C	10479	SLC9A6	Likely benign	782039050	RCV002179477;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115564	135115564	135115564	-
NM_001379110.1(SLC9A6):c.1582-3C>T	10479	SLC9A6	Benign	563279759	RCV000194620\|RCV000540036\|RCV001729404;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135115570	135115570	X:g.135115570C>T	ClinGen:CA208905	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)	10479	SLC9A6	Uncertain significance	2071360759	RCV001223382;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115573	135115573	X:g.135115573G>A	-
NM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr)	10479	SLC9A6	Uncertain significance	782145804	RCV000189422\|RCV001346203;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115579	135115579	X:g.135115579C>A	ClinGen:CA318547	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala)	10479	SLC9A6	Uncertain significance	782145804	RCV002038715;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115579	135115579	135115579	-
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs)	10479	SLC9A6	Pathogenic	1603219805	RCV000995874;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115588	135115592	X:g.135115588_135115592del	-
NM_001379110.1(SLC9A6):c.1636C>T (p.Arg546Trp)	10479	SLC9A6	Uncertain significance	-1	RCV002639261;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115627	135115627	NC_000023.10:g.135115627C>T	-
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)	10479	SLC9A6	Benign/Likely benign	146263125	RCV000174756\|RCV000223989\|RCV001080901\|RCV001251650\|RCV002312605;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotyp	X	135115628	135115628	X:g.135115628G>A	ClinGen:CA302758	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1638G>T (p.Arg546=)	10479	SLC9A6	Uncertain significance	2148201776	RCV002017677;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115629	135115629	135115629	-
NM_001379110.1(SLC9A6):c.1638G>A (p.Arg546=)	10479	SLC9A6	Likely benign	2148201776	RCV002143959;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115629	135115629	135115629	-
NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs)	10479	SLC9A6	Pathogenic	2148201789	RCV002012056;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115634	135115634	135115633	-
NM_001379110.1(SLC9A6):c.1661+28dup	10479	SLC9A6	Benign	376371956	RCV002124929;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115669	135115670	135115669	-
NM_001379110.1(SLC9A6):c.1661+18A>G	10479	SLC9A6	Likely benign	782141247	RCV002195275;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115670	135115670	135115670	-
NM_001379110.1(SLC9A6):c.1661+28del	10479	SLC9A6	Benign	376371956	RCV002129799;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135115670	135115670	135115669	-
NM_001379110.1(SLC9A6):c.1662-4G>A	10479	SLC9A6	Benign	188072063	RCV000147538\|RCV000228298\|RCV000857967\|RCV002312606;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	135122231	135122231	X:g.135122231G>A	ClinGen:CA173494	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys)	10479	SLC9A6	Uncertain significance	-1	RCV002607378;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122237	135122237	NC_000023.10:g.135122237A>G	-
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)	10479	SLC9A6	Benign/Likely benign	2307131	RCV000147539\|RCV000460704\|RCV002312607;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135122262	135122262	X:g.135122262C>T	ClinGen:CA295167	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1690G>A (p.Gly564Arg)	10479	SLC9A6	Uncertain significance	782196157	RCV001928164;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122263	135122263	135122263	-
NM_001379110.1(SLC9A6):c.1698G>A (p.Pro566=)	10479	SLC9A6	Likely benign	1060504687	RCV001472348;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122271	135122271	NC_000023.10:g.135122271G>A	ClinGen:CA16616635	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe)	10479	SLC9A6	Uncertain significance	149360465	RCV001325395;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122284	135122284	135122284	-
NM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly)	10479	SLC9A6	Uncertain significance	-1	RCV003040509;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122291	135122291	NC_000023.10:g.135122291C>G	-
NM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr)	10479	SLC9A6	Uncertain significance	2148211264	RCV001907739;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122294	135122294	135122294	-
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)	10479	SLC9A6	Uncertain significance	2071482037	RCV001233445;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122300	135122300	X:g.135122300G>A	-
NM_001379110.1(SLC9A6):c.1728A>G (p.Gly576=)	10479	SLC9A6	Likely benign	2148211280	RCV001490467;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122301	135122301	135122301	-
NM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=)	10479	SLC9A6	Likely benign	375760367	RCV001436660\|RCV001655724;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MedGen:C3661900	X	135122307	135122307	135122307	-
NM_001379110.1(SLC9A6):c.1738A>T (p.Arg580Trp)	10479	SLC9A6	Uncertain significance	144661402	RCV001586713\|RCV002573338;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122311	135122311	135122311	-
NM_001379110.1(SLC9A6):c.1746C>G (p.Leu582=)	10479	SLC9A6	Likely benign	-1	RCV003015159;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122319	135122319		-
NM_001379110.1(SLC9A6):c.1764C>T (p.Tyr588=)	10479	SLC9A6	Likely benign	2071482902	RCV001435193;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122337	135122337	135122337	-
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys)	10479	SLC9A6	Uncertain significance	1556622379	RCV001303447;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122338	135122338	135122338	-
NM_001379110.1(SLC9A6):c.1767+9G>A	10479	SLC9A6	Likely benign	-1	RCV002999557;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122349	135122349	NC_000023.10:g.135122349G>A	-
NM_001379110.1(SLC9A6):c.1767+12T>G	10479	SLC9A6	Likely benign	-1	RCV002756541;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135122352	135122352	NC_000023.10:g.135122352T>G	-
NM_001379110.1(SLC9A6):c.1768-6A>G	10479	SLC9A6	Likely benign	1556623179	RCV000501576\|RCV001461996;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126605	135126605	NC_000023.10:g.135126605A>G	ClinGen:CA644626142	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His)	10479	SLC9A6	Uncertain significance	2071563497	RCV001313742;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126611	135126611	135126611	-
NM_001379110.1(SLC9A6):c.1770C>T (p.Asn590=)	10479	SLC9A6	Likely benign	-1	RCV002770513;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126613	135126613		-
NM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val)	10479	SLC9A6	Uncertain significance	1556623185	RCV002266689;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126657	135126657	135126657	-
NM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn)	10479	SLC9A6	Uncertain significance	1401623269	RCV001889808;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126669	135126669	135126669	-
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)	10479	SLC9A6	Uncertain significance	2071564662	RCV001237236;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126675	135126675	X:g.135126675C>T	-
NM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=)	10479	SLC9A6	Likely benign	782629258	RCV000871440\|RCV002317633;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135126676	135126676	NC_000023.10:g.135126676A>T	-
NM_001379110.1(SLC9A6):c.1839A>T (p.Gly613=)	10479	SLC9A6	Likely benign	1556623192	RCV001447300;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126682	135126682	135126682	-
NM_001379110.1(SLC9A6):c.1844C>T (p.Ser615Phe)	10479	SLC9A6	Likely benign	782178607	RCV001446311;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126687	135126687	135126687	-
NM_001379110.1(SLC9A6):c.1857T>C (p.Thr619=)	10479	SLC9A6	Likely benign	398124223	RCV000081396\|RCV003105788;	N	MedGen:CN169374\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126700	135126700	X:g.135126700T>C	ClinGen:CA222931	CN169374 not specified;
NM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu)	10479	SLC9A6	Likely benign	782442071	RCV001394571\|RCV002413932;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|MeSH:D030342,MedGen:C0950123	X	135126705	135126705	135126705	-
NM_001379110.1(SLC9A6):c.1863G>A (p.Pro621=)	10479	SLC9A6	Likely benign	782665428	RCV000713359\|RCV002534518;	N	MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126706	135126706	NC_000023.10:g.135126706G>A	-
NM_001379110.1(SLC9A6):c.1869A>T (p.Thr623=)	10479	SLC9A6	Likely benign	2071565905	RCV002137043;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126712	135126712	135126712	-
NM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr)	10479	SLC9A6	Uncertain significance	-1	RCV002903632;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126714	135126714	NC_000023.10:g.135126714C>A	-
NM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly)	10479	SLC9A6	Uncertain significance	558960349	RCV000646195;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126716	135126716	NC_000023.10:g.135126716A>G	ClinGen:CA336249943	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1875C>T (p.Ser625=)	10479	SLC9A6	Likely benign	-1	RCV003069840;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126718	135126718		-
NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr)	10479	SLC9A6	Uncertain significance	1556623211	RCV001342341;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126719	135126719	135126719	-
NM_001379110.1(SLC9A6):c.1887A>G (p.Arg629=)	10479	SLC9A6	Benign	782350079	RCV002185126;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126730	135126730	135126730	-
NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)	10479	SLC9A6	Uncertain significance	-1	RCV003136828;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126734	135126734	NC_000023.10:g.135126734A>G	-
NM_001379110.1(SLC9A6):c.1900A>G (p.Ser634Gly)	10479	SLC9A6	Likely benign	-1	RCV003065882;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126743	135126743	NC_000023.10:g.135126743A>G	-
NM_001379110.1(SLC9A6):c.1922G>A (p.Arg641Gln)	10479	SLC9A6	Benign	781912974	RCV001516540;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126765	135126765	135126765	-
NM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys)	10479	SLC9A6	Uncertain significance	2071567769	RCV001035156;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126777	135126777	X:g.135126777T>G	-
NM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile)	10479	SLC9A6	Uncertain significance	-1	RCV002932680;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126794	135126794	NC_000023.10:g.135126794G>A	-
NM_001379110.1(SLC9A6):c.1953C>T (p.Val651=)	10479	SLC9A6	Likely benign	-1	RCV002810276;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126796	135126796		-
NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr)	10479	SLC9A6	Uncertain significance	2071568073	RCV001919584;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126798	135126798	135126798	-
NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu)	10479	SLC9A6	Uncertain significance	1177738754	RCV001372697;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126801	135126801	135126801	-
NM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln)	10479	SLC9A6	Uncertain significance	1177738754	RCV001995111;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126801	135126801	135126801	-
NM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile)	10479	SLC9A6	Uncertain significance	782730126	RCV002001282;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126826	135126826	135126826	-
NM_001379110.1(SLC9A6):c.1992T>G (p.Ser664=)	10479	SLC9A6	Likely benign	782053418	RCV002168293;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126835	135126835	135126835	-
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)	10479	SLC9A6	Uncertain significance	2071569462	RCV001216484;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126839	135126839	X:g.135126839C>T	-
NM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu)	10479	SLC9A6	Uncertain significance	782228236	RCV002038025;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126843	135126843	135126843	-
NM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=)	10479	SLC9A6	Likely benign	782708610	RCV000295638\|RCV001516730;	N	MedGen:C3661900\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126844	135126844	X:g.135126844G>A	ClinGen:CA10524885	CN169374 not specified;
NM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser)	10479	SLC9A6	Uncertain significance	370119753	RCV001933537;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126849	135126849	135126849	-
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)	10479	SLC9A6	Pathogenic	587784399	RCV000147541;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126855	135126855	NC_000023.10:g.135126855T>G	ClinGen:CA173496	C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)	10479	SLC9A6	Uncertain significance	2071570215	RCV001319777;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126861	135126861	135126861	-
NM_001379110.1(SLC9A6):c.2019T>C (p.Asn673=)	10479	SLC9A6	Likely benign	1603225936	RCV002143900;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126862	135126862	135126862	-
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)	10479	SLC9A6	Conflicting interpretations of pathogenicity	886044780	RCV000316927\|RCV000724968\|RCV001321181;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126864	135126864	X:g.135126864C>T	ClinGen:CA10603972	CN169374 not specified;
NM_001379110.1(SLC9A6):c.2022G>A (p.Thr674=)	10479	SLC9A6	Benign	781885129	RCV001510862;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126865	135126865	135126865	-
NM_001379110.1(SLC9A6):c.2031T>A (p.Gly677=)	10479	SLC9A6	Likely benign	1603225948	RCV001466320;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126874	135126874	X:g.135126874T>A	-
NM_001379110.1(SLC9A6):c.2039A>G (p.Ter680=)	10479	SLC9A6	Uncertain significance	-1	RCV002858104;	N	MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135126882	135126882	NC_000023.10:g.135126882A>G	-
NM_001379110.1(SLC9A6):c.*8A>T	10479	SLC9A6	Benign	200171451	RCV000128162\|RCV000715114\|RCV000861304\|RCV001251649;	N	MedGen:CN169374\|MedGen:C2711754\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotyp	X	135126891	135126891	X:g.135126891A>T	ClinGen:CA293619	CN169374 not specified;
NC_000023.10:g.(?_135067662)_(136652229_?)del	-1	subset of 12 genes: CD40LG:SLC9A6:ZIC3	Pathogenic	-1	RCV001956452\|RCV001956451\|RCV003107929;	N	MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450\|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230, Orphanet:101088\|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278	X	135067662	136652229	-1	-

MSeqDR Portal

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