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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: Esophageal Neoplasms (D004938)
Parent Node: Keratoderma, Palmoplantar (D007645)
..Starting node ..Keratosis palmoplantaris with esophageal cancer (C536164)
Child Nodes:
Sister Nodes:
..Acrokeratoelastoidosis of Costa (C535653)
..Alopecia congenita keratosis palmoplantaris (C537050)
..Basaran Yilmaz syndrome (C537660)
..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..COLE DISEASE (OMIM:615522)
..Corneodermatoosseous syndrome (C536444)
..ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Keratoderma, Palmoplantar, Diffuse (D015776) 7
..Keratoderma, Palmoplantar, Norrbotten Recessive Type (C565454)
..Keratosis focal palmoplantar gingival (C536157)
..Keratosis Palmaris et Plantaris with Clinodactyly (C563646)
..Keratosis palmoplantaris papulosa (C536161)
..Keratosis palmoplantaris striata 1 (C536162)
..Keratosis palmoplantaris striata 3 (C536163)
..Keratosis Palmoplantaris Striata II (C565102)
..Keratosis palmoplantaris with esophageal cancer (C536164)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Naegeli syndrome (C538331)
..Naxos disease (C538346)
..Palmoplantar Hyperkeratosis And True Hermaphroditism (C567165)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
..Palmoplantar Keratoderma with Deafness (C536152)
..Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads (C564171)
..PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES (OMIM:614594)
..PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED (OMIM:300918)
..PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
..Papillon-Lefevre Disease (D010214) 2
..Patel Bixler syndrome (C536306)
..Porokeratosis punctata palmaris et plantaris (C536338)
..Powell Venencie Gordon syndrome (C538358)
..Schopf-Schulz-Passarge Syndrome (C565607)
..Stern Lubinsky Durrie syndrome (C537488)
..Vohwinkel syndrome (C536457)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6665

Name:

Keratosis palmoplantaris with esophageal cancer

Definition:

Alternative IDs:

OMIM:148500

ParentIDs:

MESH:D004938|MESH:D007645

TreeNumbers:

C04.588.274.476.205/C536164 |C04.588.443.353/C536164 |C06.301.371.205/C536164 |C06.405.117.430/C536164 |C06.405.249.205/C536164 |C16.320.850.475/C536164 |C17.800.428.435/C536164 |C17.800.827.475/C536164

Synonyms:

Howell Evans syndrome |Keratosis Palmaris Et Plantaris With Esophageal Cancer |PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER |TOC |Tylosis with esophageal cancer

Slim Mappings:

Cancer|Digestive system disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C536164
MeSH: C536164
OMIM: 148500;
MSeqDR :
Genes: RHBDF2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000153	Abnormality of the mouth
3	HP:0007447	Diffuse palmoplantar hyperkeratosis
4	HP:0011459	Esophageal carcinoma
5	HP:0002664	Neoplasm
6	HP:0001036	Parakeratosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_024599.5(RHBDF2):c.*742A>C	79651	RHBDF2	Benign	rs7221225	RCV000344587;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74466973	74466973	17:g.74466973T>G	ClinGen:CA10654567	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*726T>G	79651	RHBDF2	Uncertain significance	rs886053461	RCV000287928;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74466989	74466989	17:g.74466989A>C	ClinGen:CA10650243	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*711A>G	79651	RHBDF2	Benign	rs137910466	RCV000342845;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467004	74467004	17:g.74467004T>C	ClinGen:CA10651051	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*703G>A	79651	RHBDF2	Benign	rs576948274	RCV001122104;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467012	74467012	17:g.74467012C>T	-
NM_001005498.4(RHBDF2):c.*702C>G	79651	RHBDF2	Uncertain significance	rs886053462	RCV000393536;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467013	74467013	17:g.74467013G>C	ClinGen:CA10650245	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*698C>G	79651	RHBDF2	Benign	rs8150	RCV000284468;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467017	74467017	17:g.74467017G>C	ClinGen:CA10651052	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*642G>A	79651	RHBDF2	Uncertain significance	rs886053463	RCV000339242;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467073	74467073	17:g.74467073C>T	ClinGen:CA10640681	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*619A>G	79651	RHBDF2	Benign	rs2289802	RCV000405765;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467096	74467096	17:g.74467096T>C	ClinGen:CA10646893	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*606C>T	79651	RHBDF2	Uncertain significance	rs2073539386	RCV001122105;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467109	74467109	17:g.74467109G>A	-
NM_001005498.4(RHBDF2):c.*590C>T	79651	RHBDF2	Uncertain significance	rs774762832	RCV001122106;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467125	74467125	17:g.74467125G>A	-
NM_001005498.4(RHBDF2):c.*580C>T	79651	RHBDF2	Benign	rs111924263	RCV000299665;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467135	74467135	17:g.74467135G>A	ClinGen:CA10651053	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*551G>C	79651	RHBDF2	Benign	rs2289801	RCV000404186;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467164	74467164	17:g.74467164C>G	ClinGen:CA10650246	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*551G>T	79651	RHBDF2	Benign	rs2289801	RCV000354493;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467164	74467164	17:g.74467164C>A	ClinGen:CA10651054	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*551G>A	79651	RHBDF2	Benign	rs2289801	RCV000314555;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467164	74467164	17:g.74467164C>T	ClinGen:CA10651055	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*537G>A	79651	RHBDF2	Uncertain significance	rs1318338133	RCV001124878;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467178	74467178	17:g.74467178C>T	-
NM_001005498.4(RHBDF2):c.*536G>A	79651	RHBDF2	Uncertain significance	rs765820971	RCV000369110;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467179	74467179	17:g.74467179C>T	ClinGen:CA10650250	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*511G>A	79651	RHBDF2	Benign	rs11553544	RCV000274596;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467204	74467204	17:g.74467204C>T	ClinGen:CA10650251	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*475T>G	79651	RHBDF2	Uncertain significance	rs2073544332	RCV001124879;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467240	74467240	17:g.74467240A>C	-
NM_001005498.4(RHBDF2):c.*449C>T	79651	RHBDF2	Uncertain significance	rs886053464	RCV000329803;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467266	74467266	17:g.74467266G>A	ClinGen:CA10646895	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*405T>C	79651	RHBDF2	Uncertain significance	rs976788604	RCV001125855;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467310	74467310	17:g.74467310A>G	-
NM_001005498.4(RHBDF2):c.*366C>G	79651	RHBDF2	Uncertain significance	rs886053465	RCV000365748;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467349	74467349	17:g.74467349G>C	ClinGen:CA10640688	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*342T>C	79651	RHBDF2	Uncertain significance	rs2073549599	RCV001125856;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467373	74467373	17:g.74467373A>G	-
NM_001005498.4(RHBDF2):c.*331dup	79651	RHBDF2	Benign	rs58073681	RCV000271241;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467383	74467384	17:g.74467383_74467384insC	ClinGen:CA10651059	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*310G>A	79651	RHBDF2	Uncertain significance	rs886053466	RCV000326305;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467405	74467405	17:g.74467405C>T	ClinGen:CA10651064	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*287C>T	79651	RHBDF2	Uncertain significance	rs886053467	RCV000380377;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467428	74467428	17:g.74467428G>A	ClinGen:CA10651067	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*205C>T	79651	RHBDF2	Uncertain significance	rs1028206900	RCV001125857;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467510	74467510	17:g.74467510G>A	-
NM_001005498.4(RHBDF2):c.*198G>A	79651	RHBDF2	Benign	rs59252239	RCV000267114;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467517	74467517	17:g.74467517C>T	ClinGen:CA10646897	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*182G>A	79651	RHBDF2	Uncertain significance	rs886053468	RCV000322173;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467533	74467533	17:g.74467533C>T	ClinGen:CA10640689	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*181C>T	79651	RHBDF2	Benign	rs374842629	RCV000376777;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467534	74467534	17:g.74467534G>A	ClinGen:CA10651068	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*160G>A	79651	RHBDF2	Uncertain significance	rs886053469	RCV000282261;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467555	74467555	17:g.74467555C>T	ClinGen:CA10646901	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*116G>A	79651	RHBDF2	Benign	rs553431491	RCV000337300;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467599	74467599	NC_000017.10:g.74467599C>T	ClinGen:CA10640690	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.*53G>T	79651	RHBDF2	Uncertain significance	rs1191353898	RCV001127966;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467662	74467662	17:g.74467662C>A	-
NM_001005498.4(RHBDF2):c.*51G>C	79651	RHBDF2	Benign	rs76764510	RCV000373163;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467664	74467664	NC_000017.10:g.74467664C>G	ClinGen:CA8786651	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.2451C>T (p.Cys817=)	79651	RHBDF2	Uncertain significance	rs886053470	RCV000278688;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467748	74467748	NC_000017.10:g.74467748G>A	ClinGen:CA10651071	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs770206566	RCV000352768;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74467834	74467834	17:g.74467834C>T	ClinGen:CA8786678	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=)	79651	RHBDF2	Benign	rs115094923	RCV000401927\|RCV002056632;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74467934	74467934	NC_000017.10:g.74467934G>A	ClinGen:CA8786700	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys)	79651	RHBDF2	Uncertain significance	rs150984603	RCV001292881;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468033	74468033	74468033	-
NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe)	79651	RHBDF2	Uncertain significance	rs774772768	RCV000313194;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468038	74468038	NC_000017.10:g.74468038G>A	ClinGen:CA8786716	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=)	79651	RHBDF2	Uncertain significance	rs202160090	RCV001122210;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468111	74468111	17:g.74468111G>A	-
NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=)	79651	RHBDF2	Uncertain significance	rs374520556	RCV000349356;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468126	74468126	NC_000017.10:g.74468126C>T	ClinGen:CA8786727	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.2064+7A>G	79651	RHBDF2	Benign	rs201734337	RCV001122211\|RCV001579429;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74468761	74468761	17:g.74468761T>C	-
NM_001005498.4(RHBDF2):c.2032G>A (p.Ala678Thr)	79651	RHBDF2	Uncertain significance	rs2073625409	RCV001292966;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468800	74468800	74468800	-
NM_001005498.4(RHBDF2):c.1993G>A (p.Ala665Thr)	79651	RHBDF2	Uncertain significance	rs745487928	RCV001292940;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468839	74468839	74468839	-
NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr)	79651	RHBDF2	Uncertain significance	rs886053471	RCV000406108;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468872	74468872	NC_000017.10:g.74468872C>A	ClinGen:CA10650254	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met)	79651	RHBDF2	Benign	rs575187651	RCV001122212;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74468920	74468920	17:g.74468920C>T	-
NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=)	79651	RHBDF2	Benign	rs529460959	RCV001122213;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74469089	74469089	17:g.74469089A>G	-
NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=)	79651	RHBDF2	Benign	rs77626078	RCV000309665\|RCV000860926;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74469160	74469160	NC_000017.10:g.74469160G>A	ClinGen:CA8786826	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=)	79651	RHBDF2	Benign	rs138683747	RCV000364325\|RCV000861180\|RCV001579370;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202\|MedGen:CN169374	17	74469185	74469185	NC_000017.10:g.74469185C>T	ClinGen:CA8786829	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1809+11G>T	79651	RHBDF2	Uncertain significance	rs374902969	RCV000269735;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74469323	74469323	NC_000017.10:g.74469323C>A	ClinGen:CA8786847	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1809+7C>T	79651	RHBDF2	Benign	rs200007588	RCV000305157\|RCV000861042;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74469327	74469327	NC_000017.10:g.74469327G>A	ClinGen:CA8786848	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val)	79651	RHBDF2	Benign	rs73998915	RCV000359949\|RCV002056633;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74469779	74469779	NC_000017.10:g.74469779T>C	ClinGen:CA8786893	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1639-11C>G	79651	RHBDF2	Benign	rs141461044	RCV000265240;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74469835	74469835	NC_000017.10:g.74469835G>C	ClinGen:CA8786902	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1638+12T>C	79651	RHBDF2	Benign	rs114994065	RCV000320336\|RCV002523025;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74469909	74469909	NC_000017.10:g.74469909A>G	ClinGen:CA8786920	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1638+7G>A	79651	RHBDF2	Benign	rs201989863	RCV000375061;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74469914	74469914	NC_000017.10:g.74469914C>T	ClinGen:CA8786922	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1637C>T (p.Pro546Leu)	79651	RHBDF2	Uncertain significance	-1	RCV001761978;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74469922	74469922	74469922	-
NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=)	79651	RHBDF2	Benign	rs145102618	RCV000261752\|RCV000861415;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74469960	74469960	NC_000017.10:g.74469960G>A	ClinGen:CA8786935	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1575-8G>A	79651	RHBDF2	Uncertain significance	rs886053472	RCV000317033;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74469992	74469992	NC_000017.10:g.74469992C>T	ClinGen:CA10651077	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1574+7C>T	79651	RHBDF2	Likely benign	rs568757638	RCV001125955;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74470108	74470108	17:g.74470108G>A	-
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs140196536	RCV001125956\|RCV002556730;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123	17	74470158	74470158	17:g.74470158C>T	-
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs11553545	RCV000371679\|RCV000860951;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74470194	74470194	NC_000017.10:g.74470194C>A	ClinGen:CA8786968,UniProtKB:Q6PJF5#VAR_044127	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs150723002	RCV000296523\|RCV002523026;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123	17	74470203	74470203	NC_000017.10:g.74470203T>C	ClinGen:CA8786970	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs143503813	RCV000351369\|RCV000947858\|RCV001579588;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202\|MedGen:CN169374	17	74470523	74470523	NC_000017.10:g.74470523G>A	ClinGen:CA8787008	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=)	79651	RHBDF2	Benign	rs34005184	RCV000387200\|RCV000860927;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74470539	74470539	NC_000017.10:g.74470539G>T	ClinGen:CA8787012	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs147599098	RCV001125957\|RCV002556731;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123	17	74470544	74470544	17:g.74470544G>C	-
NM_001005498.4(RHBDF2):c.1302+12G>A	79651	RHBDF2	Uncertain significance	rs375078739	RCV000292913;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74470800	74470800	NC_000017.10:g.74470800C>T	ClinGen:CA10640697	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1302+8C>T	79651	RHBDF2	Uncertain significance	rs886053473	RCV000347735;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74470804	74470804	17:g.74470804G>A	ClinGen:CA10651083	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1301C>T (p.Ser434Leu)	79651	RHBDF2	Uncertain significance	-1	RCV001761979;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74470813	74470813	74470813	-
NM_001005498.4(RHBDF2):c.1235G>A (p.Arg412Gln)	79651	RHBDF2	Likely benign	rs377416669	RCV001128066;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74470879	74470879	17:g.74470879C>T	-
NM_001005498.4(RHBDF2):c.1227+11T>C	79651	RHBDF2	Uncertain significance	rs763218059	RCV000391103;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74471101	74471101	17:g.74471101A>G	ClinGen:CA8787092	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1106A>T (p.Asp369Val)	79651	RHBDF2	Uncertain significance	-1	RCV001788970;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74472921	74472921	74472921	-
NM_001005498.4(RHBDF2):c.1039A>G (p.Asn347Asp)	79651	RHBDF2	Uncertain significance	rs2073789363	RCV001128067;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74472988	74472988	17:g.74472988T>C	-
NM_001005498.4(RHBDF2):c.1029C>T (p.Gly343=)	79651	RHBDF2	Benign	rs61742551	RCV000308118\|RCV002056634;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74472998	74472998	17:g.74472998G>A	ClinGen:CA8787142	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.1004G>A (p.Arg335Gln)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs146134173	RCV000344269\|RCV001850740;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74473023	74473023	17:g.74473023C>T	ClinGen:CA8787148	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln)	79651	RHBDF2	Uncertain significance	rs149436907	RCV001292785;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473071	74473071	74473071	-
NM_001005498.4(RHBDF2):c.949G>A (p.Gly317Arg)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs144817869	RCV000403768\|RCV001859920;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74473078	74473078	17:g.74473078C>T	ClinGen:CA8787167	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.947_948del (p.Pro316fs)	79651	RHBDF2	Uncertain significance	-1	RCV001761981;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473079	74473080	74473078	-
NM_001005498.4(RHBDF2):c.946C>T (p.Pro316Ser)	79651	RHBDF2	Uncertain significance	rs777178007	RCV000303189;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473081	74473081	17:g.74473081G>A	ClinGen:CA10650265	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.921-15C>T	79651	RHBDF2	Benign	rs375068386	RCV000358020;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473121	74473121	17:g.74473121G>A	ClinGen:CA8787175	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg)	79651	RHBDF2	Uncertain significance	rs1315609118	RCV001122303;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473283	74473283	17:g.74473283G>C	-
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs140433374	RCV001122304\|RCV002556634;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74473329	74473329	17:g.74473329C>T	-
NM_001005498.4(RHBDF2):c.823del (p.Asp275fs)	79651	RHBDF2	Uncertain significance	rs1567876390	RCV000778519;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473359	74473359	NC_000017.10:g.74473359del	-
NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=)	79651	RHBDF2	Uncertain significance	rs2073804305	RCV001122305;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473360	74473360	17:g.74473360A>G	-
NM_001005498.4(RHBDF2):c.788C>T (p.Ser263Phe)	79651	RHBDF2	Benign	rs116968311	RCV000263043\|RCV000861191;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74473752	74473752	17:g.74473752G>A	ClinGen:CA8787234	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.722G>A (p.Arg241His)	79651	RHBDF2	Uncertain significance	rs149960669	RCV001249419\|RCV002570399;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74473818	74473818	17:g.74473818C>T	-
NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs145136848	RCV000299765\|RCV002524443\|RCV001850741;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	17	74473836	74473836	17:g.74473836C>T	ClinGen:CA8787255	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=)	79651	RHBDF2	Benign	rs33995520	RCV000354584\|RCV000861544;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74473859	74473859	17:g.74473859C>T	ClinGen:CA8787262	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.680C>T (p.Ser227Leu)	79651	RHBDF2	Likely benign	rs143672318	RCV000259658;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74473860	74473860	17:g.74473860G>A	ClinGen:CA8787263	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=)	79651	RHBDF2	Uncertain significance	rs922369882	RCV001125092;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74474894	74474894	17:g.74474894G>A	-
NM_001005498.4(RHBDF2):c.658G>A (p.Ala220Thr)	79651	RHBDF2	Benign	rs34814954	RCV000333593\|RCV000860825;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74474902	74474902	17:g.74474902C>T	ClinGen:CA8787291,UniProtKB:Q6PJF5#VAR_044126	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.617G>C (p.Arg206Pro)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs145040227	RCV001125093\|RCV002558236;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123	17	74474943	74474943	17:g.74474943C>G	-
NM_001005498.4(RHBDF2):c.617G>A (p.Arg206His)	79651	RHBDF2	Uncertain significance	-1	RCV001761976;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74474943	74474943	74474943	-
NM_001005498.4(RHBDF2):c.616C>T (p.Arg206Cys)	79651	RHBDF2	Uncertain significance	-1	RCV001761977\|RCV002540741;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123	17	74474944	74474944	74474944	-
NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys)	79651	RHBDF2	Benign	rs138968491	RCV000369189;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74474947	74474947	17:g.74474947G>A	ClinGen:CA8787301	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala)	79651	RHBDF2	Uncertain significance	rs2073856905	RCV001125094;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475000	74475000	17:g.74475000A>G	-
NM_001005498.4(RHBDF2):c.556G>A (p.Gly186Arg)	79651	RHBDF2	Uncertain significance	rs376555925	RCV001294229;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475004	74475004	74475004	-
NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=)	79651	RHBDF2	Benign	rs3744044	RCV000274521\|RCV002524444;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74475014	74475014	17:g.74475014C>T	ClinGen:CA8787318	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu)	79651	RHBDF2	Benign	rs3744045	RCV000329731\|RCV001530107\|RCV001618570;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN169374\|MedGen:CN517202	17	74475024	74475024	17:g.74475024G>A	ClinGen:CA8787319,UniProtKB:Q6PJF5#VAR_044125	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=)	79651	RHBDF2	Benign	rs151290253	RCV000384232\|RCV000905740;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74475035	74475035	17:g.74475035C>T	ClinGen:CA8787322	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=)	79651	RHBDF2	Benign/Likely benign	rs140265206	RCV000289929\|RCV000882775;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74475050	74475050	17:g.74475050C>T	ClinGen:CA8787326	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu)	79651	RHBDF2	Likely pathogenic	rs387907130	RCV000024178;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475081	74475081	17:g.74475081G>A	OMIM:614404.0003,OMIM:614404.0002,ClinGen:CA129734,UniProtKB:Q6PJF5#VAR_067828	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.470T>C (p.Ile157Thr)	79651	RHBDF2	Pathogenic	rs387907129	RCV001852566\|RCV000024177;	N	MedGen:CN517202\|MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475090	74475090	17:g.74475090A>G	ClinGen:CA129732,UniProtKB:Q6PJF5#VAR_067827,OMIM:614404.0001	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.391C>T (p.Arg131Cys)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs751482282	RCV000326232\|RCV002523027;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MeSH:D030342,MedGen:C0950123	17	74475241	74475241	17:g.74475241G>A	ClinGen:CA8787356	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys)	79651	RHBDF2	Conflicting interpretations of pathogenicity	rs187556554	RCV000380909\|RCV002056635;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74475271	74475271	17:g.74475271G>A	ClinGen:CA8787364	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr)	79651	RHBDF2	Likely benign	rs367658130	RCV000286576;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475273	74475273	17:g.74475273A>G	ClinGen:CA8787365	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.327G>T (p.Gln109His)	79651	RHBDF2	Likely benign	rs763124357	RCV000342097;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475305	74475305	17:g.74475305C>A	ClinGen:CA8787372	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp)	79651	RHBDF2	Benign	rs372953205	RCV001126067;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475313	74475313	17:g.74475313G>A	-
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu)	79651	RHBDF2	Benign	rs142642633	RCV000392881;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475318	74475318	NC_000017.10:g.74475318C>T	ClinGen:CA8787377	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr)	79651	RHBDF2	Benign	rs114238341	RCV000283463\|RCV000861475;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74475355	74475355	NC_000017.10:g.74475355C>T	ClinGen:CA8787387	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.272+10C>T	79651	RHBDF2	Likely benign	rs374497069	RCV000898911\|RCV002502641;	N	MedGen:CN517202\|MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475805	74475805	17:g.74475805G>A	-
NM_001005498.4(RHBDF2):c.239G>A (p.Arg80His)	79651	RHBDF2	Benign	rs143449348	RCV000338539;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475848	74475848	NC_000017.10:g.74475848C>T	ClinGen:CA8787438	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.238C>T (p.Arg80Cys)	79651	RHBDF2	Benign	rs369829771	RCV001128157;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475849	74475849	17:g.74475849G>A	-
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=)	79651	RHBDF2	Benign/Likely benign	rs146553433	RCV000405552\|RCV000861481;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202	17	74475874	74475874	NC_000017.10:g.74475874C>T	ClinGen:CA8787444	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln)	79651	RHBDF2	Benign	rs200821841	RCV001128158;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475884	74475884	17:g.74475884C>T	-
NM_001005498.4(RHBDF2):c.171G>A (p.Leu57=)	79651	RHBDF2	Benign	rs144977361	RCV001128159;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475916	74475916	17:g.74475916C>T	-
NM_001005498.4(RHBDF2):c.151-27G>T	79651	RHBDF2	Uncertain significance	rs565386980	RCV001128160;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74475963	74475963	17:g.74475963C>A	-
NM_001005498.4(RHBDF2):c.151-39G>T	79651	RHBDF2	Benign	rs3809694	RCV000298609\|RCV001594955\|RCV001529450;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN517202\|MedGen:CN169374	17	74475975	74475975	NC_000017.10:g.74475975C>A	ClinGen:CA8787468	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.151-109C>G	79651	RHBDF2	Benign	-1	RCV001645927\|RCV001796634;	N	MedGen:CN517202\|MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74476045	74476045	74476045	-
NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu)	79651	RHBDF2	Uncertain significance	rs1010002254	RCV001122428;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74477509	74477509	17:g.74477509G>A	-
NM_001005498.4(RHBDF2):c.31G>A (p.Val11Met)	79651	RHBDF2	Likely benign	rs142019309	RCV000353596;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74477576	74477576	NC_000017.10:g.74477576C>T	ClinGen:CA8787519	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg)	79651	RHBDF2	Benign	rs80133178	RCV000404814\|RCV001579474\|RCV002056636;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN169374\|MedGen:CN517202	17	74477579	74477579	NC_000017.10:g.74477579T>G	ClinGen:CA8787520	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.25G>A (p.Gly9Arg)	79651	RHBDF2	Benign	rs138667763	RCV001122429;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74477582	74477582	17:g.74477582C>T	-
NM_001005498.4(RHBDF2):c.-14G>A	79651	RHBDF2	Benign	rs12943385	RCV000314270\|RCV001529065\|RCV001618571;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198\|MedGen:CN169374\|MedGen:CN517202	17	74477620	74477620	NC_000017.10:g.74477620C>T	ClinGen:CA8787531	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.-43G>A	79651	RHBDF2	Uncertain significance	rs990814111	RCV001122430;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74483815	74483815	17:g.74483815C>T	-
NM_001005498.4(RHBDF2):c.-115G>A	79651	RHBDF2	Benign	rs73998928	RCV000369000;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74483887	74483887	NC_000017.10:g.74483887C>T	ClinGen:CA10650267	C1835664 148500 Howel-Evans syndrome;
NM_001005498.4(RHBDF2):c.-175A>G	79651	RHBDF2	Uncertain significance	rs542504429	RCV001125204;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74483947	74483947	17:g.74483947T>C	-
NM_001005498.4(RHBDF2):c.-220+12G>A	79651	RHBDF2	Uncertain significance	rs1014348759	RCV001125205;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74497423	74497423	17:g.74497423C>T	-
NM_001005498.4(RHBDF2):c.-228C>T	79651	RHBDF2	Uncertain significance	rs1488032394	RCV001125206;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74497443	74497443	17:g.74497443G>A	-
NM_001005498.4(RHBDF2):c.-272C>A	79651	RHBDF2	Benign	rs551777579	RCV000274256;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74497487	74497487	NC_000017.10:g.74497487G>T	ClinGen:CA10646924	C1835664 148500 Howel-Evans syndrome;
NM_024599.5(RHBDF2):c.-297C>T	79651	RHBDF2	Likely benign	rs571688447	RCV000396237;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74497512	74497512	17:g.74497512G>A	ClinGen:CA10654568	C1835664 148500 Howel-Evans syndrome;
NM_024599.5(RHBDF2):c.-305C>G	79651	RHBDF2	Benign	rs554316005	RCV000290452;	N	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500, Orphanet:2198	17	74497520	74497520	17:g.74497520G>C	ClinGen:CA10654569	C1835664 148500 Howel-Evans syndrome;

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