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: Cataract (D002386)
Parent Node: Polyneuropathies (D011115)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bardet-Biedl Syndrome (D020788) 13
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 16 (OMIM:614500)
..CONE-ROD DYSTROPHY 18 (OMIM:615374)
..CONE-ROD DYSTROPHY 19 (OMIM:615860)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..CONE-ROD DYSTROPHY 20 (OMIM:615973)
..CONE-ROD DYSTROPHY 21 (OMIM:616502)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..CONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Mainzer-Saldino Disease (C535463)
..Meckel syndrome type 1 (C536133)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..RETINITIS PIGMENTOSA 22 (OMIM:602594)
..RETINITIS PIGMENTOSA 23 (OMIM:300424)
..RETINITIS PIGMENTOSA 24 (OMIM:300155)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..RETINITIS PIGMENTOSA 28 (OMIM:606068)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..RETINITIS PIGMENTOSA 38 (OMIM:613862)
..RETINITIS PIGMENTOSA 39 (OMIM:613809)
..Retinitis Pigmentosa 4 (C566706)
..RETINITIS PIGMENTOSA 40 (OMIM:613801)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..RETINITIS PIGMENTOSA 43 (OMIM:613810)
..RETINITIS PIGMENTOSA 44 (OMIM:613769)
..RETINITIS PIGMENTOSA 45 (OMIM:613767)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 47 (OMIM:613758)
..RETINITIS PIGMENTOSA 48 (OMIM:613827)
..RETINITIS PIGMENTOSA 49 (OMIM:613756)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..RETINITIS PIGMENTOSA 59 (OMIM:613861)
..Retinitis Pigmentosa 6 (C564065)
..RETINITIS PIGMENTOSA 60 (OMIM:613983)
..RETINITIS PIGMENTOSA 61 (OMIM:614180)
..RETINITIS PIGMENTOSA 62 (OMIM:614181)
..RETINITIS PIGMENTOSA 66 (OMIM:615233)
..RETINITIS PIGMENTOSA 67 (OMIM:615565)
..RETINITIS PIGMENTOSA 68 (OMIM:615725)
..RETINITIS PIGMENTOSA 69 (OMIM:615780)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..RETINITIS PIGMENTOSA 70 (OMIM:615922)
..RETINITIS PIGMENTOSA 71 (OMIM:616394)
..RETINITIS PIGMENTOSA 72 (OMIM:616469)
..RETINITIS PIGMENTOSA 73 (OMIM:616544)
..RETINITIS PIGMENTOSA 74 (OMIM:616562)
..RETINITIS PIGMENTOSA 75 (OMIM:617023)
..RETINITIS PIGMENTOSA 76 (OMIM:617123)
..RETINITIS PIGMENTOSA 77 (OMIM:617304)
..RETINITIS PIGMENTOSA 78 (OMIM:617433)
..RETINITIS PIGMENTOSA 79 (OMIM:617460)
..RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..Retinitis Pigmentosa 9 (C566716)
..RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19 L: 00160;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10024

Name:

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Definition:

Alternative IDs:

OMIM:612674

ParentIDs:

MESH:D001259|MESH:D002386|MESH:D011115|MESH:D012174

TreeNumbers:

C10.597.350.090/C567203 |C10.668.829.800/C567203 |C11.270.684/C567203 |C11.510.245/C567203 |C11.768.585.658.500/C567203 |C16.320.290.684/C567203 |C23.888.592.350.090/C567203

Synonyms:

PHARC

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C567203
MeSH: C567203
OMIM: 612674;
MSeqDR :
Genes: ABHD12;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003674	Onset
3	HP:0001771	Achilles tendon contracture
4	HP:0001251	Ataxia
5	HP:0003487	Babinski sign
6	HP:0001272	Cerebellar atrophy
7	HP:0000762	Decreased nerve conduction velocity
8	HP:0003693	Distal amyotrophy
9	HP:0002936	Distal sensory impairment
10	HP:0001260	Dysarthria NAMDC: Dysarthria
11	HP:0001310	Dysmetria
12	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13	HP:0001265	Hyporeflexia
14	HP:0002080	Intention tremor
15	HP:0000639	Nystagmus
16	HP:0000648	Optic atrophy
17	HP:0001761	Pes cavus
18	HP:0003812	Phenotypic variability
19	HP:0001271	Polyneuropathy
20	HP:0000510	Rod-cone dystrophy
21	HP:0007141	Sensorimotor neuropathy
22	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
23	HP:0003677	Slow progression
24	HP:0001257	Spasticity NAMDC: Spasticity
25	HP:0000523	Subcapsular cataract

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_015600.5(ABHD12):c.1157+2023C>T	26090	ABHD12	Uncertain significance	rs527626109	RCV000393403;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25280832	25280832	20:g.25280832G>A	ClinGen:CA10654634	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*541G>A	26090	ABHD12	Benign	rs41304802	RCV001140043;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25280940	25280940	20:g.25280940C>T	-
NM_001042472.3(ABHD12):c.*454G>A	26090	ABHD12	Likely benign	rs41309917	RCV000332184;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281027	25281027	NC_000020.10:g.25281027C>T	ClinGen:CA10652419	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*414del	26090	ABHD12	Uncertain significance	rs886056561	RCV000368074;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281067	25281067	NC_000020.10:g.25281067del	ClinGen:CA10652421	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*377C>T	26090	ABHD12	Uncertain significance	rs886056562	RCV000273574;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281104	25281104	NC_000020.10:g.25281104G>A	ClinGen:CA10649453	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*353G>A	26090	ABHD12	Uncertain significance	rs886056563	RCV000328464;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281128	25281128	NC_000020.10:g.25281128C>T	ClinGen:CA10652423	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*331G>C	26090	ABHD12	Uncertain significance	rs927058842	RCV001140797;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281150	25281150	20:g.25281150C>G	-
NM_001042472.3(ABHD12):c.*331G>A	26090	ABHD12	Uncertain significance	rs927058842	RCV001140798;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281150	25281150	20:g.25281150C>T	-
NM_001042472.3(ABHD12):c.*321G>T	26090	ABHD12	Benign	rs534140287	RCV000288684;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281160	25281160	NC_000020.10:g.25281160C>A	ClinGen:CA10649455	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.320_321del	26090	ABHD12	Likely benign	rs58058232	RCV000382988;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281160	25281161	NC_000020.10:g.25281160_25281161del	ClinGen:CA10653022	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*297C>G	26090	ABHD12	Benign	rs11100	RCV000325016\|RCV001534919;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25281184	25281184	NC_000020.10:g.25281184G>C	ClinGen:CA10649456	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*177C>T	26090	ABHD12	Uncertain significance	rs889909532	RCV001142649;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281304	25281304	20:g.25281304G>A	-
NM_001042472.3(ABHD12):c.*149G>A	26090	ABHD12	Uncertain significance	rs1013194735	RCV001142650;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281332	25281332	20:g.25281332C>T	-
NM_001042472.3(ABHD12):c.*148C>T	26090	ABHD12	Benign	rs1046073	RCV000379946\|RCV001672590;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25281333	25281333	NC_000020.10:g.25281333G>A	ClinGen:CA10643653	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*83G>A	26090	ABHD12	Benign	rs2424708	RCV000285470\|RCV001683348;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25281398	25281398	NC_000020.10:g.25281398C>T	ClinGen:CA10653025	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*45G>C	26090	ABHD12	Uncertain significance	rs200450758	RCV000340407;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281436	25281436	20:g.25281436C>G	ClinGen:CA9795770	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.*22A>G	26090	ABHD12	Conflicting interpretations of pathogenicity	rs377339443	RCV001142651\|RCV001550297;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25281459	25281459	20:g.25281459T>C	-
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter)	26090	ABHD12	Uncertain significance	rs745990956	RCV000171343\|RCV001331521;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25281489	25281489	20:g.25281489G>A	ClinGen:CA236142	CN517202 not provided;
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=)	26090	ABHD12	Benign	rs184232860	RCV000394234\|RCV001520577;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25281502	25281502	20:g.25281502C>T	ClinGen:CA9795791	CN169374 not specified;
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)	26090	ABHD12	Likely pathogenic	rs1555810299	RCV000656406;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25282883	25282888	NC_000020.10:g.25282887_25282892del	-	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	26090	ABHD12	Pathogenic	rs587777602	RCV000132767;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25282896	25282896	20:g.25282896G>C	ClinGen:CA170103,OMIM:613599.0005	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)	26090	ABHD12	Benign	rs10966	RCV000116214\|RCV000282089\|RCV001512892;	N	MedGen:CN169374\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25282944	25282944	20:g.25282944A>G	ClinGen:CA151559	CN169374 not specified;
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)	26090	ABHD12	Pathogenic	rs267606624	RCV000000044\|RCV001208516;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25282958	25282958	20:g.25282958G>A	ClinGen:CA113811,OMIM:613599.0004	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)	26090	ABHD12	Benign	rs746748	RCV000116213\|RCV000337167\|RCV000991475;	N	MedGen:CN169374\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25282967	25282967	20:g.25282967C>T	ClinGen:CA151556,UniProtKB:Q8N2K0#VAR_050630	CN169374 not specified;
NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs371418239	RCV001137913\|RCV002070617;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25282968	25282968	20:g.25282968G>A	-
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs188888939	RCV000272244\|RCV000394241;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25282971	25282971	20:g.25282971G>A	ClinGen:CA9795838	CN169374 not specified;
NM_001042472.3(ABHD12):c.1029+247_1029+248insC	26090	ABHD12	Benign	-1	RCV001549026\|RCV001655877;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25283938	25283939	25283938	-
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)	26090	ABHD12	Pathogenic	-1	RCV001782038;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25284200	25284200	25284200	-
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)	26090	ABHD12	Likely pathogenic	rs886039872	RCV000256396;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25284244	25284244	NC_000020.10:g.25284244G>A	ClinGen:CA10588938	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg)	26090	ABHD12	Uncertain significance	rs375661124	RCV001295734\|RCV003135921;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25284248	25284248	25284248	-
NM_001042472.3(ABHD12):c.960C>T (p.His320=)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs146195280	RCV001137914\|RCV001402813;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25284255	25284255	20:g.25284255G>A	-
NM_001042472.3(ABHD12):c.951-79A>G	26090	ABHD12	Benign	-1	RCV001549027\|RCV001647415;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25284343	25284343	25284343	-
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln)	26090	ABHD12	Uncertain significance	rs771187489	RCV001137915\|RCV001760097;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25287544	25287544	20:g.25287544C>T	-
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)	26090	ABHD12	Pathogenic/Likely pathogenic	rs776800006	RCV000524077\|RCV000656405;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25287545	25287545	20:g.25287545G>A	ClinGen:CA9795948	CN517202 not provided;
NM_001042472.3(ABHD12):c.867+2C>T	26090	ABHD12	Uncertain significance	rs1437849678	RCV001338578\|RCV001780256;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25288600	25288600	25288600	-
NM_001042472.3(ABHD12):c.858A>C (p.Pro286=)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs372807311	RCV000297381\|RCV001411319;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25288611	25288611	20:g.25288611T>G	ClinGen:CA9795964	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)	26090	ABHD12	Pathogenic	rs397704714	RCV000000043;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25288616	25288617	20:g.25288616_25288617insGCTCTTA	ClinGen:CA113810,OMIM:613599.0003	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)	26090	ABHD12	Benign	rs6107027	RCV000116215\|RCV000609598\|RCV001517392;	N	MedGen:CN169374\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25288632	25288632	20:g.25288632G>A	ClinGen:CA151562	CN169374 not specified;
NM_001042472.3(ABHD12):c.836G>A (p.Arg279His)	26090	ABHD12	Uncertain significance	rs180761451	RCV000418476\|RCV001140159;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25288633	25288633	20:g.25288633C>T	ClinGen:CA9795966	CN169374 not specified;
NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs186440319	RCV000399246\|RCV001458236;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25288667	25288667	20:g.25288667C>A	ClinGen:CA9795975	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs911558545	RCV001140160\|RCV002559353;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25288677	25288677	20:g.25288677C>A	-
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs41306784	RCV000311548\|RCV000762340;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25289111	25289111	20:g.25289111G>A	ClinGen:CA9796008	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs572997548	RCV001140161\|RCV001456141;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25290113	25290113	20:g.25290113C>T	-
NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln)	26090	ABHD12	Uncertain significance	rs1182010524	RCV001334711\|RCV002546695;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25290178	25290178	25290178	-
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val)	26090	ABHD12	Uncertain significance	-1	RCV001365952\|RCV003136035;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25290211	25290211	25290211	-
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs587777604	RCV000132769\|RCV000678518;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MONDO:MONDO:0000455,MedGen:C0730290, Orphanet:1871	20	25297700	25297700	20:g.25297700C>G	ClinGen:CA170107,OMIM:613599.0007	C0730290 Cone/cone-rod dystrophy;
NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg)	26090	ABHD12	Uncertain significance	-1	RCV002246162;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25297713	25297713	25297713	-
NM_001042472.3(ABHD12):c.543-13T>C	26090	ABHD12	Conflicting interpretations of pathogenicity	rs575339393	RCV000366322\|RCV002057728;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25297727	25297727	20:g.25297727A>G	ClinGen:CA9796107	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.542+6G>A	26090	ABHD12	Uncertain significance	rs752298031	RCV001140162;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25300829	25300829	20:g.25300829C>T	-
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)	26090	ABHD12	Pathogenic	rs587777603	RCV000132768;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25300900	25300900	20:g.25300900C>T	ClinGen:CA170105,OMIM:613599.0006	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.453C>T (p.Asn151=)	26090	ABHD12	Conflicting interpretations of pathogenicity	rs375299452	RCV000271406\|RCV002057729;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25300924	25300924	20:g.25300924G>A	ClinGen:CA9796139	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.423-68C>T	26090	ABHD12	Benign	rs2274890	RCV000836005\|RCV001549196;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25301022	25301022	20:g.25301022G>A	-
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)	26090	ABHD12	Pathogenic	rs1555813914	RCV000000041\|RCV000522470;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25304045	25304046	20:g.25304045_25304046insAA	ClinGen:CA113808,OMIM:613599.0001	CN517202 not provided;
NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe)	26090	ABHD12	Uncertain significance	rs376230028	RCV000326437\|RCV001070173;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25304049	25304049	20:g.25304049T>A	ClinGen:CA9796175	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.315C>T (p.Phe105=)	26090	ABHD12	Uncertain significance	rs151069701	RCV001052213\|RCV001140918;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25319864	25319864	20:g.25319864G>A	-
NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val)	26090	ABHD12	Uncertain significance	rs776224682	RCV001140919\|RCV001204105;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25319929	25319929	20:g.25319929T>C	-
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter)	26090	ABHD12	Pathogenic	rs1303044966	RCV000677260;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25319930	25319930	NC_000020.10:g.25319930G>C	-	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)	26090	ABHD12	Pathogenic	rs1555817157	RCV000585749\|RCV002524060;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25319956	25319968	20:g.25319956_25319968del	ClinGen:CA658684236	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala)	26090	ABHD12	Uncertain significance	rs140967031	RCV000362453\|RCV000997762;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25319976	25319976	20:g.25319976A>G	ClinGen:CA9796219	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met)	26090	ABHD12	Benign	rs11904930	RCV000615405\|RCV000625283\|RCV000887285;	N	MedGen:CN169374\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25319977	25319977	20:g.25319977C>T	ClinGen:CA9796220	CN169374 not specified;
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC	26090	ABHD12	Pathogenic	-1	RCV000000042;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25364147	25378237		dbVar:nssv3761628,OMIM:613599.0002	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
Single allele	26090	ABHD12	Pathogenic	-1	RCV000235052;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25364310	25378180		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	26090	ABHD12	Pathogenic	-1	RCV002247721;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25368401	25373804	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_001042472.3(ABHD12):c.191+31_191+36del	26090	ABHD12	Benign	-1	RCV001549197\|RCV001713128;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371113	25371118	25371112	-
NM_001042472.3(ABHD12):c.191+24G>C	26090	ABHD12	Benign	-1	RCV001549198\|RCV001713035;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371125	25371125	25371125	-
NM_001042472.3(ABHD12):c.191+15G>A	26090	ABHD12	Conflicting interpretations of pathogenicity	rs369626505	RCV001140920\|RCV001472250;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371134	25371134	20:g.25371134C>T	-
NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val)	26090	ABHD12	Uncertain significance	rs760720412	RCV001140921\|RCV001882427;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371173	25371173	20:g.25371173G>A	-
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly)	26090	ABHD12	Uncertain significance	rs1007058021	RCV001142763;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25371203	25371203	20:g.25371203G>C	-
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser)	26090	ABHD12	Uncertain significance	-1	RCV002012284\|RCV002492094\|RCV002564341;	N	MedGen:CN517202\|MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MeSH:D030342,MedGen:C0950123	20	25371246	25371246	25371246	-
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val)	26090	ABHD12	Uncertain significance	rs776381886	RCV001142764\|RCV001551242;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371314	25371314	20:g.25371314G>A	-
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC	26090	ABHD12	Benign	rs3833297	RCV000322802\|RCV000835999;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371378	25371379	NC_000020.10:g.25371382_25371383insCCGCCGCCT	ClinGen:CA9796339	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.-44C>G	26090	ABHD12	Conflicting interpretations of pathogenicity	rs373200654	RCV000377467\|RCV001613103;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371383	25371383	20:g.25371383G>C	ClinGen:CA9796341	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.-82_-76del	26090	ABHD12	Uncertain significance	rs886056564	RCV000282988;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25371415	25371421	20:g.25371415_25371421del	ClinGen:CA10649458	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.-94C>T	26090	ABHD12	Benign	rs536190889	RCV000319286\|RCV001712125;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371433	25371433	20:g.25371433G>A	ClinGen:CA10653029	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.3(ABHD12):c.-118T>C	26090	ABHD12	Uncertain significance	rs886056565	RCV000373803;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25371457	25371457	20:g.25371457A>G	ClinGen:CA10653030	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.2(ABHD12):c.-220G>A	26090	ABHD12	Benign	rs3827014	RCV000279252\|RCV001613104;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848\|MedGen:CN517202	20	25371559	25371559	20:g.25371559C>T	ClinGen:CA10652424	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.2(ABHD12):c.-221G>A	26090	ABHD12	Uncertain significance	rs879795178	RCV000334337;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25371560	25371560	20:g.25371560C>T	ClinGen:CA10649461	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;
NM_001042472.2(ABHD12):c.-260G>A	26090	ABHD12	Uncertain significance	rs886056566	RCV000388933;	N	MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674, Orphanet:171848	20	25371599	25371599	20:g.25371599C>T	ClinGen:CA10643666	C2675204 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;

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