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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: Cataract (D002386)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Leukodystrophy, Hypomyelinating, 5 (C567166)
Child Nodes:
Sister Nodes:
..Adrenoleukodystrophy (D000326) 4
..Alexander Disease (D038261) 1
..Canavan Disease (D017825)
..Dysmyelination With Jaundice (C565610)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..Leukodystrophy, Globoid Cell (D007965) 1
..LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
..LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
..LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
..LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
..Leukodystrophy, Hypomyelinating, 2 (C563855)
..LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Leukodystrophy, Hypomyelinating, 6 (C567314)
..LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
..Leukodystrophy, Metachromatic (D007966) 5
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Megalencephaly with Dysmyelination (C565408)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6996

Name:

Leukodystrophy, Hypomyelinating, 5

Definition:

Alternative IDs:

OMIM:610532

ParentIDs:

MESH:D002386|MESH:D020279

TreeNumbers:

C10.228.140.163.100.362/C567166 |C10.228.140.695.625/C567166 |C10.314.400/C567166 |C10.574.500.490/C567166 |C11.510.245/C567166 |C16.320.400.367/C567166 |C16.320.565.189.362/C567166 |C18.452.132.100.362/C567166 |C18.452.648.189.362/C567166

Synonyms:

HLD5 |Hypomyelination And Congenital Cataract |HYPOMYELINATION AND CONGENITAL CATARACT: HCC

Slim Mappings:

Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C567166
MeSH: C567166
OMIM: 610532;
MSeqDR :
Genes: FAM126A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001317	Abnormality of the cerebellum
4	HP:0003487	Babinski sign
5	HP:0012762	Cerebral white matter atrophy
6	HP:0000519	Congenital cataract
7	HP:0003431	Decreased motor nerve conduction velocity
8	HP:0001260	Dysarthria NAMDC: Dysarthria
9	HP:0001263	Global developmental delay NAMDC: Mental retardation
10	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
11	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
12	HP:0001249	Intellectual disability
13	HP:0002080	Intention tremor
14	HP:0002415	Leukodystrophy
15	HP:0006957	Loss of ability to walk
16	HP:0007210	Lower limb amyotrophy
17	HP:0007340	Lower limb muscle weakness
18	HP:0001270	Motor delay
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0001271	Polyneuropathy
21	HP:0002650	Scoliosis
22	HP:0001250	Seizures NAMDC: Seizures
23	HP:0030147	Truncal titubation
24	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)	843	CASP10	Conflicting interpretations of pathogenicity	rs80358239	RCV000378446\|RCV000440171\|RCV001258256;	N	MONDO:MONDO:0011383,MedGen:C1858968,OMIM:603909, Orphanet:3261\|MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	2	202074086	202074086	NC_000002.11:g.202074086A>T	ClinGen:CA2053200,UniProtKB:Q92851#VAR_037429	C1328840 601859 Autoimmune lymphoproliferative syndrome;
NM_032581.4(FAM126A):c.832-2A>T	84668	FAM126A	Likely pathogenic	-1	RCV002226833;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000036	23000036	23000036	-
NC_000007.14:g.(?_22964395)_(22991131_?)del	84668	FAM126A	Uncertain significance	-1	RCV000707885;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004014	23030750		-	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(FAM126A):c.461A>T (p.Gln154Leu)	84668	FAM126A	Uncertain significance	rs146695960	RCV001330152;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016381	23016381	23016381	-
NM_032581.4(FAM126A):c.414+1G>C	84668	FAM126A	not provided	rs72549406	RCV000144432;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016959	23016959	7:g.23016959C>G	ClinGen:CA270761	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(FAM126A):c.100_101del (p.Lys34fs)	84668	FAM126A	Likely pathogenic	rs1562502139	RCV000785923;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023615	23023616	7:g.23023615_23023616del	-
NM_032581.4(HYCC1):c.*4329del	84668	HYCC1	Uncertain significance	rs886062194	RCV000275314;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22980879	22980879	NC_000007.13:g.22980879del	ClinGen:CA10628739	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.4278_4279insGT	84668	HYCC1	Benign	rs35708583	RCV000330372;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22980929	22980930	NC_000007.13:g.22980930_22980931insCA	ClinGen:CA10623650	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*4255A>G	84668	HYCC1	Uncertain significance	rs562064414	RCV000370945;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22980953	22980953	NC_000007.13:g.22980953T>C	ClinGen:CA10628740	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*4221G>C	84668	HYCC1	Likely benign	rs539079827	RCV000276647;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22980987	22980987	NC_000007.13:g.22980987C>G	ClinGen:CA10623652	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*4219T>A	84668	HYCC1	Uncertain significance	rs886062195	RCV000317775;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22980989	22980989	NC_000007.13:g.22980989A>T	ClinGen:CA10628886	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*4043A>G	84668	HYCC1	Uncertain significance	rs886062196	RCV000372312;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981165	22981165	NC_000007.13:g.22981165T>C	ClinGen:CA10628744	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3878C>T	84668	HYCC1	Uncertain significance	rs886062197	RCV000282565;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981330	22981330	NC_000007.13:g.22981330G>A	ClinGen:CA10625748	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3804A>C	84668	HYCC1	Benign	rs34683819	RCV000319011;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981404	22981404	NC_000007.13:g.22981404T>G	ClinGen:CA10625749	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3798A>G	84668	HYCC1	Uncertain significance	rs1783908681	RCV001164928;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981410	22981410	7:g.22981410T>C	-
NM_032581.4(HYCC1):c.*3753C>T	84668	HYCC1	Likely benign	rs186672766	RCV000378256;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981455	22981455	NC_000007.13:g.22981455G>A	ClinGen:CA10623653	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3739A>G	84668	HYCC1	Uncertain significance	rs918067483	RCV001164929;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981469	22981469	7:g.22981469T>C	-
NM_032581.4(HYCC1):c.*3680A>G	84668	HYCC1	Benign	rs3815348	RCV000283853;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981528	22981528	NC_000007.13:g.22981528T>C	ClinGen:CA10628888	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3575A>G	84668	HYCC1	Uncertain significance	rs1783914519	RCV001164930;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981633	22981633	7:g.22981633T>C	-
NM_032581.4(HYCC1):c.*3491A>T	84668	HYCC1	Uncertain significance	rs142056277	RCV000343539;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981717	22981717	NC_000007.13:g.22981717T>A	ClinGen:CA10628889	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.3486_3489del	84668	HYCC1	Uncertain significance	rs545140159	RCV000399406;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981719	22981722	NC_000007.13:g.22981720_22981723del	ClinGen:CA10628747	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3278G>A	84668	HYCC1	Uncertain significance	rs575381899	RCV001164931;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981930	22981930	7:g.22981930C>T	-
NM_032581.4(HYCC1):c.*3266C>T	84668	HYCC1	Benign	rs75393023	RCV000289717;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22981942	22981942	NC_000007.13:g.22981942G>A	ClinGen:CA10625755	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*3167T>G	84668	HYCC1	Uncertain significance	rs757408164	RCV001160010;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982041	22982041	7:g.22982041A>C	-
NM_032581.4(HYCC1):c.*3106G>A	84668	HYCC1	Likely benign	rs191973703	RCV001160011;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982102	22982102	7:g.22982102C>T	-
NM_032581.4(HYCC1):c.*3046G>A	84668	HYCC1	Uncertain significance	rs1025056531	RCV001160012;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982162	22982162	7:g.22982162C>T	-
NM_032581.4(HYCC1):c.*3001A>G	84668	HYCC1	Benign	rs2286495	RCV000346964;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982207	22982207	NC_000007.13:g.22982207T>C	ClinGen:CA10623656	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2976G>T	84668	HYCC1	Benign	rs17725943	RCV000401482;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982232	22982232	NC_000007.13:g.22982232C>A	ClinGen:CA10623658	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2905T>C	84668	HYCC1	Uncertain significance	rs546858657	RCV000311868;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982303	22982303	NC_000007.13:g.22982303A>G	ClinGen:CA10623660	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2904A>T	84668	HYCC1	Uncertain significance	rs565649812	RCV000368920;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982304	22982304	NC_000007.13:g.22982304T>A	ClinGen:CA10625756	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2878T>G	84668	HYCC1	Uncertain significance	rs75640317	RCV001160013;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982330	22982330	7:g.22982330A>C	-
NM_032581.4(HYCC1):c.*2822A>T	84668	HYCC1	Uncertain significance	rs886062198	RCV000391748;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982386	22982386	NC_000007.13:g.22982386T>A	ClinGen:CA10628748	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2661C>T	84668	HYCC1	Benign	rs13222017	RCV000315359;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982547	22982547	NC_000007.13:g.22982547G>A	ClinGen:CA10628751	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2654G>A	84668	HYCC1	Uncertain significance	rs921143400	RCV001161430;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982554	22982554	7:g.22982554C>T	-
NM_032581.4(HYCC1):c.*2459C>A	84668	HYCC1	Benign	rs79265521	RCV000353668;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982749	22982749	NC_000007.13:g.22982749G>T	ClinGen:CA10628754	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2379AT[1]	84668	HYCC1	Likely benign	rs143367578	RCV000261140;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982826	22982827	NC_000007.13:g.22982826AT[1]	ClinGen:CA10625769	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2286G>A	84668	HYCC1	Uncertain significance	rs774168438	RCV001161431;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22982922	22982922	7:g.22982922C>T	-
NM_032581.4(HYCC1):c.*2198A>G	84668	HYCC1	Likely benign	rs186923912	RCV000318735;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983010	22983010	NC_000007.13:g.22983010T>C	ClinGen:CA10628757	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2111G>A	84668	HYCC1	Uncertain significance	rs886062199	RCV000357225;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983097	22983097	NC_000007.13:g.22983097C>T	ClinGen:CA10628764	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2108G>A	84668	HYCC1	Uncertain significance	rs549000863	RCV000264782;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983100	22983100	NC_000007.13:g.22983100C>T	ClinGen:CA10623664	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2081T>C	84668	HYCC1	Uncertain significance	rs982425822	RCV001161432;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983127	22983127	7:g.22983127A>G	-
NM_032581.4(HYCC1):c.*2062G>T	84668	HYCC1	Uncertain significance	rs886062200	RCV000322208;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983146	22983146	7:g.22983146C>A	ClinGen:CA10625771	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2060A>G	84668	HYCC1	Uncertain significance	rs1302575088	RCV001162967;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983148	22983148	7:g.22983148T>C	-
NM_032581.4(HYCC1):c.*2044A>G	84668	HYCC1	Uncertain significance	rs76692254	RCV000379131;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983164	22983164	7:g.22983164T>C	ClinGen:CA10628766	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*2001T>A	84668	HYCC1	Uncertain significance	rs886062201	RCV000287032;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983207	22983207	7:g.22983207A>T	ClinGen:CA10628767	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1969G>A	84668	HYCC1	Benign	rs77738949	RCV000325292;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983239	22983239	7:g.22983239C>T	ClinGen:CA10628771	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1878T>G	84668	HYCC1	Uncertain significance	rs778469120	RCV000382257;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983330	22983330	7:g.22983330A>C	ClinGen:CA10625783	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1812C>A	84668	HYCC1	Uncertain significance	rs183351542	RCV000290194;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983396	22983396	7:g.22983396G>T	ClinGen:CA10625790	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1796A>G	84668	HYCC1	Uncertain significance	rs886062202	RCV000347463;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983412	22983412	7:g.22983412T>C	ClinGen:CA10628893	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1773C>T	84668	HYCC1	Uncertain significance	rs1360086630	RCV001162968;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983435	22983435	7:g.22983435G>A	-
NM_032581.4(HYCC1):c.*1750G>A	84668	HYCC1	Uncertain significance	rs536545875	RCV001165051;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983458	22983458	7:g.22983458C>T	-
NM_032581.4(HYCC1):c.*1608A>G	84668	HYCC1	Benign	rs10488277	RCV000385752;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983600	22983600	7:g.22983600T>C	ClinGen:CA10625792	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1596A>G	84668	HYCC1	Uncertain significance	rs886062203	RCV000293808;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983612	22983612	7:g.22983612T>C	ClinGen:CA10625794	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1506T>A	84668	HYCC1	Benign	rs4607514	RCV000351086;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983702	22983702	7:g.22983702A>T	ClinGen:CA10623667	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1481G>C	84668	HYCC1	Uncertain significance	rs886062204	RCV000399537;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983727	22983727	NC_000007.13:g.22983727C>G	ClinGen:CA10628772	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1443G>A	84668	HYCC1	Uncertain significance	rs1783965501	RCV001165052;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983765	22983765	7:g.22983765C>T	-
NM_032581.4(HYCC1):c.*1428T>C	84668	HYCC1	Uncertain significance	rs571330609	RCV000297387;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983780	22983780	NC_000007.13:g.22983780A>G	ClinGen:CA10628900	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1382G>A	84668	HYCC1	Uncertain significance	rs907876089	RCV001158340;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983826	22983826	7:g.22983826C>T	-
NM_032581.4(HYCC1):c.*1358C>G	84668	HYCC1	Uncertain significance	rs774463731	RCV001158341;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983850	22983850	7:g.22983850G>C	-
NM_032581.4(HYCC1):c.*1354A>G	84668	HYCC1	Benign	rs4599713	RCV000335946;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983854	22983854	NC_000007.13:g.22983854T>C	ClinGen:CA10625816	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1319T>C	84668	HYCC1	Uncertain significance	rs1783968903	RCV001158342;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983889	22983889	7:g.22983889A>G	-
NM_032581.4(HYCC1):c.*1318A>G	84668	HYCC1	Benign	rs1583511	RCV000406825;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983890	22983890	NC_000007.13:g.22983890T>C	ClinGen:CA10625819	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1255A>G	84668	HYCC1	Uncertain significance	rs886062205	RCV000300867;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22983953	22983953	NC_000007.13:g.22983953T>C	ClinGen:CA10628776	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1059G>A	84668	HYCC1	Uncertain significance	rs573861679	RCV001158343;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984149	22984149	7:g.22984149C>T	-
NM_032581.4(HYCC1):c.*1008G>A	84668	HYCC1	Uncertain significance	rs185370892	RCV000357874;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984200	22984200	NC_000007.13:g.22984200C>T	ClinGen:CA10628901	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*1007T>C	84668	HYCC1	Uncertain significance	rs886062206	RCV000265436;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984201	22984201	NC_000007.13:g.22984201A>G	ClinGen:CA10628777	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*940A>G	84668	HYCC1	Uncertain significance	rs1783979078	RCV001161546;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984268	22984268	7:g.22984268T>C	-
NM_032581.4(HYCC1):c.*858T>A	84668	HYCC1	Benign	rs115040380	RCV000304314;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984350	22984350	NC_000007.13:g.22984350A>T	ClinGen:CA10628917	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*829T>C	84668	HYCC1	Uncertain significance	rs886062207	RCV000361309;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984379	22984379	NC_000007.13:g.22984379A>G	ClinGen:CA10628919	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*798C>G	84668	HYCC1	Likely benign	rs145859643	RCV001161547;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984410	22984410	7:g.22984410G>C	-
NM_032581.4(HYCC1):c.*646T>C	84668	HYCC1	Uncertain significance	rs1783986023	RCV001161548;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984562	22984562	7:g.22984562A>G	-
NM_032581.4(HYCC1):c.*622G>A	84668	HYCC1	Uncertain significance	rs1036494086	RCV001161549;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984586	22984586	7:g.22984586C>T	-
NM_032581.4(HYCC1):c.*583A>G	84668	HYCC1	Likely benign	rs531843289	RCV001163076;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984625	22984625	7:g.22984625T>C	-
NM_032581.4(HYCC1):c.*515A>T	84668	HYCC1	Uncertain significance	rs549927461	RCV000270572;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984693	22984693	NC_000007.13:g.22984693T>A	ClinGen:CA10623670	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*506A>C	84668	HYCC1	Uncertain significance	rs1783988651	RCV001163077;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984702	22984702	7:g.22984702T>G	-
NM_032581.4(HYCC1):c.*452G>T	84668	HYCC1	Uncertain significance	rs570337414	RCV001163078;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984756	22984756	7:g.22984756C>A	-
NM_032581.4(HYCC1):c.*437G>A	84668	HYCC1	Benign	rs78447286	RCV000328043;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984771	22984771	NC_000007.13:g.22984771C>T	ClinGen:CA10628778	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.435_436delinsTG	84668	HYCC1	Uncertain significance	rs71527512	RCV000273924;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984772	22984773	NC_000007.13:g.22984772_22984773delinsCA	ClinGen:CA10623671	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*436T>G	84668	HYCC1	Benign	rs10085448	RCV000384924;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984772	22984772	NC_000007.13:g.22984772A>C	ClinGen:CA10628928	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*435C>T	84668	HYCC1	Benign	rs10085739	RCV000331632;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984773	22984773	NC_000007.13:g.22984773G>A	ClinGen:CA10628785	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*416G>A	84668	HYCC1	Uncertain significance	rs972180494	RCV001163079;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984792	22984792	7:g.22984792C>T	-
NM_032581.4(HYCC1):c.*384A>G	84668	HYCC1	Benign	rs2286494	RCV000388447;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984824	22984824	NC_000007.13:g.22984824T>C	ClinGen:CA10623676	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*372G>C	84668	HYCC1	Likely benign	rs192651934	RCV000296387;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984836	22984836	NC_000007.13:g.22984836C>G	ClinGen:CA10628930	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*314T>C	84668	HYCC1	Uncertain significance	rs1783994218	RCV001165168;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984894	22984894	7:g.22984894A>G	-
NM_032581.4(HYCC1):c.*241T>C	84668	HYCC1	Benign	rs2286493	RCV000335061\|RCV001692042;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	22984967	22984967	NC_000007.13:g.22984967A>G	ClinGen:CA10628941	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*232T>C	84668	HYCC1	Uncertain significance	rs527271452	RCV000373547;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22984976	22984976	NC_000007.13:g.22984976A>G	ClinGen:CA10628947	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*198T>G	84668	HYCC1	Benign	rs2286492	RCV000281285\|RCV001712546;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	22985010	22985010	NC_000007.13:g.22985010A>C	ClinGen:CA10625821	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*180G>A	84668	HYCC1	Uncertain significance	rs886062208	RCV000338765;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985028	22985028	NC_000007.13:g.22985028C>T	ClinGen:CA10625822	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*99G>A	84668	HYCC1	Uncertain significance	rs532878576	RCV001165169;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985109	22985109	7:g.22985109C>T	-
NM_032581.4(HYCC1):c.*94G>A	84668	HYCC1	Uncertain significance	rs886062209	RCV000401868;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985114	22985114	NC_000007.13:g.22985114C>T	ClinGen:CA10628786	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*77C>G	84668	HYCC1	Uncertain significance	rs566103896	RCV000303760;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985131	22985131	NC_000007.13:g.22985131G>C	ClinGen:CA10628949	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.*66G>A	84668	HYCC1	Uncertain significance	rs188273700	RCV001158448;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985142	22985142	7:g.22985142C>T	-
NM_032581.4(HYCC1):c.1561G>A (p.Asp521Asn)	84668	HYCC1	Uncertain significance	-1	RCV001880887;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985213	22985213	22985213	-
NM_032581.4(HYCC1):c.1555T>C (p.Ser519Pro)	84668	HYCC1	Benign	rs76265662	RCV000342314;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985219	22985219	NC_000007.13:g.22985219A>G	ClinGen:CA4185701	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1532C>T (p.Pro511Leu)	84668	HYCC1	Uncertain significance	-1	RCV002913863;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985242	22985242	NC_000007.13:g.22985242G>A	-
NM_032581.4(HYCC1):c.1524G>A (p.Gln508=)	84668	HYCC1	Likely benign	-1	RCV002185076;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985250	22985250	22985250	-
NM_032581.4(HYCC1):c.1519G>C (p.Gly507Arg)	84668	HYCC1	Likely benign	rs140544023	RCV000983884;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985255	22985255	7:g.22985255C>G	-
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs373948210	RCV000389924;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985259	22985259	NC_000007.13:g.22985259T>C	ClinGen:CA4185709	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1515A>C (p.Gln505His)	84668	HYCC1	Uncertain significance	-1	RCV001373684;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985259	22985259	22985259	-
NM_032581.4(HYCC1):c.1506G>A (p.Met502Ile)	84668	HYCC1	Uncertain significance	-1	RCV002622370;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985268	22985268	NC_000007.13:g.22985268C>T	-
NM_032581.4(HYCC1):c.1504A>G (p.Met502Val)	84668	HYCC1	Uncertain significance	rs765967900	RCV000998777\|RCV001869410;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985270	22985270	7:g.22985270T>C	-
NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs143894913	RCV000493583\|RCV001086502;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985282	22985282	7:g.22985282T>C	ClinGen:CA4185716	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1480G>A (p.Val494Ile)	84668	HYCC1	Uncertain significance	rs151228394	RCV000306247\|RCV001509297;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	22985294	22985294	NC_000007.13:g.22985294C>T	ClinGen:CA4185717	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1479C>T (p.Tyr493=)	84668	HYCC1	Uncertain significance	rs759045816	RCV001158449;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985295	22985295	7:g.22985295G>A	-
NM_032581.4(HYCC1):c.1446C>T (p.Ser482=)	84668	HYCC1	Likely benign	-1	RCV002145911;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985328	22985328	22985328	-
NM_032581.4(HYCC1):c.1437T>C (p.Asn479=)	84668	HYCC1	Likely benign	-1	RCV001429417;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985337	22985337	22985337	-
NM_032581.4(HYCC1):c.1423G>A (p.Gly475Arg)	84668	HYCC1	Uncertain significance	-1	RCV001997213;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985351	22985351	22985351	-
NM_032581.4(HYCC1):c.1419G>T (p.Gly473_Ala474=)	84668	HYCC1	Likely benign	-1	RCV002602923;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985355	22985355	NC_000007.13:g.22985355C>A	-
NM_032581.4(HYCC1):c.1415G>A (p.Cys472Tyr)	84668	HYCC1	Likely benign	rs140356119	RCV000864309;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985359	22985359	7:g.22985359C>T	-
NM_032581.4(HYCC1):c.1413T>C (p.Gly471_Cys472=)	84668	HYCC1	Likely benign	-1	RCV003090979;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985361	22985361	NC_000007.13:g.22985361A>G	-
NM_032581.4(HYCC1):c.1408G>C (p.Val470Leu)	84668	HYCC1	Uncertain significance	-1	RCV002736123;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985366	22985366	NC_000007.13:g.22985366C>G	-
NM_032581.4(HYCC1):c.1401A>T (p.Ser467=)	84668	HYCC1	Likely benign	-1	RCV001412943;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985373	22985373	22985373	-
NM_032581.4(HYCC1):c.1397C>T (p.Pro466Leu)	84668	HYCC1	Uncertain significance	rs762851762	RCV000528381;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985377	22985377	7:g.22985377G>A	ClinGen:CA4185735	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1373G>A (p.Ser458Asn)	84668	HYCC1	Uncertain significance	-1	RCV002853471;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985401	22985401	NC_000007.13:g.22985401C>T	-
NM_032581.4(HYCC1):c.1371C>A (p.Val457_Ser458=)	84668	HYCC1	Uncertain significance	-1	RCV002796404;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985403	22985403	NC_000007.13:g.22985403G>T	-
NM_032581.4(HYCC1):c.1347A>T (p.Val449_Phe450=)	84668	HYCC1	Likely benign	-1	RCV003073213;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985427	22985427	NC_000007.13:g.22985427T>A	-
NM_032581.4(HYCC1):c.1341G>A (p.Ala447=)	84668	HYCC1	Likely benign	-1	RCV001432370;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985433	22985433	22985433	-
NM_032581.4(HYCC1):c.1340C>T (p.Ala447Val)	84668	HYCC1	Uncertain significance	-1	RCV002009702;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985434	22985434	22985434	-
NM_032581.4(HYCC1):c.1339G>A (p.Ala447Thr)	84668	HYCC1	Likely benign	rs117545587	RCV000644618;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985435	22985435	NC_000007.13:g.22985435C>T	ClinGen:CA4185746	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1335C>T (p.Thr445=)	84668	HYCC1	Likely benign	-1	RCV002198123;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985439	22985439	22985439	-
NM_032581.4(HYCC1):c.1313G>A (p.Ser438Asn)	84668	HYCC1	Uncertain significance	-1	RCV002651173;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985461	22985461	NC_000007.13:g.22985461C>T	-
NM_032581.4(HYCC1):c.1308G>A (p.Lys436_Pro437=)	84668	HYCC1	Likely benign	-1	RCV002904324;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985466	22985466	NC_000007.13:g.22985466C>T	-
NM_032581.4(HYCC1):c.1291A>G (p.Ser431Gly)	84668	HYCC1	Uncertain significance	-1	RCV001989932;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985483	22985483	22985483	-
NM_032581.4(HYCC1):c.1259T>G (p.Leu420Arg)	84668	HYCC1	Uncertain significance	-1	RCV003014159;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985515	22985515	NC_000007.13:g.22985515A>C	-
NM_032581.4(HYCC1):c.1238C>T (p.Ala413Val)	84668	HYCC1	Uncertain significance	rs1216886022	RCV001161650;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985536	22985536	7:g.22985536G>A	-
NM_032581.4(HYCC1):c.1221A>G (p.Arg407=)	84668	HYCC1	Likely benign	rs370926322	RCV002547303;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985553	22985553	7:g.22985553T>C	-
NM_032581.4(HYCC1):c.1220G>A (p.Arg407Gln)	84668	HYCC1	Uncertain significance	rs753315808	RCV000364404;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985554	22985554	NC_000007.13:g.22985554C>T	ClinGen:CA4185760	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1201T>C (p.Cys401Arg)	84668	HYCC1	Benign/Likely benign	rs563938932	RCV000497826\|RCV001161651;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985573	22985573	7:g.22985573A>G	ClinGen:CA4185765	CN169374 not specified;
NM_032581.4(HYCC1):c.1192G>A (p.Gly398Arg)	84668	HYCC1	Uncertain significance	-1	RCV003071565;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985582	22985582	NC_000007.13:g.22985582C>T	-
NM_032581.4(HYCC1):c.1184A>G (p.Glu395Gly)	84668	HYCC1	Uncertain significance	rs972215357	RCV000644617;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985590	22985590	NC_000007.13:g.22985590T>C	ClinGen:CA155210605	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1178A>G (p.Glu393Gly)	84668	HYCC1	Uncertain significance	-1	RCV003091045;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985596	22985596	NC_000007.13:g.22985596T>C	-
NM_032581.4(HYCC1):c.1176A>G (p.Lys392=)	84668	HYCC1	Likely benign	-1	RCV002080009;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985598	22985598	22985598	-
NM_032581.4(HYCC1):c.1171G>C (p.Gly391Arg)	84668	HYCC1	Benign/Likely benign	rs146591904	RCV000272145\|RCV000498543;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	22985603	22985603	NC_000007.13:g.22985603C>G	ClinGen:CA4185777	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1167T>C (p.Thr389=)	84668	HYCC1	Uncertain significance	rs886062210	RCV000310764;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985607	22985607	NC_000007.13:g.22985607A>G	ClinGen:CA10625832	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1148G>A (p.Arg383Gln)	84668	HYCC1	Uncertain significance	rs146436512	RCV001161652;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985626	22985626	7:g.22985626C>T	-
NM_032581.4(HYCC1):c.1143C>A (p.His381Gln)	84668	HYCC1	Uncertain significance	-1	RCV002761084;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985631	22985631	NC_000007.13:g.22985631G>T	-
NM_032581.4(HYCC1):c.1140C>A (p.Asn380Lys)	84668	HYCC1	Uncertain significance	-1	RCV002761085;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985634	22985634	NC_000007.13:g.22985634G>T	-
NM_032581.4(HYCC1):c.1137G>A (p.Lys379=)	84668	HYCC1	Likely benign	-1	RCV002125359;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985637	22985637	22985637	-
NM_032581.4(HYCC1):c.1135A>G (p.Lys379Glu)	84668	HYCC1	Uncertain significance	rs910400018	RCV001161653;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985639	22985639	7:g.22985639T>C	-
NM_032581.4(HYCC1):c.1132G>A (p.Gly378Arg)	84668	HYCC1	Uncertain significance	-1	RCV002686368;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985642	22985642	NC_000007.13:g.22985642C>T	-
NM_032581.4(HYCC1):c.1130T>C (p.Ile377Thr)	84668	HYCC1	Uncertain significance	-1	RCV002948639;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985644	22985644	NC_000007.13:g.22985644A>G	-
NM_032581.4(HYCC1):c.1113T>C (p.Cys371=)	84668	HYCC1	Likely benign	-1	RCV002219397;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985661	22985661	22985661	-
NM_032581.4(HYCC1):c.1088G>A (p.Gly363Asp)	84668	HYCC1	Uncertain significance	-1	RCV003014698;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985686	22985686	NC_000007.13:g.22985686C>T	-
NM_032581.4(HYCC1):c.1086G>A (p.Ser362=)	84668	HYCC1	Likely benign	rs771923181	RCV000912177\|RCV002065823;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985688	22985688	7:g.22985688C>T	-
NM_032581.4(HYCC1):c.1086G>C (p.Ser362=)	84668	HYCC1	Likely benign	-1	RCV002168089;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985688	22985688	22985688	-
NM_032581.4(HYCC1):c.1085C>T (p.Ser362Leu)	84668	HYCC1	Uncertain significance	-1	RCV002032220;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985689	22985689	22985689	-
NM_032581.4(HYCC1):c.1083G>A (p.Gln361_Ser362=)	84668	HYCC1	Likely benign	-1	RCV002681672;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985691	22985691	NC_000007.13:g.22985691C>T	-
NM_032581.4(HYCC1):c.1076C>T (p.Thr359Ile)	84668	HYCC1	Uncertain significance	-1	RCV001959919;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985698	22985698	22985698	-
NM_032581.4(HYCC1):c.1067C>T (p.Ala356Val)	84668	HYCC1	Uncertain significance	rs752176038	RCV000367815;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985707	22985707	NC_000007.13:g.22985707G>A	ClinGen:CA4185799	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.1064C>T (p.Ala355Val)	84668	HYCC1	Likely benign	rs115568145	RCV000871136;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985710	22985710	7:g.22985710G>A	-
NM_032581.4(HYCC1):c.1044C>T (p.Asp348=)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs768075744	RCV000908024;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985730	22985730	7:g.22985730G>A	-
NM_032581.4(HYCC1):c.1029G>A (p.Glu343=)	84668	HYCC1	Likely benign	-1	RCV002107157;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985745	22985745	22985745	-
NM_032581.4(HYCC1):c.992-6G>T	84668	HYCC1	Likely benign	-1	RCV002578059;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985788	22985788	NC_000007.13:g.22985788C>A	-
NM_032581.4(HYCC1):c.992-11T>G	84668	HYCC1	Benign	rs115772574	RCV001163178;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22985793	22985793	7:g.22985793A>C	-
NM_032581.4(HYCC1):c.991+13T>C	84668	HYCC1	Likely benign	-1	RCV002092623;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999862	22999862	22999862	-
NM_032581.4(HYCC1):c.991+11C>T	84668	HYCC1	Benign/Likely benign	rs141187440	RCV000275418;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999864	22999864	NC_000007.13:g.22999864G>A	ClinGen:CA4185850	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.972T>G (p.Gly324=)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs200916070	RCV000877307\|RCV001163179;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999894	22999894	7:g.22999894A>C	-
NM_032581.4(HYCC1):c.968G>A (p.Arg323Lys)	84668	HYCC1	Uncertain significance	rs200744437	RCV001163180\|RCV001726441;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	22999898	22999898	7:g.22999898C>T	-
NM_032581.4(HYCC1):c.967A>C (p.Arg323_Gly324=)	84668	HYCC1	Likely benign	-1	RCV002998744;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999899	22999899	NC_000007.13:g.22999899T>G	-
NM_032581.4(HYCC1):c.963A>G (p.Ser321=)	84668	HYCC1	Likely benign	-1	RCV002176539;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999903	22999903	22999903	-
NM_032581.4(HYCC1):c.948A>G (p.Ala316=)	84668	HYCC1	Likely benign	-1	RCV002194139;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999918	22999918	22999918	-
NM_032581.4(HYCC1):c.932G>A (p.Arg311Gln)	84668	HYCC1	Uncertain significance	rs148168726	RCV000695418;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999934	22999934	NC_000007.13:g.22999934C>T	-	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.930T>G (p.Ser310=)	84668	HYCC1	Uncertain significance	rs762598890	RCV000332807;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999936	22999936	NC_000007.13:g.22999936A>C	ClinGen:CA4185865	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.896G>A (p.Arg299Lys)	84668	HYCC1	Uncertain significance	-1	RCV003007205;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999970	22999970	NC_000007.13:g.22999970C>T	-
NM_032581.4(HYCC1):c.892A>C (p.Thr298Pro)	84668	HYCC1	Uncertain significance	-1	RCV002001586;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999974	22999974	22999974	-
NM_032581.4(HYCC1):c.878C>T (p.Ser293Phe)	84668	HYCC1	Uncertain significance	-1	RCV002959107;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	22999988	22999988	NC_000007.13:g.22999988G>A	-
NM_032581.4(HYCC1):c.864T>G (p.His288Gln)	84668	HYCC1	Uncertain significance	-1	RCV001509299\|RCV002564281;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000002	23000002	23000002	-
NM_032581.4(HYCC1):c.863A>C (p.His288Pro)	84668	HYCC1	Uncertain significance	-1	RCV002020105;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000003	23000003	23000003	-
NM_032581.4(HYCC1):c.855A>G (p.Ser285=)	84668	HYCC1	Uncertain significance	rs886062211	RCV000389817;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000011	23000011	NC_000007.13:g.23000011T>C	ClinGen:CA10628951	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.834T>G (p.Val278=)	84668	HYCC1	Benign	rs150739070	RCV000528705;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000032	23000032	7:g.23000032A>C	ClinGen:CA4185885	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.832-14dup	84668	HYCC1	Benign	rs1554269900	RCV000548171\|RCV001510881;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000042	23000043	NC_000007.13:g.23000048dup	ClinGen:CA658657665	C1864663 610532 Hypomyelination and Congenital Cataract;
FAM126A:c.627-439_831+348del	84668	HYCC1	Pathogenic	-1	RCV000020928;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000506	23004589	NC_000007.13:g.23000520_23004603del	ClinGen:CA342416,dbVar:nssv3761556,OMIM:610531.0004	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.831+10T>C	84668	HYCC1	Conflicting interpretations of pathogenicity	rs199912375	RCV001163181;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000844	23000844	7:g.23000844A>G	-
NM_032581.4(HYCC1):c.831+6T>C	84668	HYCC1	Uncertain significance	-1	RCV001563654;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000848	23000848	23000848	-
NM_032581.4(HYCC1):c.831+5G>A	84668	HYCC1	Uncertain significance	-1	RCV002829306;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000849	23000849	NC_000007.13:g.23000849C>T	-
NM_032581.4(HYCC1):c.831+4G>A	84668	HYCC1	Uncertain significance	-1	RCV002750920;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000850	23000850	NC_000007.13:g.23000850C>T	-
NM_032581.4(HYCC1):c.831+1G>T	84668	HYCC1	Likely pathogenic	-1	RCV002006855;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000853	23000853	23000853	-
NM_032581.4(HYCC1):c.826T>C (p.Leu276=)	84668	HYCC1	Likely benign	-1	RCV002079829;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000859	23000859	23000859	-
NM_032581.4(HYCC1):c.786T>C (p.Asp262_Ile263=)	84668	HYCC1	Likely benign	-1	RCV002621390;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000899	23000899	NC_000007.13:g.23000899A>G	-
NM_032581.4(HYCC1):c.778C>T (p.Leu260_Asp261=)	84668	HYCC1	Likely benign	-1	RCV002598903;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000907	23000907	NC_000007.13:g.23000907G>A	-
NM_032581.4(HYCC1):c.775G>A (p.Ala259Thr)	84668	HYCC1	Uncertain significance	-1	RCV002014744;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000910	23000910	23000910	-
NM_032581.4(HYCC1):c.766G>C (p.Ala256Pro)	84668	HYCC1	Uncertain significance	rs142984808	RCV000260199\|RCV001355272;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	23000919	23000919	NC_000007.13:g.23000919C>G	ClinGen:CA4185914	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.744-7T>G	84668	HYCC1	Likely benign	-1	RCV002112408;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23000948	23000948	23000948	-
NM_032581.4(HYCC1):c.743+20C>T	84668	HYCC1	Benign/Likely benign	-1	RCV001511460\|RCV001762705;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	23004014	23004014	23004014	-
NM_032581.4(HYCC1):c.733T>A (p.Tyr245Asn)	84668	HYCC1	Uncertain significance	-1	RCV001902614;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004044	23004044	23004044	-
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter)	84668	HYCC1	Pathogenic	-1	RCV001807880;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004055	23004055	23004055	-
NM_032581.4(HYCC1):c.717A>C (p.Gln239His)	84668	HYCC1	Uncertain significance	-1	RCV003020932;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004060	23004060	NC_000007.13:g.23004060T>G	-
NM_032581.4(HYCC1):c.650G>A (p.Arg217Gln)	84668	HYCC1	Benign	rs192409840	RCV000873947\|RCV001165273;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004127	23004127	7:g.23004127C>T	-
NM_032581.4(HYCC1):c.649C>T (p.Arg217Ter)	84668	HYCC1	Pathogenic	-1	RCV001949315;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004128	23004128	23004128	-
NM_032581.4(HYCC1):c.649C>A (p.Arg217=)	84668	HYCC1	Uncertain significance	-1	RCV001940420;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004128	23004128	23004128	-
NM_032581.4(HYCC1):c.641G>A (p.Gly214Glu)	84668	HYCC1	Uncertain significance	-1	RCV002572646;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004136	23004136	NC_000007.13:g.23004136C>T	-
NM_032581.4(HYCC1):c.636T>C (p.Val212=)	84668	HYCC1	Benign	rs139293438	RCV000865134;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004141	23004141	7:g.23004141A>G	-
NM_032581.4(HYCC1):c.628A>G (p.Ile210Val)	84668	HYCC1	Uncertain significance	-1	RCV001592696\|RCV002573358;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004149	23004149	23004149	-
NM_032581.4(HYCC1):c.627-6T>G	84668	HYCC1	Uncertain significance	-1	RCV001990304;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004156	23004156	23004156	-
NM_032581.4(HYCC1):c.627-10G>T	84668	HYCC1	Likely benign	-1	RCV002209800;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23004160	23004160	23004160	-
NM_032581.4(HYCC1):c.626+5A>G	84668	HYCC1	Uncertain significance	rs778280191	RCV000317501\|RCV001770282;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	23015824	23015824	NC_000007.13:g.23015824T>C	ClinGen:CA4185964	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.624A>G (p.Ser208=)	84668	HYCC1	Benign	rs3735231	RCV000020929\|RCV000244607\|RCV000836670;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN169374\|MedGen:CN517202	7	23015831	23015831	NC_000007.13:g.23015831T>C	ClinGen:CA342417	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.608T>C (p.Leu203Pro)	84668	HYCC1	Uncertain significance	-1	RCV001970522;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23015847	23015847	23015847	-
NM_032581.4(HYCC1):c.594T>A (p.Val198=)	84668	HYCC1	Likely benign	rs1041183971	RCV002540922;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23015861	23015861	7:g.23015861A>T	-
NM_032581.4(HYCC1):c.582C>T (p.Tyr194=)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs148453182	RCV000945737;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23015873	23015873	7:g.23015873G>A	-
NM_032581.4(HYCC1):c.549C>T (p.Phe183=)	84668	HYCC1	Likely benign	-1	RCV002208522;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23015906	23015906	23015906	-
NM_032581.4(HYCC1):c.542T>C (p.Leu181Ser)	84668	HYCC1	Uncertain significance	-1	RCV001961077;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23015913	23015913	23015913	-
NM_032581.4(HYCC1):c.531-16T>G	84668	HYCC1	Likely benign	-1	RCV002602331;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23015940	23015940	NC_000007.13:g.23015940A>C	-
NM_032581.4(HYCC1):c.530+14A>G	84668	HYCC1	Uncertain significance	rs886062212	RCV000282207;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016298	23016298	NC_000007.13:g.23016298T>C	ClinGen:CA10628953	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.530+12G>A	84668	HYCC1	Benign/Likely benign	rs139158847	RCV000320866;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016300	23016300	7:g.23016300C>T	ClinGen:CA4185992	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.518C>G (p.Thr173Arg)	84668	HYCC1	Uncertain significance	-1	RCV002735642;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016324	23016324	NC_000007.13:g.23016324G>C	-
NM_032581.4(HYCC1):c.500C>T (p.Pro167Leu)	84668	HYCC1	Uncertain significance	rs546861751	RCV001165274;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016342	23016342	7:g.23016342G>A	-
NM_032581.4(HYCC1):c.487A>G (p.Ser163Gly)	84668	HYCC1	Uncertain significance	-1	RCV003056773;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016355	23016355	NC_000007.13:g.23016355T>C	-
NM_032581.4(HYCC1):c.483A>G (p.Val161=)	84668	HYCC1	Likely benign	-1	RCV002097899;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016359	23016359	23016359	-
NM_032581.4(HYCC1):c.471G>A (p.Leu157_Ser158=)	84668	HYCC1	Likely benign	-1	RCV003036832;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016371	23016371	NC_000007.13:g.23016371C>T	-
NM_032581.4(HYCC1):c.461A>G (p.Gln154Arg)	84668	HYCC1	Uncertain significance	-1	RCV002017806;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016381	23016381	23016381	-
NM_032581.4(HYCC1):c.453A>C (p.Ala151_Leu152=)	84668	HYCC1	Likely benign	-1	RCV002613681;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016389	23016389	NC_000007.13:g.23016389T>G	-
NM_032581.4(HYCC1):c.443C>T (p.Thr148Ile)	84668	HYCC1	Uncertain significance	-1	RCV002024050;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016399	23016399	23016399	-
NM_032581.4(HYCC1):c.432C>G (p.Ser144=)	84668	HYCC1	Benign	-1	RCV002170197;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016410	23016410	23016410	-
NM_032581.4(HYCC1):c.416C>T (p.Pro139Leu)	84668	HYCC1	Uncertain significance	-1	RCV001979320;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016426	23016426	23016426	-
NM_032581.4(HYCC1):c.414+19C>T	84668	HYCC1	Benign	-1	RCV001515366\|RCV001696234;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	23016941	23016941	23016941	-
NM_032581.4(HYCC1):c.414+1G>T	84668	HYCC1	Pathogenic	rs72549406	RCV000001274;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016959	23016959	7:g.23016959C>A	ClinGen:CA339887,OMIM:610531.0002	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.414+1G>A	84668	HYCC1	Pathogenic	-1	RCV001949452;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016959	23016959	23016959	-
NM_032581.4(HYCC1):c.396A>G (p.Lys132_Pro133=)	84668	HYCC1	Likely benign	-1	RCV002715398;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016978	23016978	NC_000007.13:g.23016978T>C	-
NM_032581.4(HYCC1):c.384A>G (p.Pro128_Ser129=)	84668	HYCC1	Likely benign	-1	RCV002993708;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016990	23016990	NC_000007.13:g.23016990T>C	-
NM_032581.4(HYCC1):c.379A>T (p.Ile127Phe)	84668	HYCC1	Uncertain significance	rs760909625	RCV001158556;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016995	23016995	7:g.23016995T>A	-
NM_032581.4(HYCC1):c.378G>A (p.Thr126=)	84668	HYCC1	Likely benign	-1	RCV002127158;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016996	23016996	23016996	-
NM_032581.4(HYCC1):c.377C>T (p.Thr126Met)	84668	HYCC1	Uncertain significance	-1	RCV002953229;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23016997	23016997	NC_000007.13:g.23016997G>A	-
NM_032581.4(HYCC1):c.356A>G (p.His119Arg)	84668	HYCC1	Uncertain significance	rs566774657	RCV000378083;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017018	23017018	7:g.23017018T>C	ClinGen:CA4186030	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.334-3dup	84668	HYCC1	Likely benign	-1	RCV002695687;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017042	23017043	NC_000007.13:g.23017043dup	-
NM_032581.4(HYCC1):c.334-20A>G	84668	HYCC1	Likely benign	-1	RCV002103038;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017060	23017060	23017060	-
NM_032581.4(HYCC1):c.333+15G>A	84668	HYCC1	Likely benign	-1	RCV002628883;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017873	23017873	NC_000007.13:g.23017873C>T	-
NM_032581.4(HYCC1):c.333+11A>C	84668	HYCC1	Likely benign	-1	RCV002179049;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017877	23017877	23017877	-
NM_032581.4(HYCC1):c.321G>C (p.Gly107=)	84668	HYCC1	Likely benign	-1	RCV002200520;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017900	23017900	23017900	-
NM_032581.4(HYCC1):c.318A>C (p.Leu106_Gly107=)	84668	HYCC1	Likely benign	-1	RCV002761657;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017903	23017903	NC_000007.13:g.23017903T>G	-
NM_032581.4(HYCC1):c.302T>C (p.Ile101Thr)	84668	HYCC1	Uncertain significance	rs780427026	RCV000441549\|RCV000764705;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017919	23017919	7:g.23017919A>G	ClinGen:CA4186056	CN517202 not provided;
NM_032581.4(HYCC1):c.301A>G (p.Ile101Val)	84668	HYCC1	Uncertain significance	-1	RCV002595751;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017920	23017920	NC_000007.13:g.23017920T>C	-
NM_032581.4(HYCC1):c.286C>T (p.His96Tyr)	84668	HYCC1	Uncertain significance	-1	RCV003075358;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017935	23017935	NC_000007.13:g.23017935G>A	-
NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs201252505	RCV000285964;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017940	23017940	7:g.23017940T>C	ClinGen:CA4186061	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.269C>T (p.Ser90Leu)	84668	HYCC1	Uncertain significance	-1	RCV003118528;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017952	23017952	NC_000007.13:g.23017952G>A	-
NM_032581.4(HYCC1):c.262G>T (p.Ala88Ser)	84668	HYCC1	Uncertain significance	rs138296939	RCV001330151;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23017959	23017959	23017959	-
NM_032581.4(HYCC1):c.201A>G (p.Gly67_Glu68=)	84668	HYCC1	Likely benign	-1	RCV002814249;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018020	23018020	NC_000007.13:g.23018020T>C	-
NM_032581.4(HYCC1):c.198T>C (p.Ser66_Gly67=)	84668	HYCC1	Likely benign	-1	RCV003108859;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018023	23018023	NC_000007.13:g.23018023A>G	-
NM_032581.4(HYCC1):c.194G>A (p.Arg65His)	84668	HYCC1	Uncertain significance	-1	RCV002871208;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018027	23018027	NC_000007.13:g.23018027C>T	-
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)	84668	HYCC1	Conflicting interpretations of pathogenicity	rs146913158	RCV000870519\|RCV001171984\|RCV001356064;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202\|MedGen:CN169374	7	23018030	23018030	7:g.23018030T>C	-
NM_032581.4(HYCC1):c.176A>G (p.Gln59Arg)	84668	HYCC1	Uncertain significance	-1	RCV001974227;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018045	23018045	23018045	-
NM_032581.4(HYCC1):c.168C>G (p.Val56=)	84668	HYCC1	Likely benign	-1	RCV002156756;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018053	23018053	23018053	-
NM_032581.4(HYCC1):c.158T>C (p.Leu53Pro)	84668	HYCC1	Pathogenic	rs72549407	RCV000001275;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018063	23018063	7:g.23018063A>G	ClinGen:CA339888,UniProtKB:Q9BYI3#VAR_030647,OMIM:610531.0003	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.154-1G>T	84668	HYCC1	Likely pathogenic	-1	RCV003035206;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018068	23018068	NC_000007.13:g.23018068C>A	-
NM_032581.4(HYCC1):c.154-7C>T	84668	HYCC1	Uncertain significance	rs1396582506	RCV001158557;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23018074	23018074	7:g.23018074G>A	-
NM_032581.4(HYCC1):c.150_151dup (p.Glu51fs)	84668	HYCC1	Likely pathogenic	-1	RCV001563655;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023564	23023565	23023564	-
NM_032581.4(HYCC1):c.133A>T (p.Ile45Phe)	84668	HYCC1	Uncertain significance	-1	RCV002982259;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023583	23023583	NC_000007.13:g.23023583T>A	-
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)	84668	HYCC1	Pathogenic/Likely pathogenic	rs780540757	RCV000521546\|RCV001783021;	N	MedGen:CN517202\|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023590	23023591	NC_000007.13:g.23023591dup	ClinGen:CA4186106	CN517202 not provided;
NM_032581.4(HYCC1):c.99C>T (p.Asp33=)	84668	HYCC1	Likely benign	-1	RCV002170103;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023617	23023617	23023617	-
NM_032581.4(HYCC1):c.86C>A (p.Thr29Lys)	84668	HYCC1	Uncertain significance	-1	RCV002623653;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023630	23023630	NC_000007.13:g.23023630G>T	-
NM_032581.4(HYCC1):c.74C>T (p.Pro25Leu)	84668	HYCC1	Uncertain significance	rs981766260	RCV001062627;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023642	23023642	7:g.23023642G>A	-
NM_032581.4(HYCC1):c.52-4T>G	84668	HYCC1	Likely benign	-1	RCV002148457;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023668	23023668	23023668	-
NM_032581.4(HYCC1):c.52-4T>A	84668	HYCC1	Likely benign	-1	RCV002922393;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023668	23023668	NC_000007.13:g.23023668A>T	-
NM_032581.4(HYCC1):c.52-9T>A	84668	HYCC1	Likely benign	-1	RCV002100374;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023673	23023673	23023673	-
NM_032581.4(HYCC1):c.52-13T>A	84668	HYCC1	Likely benign	-1	RCV002125463;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023677	23023677	23023677	-
NM_032581.4(HYCC1):c.52-17T>C	84668	HYCC1	Likely benign	-1	RCV002196583;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23023681	23023681	23023681	-
NM_032581.4(HYCC1):c.51+1G>A	84668	HYCC1	Pathogenic	rs72549405	RCV000001273;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23030679	23030679	7:g.23030679C>T	ClinGen:CA339886,OMIM:610531.0001	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.27G>A (p.Val9=)	84668	HYCC1	Likely benign	-1	RCV001982918;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23030704	23030704	23030704	-
NM_032581.4(HYCC1):c.22G>A (p.Val8Ile)	84668	HYCC1	Uncertain significance	-1	RCV003093170;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23030709	23030709	NC_000007.13:g.23030709C>T	-
NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg)	84668	HYCC1	Likely benign	rs370072584	RCV000981652\|RCV001357417;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|MedGen:CN517202	7	23030712	23030712	7:g.23030712C>G	-
NM_032581.4(HYCC1):c.-29+4A>T	84668	HYCC1	Uncertain significance	rs886062213	RCV000343156;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053540	23053540	7:g.23053540T>A	ClinGen:CA10623678	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.-29+3G>C	84668	HYCC1	Uncertain significance	rs886062214	RCV000399450;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053541	23053541	7:g.23053541C>G	ClinGen:CA10628789	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.-89C>T	84668	HYCC1	Uncertain significance	rs1439064704	RCV001158558;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053604	23053604	7:g.23053604G>A	-
NM_032581.4(HYCC1):c.-111G>A	84668	HYCC1	Uncertain significance	rs183608311	RCV000290134;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053626	23053626	7:g.23053626C>T	ClinGen:CA4186154	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.-186_-183del	84668	HYCC1	Likely benign	rs201235833	RCV000347370;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053698	23053701	7:g.23053698_23053701del	ClinGen:CA4186163	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.4(HYCC1):c.-202C>T	84668	HYCC1	Uncertain significance	rs17150413	RCV000390418;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053717	23053717	7:g.23053717G>A	ClinGen:CA10625851	C1864663 610532 Hypomyelination and Congenital Cataract;
NM_032581.3(HYCC1):c.-256C>T	84668	HYCC1	Uncertain significance	rs963713067	RCV001161765;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163	7	23053771	23053771	7:g.23053771G>A	-
NC_000007.13:g.(?_20994491)_(23030730_?)del	-1	IL6-AS1;SP4;DNAH11;RAPGEF5;STEAP1B;HYCC1;IL6;TOMM7	Pathogenic	-1	RCV003122554\|RCV003107317;	N	MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532, Orphanet:85163\|Human Phenotype Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400, Orphanet:244	7	20994491	23030730		-

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