ClinVar for MedGen (Select 390993) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443341.	NM_007055.4(POLR3A):c.2210AGC[4] (p.Gln739_Pro740insGln) GRCh37: Chr10:79764502-79764503 GRCh38: Chr10:78004744-78004745	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 20001722.	NM_007055.4(POLR3A):c.2447G>A (p.Arg816Lys) GRCh37: Chr10:79760765 GRCh38: Chr10:78001007	POLR3A	R816K	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18790693.	NM_007055.4(POLR3A):c.646-665_1185+867del GRCh37: Chr10:79780437-79782807 GRCh38: Chr10:78020679-78023049	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16854104.	NM_018082.6(POLR3B):c.2045G>A (p.Arg682Lys) GRCh37: Chr12:106838330 GRCh38: Chr12:106444552	POLR3B	R624K, R682K	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 13852115.	NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter) GRCh37: Chr10:79777371 GRCh38: Chr10:78017613	POLR3A	Q465*	not provided, Leukodystrophy, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13415256.	NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs) GRCh37: Chr10:79781619-79781620 GRCh38: Chr10:78021861-78021862	POLR3A	Q349fs	Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13332367.	NM_007055.4(POLR3A):c.1910-1G>A GRCh37: Chr10:79767625 GRCh38: Chr10:78007867	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13281308.	NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln) GRCh37: Chr10:79753070 GRCh38: Chr10:77993312	POLR3A	R891Q	POLR3A-related neurological disorders, not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13269739.	NM_007055.4(POLR3A):c.3350T>C (p.Ile1117Thr) GRCh37: Chr10:79743757 GRCh38: Chr10:77983999	POLR3A	I1117T	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 132696610.	NM_007055.4(POLR3A):c.1734A>T (p.Lys578Asn) GRCh37: Chr10:79769658 GRCh38: Chr10:78009900	POLR3A	K578N	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127596711.	NM_018082.6(POLR3B):c.1102-4_1102-3dup GRCh37: Chr12:106820957-106820958 GRCh38: Chr12:106427179-106427180	POLR3B		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease, demyelinating, IIA 1I	Benign (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124180612.	NM_018082.6(POLR3B):c.72+184_72+188del GRCh37: Chr12:106751911-106751915 GRCh38: Chr12:106358133-106358137	POLR3B		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Charcot-Marie-Tooth disease, demyelinating, IIA 1I, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124104913.	NM_018082.6(POLR3B):c.1102-3dup GRCh37: Chr12:106820957-106820958 GRCh38: Chr12:106427179-106427180	POLR3B		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Charcot-Marie-Tooth disease, demyelinating, IIA 1I, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Benign (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118460014.	NM_007055.4(POLR3A):c.2554del (p.Met852fs) GRCh37: Chr10:79759801 GRCh38: Chr10:78000043	POLR3A	M852fs	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely pathogenic	no assertion criteria provided
Select item 118406115.	NM_007055.4(POLR3A):c.930G>C (p.Trp310Cys) GRCh37: Chr10:79781736 GRCh38: Chr10:78021978	POLR3A	W310C	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118406016.	NM_007055.4(POLR3A):c.552_553delinsT (p.Lys184fs) GRCh37: Chr10:79784399-79784400 GRCh38: Chr10:78024641-78024642	POLR3A	K184fs	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118405917.	NM_007055.4(POLR3A):c.496G>A (p.Val166Ile) GRCh37: Chr10:79784456 GRCh38: Chr10:78024698	POLR3A	V166I	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 118405818.	NM_007055.4(POLR3A):c.441dup (p.Asp148Ter) GRCh37: Chr10:79784777-79784778 GRCh38: Chr10:78025019-78025020	LOC126860971, POLR3A	D148*	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118405719.	NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) GRCh37: Chr10:79741296 GRCh38: Chr10:77981538	POLR3A	E1261K	Neonatal pseudo-hydrocephalic progeroid syndrome, not provided	Conflicting interpretations of pathogenicity (Jan 20, 2022)	criteria provided, conflicting interpretations
Select item 118405620.	NM_007055.4(POLR3A):c.3745A>C (p.Asn1249His) GRCh37: Chr10:79741926 GRCh38: Chr10:77982168	POLR3A	N1249H	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118405521.	NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser) GRCh37: Chr10:79741953 GRCh38: Chr10:77982195	POLR3A	G1240S	not provided	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 118405422.	NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) GRCh37: Chr10:79743700 GRCh38: Chr10:77983942	POLR3A	R1136Q	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118405323.	NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp) GRCh37: Chr10:79744965 GRCh38: Chr10:77985207	LOC126860970, POLR3A	R1069W	not provided	Likely pathogenic (Dec 29, 2022)	criteria provided, single submitter
Select item 118405224.	NM_007055.4(POLR3A):c.2988+1G>T GRCh37: Chr10:79745830 GRCh38: Chr10:77986072	POLR3A		Leukodystrophy, not provided	Conflicting interpretations of pathogenicity (Jan 24, 2023)	criteria provided, conflicting interpretations
Select item 118405125.	NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) GRCh37: Chr10:79750892 GRCh38: Chr10:77991134	POLR3A	S941R	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118405026.	NM_007055.4(POLR3A):c.2810A>T (p.Glu937Val) GRCh37: Chr10:79750903 GRCh38: Chr10:77991145	POLR3A	E937V	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404927.	NM_007055.4(POLR3A):c.272C>T (p.Pro91Leu) GRCh37: Chr10:79785426 GRCh38: Chr10:78025668	LOC126860971, POLR3A	P91L	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404828.	NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg) GRCh37: Chr10:79753032 GRCh38: Chr10:77993274	POLR3A	G904R	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404729.	NM_007055.4(POLR3A):c.2660A>T (p.Asp887Val) GRCh37: Chr10:79753082 GRCh38: Chr10:77993324	POLR3A	D887V	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404630.	NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln) GRCh37: Chr10:79753124 GRCh38: Chr10:77993366	POLR3A	R873Q	not provided	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 118404531.	NM_007055.4(POLR3A):c.2549A>G (p.His850Arg) GRCh37: Chr10:79759806 GRCh38: Chr10:78000048	POLR3A	H850R	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404432.	NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) GRCh37: Chr10:79759808 GRCh38: Chr10:78000050	POLR3A	F849L	not provided	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 118404333.	NM_007055.4(POLR3A):c.2411T>C (p.Ile804Thr) GRCh37: Chr10:79760801 GRCh38: Chr10:78001043	POLR3A	I804T	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404234.	NM_007055.4(POLR3A):c.2381A>C (p.Gln794Pro) GRCh37: Chr10:79760831 GRCh38: Chr10:78001073	POLR3A	Q794P	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 118404135.	NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe) GRCh37: Chr10:79764623 GRCh38: Chr10:78004865	POLR3A	I700F	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118404036.	NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln) GRCh37: Chr10:79767489 GRCh38: Chr10:78007731	POLR3A	R682Q	not provided	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 118403937.	NM_007055.4(POLR3A):c.2039T>C (p.Met680Thr) GRCh37: Chr10:79767495 GRCh38: Chr10:78007737	POLR3A	M680T	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403838.	NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) GRCh37: Chr10:79767523 GRCh38: Chr10:78007765	POLR3A	W671R	not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 118403739.	NM_007055.4(POLR3A):c.2005C>G (p.Arg669Gly) GRCh37: Chr10:79767529 GRCh38: Chr10:78007771	POLR3A	R669G	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403640.	NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) GRCh37: Chr10:79767599 GRCh38: Chr10:78007841	POLR3A	L645F	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403541.	NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) GRCh37: Chr10:79769400 GRCh38: Chr10:78009642	POLR3A	S602R	not provided	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 118403442.	NM_007055.4(POLR3A):c.1797G>C (p.Gln599His) GRCh37: Chr10:79769407 GRCh38: Chr10:78009649	POLR3A	Q599H	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403343.	NM_007055.4(POLR3A):c.1795C>A (p.Gln599Lys) GRCh37: Chr10:79769409 GRCh38: Chr10:78009651	POLR3A	Q599K	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403244.	NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) GRCh37: Chr10:79785863 GRCh38: Chr10:78026105	POLR3A	D57N	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403145.	NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile) GRCh37: Chr10:79769734 GRCh38: Chr10:78009976	POLR3A	T553I	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118403046.	NM_007055.4(POLR3A):c.1433C>G (p.Ala478Gly) GRCh37: Chr10:79773547 GRCh38: Chr10:78013789	POLR3A	A478G	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118402947.	NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) GRCh37: Chr10:79777462-79777463 GRCh38: Chr10:78017704-78017705	POLR3A	Y434*	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118402848.	NM_007055.4(POLR3A):c.1289+3A>C GRCh37: Chr10:79778917 GRCh38: Chr10:78019159	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118402749.	NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) GRCh37: Chr10:79779023 GRCh38: Chr10:78019265	POLR3A	V396L	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118402650.	NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) GRCh37: Chr10:79781329 GRCh38: Chr10:78021571	POLR3A	A387G	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 118402551.	NM_007055.4(POLR3A):c.1048+1G>A GRCh37: Chr10:79781617 GRCh38: Chr10:78021859	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	not provided	no assertion provided
Select item 106445252.	NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln) GRCh37: Chr10:79741219 GRCh38: Chr10:77981461	POLR3A	H1286Q	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely pathogenic (Apr 12, 2021)	criteria provided, single submitter
Select item 105164653.	NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) GRCh37: Chr10:79759813 GRCh38: Chr10:78000055	POLR3A	F848L	not provided	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103434654.	NM_007055.4(POLR3A):c.4012G>A (p.Asp1338Asn) GRCh37: Chr10:79739911 GRCh38: Chr10:77980153	POLR3A	D1338N	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 103434555.	NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs) GRCh37: Chr10:79761985-79761991 GRCh38: Chr10:78002227-78002233	POLR3A	N775fs	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic (Jan 10, 2018)	criteria provided, single submitter
Select item 103434456.	NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe) GRCh37: Chr10:79781642 GRCh38: Chr10:78021884	POLR3A	V342F	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 16, 2018)	criteria provided, single submitter
Select item 103018757.	NM_007055.4(POLR3A):c.577T>A (p.Phe193Ile) GRCh37: Chr10:79784375 GRCh38: Chr10:78024617	POLR3A	F193I	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Apr 29, 2019)	criteria provided, single submitter
Select item 103018658.	NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter) GRCh37: Chr10:79741938 GRCh38: Chr10:77982180	POLR3A	R1245*	Leukodystrophy, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103018559.	NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro) GRCh37: Chr10:79741994 GRCh38: Chr10:77982236	POLR3A	L1226P	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103018460.	NM_007055.4(POLR3A):c.3283G>A (p.Ala1095Thr) GRCh37: Chr10:79744016 GRCh38: Chr10:77984258	LOC126860970, POLR3A	A1095T	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Apr 5, 2019)	criteria provided, single submitter
Select item 103018261.	NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn) GRCh37: Chr10:79753056 GRCh38: Chr10:77993298	POLR3A	D896N	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103018162.	NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn) GRCh37: Chr10:79759862 GRCh38: Chr10:78000104	POLR3A	K831N	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Nov 25, 2019)	criteria provided, single submitter
Select item 102912663.	NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln) GRCh37: Chr10:79760789 GRCh38: Chr10:78001031	POLR3A	R808Q	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Aug 11, 2022)	criteria provided, conflicting interpretations
Select item 102912564.	NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) GRCh37: Chr10:79761964 GRCh38: Chr10:78002206	POLR3A	G784S	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely pathogenic (Dec 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 102912465.	NM_007055.4(POLR3A):c.-15C>T GRCh37: Chr10:79789180 GRCh38: Chr10:78029422	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Feb 14, 2019)	criteria provided, single submitter
Select item 98717766.	NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) GRCh37: Chr10:79785941 GRCh38: Chr10:78026183	POLR3A	Q31*	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98693767.	NM_007055.4(POLR3A):c.1572+1G>T GRCh37: Chr10:79773407 GRCh38: Chr10:78013649	POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Jan 24, 2023)	criteria provided, conflicting interpretations
Select item 97671868.	NM_007055.4(POLR3A):c.1771-6C>G GRCh37: Chr10:79769439 GRCh38: Chr10:78009681	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91621869.	NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) GRCh37: Chr10:79785906 GRCh38: Chr10:78026148	POLR3A	Y42*	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91602470.	NM_007055.4(POLR3A):c.2779A>G (p.Asn927Asp) GRCh37: Chr10:79752963 GRCh38: Chr10:77993205	POLR3A	N927D	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance	no assertion criteria provided
Select item 88022771.	NM_007055.4(POLR3A):c.181-11T>A GRCh37: Chr10:79785528 GRCh38: Chr10:78025770	LOC126860971, POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88017372.	NM_007055.4(POLR3A):c.1770+6T>C GRCh37: Chr10:79769616 GRCh38: Chr10:78009858	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided, Inborn genetic diseases	Uncertain significance (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88012773.	NM_007055.4(POLR3A):c.2993G>A (p.Arg998His) GRCh37: Chr10:79745739 GRCh38: Chr10:77985981	POLR3A	R998H	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88007974.	NM_007055.4(POLR3A):c.*150G>C GRCh37: Chr10:79737086 GRCh38: Chr10:77977328	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88007875.	NM_007055.4(POLR3A):c.*201G>A GRCh37: Chr10:79737035 GRCh38: Chr10:77977277	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88007776.	NM_007055.4(POLR3A):c.*303C>T GRCh37: Chr10:79736933 GRCh38: Chr10:77977175	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88007677.	NM_007055.4(POLR3A):c.*308A>T GRCh37: Chr10:79736928 GRCh38: Chr10:77977170	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88007578.	NM_007055.4(POLR3A):c.*339A>G GRCh37: Chr10:79736897 GRCh38: Chr10:77977139	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88007479.	NM_007055.4(POLR3A):c.*344C>T GRCh37: Chr10:79736892 GRCh38: Chr10:77977134	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88002080.	NM_007055.4(POLR3A):c.*1335A>G GRCh37: Chr10:79735901 GRCh38: Chr10:77976143	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88001981.	NM_007055.4(POLR3A):c.*1339A>C GRCh37: Chr10:79735897 GRCh38: Chr10:77976139	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88001882.	NM_007055.4(POLR3A):c.*1341A>C GRCh37: Chr10:79735895 GRCh38: Chr10:77976137	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88001783.	NM_007055.4(POLR3A):c.*1342A>G GRCh37: Chr10:79735894 GRCh38: Chr10:77976136	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87965384.	NM_007055.4(POLR3A):c.*1457G>A GRCh37: Chr10:79735779 GRCh38: Chr10:77976021	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87965285.	NM_007055.4(POLR3A):c.*1564C>G GRCh37: Chr10:79735672 GRCh38: Chr10:77975914	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87965186.	NM_007055.4(POLR3A):c.*1585C>T GRCh37: Chr10:79735651 GRCh38: Chr10:77975893	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87965087.	NM_007055.4(POLR3A):c.*1607G>A GRCh37: Chr10:79735629 GRCh38: Chr10:77975871	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87964988.	NM_007055.4(POLR3A):c.*1643C>T GRCh37: Chr10:79735593 GRCh38: Chr10:77975835	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87900889.	NM_007055.4(POLR3A):c.282T>C (p.His94=) GRCh37: Chr10:79785416 GRCh38: Chr10:78025658	LOC126860971, POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 87895490.	NM_007055.4(POLR3A):c.1771-5C>G GRCh37: Chr10:79769438 GRCh38: Chr10:78009680	POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 87895391.	NM_007055.4(POLR3A):c.1824C>T (p.Ser608=) GRCh37: Chr10:79769380 GRCh38: Chr10:78009622	POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Sep 8, 2021)	criteria provided, conflicting interpretations
Select item 87895292.	NM_007055.4(POLR3A):c.1910-13A>G GRCh37: Chr10:79767637 GRCh38: Chr10:78007879	POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 87890693.	NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His) GRCh37: Chr10:79742529 GRCh38: Chr10:77982771	POLR3A	R1159H	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87890594.	NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) GRCh37: Chr10:79742025 GRCh38: Chr10:77982267	POLR3A	E1216K	not provided, POLR3A-related condition, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87886595.	NM_007055.4(POLR3A):c.*586G>A GRCh37: Chr10:79736650 GRCh38: Chr10:77976892	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87886496.	NM_007055.4(POLR3A):c.*671T>C GRCh37: Chr10:79736565 GRCh38: Chr10:77976807	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87841897.	NM_007055.4(POLR3A):c.774T>C (p.Pro258=) GRCh37: Chr10:79782014 GRCh38: Chr10:78022256	POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 87841798.	NM_007055.4(POLR3A):c.871G>A (p.Asp291Asn) GRCh37: Chr10:79781917 GRCh38: Chr10:78022159	POLR3A	D291N	not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87841699.	NM_007055.4(POLR3A):c.1049-6A>C GRCh37: Chr10:79781446 GRCh38: Chr10:78021688	POLR3A		Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 878363100.	NM_007055.4(POLR3A):c.2081G>A (p.Arg694His) GRCh37: Chr10:79764640 GRCh38: Chr10:78004882	POLR3A	R694H	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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