ClinVar for MedGen (Select 140806) - ClinVar

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Items: 35

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13415251.	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 11840572.	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 10274763.	NM_007055.4(POLR3A):c.3839dup (p.Met1280fs) GRCh37: Chr10:79741237-79741238 GRCh38: Chr10:77981479-77981480	POLR3A	M1280fs	not provided, Neonatal pseudo-hydrocephalic progeroid syndrome	Pathogenic (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10274754.	NM_007055.4(POLR3A):c.4073G>A (p.Gly1358Glu) GRCh37: Chr10:79737336 GRCh38: Chr10:77977578	POLR3A	G1358E	Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 9314245.	NM_007055.4(POLR3A):c.2988+18C>T GRCh37: Chr10:79745813 GRCh38: Chr10:77986055	POLR3A		not provided, Neonatal pseudo-hydrocephalic progeroid syndrome	Conflicting interpretations of pathogenicity (Aug 25, 2022)	criteria provided, conflicting interpretations
Select item 9304596.	NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser) GRCh37: Chr10:79767552 GRCh38: Chr10:78007794	POLR3A	N661S	not provided, Neonatal pseudo-hydrocephalic progeroid syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8059347.	NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C] GRCh37: Chr10:79769273 Chr10:79743781 GRCh38: Chr10:78009515 Chr10:77984023	POLR3A, POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome	Pathogenic (Feb 13, 2019)	no assertion criteria provided
Select item 6190388.	NM_007055.4(POLR3A):c.3243-2A>G GRCh37: Chr10:79744058 GRCh38: Chr10:77984300	LOC126860970, POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided	Pathogenic (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6190379.	NM_007055.4(POLR3A):c.1572+1G>A GRCh37: Chr10:79773407 GRCh38: Chr10:78013649	POLR3A		not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 61903610.	NM_007055.4(POLR3A):c.490+1G>A GRCh37: Chr10:79784728 GRCh38: Chr10:78024970	LOC126860971, POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome	Pathogenic (Oct 1, 2018)	criteria provided, single submitter
Select item 61789411.	NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) GRCh37: Chr10:79782028 GRCh38: Chr10:78022270	POLR3A	R254*	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome, not provided, Pol III-related leukodystrophy	Pathogenic/Likely pathogenic (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 61789312.	NM_007055.4(POLR3A):c.3337-1G>A GRCh37: Chr10:79743771 GRCh38: Chr10:77984013	POLR3A		not provided	Likely pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 61789113.	NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) GRCh37: Chr10:79767529 GRCh38: Chr10:78007771	POLR3A	R669*	not provided, Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 54957214.	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) GRCh37: Chr10:79743715 GRCh38: Chr10:77983957	POLR3A	K1131R	not provided, Neonatal pseudo-hydrocephalic progeroid syndrome	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 54957115.	NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) GRCh37: Chr10:79741203 GRCh38: Chr10:77981445	POLR3A	D1292N	POLR3A-related disorders, Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 54957016.	NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) GRCh37: Chr10:79739920 GRCh38: Chr10:77980162	POLR3A	G1335R	Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (May 1, 2018)	criteria provided, single submitter
Select item 54956617.	NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) GRCh37: Chr10:79753035 GRCh38: Chr10:77993277	POLR3A	G903R	Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Apr 1, 2018)	criteria provided, single submitter
Select item 54956518.	NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) GRCh37: Chr10:79789163 GRCh38: Chr10:78029405	POLR3A	M1I	Neonatal pseudo-hydrocephalic progeroid syndrome	Pathogenic/Likely pathogenic (Oct 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54956419.	NM_007055.4(POLR3A):c.*18C>T GRCh37: Chr10:79737218 GRCh38: Chr10:77977460	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Oct 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54956320.	NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs) GRCh37: Chr10:79741304-79741305 GRCh38: Chr10:77981546-77981547	POLR3A	L1258fs	Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Apr 1, 2018)	criteria provided, single submitter
Select item 54956221.	NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) GRCh37: Chr10:79769404 GRCh38: Chr10:78009646	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Apr 1, 2018)	criteria provided, single submitter
Select item 54956122.	NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) GRCh37: Chr10:79760738 GRCh38: Chr10:78000980	POLR3A	S825*	Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Apr 1, 2018)	criteria provided, single submitter
Select item 54956023.	NM_007055.4(POLR3A):c.1048+5G>T GRCh37: Chr10:79781613 GRCh38: Chr10:78021855	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Apr 1, 2018)	criteria provided, single submitter
Select item 54955924.	NM_007055.4(POLR3A):c.3337-11T>C GRCh37: Chr10:79743781 GRCh38: Chr10:77984023	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic/Likely pathogenic (Oct 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54955825.	NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) GRCh37: Chr10:79744964 GRCh38: Chr10:77985206	LOC126860970, POLR3A	R1069Q	not provided, Neonatal pseudo-hydrocephalic progeroid syndrome	Likely pathogenic (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44955626.	NM_007055.4(POLR3A):c.1771-7C>G GRCh37: Chr10:79769440 GRCh38: Chr10:78009682	POLR3A		POLR3A-related condition, POLR3A-related disorders, Pol III-related leukodystrophy, Neonatal pseudo-hydrocephalic progeroid syndrome, not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Conflicting interpretations of pathogenicity (Apr 27, 2023)	criteria provided, conflicting interpretations
Select item 44592227.	NM_007055.4(POLR3A):c.1909+22G>A GRCh37: Chr10:79769273 GRCh38: Chr10:78009515	POLR3A		POLR3A-related condition, POLR3A-related neurological disorders, POLR3A-related disorders, Pol III-related leukodystrophy, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Inborn genetic diseases, Neonatal pseudo-hydrocephalic progeroid syndrome, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2023)	criteria provided, conflicting interpretations
Select item 43259428.	NM_007055.4(POLR3A):c.3337-5T>A GRCh37: Chr10:79743775 GRCh38: Chr10:77984017	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome, not provided	Pathogenic/Likely pathogenic (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30106829.	NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) GRCh37: Chr10:79769668 GRCh38: Chr10:78009910	POLR3A	K575M	Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23546630.	NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) GRCh37: Chr10:79753125 GRCh38: Chr10:77993367	POLR3A	R873*	Leukodystrophy, POLR3A-related condition, not provided	Pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21193031.	NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) GRCh37: Chr10:79745881 GRCh38: Chr10:77986123	POLR3A	I980V	not provided, Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not specified, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13000032.	NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) GRCh37: Chr10:79769647 GRCh38: Chr10:78009889	POLR3A	R582L	Neonatal pseudo-hydrocephalic progeroid syndrome, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3114933.	NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) GRCh37: Chr10:79745719 GRCh38: Chr10:77985961	POLR3A	R1005C	Neonatal pseudo-hydrocephalic progeroid syndrome, not provided, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3114634.	NM_007055.4(POLR3A):c.2617-1G>A GRCh37: Chr10:79753126 GRCh38: Chr10:77993368	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy, not provided	Pathogenic/Likely pathogenic (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3114435.	NM_007055.4(POLR3A):c.1909+18G>A GRCh37: Chr10:79769277 GRCh38: Chr10:78009519	POLR3A		Neonatal pseudo-hydrocephalic progeroid syndrome, not provided	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 35