LOC126860971[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 57888	GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3	DLG5, DLG5-AS1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1249274	NM_007055.4(POLR3A):c.491-109A>G	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629609	NM_007055.4(POLR3A):c.490+16A>G	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617720	NM_007055.4(POLR3A):c.490+12G>T	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917712	NM_007055.4(POLR3A):c.490+8G>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 619036	NM_007055.4(POLR3A):c.490+1G>A	LOC126860971, POLR3A	Single nucleotide variant (splice donor variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GPathogenic
Select item 301081	NM_007055.4(POLR3A):c.481G>A (p.Ala161Thr)	LOC126860971, POLR3A (A161T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2999683	NM_007055.4(POLR3A):c.480C>T (p.Gly160=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399984	NM_007055.4(POLR3A):c.476G>A (p.Cys159Tyr)	POLR3A, LOC126860971 (C159Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908275	NM_007055.4(POLR3A):c.462C>T (p.Asn154=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437386	NM_007055.4(POLR3A):c.452G>A (p.Arg151Gln)	LOC126860971, POLR3A (R151Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187253	NM_007055.4(POLR3A):c.451C>T (p.Arg151Trp)	LOC126860971, POLR3A (R151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1184058	NM_007055.4(POLR3A):c.441dup (p.Asp148Ter)	LOC126860971, POLR3A (D148*)	Duplication (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 768374	NM_007055.4(POLR3A):c.438C>T (p.Ile146=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2640625	NM_007055.4(POLR3A):c.421G>A (p.Gly141Arg)	LOC126860971, POLR3A (G141R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151264	NM_007055.4(POLR3A):c.419G>A (p.Arg140Gln)	LOC126860971, POLR3A (R140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31147	NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter)	LOC126860971, POLR3A (R140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2809059	NM_007055.4(POLR3A):c.414G>A (p.Gln138=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766412	NM_007055.4(POLR3A):c.411T>G (p.Leu137=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309014	NM_007055.4(POLR3A):c.407A>T (p.Tyr136Phe)	LOC126860971, POLR3A (Y136F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029226	NM_007055.4(POLR3A):c.399C>T (p.Gly133=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	POLR3A-related disorder	GLikely benign
Select item 1897633	NM_007055.4(POLR3A):c.398G>T (p.Gly133Val)	LOC126860971, POLR3A (G133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446880	NM_007055.4(POLR3A):c.397G>A (p.Gly133Ser)	LOC126860971, POLR3A (G133S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1561351	NM_007055.4(POLR3A):c.396C>G (p.Pro132=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709701	NM_007055.4(POLR3A):c.396C>T (p.Pro132=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116450	NM_007055.4(POLR3A):c.386T>A (p.Leu129Gln)	LOC126860971, POLR3A (L129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662770	NM_007055.4(POLR3A):c.384T>C (p.Tyr128=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130358	NM_007055.4(POLR3A):c.383A>G (p.Tyr128Cys)	LOC126860971, POLR3A (Y128C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242502	NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del)	POLR3A, LOC126860971 (K123del)	Microsatellite (inframe_deletion)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 2308871	NM_007055.4(POLR3A):c.367A>C (p.Lys123Gln)	LOC126860971, POLR3A (K123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136898	NM_007055.4(POLR3A):c.346A>G (p.Met116Val)	LOC126860971, POLR3A (M116V)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 1517733	NM_007055.4(POLR3A):c.342C>A (p.His114Gln)	LOC126860971, POLR3A (H114Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413017	NM_007055.4(POLR3A):c.340C>T (p.His114Tyr)	LOC126860971, POLR3A (H114Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164195	NM_007055.4(POLR3A):c.319-19C>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300732	NM_007055.4(POLR3A):c.319-125C>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691619	NM_007055.4(POLR3A):c.319-196_319-195del	LOC126860971, POLR3A	Deletion (intron variant)	not provided	GLikely benign
Select item 1913399	NM_007055.4(POLR3A):c.318+16C>T	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664926	NM_007055.4(POLR3A):c.318+15G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573935	NM_007055.4(POLR3A):c.318+13G>T	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301082	NM_007055.4(POLR3A):c.318+13G>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 1498033	NM_007055.4(POLR3A):c.318+5G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2018301	NM_007055.4(POLR3A):c.318+3A>G	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1352466	NM_007055.4(POLR3A):c.310A>G (p.Ile104Val)	LOC126860971, POLR3A (I104V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2900624	NM_007055.4(POLR3A):c.300A>G (p.Ala100=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640626	NM_007055.4(POLR3A):c.296G>T (p.Arg99Ile)	LOC126860971, POLR3A (R99I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419408	NM_007055.4(POLR3A):c.295A>G (p.Arg99Gly)	LOC126860971, POLR3A (R99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815451	NM_007055.4(POLR3A):c.285A>G (p.Val95=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 879008	NM_007055.4(POLR3A):c.282T>C (p.His94=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3052098	NM_007055.4(POLR3A):c.275G>A (p.Cys92Tyr)	LOC126860971, POLR3A (C92Y)	Single nucleotide variant (missense variant)	POLR3A-related disorder	GUncertain significance
Select item 1625743	NM_007055.4(POLR3A):c.275G>C (p.Cys92Ser)	LOC126860971, POLR3A (C92S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1144252	NM_007055.4(POLR3A):c.273G>A (p.Pro91=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1184049	NM_007055.4(POLR3A):c.272C>T (p.Pro91Leu)	LOC126860971, POLR3A (P91L)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Gnot provided
Select item 1467994	NM_007055.4(POLR3A):c.271C>T (p.Pro91Ser)	LOC126860971, POLR3A (P91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449594	NM_007055.4(POLR3A):c.259G>A (p.Asp87Asn)	LOC126860971, POLR3A (D87N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640627	NM_007055.4(POLR3A):c.258C>T (p.Ile86=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126528	NM_007055.4(POLR3A):c.258C>A (p.Ile86=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887494	NM_007055.4(POLR3A):c.252G>A (p.Gly84=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2500201	NM_007055.4(POLR3A):c.251G>A (p.Gly84Glu)	LOC126860971, POLR3A (G84E)	Single nucleotide variant (missense variant)	POLR3A-related disorder	GLikely pathogenic
Select item 301083	NM_007055.4(POLR3A):c.240A>C (p.Leu80=)	POLR3A, LOC126860971	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GBenign
Select item 1408117	NM_007055.4(POLR3A):c.234C>A (p.Asp78Glu)	LOC126860971, POLR3A (D78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382598	NM_007055.4(POLR3A):c.232G>A (p.Asp78Asn)	LOC126860971, POLR3A (D78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405154	NM_007055.4(POLR3A):c.229G>T (p.Ala77Ser)	LOC126860971, POLR3A (A77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1969375	NM_007055.4(POLR3A):c.219G>A (p.Gly73=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304562	NM_007055.4(POLR3A):c.200G>A (p.Arg67His)	LOC126860971, POLR3A (R67H)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GUncertain significance
Select item 715238	NM_007055.4(POLR3A):c.186G>A (p.Thr62=)	LOC126860971, POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1381131	NM_007055.4(POLR3A):c.185C>T (p.Thr62Met)	LOC126860971, POLR3A (T62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079635	NM_007055.4(POLR3A):c.181-6T>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574687	NM_007055.4(POLR3A):c.181-8T>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 880227	NM_007055.4(POLR3A):c.181-11T>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 2104806	NM_007055.4(POLR3A):c.181-14G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898570	NM_007055.4(POLR3A):c.181-16G>A	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 73