"Illumina Laboratory Services, Illumina"[submitter] AND "POLR3B"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306920	NM_018082.5(POLR3B):c.-186C>A	POLR3B	Single nucleotide variant	Pol III-related leukodystrophy	GUncertain significance
Select item 306921	NM_018082.5(POLR3B):c.-173C>T	POLR3B	Single nucleotide variant	Pol III-related leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 306922	NM_018082.6(POLR3B):c.-106A>G	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GBenign
Select item 306923	NM_018082.6(POLR3B):c.-95C>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign
Select item 306924	NM_018082.6(POLR3B):c.-39G>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306925	NM_018082.6(POLR3B):c.-37G>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306926	NM_018082.6(POLR3B):c.-1C>T	POLR3B	Single nucleotide variant (5 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign
Select item 884047	NM_018082.6(POLR3B):c.106-3T>C	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306927	NM_018082.6(POLR3B):c.399C>T (p.Ile133=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign
Select item 306928	NM_018082.6(POLR3B):c.423T>C (p.Arg141=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 989354	NM_018082.6(POLR3B):c.478G>A (p.Glu160Lys)	POLR3B (E102K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884048	NM_018082.6(POLR3B):c.615-3T>C	POLR3B	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 306929	NM_018082.6(POLR3B):c.685A>T (p.Thr229Ser)	POLR3B (T229S +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884049	NM_018082.6(POLR3B):c.733G>A (p.Val245Ile)	POLR3B (V245I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 880750	NM_018082.6(POLR3B):c.771A>T (p.Thr257=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306930	NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala)	POLR3B (E258A +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +3 more	GBenign/Likely benign
Select item 880751	NM_018082.6(POLR3B):c.780C>T (p.His260=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880752	NM_018082.6(POLR3B):c.846+14T>C	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880753	NM_018082.6(POLR3B):c.966+14C>T	POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880754	NM_018082.6(POLR3B):c.967-9G>A	POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306931	NM_018082.6(POLR3B):c.975A>G (p.Glu325=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign/Likely benign
Select item 306932	NM_018082.6(POLR3B):c.1038A>G (p.Gln346=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306933	NM_018082.6(POLR3B):c.1113T>C (p.Leu371=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 989355	NM_018082.6(POLR3B):c.1121A>G (p.Glu374Gly)	POLR3B (E316G +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +7 more	GConflicting classifications of pathogenicity
Select item 632180	NM_018082.6(POLR3B):c.1263+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 306934	NM_018082.6(POLR3B):c.1401T>A (p.Gly467=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 306935	NM_018082.6(POLR3B):c.1464+14G>A	POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	See cases +9 more	GPathogenic/Likely pathogenic
Select item 882152	NM_018082.6(POLR3B):c.1602A>G (p.Pro534=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306936	NM_018082.6(POLR3B):c.1702A>G (p.Ile568Val)	POLR3B (I568V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 729284	NM_018082.6(POLR3B):c.1707T>C (p.Asn569=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign/Likely benign
Select item 306937	NM_018082.6(POLR3B):c.1776A>T (p.Leu592=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 306938	NM_018082.6(POLR3B):c.1873T>C (p.Leu625=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306939	NM_018082.6(POLR3B):c.1956-8C>T	POLR3B	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306940	NM_018082.6(POLR3B):c.1958A>T (p.Asp653Val)	POLR3B (D653V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GBenign/Likely benign
Select item 130001	NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 306941	NM_018082.6(POLR3B):c.2084-15C>T	POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 306942	NM_018082.6(POLR3B):c.2136A>G (p.Leu712=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 882401	NM_018082.6(POLR3B):c.2179T>C (p.Leu727=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130002	NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala)	POLR3B (T740A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 873511	NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)	POLR3B (A702T +1 more)	Single nucleotide variant (missense variant)	Pol III-related leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 882402	NM_018082.6(POLR3B):c.2301G>T (p.Gly767=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306943	NM_018082.6(POLR3B):c.2334G>A (p.Thr778=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306944	NM_018082.6(POLR3B):c.2449C>T (p.Pro817Ser)	POLR3B (P817S +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884109	NM_018082.6(POLR3B):c.2461G>A (p.Val821Ile)	POLR3B (V763I +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884110	NM_018082.6(POLR3B):c.2669G>T (p.Arg890Leu)	POLR3B (R832L +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306945	NM_018082.6(POLR3B):c.2670T>A (p.Arg890=)	POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884111	NM_018082.6(POLR3B):c.2731G>A (p.Val911Ile)	POLR3B (V911I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884112	NM_018082.6(POLR3B):c.2823G>A (p.Gly941=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306946	NM_018082.6(POLR3B):c.2843C>T (p.Ala948Val)	POLR3B, LOC100287944 (A948V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306947	NM_018082.6(POLR3B):c.2877C>T (p.His959=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 306948	NM_018082.6(POLR3B):c.2905G>A (p.Val969Met)	LOC100287944, POLR3B (V969M +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880811	NM_018082.6(POLR3B):c.2929G>C (p.Val977Leu)	LOC100287944, POLR3B (V919L +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880812	NM_018082.6(POLR3B):c.2933G>A (p.Arg978His)	LOC100287944, POLR3B (R920H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2637961	NM_018082.6(POLR3B):c.2974G>A (p.Gly992Ser)	LOC100287944, POLR3B (G934S +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 880813	NM_018082.6(POLR3B):c.3018C>T (p.Pro1006=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306949	NM_018082.6(POLR3B):c.3087C>T (p.Ala1029=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 880814	NM_018082.6(POLR3B):c.3098+8A>G	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306950	NM_018082.6(POLR3B):c.3105C>T (p.Pro1035=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882204	NM_018082.6(POLR3B):c.3147A>G (p.Glu1049=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306951	NM_018082.6(POLR3B):c.3273-7G>A	LOC100287944, POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306952	NM_018082.6(POLR3B):c.3334C>G (p.Leu1112Val)	LOC100287944, POLR3B (L1112V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306953	NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn)	POLR3B, LOC100287944 (K1130N +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +2 more	GUncertain significance
Select item 130003	NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 882205	NM_018082.6(POLR3B):c.*60A>G	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882206	NM_018082.6(POLR3B):c.*98C>T	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 882207	NM_018082.6(POLR3B):c.*205G>C	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306954	NM_018082.6(POLR3B):c.*238T>C	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306955	NM_018082.6(POLR3B):c.*347A>G	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GBenign
Select item 306956	NM_018082.6(POLR3B):c.*372A>G	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306957	NM_018082.6(POLR3B):c.*442G>A	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306958	NM_018082.6(POLR3B):c.*492A>T	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306959	NM_018082.6(POLR3B):c.*565G>A	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GBenign
Select item 306960	NM_018082.6(POLR3B):c.*582C>G	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GBenign
Select item 306961	NM_018082.6(POLR3B):c.*584A>G	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 306962	NM_018082.6(POLR3B):c.*587G>C	LOC100287944, POLR3B	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 884162	NM_018082.5(POLR3B):c.*653C>T	POLR3B, LOC100287944	Single nucleotide variant	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance

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Items: 78