"POLR3B-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412739	NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)	POLR3B (R329Q +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 2634611	NM_018082.6(POLR3B):c.1076A>C (p.Asn359Thr)	POLR3B (N301T +1 more)	Single nucleotide variant (missense variant)	POLR3B-related disorder	GUncertain significance
Select item 3050877	NM_018082.6(POLR3B):c.1102-5_1102-3del	POLR3B	Deletion (intron variant)	POLR3B-related disorder	GLikely benign
Select item 1291993	NM_018082.6(POLR3B):c.1102-4_1102-3del	POLR3B	Deletion (intron variant)	POLR3B-related disorder +1 more	GBenign
Select item 1048512	NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)	POLR3B (D317V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034949	NM_018082.6(POLR3B):c.1135A>G (p.Lys379Glu)	POLR3B (K321E +1 more)	Single nucleotide variant (missense variant)	POLR3B-related disorder	GUncertain significance
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +9 more	GPathogenic/Likely pathogenic
Select item 729182	NM_018082.6(POLR3B):c.1628-9T>A	POLR3B	Single nucleotide variant (intron variant)	POLR3B-related disorder +1 more	GBenign/Likely benign
Select item 2071839	NM_018082.6(POLR3B):c.1689A>G (p.Arg563=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3033444	NM_018082.6(POLR3B):c.1857-21C>T	POLR3B	Single nucleotide variant (intron variant)	POLR3B-related disorder	GLikely benign
Select item 1672138	NM_018082.6(POLR3B):c.1857-20T>A	POLR3B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 31161	NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)	POLR3B (R768H +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +3 more	GConflicting classifications of pathogenicity
Select item 3061733	NM_018082.6(POLR3B):c.2463A>G (p.Val821=)	POLR3B	Single nucleotide variant (synonymous variant)	POLR3B-related disorder	GLikely benign
Select item 1690970	NM_018082.6(POLR3B):c.2796C>T (p.His932=)	POLR3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3051566	NM_018082.6(POLR3B):c.2820G>T (p.Val940=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	POLR3B-related disorder	GLikely benign
Select item 1690968	NM_018082.6(POLR3B):c.3066C>A (p.Ala1022=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2082947	NM_018082.6(POLR3B):c.3321G>A (p.Pro1107=)	LOC100287944, POLR3B	Single nucleotide variant (synonymous variant)	POLR3B-related disorder +1 more	GLikely benign