"Fulgent Genetics, Fulgent Genetics"[submitter] AND "POLR3B"[gene] - ClinVar - NCBI

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

Search results

Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1241806	NM_018082.6(POLR3B):c.72+184_72+188del	POLR3B	Deletion (5 prime UTR variant +1 more)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GBenign
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 1275967	NM_018082.6(POLR3B):c.1102-4_1102-3dup	POLR3B	Duplication (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GBenign
Select item 1241049	NM_018082.6(POLR3B):c.1102-3dup	POLR3B	Duplication (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GBenign
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +7 more	GConflicting classifications of pathogenicity
Select item 488794	NM_018082.6(POLR3B):c.1263+2T>C	POLR3B	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GPathogenic/Likely pathogenic
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy +9 more	GPathogenic/Likely pathogenic