ClinVar for MedGen (Select 1811493) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068453	NM_018082.6(POLR3B):c.1757C>T (p.Ser586Phe)	POLR3B (S528F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GUncertain significance
Select item 1341670	NM_018082.6(POLR3B):c.1087G>A (p.Glu363Lys)	POLR3B (E363K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GPathogenic
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 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 1241049	NM_018082.6(POLR3B):c.1102-3dup	POLR3B	Duplication (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GBenign
Select item 1048513	NM_018082.6(POLR3B):c.3137G>A (p.Arg1046His)	POLR3B, LOC100287944 (R1046H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +1 more	GPathogenic/Likely pathogenic
Select item 1048512	NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)	POLR3B (D317V +1 more)	Single nucleotide variant (missense variant)	POLR3B-related condition +1 more	GConflicting classifications of pathogenicity
Select item 973230	NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)	POLR3B (R710C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +2 more	GConflicting classifications of pathogenicity
Select item 972978	NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)	POLR3B (A365V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GPathogenic
Select item 424793	NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]			Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
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 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 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