"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379918	NM_018082.6(POLR3B):c.2818-1G>T	LOC100287944, POLR3B	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1184072	NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg)	LOC100287944, POLR3B (S909R +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 1184075	NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)	LOC100287944, POLR3B (N924D +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 1184077	NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys)	LOC100287944, POLR3B (Y1003C +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 1184088	NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro)	LOC100287944, POLR3B (L1012P +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 211934	NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)	LOC100287944, POLR3B (Y1058C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2412776	NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)	POLR3B, LOC100287944 (M1062V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GUncertain significance
Select item 419123	NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr)	LOC100287944, POLR3B (I1106T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity