"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344599	NM_018082.6(POLR3B):c.1199T>C (p.Phe400Ser)	POLR3B (F342S +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	Gassociation
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	See cases +8 more	GPathogenic/Likely pathogenic
Select item 1254737	NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter)	POLR3B (K663* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1344603	NM_018082.6(POLR3B):c.2637dup (p.Leu880fs)	POLR3B (L822fs +1 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism	Gassociation
Select item 1344593	NM_018082.6(POLR3B):c.2818-2A>T	LOC100287944, POLR3B	Single nucleotide variant (splice acceptor variant)	Hypogonadotropic hypogonadism	Gassociation
Select item 1344756	NM_018082.6(POLR3B):c.2932C>T (p.Arg978Cys)	LOC100287944, POLR3B (R920C +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance

ClinVar