"Ambry Genetics"[submitter] AND "POLR3B"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271370	NM_018082.6(POLR3B):c.68T>C (p.Val23Ala)	POLR3B (V23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388218	NM_018082.6(POLR3B):c.337A>G (p.Ile113Val)	POLR3B (I113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985233	NM_018082.6(POLR3B):c.434G>A (p.Cys145Tyr)	POLR3B (C145Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473245	NM_018082.6(POLR3B):c.488T>C (p.Leu163Ser)	POLR3B (L105S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884048	NM_018082.6(POLR3B):c.615-3T>C	POLR3B	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2609055	NM_018082.6(POLR3B):c.715A>C (p.Ile239Leu)	POLR3B (I181L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884049	NM_018082.6(POLR3B):c.733G>A (p.Val245Ile)	POLR3B (V245I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2300737	NM_018082.6(POLR3B):c.884G>A (p.Arg295Lys)	POLR3B (R295K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322324	NM_018082.6(POLR3B):c.1043A>G (p.Asp348Gly)	POLR3B (D348G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2364972	NM_018082.6(POLR3B):c.1102C>G (p.Leu368Val)	POLR3B (L310V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302844	NM_018082.6(POLR3B):c.1216A>G (p.Met406Val)	POLR3B (M406V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 632180	NM_018082.6(POLR3B):c.1263+1G>A	POLR3B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2249347	NM_018082.6(POLR3B):c.1464+3A>G	POLR3B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2455877	NM_018082.6(POLR3B):c.1809G>T (p.Lys603Asn)	POLR3B (K603N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062912	NM_018082.6(POLR3B):c.1856+3A>C	POLR3B	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2265086	NM_018082.6(POLR3B):c.2230A>G (p.Met744Val)	POLR3B (M686V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530889	NM_018082.6(POLR3B):c.2308C>G (p.Leu770Val)	POLR3B (L770V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611333	NM_018082.6(POLR3B):c.2482G>A (p.Val828Ile)	POLR3B (V828I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324996	NM_018082.6(POLR3B):c.2533G>A (p.Val845Ile)	POLR3B (V845I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249678	NM_018082.6(POLR3B):c.2571-6C>T	POLR3B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2313918	NM_018082.6(POLR3B):c.2571-3C>T	POLR3B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2295522	NM_018082.6(POLR3B):c.2624C>T (p.Ala875Val)	POLR3B (A875V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333851	NM_018082.6(POLR3B):c.2668C>T (p.Arg890Cys)	POLR3B (R832C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311123	NM_018082.6(POLR3B):c.2702A>G (p.His901Arg)	POLR3B (H843R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216109	NM_018082.6(POLR3B):c.2728A>G (p.Ile910Val)	POLR3B (I852V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230705	NM_018082.6(POLR3B):c.2740G>A (p.Glu914Lys)	POLR3B (E856K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2483840	NM_018082.6(POLR3B):c.2900G>C (p.Ser967Thr)	LOC100287944, POLR3B (S909T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880812	NM_018082.6(POLR3B):c.2933G>A (p.Arg978His)	LOC100287944, POLR3B (R920H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1516296	NM_018082.6(POLR3B):c.3019G>A (p.Val1007Met)	LOC100287944, POLR3B (V1007M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2513132	NM_018082.6(POLR3B):c.3397G>A (p.Glu1133Lys)	LOC100287944, POLR3B (E1075K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237155	NM_018082.6(POLR3B):c.3397G>C (p.Glu1133Gln)	LOC100287944, POLR3B (E1133Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33