"Ambry Genetics"[submitter] AND "LOC126860971"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301081	NM_007055.4(POLR3A):c.481G>A (p.Ala161Thr)	LOC126860971, POLR3A (A161T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1437386	NM_007055.4(POLR3A):c.452G>A (p.Arg151Gln)	LOC126860971, POLR3A (R151Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187253	NM_007055.4(POLR3A):c.451C>T (p.Arg151Trp)	LOC126860971, POLR3A (R151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309014	NM_007055.4(POLR3A):c.407A>T (p.Tyr136Phe)	LOC126860971, POLR3A (Y136F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1446880	NM_007055.4(POLR3A):c.397G>A (p.Gly133Ser)	LOC126860971, POLR3A (G133S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2308871	NM_007055.4(POLR3A):c.367A>C (p.Lys123Gln)	LOC126860971, POLR3A (K123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1352466	NM_007055.4(POLR3A):c.310A>G (p.Ile104Val)	LOC126860971, POLR3A (I104V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1405154	NM_007055.4(POLR3A):c.229G>T (p.Ala77Ser)	LOC126860971, POLR3A (A77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance