"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "POLR1A"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012949	NM_015425.6(POLR1A):c.4963A>G (p.Lys1655Glu)	POLR1A (K1655E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012950	NM_015425.6(POLR1A):c.4832C>T (p.Thr1611Met)	POLR1A (T1611M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651097	NM_015425.6(POLR1A):c.4413G>A (p.Glu1471=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546865	NM_015425.6(POLR1A):c.4273-5G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 727530	NM_015425.6(POLR1A):c.3843G>T (p.Leu1281=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546866	NM_015425.6(POLR1A):c.2969+8G>A	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2158526	NM_015425.6(POLR1A):c.2565G>C (p.Gln855His)	POLR1A (Q855H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 791465	NM_015425.6(POLR1A):c.2040G>A (p.Pro680=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 714612	NM_015425.6(POLR1A):c.1821G>A (p.Glu607=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1674580	NM_015425.6(POLR1A):c.1580C>T (p.Thr527Met)	POLR1A (T527M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 774163	NM_015425.6(POLR1A):c.1511G>A (p.Arg504His)	POLR1A (R504H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 774832	NM_015425.6(POLR1A):c.537A>C (p.Ala179=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 779225	NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro)	POLR1A (R158P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 730448	NM_015425.6(POLR1A):c.450C>T (p.Pro150=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879530	GRCh37/hg19 2p11.2(chr2:86292397-86509365)x3	IMMT, MRPL35 +3 more	Copy number gain	not provided	GUncertain significance