"GeneDx"[submitter] AND "POLR1D"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 1226247	NM_001206559.2(POLR1D):c.-59+555C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1283811	NM_001206559.2(POLR1D):c.-59+612G>A	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1238128	NM_015972.3(POLR1D):c.-149C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1246047	NM_015972.3(POLR1D):c.-110C>A	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289980	NM_015972.3(POLR1D):c.-107C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244100	NM_015972.4(POLR1D):c.-88G>C	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289199	NM_015972.4(POLR1D):c.26+58G>T	LOC130009445, POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244891	NM_015972.4(POLR1D):c.26+175A>G	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237916	NM_015972.4(POLR1D):c.26+252G>A	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223160	NM_015972.4(POLR1D):c.27-193G>C	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278842	NM_015972.4(POLR1D):c.27-180G>A	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211448	NM_015972.4(POLR1D):c.27-177A>T	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432758	NM_015972.4(POLR1D):c.56C>T (p.Ala19Val)	POLR1D (A19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451304	NM_015972.4(POLR1D):c.99_144del (p.Gly34fs)	POLR1D (G34fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 546551	NM_015972.4(POLR1D):c.170dup (p.Tyr57Ter)	POLR1D (Y57*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 596330	NM_015972.4(POLR1D):c.177C>T (p.Ile59=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1305575	NM_015972.4(POLR1D):c.186C>A (p.Asn62Lys)	POLR1D (N62K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367394	NM_015972.4(POLR1D):c.188C>G (p.Pro63Arg)	POLR1D (P63R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431348	NM_015972.4(POLR1D):c.206G>C (p.Gly69Ala)	POLR1D (G69A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308865	NM_015972.4(POLR1D):c.224C>A (p.Pro75His)	POLR1D (P75H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31049	NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter)	POLR1D (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 311651	NM_015972.4(POLR1D):c.261A>G (p.Arg87=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1712768	NM_015972.4(POLR1D):c.275C>T (p.Ala92Val)	POLR1D (A92V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1191207	NM_015972.4(POLR1D):c.308T>C (p.Leu103Pro)	POLR1D (L103P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369827	NM_015972.4(POLR1D):c.324A>T (p.Gln108His)	POLR1D (Q108H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1697036	NM_015972.4(POLR1D):c.329T>C (p.Val110Ala)	POLR1D (V110A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1310000	NM_015972.4(POLR1D):c.329T>A (p.Val110Glu)	POLR1D (V110E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312729	NM_015972.4(POLR1D):c.365A>C (p.Lys122Thr)	POLR1D (K122T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687710	NM_015972.4(POLR1D):c.379A>G (p.Ser127Gly)	POLR1D (S127G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 311653	NM_015972.4(POLR1D):c.*30C>A	POLR1D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1258656	NM_015972.4(POLR1D):c.*49C>T	POLR1D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1178251	NM_152705.3(POLR1D):c.27-195A>G	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219351	NM_152705.3(POLR1D):c.101+70T>C	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186645	NM_152705.3(POLR1D):c.101+120C>T	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227552	NM_152705.3(POLR1D):c.101+272_101+274del	POLR1D	Microsatellite (intron variant)	not provided	GBenign
Select item 805222	NM_152705.3(POLR1D):c.117T>C (p.Leu39=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1274674	NM_152705.3(POLR1D):c.219G>C (p.Ala73=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1178219	NM_152705.3(POLR1D):c.249G>A (p.Pro83=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 805223	NM_152705.3(POLR1D):c.278A>G (p.His93Arg)	POLR1D (H65R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 805225	NM_152705.3(POLR1D):c.354G>T (p.Arg118=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2575718	NM_152705.3(POLR1D):c.*50del	POLR1D	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1229025	NM_152705.3(POLR1D):c.*187G>A	POLR1D	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1219989	NM_152705.3(POLR1D):c.*226A>G	POLR1D	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253868	GRCh37/hg19 13q12.2(chr13:28122430-28255931)x3	POLR1D, LNX2	Copy number gain	See cases	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3361090	NM_015972.4(POLR1D):c.146A>G (p.His49Arg)	POLR1D (H49R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 49