Related gene-specific medical variations for Gene (Select 51082) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 1600572	NM_015972.4(POLR1D):c.26+18G>A	LOC130009445, POLR1D	Single nucleotide variant (intron variant)	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 1289199	NM_015972.4(POLR1D):c.26+58G>T	LOC130009445, POLR1D	Single nucleotide variant (intron variant)	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 1246047	NM_015972.3(POLR1D):c.-110C>A	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 1238128	NM_015972.3(POLR1D):c.-149C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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

ClinVar