"GeneDx"[submitter] AND "LOC130009445"[gene] - ClinVar - NCBI

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Items: 10

	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