"GeneDx"[submitter] AND "LOC130000735"[gene] - ClinVar

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Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 1238845	NM_018444.4(PDP1):c.-45+107G>T	LOC130000735, PDP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 510887	NM_018444.4(PDP1):c.-45+155C>T	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1691141	NM_018444.4(PDP1):c.-45+287G>C	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673751	NM_018444.4(PDP1):c.-45+358G>A	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186992	NM_018444.4(PDP1):c.-45+639C>G	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221977	NM_018444.4(PDP1):c.-45+655C>T	LOC130000735, PDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214973	NM_018444.4(PDP1):c.-45+732_-45+733insGCCGCCGCCTCCTC	LOC130000735, PDP1	Insertion (intron variant)	not specified	GUncertain significance