LOC130064985[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 583662	NC_000019.9:g.(?_50902099)_(50921214_?)dup	LOC130064985, LOC130064986 +1 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 223918	NM_002691.4(POLD1):c.3219-250G>T	LOC130064985, POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1200692	NM_002691.4(POLD1):c.3219-194G>A	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682475	NM_002691.4(POLD1):c.3219-193C>A	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213452	NM_002691.4(POLD1):c.3219-167_3219-161dup	LOC130064985, POLD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1201005	NM_002691.4(POLD1):c.3219-168_3219-161dup	LOC130064985, POLD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1195811	NM_002691.4(POLD1):c.3219-166_3219-161dup	LOC130064985, POLD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1259130	NM_002691.4(POLD1):c.3219-161del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GBenign
Select item 1209190	NM_002691.4(POLD1):c.3219-164_3219-161del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1183183	NM_002691.4(POLD1):c.3219-168C>G	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203823	NM_002691.4(POLD1):c.3219-160_3219-153del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1175496	NM_002691.4(POLD1):c.3219-160_3219-154del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1271328	NM_002691.4(POLD1):c.3219-160_3219-155del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GBenign
Select item 1251080	NM_002691.4(POLD1):c.3219-160_3219-157del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GBenign
Select item 1252165	NM_002691.4(POLD1):c.3219-160del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GBenign
Select item 1214673	NM_002691.4(POLD1):c.3219-156_3219-151del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1292465	NM_002691.4(POLD1):c.3219-154C>G	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215683	NM_002691.4(POLD1):c.3219-154C>A	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228143	NM_002691.4(POLD1):c.3219-140G>T	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 24