Related gene-specific medical variations for Gene (Select 5424) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248477	NC_000019.9:g.(?_50903077)_(50910587_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248476	NC_000019.9:g.(?_50919077)_(50920308_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248475	NC_000019.9:g.(?_50905025)_(50906864_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248473	NC_000019.9:g.(?_50887648)_(50921204_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248471	NC_000019.9:g.(?_50904019)_(50905638_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248470	NC_000019.9:g.(?_50905015)_(50906874_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248469	NC_000019.9:g.(?_50902109)_(50912943_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3240168	NM_002691.4(POLD1):c.1514GCC[4] (p.Arg507_Leu508insArg)	POLD1	Microsatellite (inframe_insertion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3240167	NM_002691.4(POLD1):c.1606G>A (p.Ala536Thr)	POLD1 (A536T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2682049	NM_002691.4(POLD1):c.1383+1G>A	POLD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2682048	NM_002691.4(POLD1):c.1231C>G (p.Gln411Glu)	POLD1 (Q411E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2677933	NM_002691.4(POLD1):c.1408C>T (p.Arg470Cys)	POLD1 (R470C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2677932	NM_002691.4(POLD1):c.1476C>A (p.Ser492Arg)	POLD1 (S492R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2677931	NM_002691.4(POLD1):c.1511C>A (p.Thr504Asn)	POLD1 (T504N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2677930	NM_002691.4(POLD1):c.1025T>C (p.Leu342Pro)	POLD1 (L342P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2677927	NM_002691.4(POLD1):c.1454A>G (p.Gln485Arg)	POLD1 (Q485R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2435144	NM_002691.4(POLD1):c.1854C>G (p.Tyr618Ter)	POLD1 (Y618* +1 more)	Single nucleotide variant (nonsense +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome	GUncertain significance
Select item 1292465	NM_002691.4(POLD1):c.3219-154C>G	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271328	NM_002691.4(POLD1):c.3219-160_3219-155del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GBenign
Select item 1263519	NM_002691.4(POLD1):c.3219-52C>A	LOC130064986, POLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259130	NM_002691.4(POLD1):c.3219-161del	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 1251080	NM_002691.4(POLD1):c.3219-160_3219-157del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GBenign
Select item 1228143	NM_002691.4(POLD1):c.3219-140G>T	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 1214673	NM_002691.4(POLD1):c.3219-156_3219-151del	LOC130064985, POLD1	Deletion (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 1209190	NM_002691.4(POLD1):c.3219-164_3219-161del	LOC130064985, POLD1	Deletion (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 1201005	NM_002691.4(POLD1):c.3219-168_3219-161dup	LOC130064985, POLD1	Duplication (intron variant)	not provided	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 1195811	NM_002691.4(POLD1):c.3219-166_3219-161dup	LOC130064985, POLD1	Duplication (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 1175496	NM_002691.4(POLD1):c.3219-160_3219-154del	LOC130064985, POLD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1174544	NM_002691.4(POLD1):c.2816C>G (p.Ser939Trp)	POLD1 (S965W)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1035815	NC_000019.9:g.(?_50909693)_50912034del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 932036	NM_002691.4(POLD1):c.2221G>A (p.Val741Met)	POLD1 (V767M +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome	GUncertain significance
Select item 682475	NM_002691.4(POLD1):c.3219-193C>A	LOC130064985, POLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 560821	NM_002691.4(POLD1):c.317-10dup	POLD1	Duplication (intron variant)	not provided	GLikely benign
Select item 560819	NM_002691.4(POLD1):c.2154+20del	POLD1	Deletion (intron variant)	not provided	GLikely benign
Select item 507762	NM_001256849.1(POLD1):c.-51G>C	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 423128	NM_002691.4(POLD1):c.-44_-36delinsACACGGCGA	LOC130064984, POLD1	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 382308	NM_002691.4(POLD1):c.-32A>G	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380428	NM_001256849.1(POLD1):c.-51G>A	LOC130064984, POLD1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 223917	NM_002691.4(POLD1):c.3219-70C>T	LOC130064986, POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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Links from Gene

Items: 46