ClinVar for MedGen (Select 811623) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1341327	NM_002691.4(POLD1):c.1711C>G (p.Pro571Ala)	POLD1 (P571A)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome	GUncertain significance
Select item 1301641	NM_002691.4(POLD1):c.3199G>A (p.Glu1067Lys)	POLD1 (E1067K +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome	GPathogenic
Select item 1292424	NM_002691.4(POLD1):c.202+21T>C	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1266936	NM_001256849.1(POLD1):c.*68T>C	POLD1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1245273	NM_002691.4(POLD1):c.2954-39A>G	POLD1	Single nucleotide variant (intron variant)	Mandibular hypoplasia-deafness-progeroid syndrome +2 more	GBenign
Select item 995953	NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg)	POLD1 (Q1062R +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 992943	NM_002691.4(POLD1):c.3214A>G (p.Thr1072Ala)	POLD1 (T1072A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 931289	NM_002691.4(POLD1):c.1384-10A>C	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 847974	NM_002691.4(POLD1):c.2434C>A (p.Leu812Met)	POLD1 (L838M +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 834404	NM_002691.4(POLD1):c.3001G>A (p.Gly1001Ser)	POLD1 (G1001S +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 747672	NM_002691.4(POLD1):c.1681C>A (p.Arg561=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 575159	NM_002691.4(POLD1):c.364G>A (p.Val122Met)	POLD1 (V122M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 573996	NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu)	POLD1 (Q733E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 570525	NM_002691.4(POLD1):c.652C>T (p.Arg218Cys)	POLD1 (R218C)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GUncertain significance
Select item 537107	NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp)	POLD1 (R1011W +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +2 more	GUncertain significance
Select item 537100	NM_002691.4(POLD1):c.623C>T (p.Pro208Leu)	POLD1 (P208L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 537065	NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala)	POLD1 (T666A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 537052	NM_002691.4(POLD1):c.2959dup	POLD1	Duplication (splice acceptor variant)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 486073	NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys)	POLD1 (R506C)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 484376	NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)	POLD1 (I431V)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +4 more	GConflicting classifications of pathogenicity
Select item 469322	NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr)	POLD1 (I1039T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 469296	NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu)	POLD1 (D920E +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 469265	NM_002691.4(POLD1):c.2458G>A (p.Ala820Thr)	POLD1 (A820T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 469225	NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp)	POLD1 (R623W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 469213	NM_002691.4(POLD1):c.1717G>T (p.Val573Leu)	POLD1 (V573L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 469207	NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln)	POLD1 (R525Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 469170	NM_002691.4(POLD1):c.1055G>T (p.Arg352Leu)	POLD1 (R352L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 439256	NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys)	POLD1 (R875C +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +2 more	GUncertain significance
Select item 422465	NM_002691.4(POLD1):c.2987C>T (p.Thr996Met)	POLD1 (T1022M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 421647	NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met)	POLD1 (T1056M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 421519	NM_002691.4(POLD1):c.2565-3C>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 421222	NM_002691.4(POLD1):c.965G>A (p.Arg322His)	POLD1 (R322H)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 408120	NM_002691.4(POLD1):c.301A>T (p.Ile101Phe)	POLD1 (I101F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 408088	NM_002691.4(POLD1):c.223A>G (p.Ile75Val)	POLD1 (I75V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 408071	NM_002691.4(POLD1):c.1294C>T (p.Arg432Trp)	POLD1 (R432W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 408063	NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg)	POLD1 (G1126R +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 408058	NM_002691.4(POLD1):c.257C>T (p.Ala86Val)	POLD1 (A86V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 408026	NM_002691.4(POLD1):c.2066G>A (p.Arg689Gln)	POLD1 (R715Q +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 408024	NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu)	POLD1 (P347L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 408005	NM_002691.4(POLD1):c.2574G>T (p.Glu858Asp)	POLD1 (E884D +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GUncertain significance
Select item 408003	NM_002691.4(POLD1):c.1607C>T (p.Ala536Val)	POLD1 (A536V)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 407998	NM_002691.4(POLD1):c.34G>A (p.Gly12Arg)	POLD1 (G12R)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +4 more	GConflicting classifications of pathogenicity
Select item 407993	NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn)	POLD1 (D644N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 407992	NM_002691.4(POLD1):c.2142G>A (p.Leu714=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GConflicting classifications of pathogenicity
Select item 407990	NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter)	POLD1 (R855* +1 more)	Single nucleotide variant (nonsense +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 407972	NM_002691.4(POLD1):c.1811C>A (p.Ser604Tyr)	POLD1 (S604Y +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 407970	NM_002691.4(POLD1):c.367C>T (p.Pro123Ser)	POLD1 (P123S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 407966	NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys)	POLD1 (R849C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 407963	NM_002691.4(POLD1):c.511G>T (p.Ala171Ser)	POLD1 (A171S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 407960	NM_002691.4(POLD1):c.343C>T (p.Pro115Ser)	POLD1 (P115S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 407957	NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly)	POLD1 (R432G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 407953	NM_002691.4(POLD1):c.1363G>A (p.Val455Met)	POLD1 (V455M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 389301	NM_002691.4(POLD1):c.933C>T (p.Arg311=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 383417	NM_002691.4(POLD1):c.1785C>T (p.Asp595=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 381833	NM_002691.4(POLD1):c.783C>T (p.Val261=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 380221	NM_002691.4(POLD1):c.2718-12A>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign
Select item 380220	NM_002691.4(POLD1):c.356G>A (p.Arg119His)	POLD1 (R119H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign
Select item 380219	NM_002691.4(POLD1):c.324G>A (p.Ala108=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 372001	NM_002691.4(POLD1):c.590-2A>G	POLD1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 371890	NM_002691.4(POLD1):c.463+8G>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 258788	NM_002691.4(POLD1):c.2953+12C>T	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 258787	NM_002691.4(POLD1):c.1485C>T (p.Thr495=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign
Select item 246444	NM_002691.4(POLD1):c.713C>T (p.Thr238Met)	POLD1 (T238M)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 246387	NM_002691.4(POLD1):c.934G>A (p.Val312Met)	POLD1 (V312M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 239371	NM_002691.4(POLD1):c.866A>G (p.Asp289Gly)	POLD1 (D289G)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 239370	NM_002691.4(POLD1):c.820G>A (p.Ala274Thr)	POLD1 (A274T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 239350	NM_002691.4(POLD1):c.497G>A (p.Arg166Gln)	POLD1 (R166Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity OUncertain significance
Select item 239345	NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)	POLD1 (S118F)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 239314	NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg)	POLD1 (T954R +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 239295	NM_002691.4(POLD1):c.2470A>G (p.Met824Val)	POLD1 (M824V +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 239294	NM_002691.4(POLD1):c.245C>T (p.Pro82Leu)	POLD1 (P82L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 239286	NM_002691.4(POLD1):c.232C>T (p.Arg78Cys)	POLD1 (R78C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 239285	NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)	POLD1 (R776Q +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 239281	NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser)	POLD1 (G764S +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 239267	NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)	POLD1 (G68E)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 239244	NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)	POLD1 (R521Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 239232	NM_002691.4(POLD1):c.1366C>G (p.Gln456Glu)	POLD1 (Q456E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 239230	NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)	POLD1 (T441M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 239224	NM_002691.4(POLD1):c.1157G>A (p.Arg386His)	POLD1 (R386H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GUncertain significance
Select item 225288	NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	POLD1 (V70F)	Single nucleotide variant (missense variant +1 more)	Carcinoma of colon +5 more	GConflicting classifications of pathogenicity
Select item 221171	NM_002691.4(POLD1):c.496C>T (p.Arg166Trp)	POLD1 (R166W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 221163	NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)	POLD1 (R30W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 221152	NM_002691.4(POLD1):c.778A>G (p.Ile260Val)	POLD1 (I260V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 221138	NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)	POLD1 (A145T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GBenign/Likely benign
Select item 221136	NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)	POLD1 (G321S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 221116	NM_002691.4(POLD1):c.376C>T (p.Arg126Cys)	POLD1 (R126C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 221055	NM_002691.4(POLD1):c.56G>A (p.Arg19His)	POLD1 (R19H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 220913	NM_002691.4(POLD1):c.324G>T (p.Ala108=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 220865	NM_002691.4(POLD1):c.2546G>A (p.Arg849His)	POLD1 (R849H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 60775	NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)	POLD1 (S605del +1 more)	Microsatellite (inframe_deletion +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GPathogenic

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Items: 92