ClinVar for Gene (Select 5422) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338515	NM_001330360.2(POLA1):c.*503C>G	POLA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3337483	NM_001330360.2(POLA1):c.3328A>T (p.Ser1110Cys)	POLA1 (S1085C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257355	NM_001330360.2(POLA1):c.3282T>C (p.Ala1094=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257298	NM_001330360.2(POLA1):c.2216+4T>G	POLA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251204	NM_001330360.2(POLA1):c.919C>T (p.Leu307Phe)	POLA1 (L301F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250593	NM_001330360.2(POLA1):c.2252C>T (p.Thr751Ile)	POLA1 (T726I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3246807	NC_000023.10:g.(?_24712079)_(24948686_?)dup	POLA1	Duplication	not provided	GUncertain significance
Select item 3246796	NC_000023.10:g.(?_24712079)_(24750591_?)dup	POLA1	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235744	NM_001330360.2(POLA1):c.644C>T (p.Ser215Phe)	POLA1 (S209F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3216292	NM_001330360.2(POLA1):c.3550G>A (p.Val1184Ile)	POLA1 (V1178I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216291	NM_001330360.2(POLA1):c.2680A>G (p.Lys894Glu)	POLA1 (K869E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216290	NM_001330360.2(POLA1):c.2679G>T (p.Gln893His)	POLA1 (Q887H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216289	NM_001330360.2(POLA1):c.1661A>G (p.Gln554Arg)	POLA1 (Q548R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062528	GRCh37/hg19 Xp22.11-21.3(chrX:24731488-25198631)	ARX, POLA1	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3044515	NM_001330360.2(POLA1):c.3296+10G>A	POLA1	Single nucleotide variant (intron variant)	POLA1-related disorder	GLikely benign
Select item 3037718	NM_001330360.2(POLA1):c.3242A>G (p.Lys1081Arg)	POLA1 (K1056R +2 more)	Single nucleotide variant (missense variant +1 more)	POLA1-related disorder	GUncertain significance
Select item 3035755	NM_001330360.2(POLA1):c.2235A>T (p.Leu745Phe)	POLA1 (L720F +2 more)	Single nucleotide variant (missense variant +1 more)	POLA1-related disorder	GUncertain significance
Select item 3032543	NM_001330360.2(POLA1):c.3881C>T (p.Thr1294Ile)	POLA1 (T1269I +2 more)	Single nucleotide variant (missense variant +1 more)	POLA1-related disorder	GUncertain significance
Select item 3026719	NM_001330360.2(POLA1):c.651C>T (p.Val217=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023462	NM_001330360.2(POLA1):c.4048-10T>C	POLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3016051	NM_001330360.2(POLA1):c.619-9C>T	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015466	NM_001330360.2(POLA1):c.2100A>G (p.Glu700=)	POLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015377	NM_001330360.2(POLA1):c.3926T>C (p.Met1309Thr)	POLA1 (M1284T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012181	NM_001330360.2(POLA1):c.3736G>C (p.Gly1246Arg)	POLA1 (G1240R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3006237	NM_001330360.2(POLA1):c.4396G>A (p.Val1466Met)	POLA1 (V1460M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3004927	NM_001330360.2(POLA1):c.2965-12T>C	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004721	NM_001330360.2(POLA1):c.2574T>C (p.Tyr858=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3002032	NM_001330360.2(POLA1):c.2928A>G (p.Lys976=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999083	NM_001330360.2(POLA1):c.265+17T>G	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998632	NM_001330360.2(POLA1):c.171C>G (p.Val57=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997568	NM_001330360.2(POLA1):c.525+17G>A	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996912	NM_001330360.2(POLA1):c.4333C>G (p.Gln1445Glu)	POLA1 (Q1439E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996093	NM_001330360.2(POLA1):c.526-14_526-10del	POLA1	Deletion (intron variant)	not provided	GLikely benign
Select item 2996005	NM_001330360.2(POLA1):c.2964+9C>T	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995099	NM_001330360.2(POLA1):c.1737A>G (p.Ala579=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991981	NM_001330360.2(POLA1):c.1746G>A (p.Lys582=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991082	NM_001330360.2(POLA1):c.1726T>C (p.Leu576=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2991045	NM_001330360.2(POLA1):c.96A>G (p.Lys32=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990331	NM_001330360.2(POLA1):c.1173A>G (p.Arg391=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989985	NM_001330360.2(POLA1):c.347-17_347-14del	POLA1	Deletion (intron variant)	not provided	GLikely benign
Select item 2987247	NM_001330360.2(POLA1):c.3321T>G (p.Ser1107=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986221	NM_001330360.2(POLA1):c.4249G>A (p.Asp1417Asn)	POLA1 (D1392N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985652	NM_001330360.2(POLA1):c.2201T>C (p.Ile734Thr)	POLA1 (I709T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984249	NM_001330360.2(POLA1):c.2281A>C (p.Ile761Leu)	POLA1 (I755L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983056	NM_001330360.2(POLA1):c.1192C>T (p.Arg398Cys)	POLA1 (R392C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2982758	NM_001330360.2(POLA1):c.3634A>G (p.Ile1212Val)	POLA1 (I1212V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982508	NM_001330360.2(POLA1):c.3188C>T (p.Ala1063Val)	POLA1 (A1038V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2982360	NM_001330360.2(POLA1):c.3669C>T (p.His1223=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	POLA1-related disorder +1 more	GLikely benign
Select item 2979329	NM_001330360.2(POLA1):c.1834-8T>C	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974866	NM_001330360.2(POLA1):c.2216+13A>G	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973422	NM_001330360.2(POLA1):c.1834-19G>T	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971382	NM_001330360.2(POLA1):c.3561+17C>T	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968630	NM_001330360.2(POLA1):c.1812C>T (p.Phe604=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2967815	NM_001330360.2(POLA1):c.1918A>G (p.Ile640Val)	POLA1 (I615V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2966386	NM_001330360.2(POLA1):c.3429+14T>A	POLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965404	NM_001330360.2(POLA1):c.1201-8G>T	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965357	NM_001330360.2(POLA1):c.1686+14G>A	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964703	NM_001330360.2(POLA1):c.909-13G>T	POLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964056	NM_001330360.2(POLA1):c.3641C>T (p.Thr1214Ile)	POLA1 (T1208I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963192	NM_001330360.2(POLA1):c.3801T>C (p.Leu1267=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962770	NM_001330360.2(POLA1):c.3737-18T>G	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959096	NM_001330360.2(POLA1):c.2765G>A (p.Arg922Gln)	POLA1 (R922Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958550	NM_001330360.2(POLA1):c.3091-15T>C	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957544	NM_001330360.2(POLA1):c.4147G>A (p.Ala1383Thr)	POLA1 (A1383T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956442	NM_001330360.2(POLA1):c.1200+3A>G	POLA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956276	NM_001330360.2(POLA1):c.3729G>A (p.Thr1243=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918578	NM_001330360.2(POLA1):c.2275T>G (p.Leu759Val)	POLA1 (L734V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2914848	NM_001330360.2(POLA1):c.3916-5T>C	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909460	NM_001330360.2(POLA1):c.2510A>G (p.Lys837Arg)	POLA1 (K812R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2907699	NM_001330360.2(POLA1):c.2400T>C (p.His800=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902471	NM_001330360.2(POLA1):c.3091-4A>C	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900985	NM_001330360.2(POLA1):c.4384G>A (p.Ala1462Thr)	POLA1 (A1462T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2899552	NM_001330360.2(POLA1):c.2375A>G (p.Glu792Gly)	POLA1 (E792G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896671	NM_001330360.2(POLA1):c.397G>A (p.Ala133Thr)	POLA1 (A127T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896206	NM_001330360.2(POLA1):c.16G>A (p.Gly6Ser)	POLA1 (G6S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895039	NM_001330360.2(POLA1):c.1497C>A (p.Ile499=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894432	NM_001330360.2(POLA1):c.2137C>A (p.His713Asn)	POLA1 (H688N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2893859	NM_001330360.2(POLA1):c.763T>G (p.Phe255Val)	POLA1 (F255V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2888045	NM_001330360.2(POLA1):c.1318-10A>G	POLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886520	NM_001330360.2(POLA1):c.3364C>T (p.Leu1122=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2886223	NM_001330360.2(POLA1):c.2142G>T (p.Leu714=)	POLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884526	NM_001330360.2(POLA1):c.3739C>T (p.Leu1247Phe)	POLA1 (L1247F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880091	NM_001330360.2(POLA1):c.603T>C (p.Ser201=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877948	NM_001330360.2(POLA1):c.3736+3A>G	POLA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876179	NM_001330360.2(POLA1):c.327C>T (p.Ala109=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875496	NM_001330360.2(POLA1):c.2773G>A (p.Val925Ile)	POLA1 (V900I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873952	NM_001330360.2(POLA1):c.44-1G>T	POLA1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2873552	NM_001330360.2(POLA1):c.3932C>T (p.Pro1311Leu)	POLA1 (P1311L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871992	NM_001330360.2(POLA1):c.1982A>G (p.Lys661Arg)	POLA1 (K661R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2871580	NM_001330360.2(POLA1):c.3027A>C (p.Thr1009=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870865	NM_001330360.2(POLA1):c.1649T>C (p.Met550Thr)	POLA1 (M544T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870679	NM_001330360.2(POLA1):c.3944G>A (p.Arg1315His)	POLA1 (R1309H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870046	NM_001330360.2(POLA1):c.964A>G (p.Ser322Gly)	POLA1 (S316G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869320	NM_001330360.2(POLA1):c.286G>A (p.Asp96Asn)	POLA1 (D96N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2864606	NM_001330360.2(POLA1):c.3705A>C (p.Gly1235=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863243	NM_001330360.2(POLA1):c.95_96insTGA (p.Lys32delinsAsnGlu)	POLA1	Insertion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2859575	NM_001330360.2(POLA1):c.1317+3T>C	POLA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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