POLH[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356887	NM_006502.3(POLH):c.-242C>G	POLH	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 1313195	NM_006502.3(POLH):c.-4-3C>T	POLH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 631983	NM_006502.3(POLH):c.-4-1G>C	POLH	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2876786	NM_006502.3(POLH):c.9T>G (p.Thr3=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826404	NM_006502.3(POLH):c.24G>A (p.Val8=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798060	NM_006502.3(POLH):c.24G>T (p.Val8=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991073	NM_006502.3(POLH):c.33C>T (p.Leu11=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865714	NM_006502.3(POLH):c.54del (p.Phe18fs)	POLH (F18fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 5885	NM_006502.3(POLH):c.54_57del (p.Val19fs)	POLH (V19fs)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type	GPathogenic
Select item 2963634	NM_006502.3(POLH):c.88A>C (p.Arg30=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792428	NM_006502.3(POLH):c.102T>C (p.Cys34=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737975	NM_006502.3(POLH):c.104C>T (p.Ala35Val)	POLH (A35V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 5884	NM_006502.3(POLH):c.106_118del (p.Val36fs)	POLH (V36fs)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type	GPathogenic
Select item 1692919	NM_006502.3(POLH):c.112C>G (p.Gln38Glu)	POLH (Q38E)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 3011942	NM_006502.3(POLH):c.114G>A (p.Gln38=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800522	NM_006502.3(POLH):c.120A>G (p.Lys40=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1692921	NM_006502.3(POLH):c.134G>A (p.Gly45Asp)	POLH (G45D)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 2980232	NM_006502.3(POLH):c.137+11T>C	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871454	NM_006502.3(POLH):c.137+13G>A	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020702	NM_006502.3(POLH):c.137+16A>T	POLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225992	NM_006502.3(POLH):c.137+72GTG[8]	POLH	Microsatellite (intron variant)	not provided	GBenign
Select item 1203127	NM_006502.3(POLH):c.137+71T>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293861	NM_006502.3(POLH):c.137+275G>A	POLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186628	NM_006502.3(POLH):c.138-205C>T	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274970	NM_006502.3(POLH):c.138-186G>A	POLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2979376	NM_006502.3(POLH):c.138-11dup	POLH	Duplication (intron variant)	not provided	GBenign
Select item 2974214	NM_006502.3(POLH):c.138-11del	POLH	Deletion (intron variant)	not provided	GBenign
Select item 2873376	NM_006502.3(POLH):c.138-18T>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703196	NM_006502.3(POLH):c.138-12T>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000806	NM_006502.3(POLH):c.138-11T>C	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703474	NM_006502.3(POLH):c.138-10C>T	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3216338	NM_006502.3(POLH):c.146C>T (p.Ala49Val)	POLH (A49V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 631984	NM_006502.3(POLH):c.149dup (p.Ser51fs)	POLH (S51fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2897260	NM_006502.3(POLH):c.156T>C (p.Tyr52=)	POLH (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2979591	NM_006502.3(POLH):c.165T>C (p.Arg55=)	POLH (V4A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3006014	NM_006502.3(POLH):c.168A>T (p.Ala56=)	POLH (H5L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2843987	NM_006502.3(POLH):c.168A>G (p.Ala56=)	POLH (H5R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2756379	NM_006502.3(POLH):c.202dup (p.Ala68fs)	POLH (A68fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 5892	NM_006502.3(POLH):c.207del (p.Lys70fs)	POLH (K70fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum variant type	GPathogenic
Select item 2863997	NM_006502.3(POLH):c.210G>A (p.Lys70=)	POLH (S19N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1692929	NM_006502.3(POLH):c.210G>T (p.Lys70Asn)	POLH (K70N +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GUncertain significance
Select item 2873451	NM_006502.3(POLH):c.228A>G (p.Leu76=)	POLH (Y25C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 911727	NM_006502.3(POLH):c.229C>T (p.Leu77=)	POLH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356898	NM_006502.3(POLH):c.232G>A (p.Ala78Thr)	POLH (A78T +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 2868347	NM_006502.3(POLH):c.267C>A (p.Leu89=)	POLH (S38*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3308465	NM_006502.3(POLH):c.271A>G (p.Lys91Glu)	POLH (K91E)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2017400	NM_006502.3(POLH):c.272+1G>C	POLH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2987539	NM_006502.3(POLH):c.272+8A>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704604	NM_006502.3(POLH):c.272+9A>T	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985273	NM_006502.3(POLH):c.272+11A>C	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988819	NM_006502.3(POLH):c.272+18_272+21del	POLH	Deletion (intron variant)	not provided	GLikely benign
Select item 1293882	NM_006502.3(POLH):c.273-175T>C	POLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222307	NM_006502.3(POLH):c.273-32T>C	POLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2776164	NM_006502.3(POLH):c.273-10T>C	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706401	NM_006502.3(POLH):c.273-10T>A	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704342	NM_006502.3(POLH):c.273-9A>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844483	NM_006502.3(POLH):c.273-8C>T	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866192	NM_006502.3(POLH):c.273-7T>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020508	NM_006502.3(POLH):c.273-5C>T	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737775	NM_006502.3(POLH):c.288T>C (p.Ser96=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981073	NM_006502.3(POLH):c.297G>A (p.Val99=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966241	NM_006502.3(POLH):c.303G>A (p.Glu101=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789903	NM_006502.3(POLH):c.312T>A (p.Ser104=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1331405	NM_006502.3(POLH):c.332G>A (p.Arg111His)	POLH (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2833621	NM_006502.3(POLH):c.348G>A (p.Glu116=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734866	NM_006502.3(POLH):c.353dup (p.Tyr118Ter)	POLH (Y118*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2979390	NM_006502.3(POLH):c.354C>T (p.Tyr118=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869597	NM_006502.3(POLH):c.375A>G (p.Val125=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5889	NM_006502.3(POLH):c.376C>T (p.Gln126Ter)	POLH (Q126*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2871625	NM_006502.3(POLH):c.381_384del (p.Glu127fs)	POLH (E127fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2958999	NM_006502.3(POLH):c.385C>T (p.Leu129=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019433	NM_006502.3(POLH):c.387A>G (p.Leu129=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007234	NM_006502.3(POLH):c.387A>C (p.Leu129=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696420	NM_006502.3(POLH):c.388C>T (p.Gln130Ter)	POLH (Q130*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 911732	NM_006502.3(POLH):c.396A>G (p.Leu132=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1692931	NM_006502.3(POLH):c.413C>T (p.Ser138Leu)	POLH (S138L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2744207	NM_006502.3(POLH):c.417A>T (p.Ala139=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1692932	NM_006502.3(POLH):c.424T>C (p.Leu142=)	POLH	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum	GLikely benign
Select item 2776697	NM_006502.3(POLH):c.432C>T (p.Ser144=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734867	NM_006502.3(POLH):c.437dup (p.Tyr146Ter)	POLH (Y146*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2956711	NM_006502.3(POLH):c.438C>T (p.Tyr146=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 780623	NM_006502.3(POLH):c.447G>T (p.Gly149=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 908774	NM_006502.3(POLH):c.458G>A (p.Gly153Asp)	POLH (G153D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1692933	NM_006502.3(POLH):c.467C>T (p.Thr156Met)	POLH (T156M)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 2991099	NM_006502.3(POLH):c.468G>A (p.Thr156=)	POLH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 561181	NM_006502.3(POLH):c.490+1del	POLH	Deletion (splice donor variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 225444	NM_006502.3(POLH):c.490G>T (p.Glu164Ter)	POLH (E164*)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum +2 more	GPathogenic/Likely pathogenic
Select item 2504027	NM_006502.3(POLH):c.490+3A>G	POLH	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2806491	NM_006502.3(POLH):c.490+7C>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721480	NM_006502.3(POLH):c.490+9A>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987529	NM_006502.3(POLH):c.490+12G>A	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966466	NM_006502.3(POLH):c.490+17A>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767060	NM_006502.3(POLH):c.490+20C>A	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737746	NM_006502.3(POLH):c.491-17T>C	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694046	NM_006502.3(POLH):c.491-8C>G	POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356899	NM_006502.3(POLH):c.491-4T>G	POLH	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2783343	NM_006502.3(POLH):c.495G>C (p.Gly165=)	POLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734868	NM_006502.3(POLH):c.499C>T (p.Arg167Ter)	POLH (R167* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 520989	NM_006502.3(POLH):c.512del (p.Leu171fs)	POLH (L171fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 908775	NM_006502.3(POLH):c.525C>T (p.Leu175=)	POLH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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