ClinVar for MedGen (Select 376352) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2734868	NM_006502.3(POLH):c.499C>T (p.Arg167Ter)	POLR1C, POLH (R167* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2682158	NM_006502.3(POLH):c.571A>C (p.Thr191Pro)	POLH, POLR1C (T191P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2435152	NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)	POLH, POLR1C (L414P +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type +1 more	GConflicting classifications of pathogenicity
Select item 2431387	NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)	POLH, POLR1C (T284fs +1 more)	Deletion (frameshift variant +1 more)	POLH-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1686085	NM_006502.3(POLH):c.638C>G (p.Ser213Ter)	POLH, POLR1C (S213* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum variant type +1 more	GPathogenic/Likely pathogenic
Select item 1459259	NM_006502.3(POLH):c.1066C>T (p.Arg356Ter)	POLH, POLR1C (R356* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum variant type +1 more	GPathogenic
Select item 1333587	NM_006502.3(POLH):c.1561C>T (p.Gln521Ter)	POLH, POLR1C (Q397* +1 more)	Single nucleotide variant (nonsense +2 more)	Xeroderma pigmentosum variant type	GLikely pathogenic
Select item 1119983	NM_006502.3(POLH):c.672_673insT (p.Leu225fs)	POLH, POLR1C (L101fs +1 more)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 912000	NM_006502.3(POLH):c.*4208G>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911950	NM_006502.3(POLH):c.*3318G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GBenign
Select item 911949	NM_006502.3(POLH):c.*3250G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GLikely benign
Select item 911948	NM_006502.3(POLH):c.*3022A>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911901	NM_006502.3(POLH):c.*1925G>A	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911840	NM_006502.3(POLH):c.*884G>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911839	NM_006502.3(POLH):c.*720T>C	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911796	NM_006502.3(POLH):c.1572A>C (p.Gln524His)	POLH, POLR1C (Q400H +1 more)	Single nucleotide variant (missense variant +1 more)	POLH-related condition +3 more	GLikely benign
Select item 911795	NM_006502.3(POLH):c.1568G>T (p.Ser523Ile)	POLH, POLR1C (S523I +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911732	NM_006502.3(POLH):c.396A>G (p.Leu132=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911731	NM_006502.3(POLH):c.341T>C (p.Ile114Thr)	POLH, POLR1C (I114T)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911730	NM_006502.3(POLH):c.272+4A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911729	NM_006502.3(POLH):c.251G>A (p.Arg84His)	POLH, POLR1C (R84H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911728	NM_006502.3(POLH):c.248C>T (p.Ser83Phe)	POLH, POLR1C (P32S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 911727	NM_006502.3(POLH):c.229C>T (p.Leu77=)	POLH, POLR1C	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum variant type +1 more	GConflicting classifications of pathogenicity
Select item 911726	NM_006502.3(POLH):c.189G>C (p.Met63Ile)	POLR1C, POLH (M63I +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910836	NM_006502.3(POLH):c.*5934G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GBenign
Select item 910835	NM_006502.3(POLH):c.*5933T>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GBenign
Select item 910834	NM_006502.3(POLH):c.*5786G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910833	NM_006502.3(POLH):c.*5731C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910788	NM_006502.3(POLH):c.*4160G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910787	NM_006502.3(POLH):c.*4159C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910786	NM_006502.3(POLH):c.*4143G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910785	NM_006502.3(POLH):c.*3855A>G	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910784	NM_006502.3(POLH):c.*3842G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910783	NM_006502.3(POLH):c.*3828C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910730	NM_006502.3(POLH):c.*2844G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910729	NM_006502.3(POLH):c.*2814A>G	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910728	NM_006502.3(POLH):c.*2573C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910669	NM_006502.3(POLH):c.*1778T>C	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910668	NM_006502.3(POLH):c.*1679C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GBenign
Select item 910667	NM_006502.3(POLH):c.*1594G>T	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910619	NM_006502.3(POLH):c.*599T>C	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910618	NM_006502.3(POLH):c.*546T>G	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GLikely benign
Select item 910559	NM_006502.3(POLH):c.1406C>T (p.Ala469Val)	POLH, POLR1C (A469V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 910558	NM_006502.3(POLH):c.1299C>A (p.Ala433=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 910557	NM_006502.3(POLH):c.1163C>A (p.Thr388Asn)	POLH, POLR1C (T264N +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type +2 more	GUncertain significance
Select item 910500	NM_006502.3(POLH):c.34G>C (p.Val12Leu)	POLH, POLR1C (V12L)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910499	NM_006502.3(POLH):c.25G>T (p.Val9Phe)	POLH, POLR1C (V9F)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910498	NM_006502.3(POLH):c.7A>G (p.Thr3Ala)	POLR1C, POLH (T3A)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 910497	NM_006502.3(POLH):c.-94A>G	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909937	NM_006502.3(POLH):c.*5164T>C	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909936	NM_006502.3(POLH):c.*5140C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909935	NM_006502.3(POLH):c.*5020G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909884	NM_006502.3(POLH):c.*3724G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909883	NM_006502.3(POLH):c.*3684C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909833	NM_006502.3(POLH):c.*2568G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909832	NM_006502.3(POLH):c.*2537G>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909831	NM_006502.3(POLH):c.*2499G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GBenign
Select item 909830	NM_006502.3(POLH):c.*2454G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909829	NM_006502.3(POLH):c.*2423A>G	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909757	NM_006502.3(POLH):c.*1547G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909756	NM_006502.3(POLH):c.*1535C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909755	NM_006502.3(POLH):c.*1528G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909754	NM_006502.3(POLH):c.*1346C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909753	NM_006502.3(POLH):c.*1336G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GLikely benign
Select item 909693	NM_006502.3(POLH):c.*429G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GBenign
Select item 909692	NM_006502.3(POLH):c.*408T>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909691	NM_006502.3(POLH):c.*281T>G	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909690	NM_006502.3(POLH):c.*181C>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909689	NM_006502.3(POLH):c.*31A>G	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909633	NM_006502.3(POLH):c.1000C>T (p.Arg334Trp)	POLH, POLR1C (R210W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909632	NM_006502.3(POLH):c.815T>C (p.Ile272Thr)	POLH, POLR1C (I272T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type +2 more	GConflicting classifications of pathogenicity
Select item 909631	NM_006502.3(POLH):c.791C>T (p.Ala264Val)	POLH, POLR1C (A264V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type +1 more	GUncertain significance
Select item 909569	NM_006502.3(POLH):c.-252G>C	POLH, POLR1C	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909086	NM_006502.3(POLH):c.*4959T>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GLikely benign
Select item 909085	NM_006502.3(POLH):c.*4857G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909084	NM_006502.3(POLH):c.*4845T>C	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909083	NM_006502.3(POLH):c.*4791G>C	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909082	NM_006502.3(POLH):c.*4785G>C	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909081	NM_006502.3(POLH):c.*4768G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909024	NM_006502.3(POLH):c.*3631G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909023	NM_006502.3(POLH):c.*3630C>T	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909022	NM_006502.3(POLH):c.*3611T>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GBenign
Select item 909021	NM_006502.3(POLH):c.*3608A>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 909020	NM_006502.3(POLH):c.*3472A>G	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GBenign
Select item 908962	NM_006502.3(POLH):c.*2289T>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 908961	NM_006502.3(POLH):c.*2094T>G	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 908892	NM_006502.3(POLH):c.*1156G>A	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GLikely benign
Select item 908836	NM_006502.3(POLH):c.*2G>T	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 908835	NM_006502.3(POLH):c.2091G>A (p.Arg697=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 908834	NM_006502.3(POLH):c.2031A>T (p.Val677=)	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908833	NM_006502.3(POLH):c.1953G>A (p.Met651Ile)	POLH, POLR1C (M527I +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 908776	NM_006502.3(POLH):c.709C>G (p.Leu237Val)	POLH, POLR1C (L237V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 908775	NM_006502.3(POLH):c.525C>T (p.Leu175=)	POLH, POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908774	NM_006502.3(POLH):c.458G>A (p.Gly153Asp)	POLH, POLR1C (G153D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 908773	NM_006502.3(POLH):c.409A>G (p.Ile137Val)	POLH, POLR1C (I137V)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 870901	NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)	POLH, POLR1C (T568A +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type +2 more	GConflicting classifications of pathogenicity
Select item 787831	NM_006502.3(POLH):c.1751T>C (p.Leu584Pro)	POLH, POLR1C (L584P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 749045	NM_006502.3(POLH):c.1473G>A (p.Gln491=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 717328	NM_006502.3(POLH):c.1433C>T (p.Thr478Met)	POLR1C, POLH (T354M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 631984	NM_006502.3(POLH):c.149dup (p.Ser51fs)	POLH, POLR1C (S51fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic

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