"Illumina Laboratory Services, Illumina"[submitter] AND "POLR1C"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356866	NM_203290.3(POLR1C):c.-63C>A	LOC129996517, POLR1C	Single nucleotide variant	Treacher Collins Syndrome, Recessive	GUncertain significance
Select item 356867	NM_203290.4(POLR1C):c.-21A>G	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 909505	NM_203290.4(POLR1C):c.-15G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 909506	NM_203290.4(POLR1C):c.-8G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	POLR1C-related condition +1 more	GConflicting classifications of pathogenicity
Select item 356868	NM_203290.4(POLR1C):c.-4G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	POLR1C-related condition +3 more	GConflicting classifications of pathogenicity
Select item 909507	NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)	LOC129996517, POLR1C (S12G)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356869	NM_203290.4(POLR1C):c.68A>G (p.Asn23Ser)	LOC129996517, POLR1C (N23S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356870	NM_203290.4(POLR1C):c.70-7G>C	POLR1C	Single nucleotide variant (intron variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 909508	NM_203290.4(POLR1C):c.70G>A (p.Val24Ile)	POLR1C (V24I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356871	NM_203290.4(POLR1C):c.138G>A (p.Glu46=)	POLR1C	Single nucleotide variant (synonymous variant)	Treacher Collins Syndrome, Recessive	GUncertain significance
Select item 356872	NM_203290.4(POLR1C):c.193A>G (p.Met65Val)	POLR1C (M65V)	Single nucleotide variant (missense variant)	POLR1C-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 356873	NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter)	POLR1C (R77*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635143	NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys)	POLR1C (R109C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GConflicting classifications of pathogenicity
Select item 910444	NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)	POLR1C (R125Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 635145	NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp)	POLR1C (G132D)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +3 more	GConflicting classifications of pathogenicity
Select item 724886	NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)	POLR1C (R141C)	Single nucleotide variant (missense variant)	POLR1C-related condition +3 more	GConflicting classifications of pathogenicity
Select item 356874	NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln)	POLR1C (R148Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 910445	NM_203290.4(POLR1C):c.480C>T (p.Asn160=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356875	NM_203290.4(POLR1C):c.489C>T (p.Tyr163=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 910446	NM_203290.4(POLR1C):c.490G>A (p.Val164Met)	POLR1C (V164M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356876	NM_203290.4(POLR1C):c.561G>A (p.Glu187=)	POLR1C	Single nucleotide variant (synonymous variant)	POLR1C-related condition +2 more	GConflicting classifications of pathogenicity
Select item 911662	NM_203290.4(POLR1C):c.585T>C (p.Asp195=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356877	NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr)	POLR1C (A200T)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +1 more	GUncertain significance
Select item 356878	NM_203290.4(POLR1C):c.634A>G (p.Met212Val)	POLR1C (M212V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 911663	NM_203290.4(POLR1C):c.639C>G (p.His213Gln)	POLR1C (H213Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356879	NM_203290.4(POLR1C):c.656-9C>T	POLR1C	Single nucleotide variant (intron variant)	Treacher Collins syndrome 3 +1 more	GBenign
Select item 761748	NM_203290.4(POLR1C):c.771C>T (p.Phe257=)	POLR1C	Single nucleotide variant (synonymous variant)	POLR1C-related condition +2 more	GConflicting classifications of pathogenicity
Select item 356880	NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile)	POLR1C (K270I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 30811	NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	POLR1C (R279Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 911664	NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser)	POLR1C (T282S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 356881	NM_203290.4(POLR1C):c.913C>A (p.His305Asn)	POLR1C (H305N)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 635152	NM_203290.4(POLR1C):c.938C>T (p.Thr313Met)	POLR1C (T313M)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 11 +2 more	GConflicting classifications of pathogenicity
Select item 356882	NM_203290.4(POLR1C):c.*30T>C	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908713	NM_203290.4(POLR1C):c.*105G>C	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Treacher Collins syndrome 3	GUncertain significance
Select item 908714	NM_203290.4(POLR1C):c.*166C>T	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Treacher Collins syndrome 3	GUncertain significance
Select item 356883	NM_006502.2(POLH):c.-288C>T	POLH, POLR1C +1 more	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356884	NM_006502.2(POLH):c.-285C>A	LOC129996520, POLH +1 more	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356885	NM_006502.2(POLH):c.-282A>G	LOC129996520, POLH +1 more	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356886	NM_006502.2(POLH):c.-274C>A	POLR1C, LOC129996520 +1 more	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type	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 356887	NM_006502.3(POLH):c.-242C>G	POLH, POLR1C	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356888	NM_006502.3(POLH):c.-239G>T	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356889	NM_006502.3(POLH):c.-232C>A	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356890	NM_006502.3(POLH):c.-219T>A	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356891	NM_006502.3(POLH):c.-216C>T	POLH, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356892	NM_006502.3(POLH):c.-195G>A	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356893	NM_006502.3(POLH):c.-117C>T	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GBenign
Select item 356894	NM_006502.3(POLH):c.-98A>C	LOC129996521, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GBenign
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 356895	NM_006502.3(POLH):c.-87del	LOC129996521, POLH +1 more	Deletion (5 prime UTR variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 356896	NM_006502.3(POLH):c.-62C>T	POLR1C, POLH +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356897	NM_006502.3(POLH):c.-5+3A>G	LOC129996521, POLH +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 631983	NM_006502.3(POLH):c.-4-1G>C	POLH, POLR1C	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 631984	NM_006502.3(POLH):c.149dup (p.Ser51fs)	POLH, POLR1C (S51fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 356898	NM_006502.3(POLH):c.232G>A (p.Ala78Thr)	POLH, POLR1C (A78T +1 more)	Single nucleotide variant (nonsense +2 more)	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 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 911730	NM_006502.3(POLH):c.272+4A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type	GUncertain significance
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 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 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 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 356899	NM_006502.3(POLH):c.491-4T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 259990	NM_006502.3(POLH):c.626G>T (p.Gly209Val)	POLH, POLR1C (G209V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 356900	NM_006502.3(POLH):c.660+10A>C	POLH, POLR1C	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type +1 more	GBenign
Select item 356901	NM_006502.3(POLH):c.698A>G (p.Asn233Ser)	POLH, POLR1C (N233S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 356902	NM_006502.3(POLH):c.738C>T (p.Leu246=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +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 909632	NM_006502.3(POLH):c.815T>C (p.Ile272Thr)	POLH, POLR1C (I272T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 356903	NM_006502.3(POLH):c.887C>T (p.Ser296Phe)	POLH, POLR1C (S296F +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356904	NM_006502.3(POLH):c.986C>T (p.Thr329Ile)	POLH, POLR1C (T329I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 356905	NM_006502.3(POLH):c.1074T>G (p.Asp358Glu)	POLR1C, POLH (D358E +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356906	NM_006502.3(POLH):c.1074+7T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type +1 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 356907	NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)	POLH, POLR1C (P418del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356908	NM_006502.3(POLH):c.1266T>C (p.Leu422=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 356909	NM_006502.3(POLH):c.1288T>C (p.Ser430Pro)	POLH, POLR1C (S430P +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type	GUncertain significance
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 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 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 259987	NM_006502.3(POLH):c.1434G>A (p.Thr478=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not provided +2 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 356910	NM_006502.3(POLH):c.1483G>A (p.Glu495Lys)	POLR1C, POLH (E495K +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type +1 more	GUncertain significance
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 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 5894	NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)	POLH, POLR1C (K535E +1 more)	Single nucleotide variant (missense variant +2 more)	POLH-related condition +4 more	GBenign/Likely benign
Select item 356911	NM_006502.3(POLH):c.1637A>G (p.Asn546Ser)	POLH, POLR1C (N546S +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 356912	NM_006502.3(POLH):c.1721G>A (p.Cys574Tyr)	POLH, POLR1C (C574Y +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type	GUncertain significance
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 5895	NM_006502.3(POLH):c.1766A>C (p.Lys589Thr)	POLH, POLR1C (K589T +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type	GUncertain significance
Select item 259988	NM_006502.3(POLH):c.1783A>G (p.Met595Val)	POLR1C, POLH (M595V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 356913	NM_006502.3(POLH):c.1870C>G (p.Pro624Ala)	POLH, POLR1C (P624A +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum	GUncertain significance

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