5429[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 149124	GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	GTPBP2, LOC121132685 +27 more	Copy number gain	See cases	GUncertain significance
Select item 356883	NM_006502.2(POLH):c.-288C>T	LOC129996520, POLH +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	LOC129996520, POLH +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	LOC129996521, POLH +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	LOC129996521, 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)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 1313195	NM_006502.3(POLH):c.-4-3C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 631983	NM_006502.3(POLH):c.-4-1G>C	POLH, POLR1C	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum variant type +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 2876786	NM_006502.3(POLH):c.9T>G (p.Thr3=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826404	NM_006502.3(POLH):c.24G>A (p.Val8=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798060	NM_006502.3(POLH):c.24G>T (p.Val8=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2991073	NM_006502.3(POLH):c.33C>T (p.Leu11=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2865714	NM_006502.3(POLH):c.54del (p.Phe18fs)	POLH, POLR1C (F18fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 5885	NM_006502.3(POLH):c.54_57del (p.Val19fs)	POLH, POLR1C (V19fs)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type	GPathogenic
Select item 2963634	NM_006502.3(POLH):c.88A>C (p.Arg30=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2792428	NM_006502.3(POLH):c.102T>C (p.Cys34=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737975	NM_006502.3(POLH):c.104C>T (p.Ala35Val)	POLH, POLR1C (A35V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5884	NM_006502.3(POLH):c.106_118del (p.Val36fs)	POLH, POLR1C (V36fs)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type	GPathogenic
Select item 1692919	NM_006502.3(POLH):c.112C>G (p.Gln38Glu)	POLH, POLR1C (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, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800522	NM_006502.3(POLH):c.120A>G (p.Lys40=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1692921	NM_006502.3(POLH):c.134G>A (p.Gly45Asp)	POLH, POLR1C (G45D)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 2980232	NM_006502.3(POLH):c.137+11T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871454	NM_006502.3(POLH):c.137+13G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020702	NM_006502.3(POLH):c.137+16A>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225992	NM_006502.3(POLH):c.137+72GTG[8]	POLH, POLR1C	Microsatellite (intron variant)	not provided	GBenign
Select item 1203127	NM_006502.3(POLH):c.137+71T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293861	NM_006502.3(POLH):c.137+275G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186628	NM_006502.3(POLH):c.138-205C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274970	NM_006502.3(POLH):c.138-186G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2979376	NM_006502.3(POLH):c.138-11dup	POLH, POLR1C	Duplication (intron variant)	not provided	GBenign
Select item 2974214	NM_006502.3(POLH):c.138-11del	POLH, POLR1C	Deletion (intron variant)	not provided	GBenign
Select item 2873376	NM_006502.3(POLH):c.138-18T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703196	NM_006502.3(POLH):c.138-12T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000806	NM_006502.3(POLH):c.138-11T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703474	NM_006502.3(POLH):c.138-10C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3216338	NM_006502.3(POLH):c.146C>T (p.Ala49Val)	POLH, POLR1C (A49V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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 2897260	NM_006502.3(POLH):c.156T>C (p.Tyr52=)	POLH, POLR1C (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2979591	NM_006502.3(POLH):c.165T>C (p.Arg55=)	POLH, POLR1C (V4A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3006014	NM_006502.3(POLH):c.168A>T (p.Ala56=)	POLH, POLR1C (H5L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2843987	NM_006502.3(POLH):c.168A>G (p.Ala56=)	POLH, POLR1C (H5R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 2756379	NM_006502.3(POLH):c.202dup (p.Ala68fs)	POLH, POLR1C (A68fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 5892	NM_006502.3(POLH):c.207del (p.Lys70fs)	POLH, POLR1C (K70fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type	GPathogenic
Select item 2863997	NM_006502.3(POLH):c.210G>A (p.Lys70=)	POLH, POLR1C (S19N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1692929	NM_006502.3(POLH):c.210G>T (p.Lys70Asn)	POLH, POLR1C (K70N +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 5893	NM_006502.3(POLH):c.222TCT[1] (p.Leu77del)	POLR1C, POLH (L77del +1 more)	Microsatellite (inframe_deletion)	Xeroderma pigmentosum variant type	GPathogenic
Select item 2873451	NM_006502.3(POLH):c.228A>G (p.Leu76=)	POLH, POLR1C (Y25C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 2868347	NM_006502.3(POLH):c.267C>A (p.Leu89=)	POLH, POLR1C (S38*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2017400	NM_006502.3(POLH):c.272+1G>C	POLH, POLR1C	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
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 2987539	NM_006502.3(POLH):c.272+8A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704604	NM_006502.3(POLH):c.272+9A>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985273	NM_006502.3(POLH):c.272+11A>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988819	NM_006502.3(POLH):c.272+18_272+21del	POLH, POLR1C	Deletion (intron variant)	not provided	GLikely benign
Select item 1293882	NM_006502.3(POLH):c.273-175T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222307	NM_006502.3(POLH):c.273-32T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2776164	NM_006502.3(POLH):c.273-10T>C	POLR1C, POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706401	NM_006502.3(POLH):c.273-10T>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704342	NM_006502.3(POLH):c.273-9A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844483	NM_006502.3(POLH):c.273-8C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866192	NM_006502.3(POLH):c.273-7T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020508	NM_006502.3(POLH):c.273-5C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737775	NM_006502.3(POLH):c.288T>C (p.Ser96=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981073	NM_006502.3(POLH):c.297G>A (p.Val99=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966241	NM_006502.3(POLH):c.303G>A (p.Glu101=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789903	NM_006502.3(POLH):c.312T>A (p.Ser104=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1331405	NM_006502.3(POLH):c.332G>A (p.Arg111His)	POLH, POLR1C (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	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 2833621	NM_006502.3(POLH):c.348G>A (p.Glu116=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734866	NM_006502.3(POLH):c.353dup (p.Tyr118Ter)	POLH, POLR1C (Y118*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2979390	NM_006502.3(POLH):c.354C>T (p.Tyr118=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869597	NM_006502.3(POLH):c.375A>G (p.Val125=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5889	NM_006502.3(POLH):c.376C>T (p.Gln126Ter)	POLH, POLR1C (Q126*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2871625	NM_006502.3(POLH):c.381_384del (p.Glu127fs)	POLH, POLR1C (E127fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2958999	NM_006502.3(POLH):c.385C>T (p.Leu129=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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