POLR1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 58875	GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	IMMT, LOC106783498 +22 more	Copy number gain	See cases	GUncertain significance
Select item 2062766	NM_015425.6(POLR1A):c.5152C>G (p.Pro1718Ala)	POLR1A (P1718A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062174	NM_015425.6(POLR1A):c.5140G>A (p.Glu1714Lys)	POLR1A (E1714K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080229	NM_015425.6(POLR1A):c.5139C>T (p.Phe1713=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794351	NM_015425.6(POLR1A):c.5125G>A (p.Gly1709Arg)	POLR1A (G1709R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665368	NM_015425.6(POLR1A):c.5115C>T (p.Val1705=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369863	NM_015425.6(POLR1A):c.5104G>A (p.Val1702Ile)	POLR1A (V1702I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1662380	NM_015425.6(POLR1A):c.5079G>C (p.Leu1693=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999063	NM_015425.6(POLR1A):c.5076G>C (p.Glu1692Asp)	POLR1A (E1692D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899658	NM_015425.6(POLR1A):c.5070C>T (p.His1690=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438418	NM_015425.6(POLR1A):c.5063G>A (p.Gly1688Glu)	POLR1A (G1688E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904732	NM_015425.6(POLR1A):c.5063-5G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807728	NM_015425.6(POLR1A):c.5063-6T>C	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900283	NM_015425.6(POLR1A):c.5063-13G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2985522	NM_015425.6(POLR1A):c.5062+14C>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665434	NM_015425.6(POLR1A):c.5062+9G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907242	NM_015425.6(POLR1A):c.5062+8C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1450868	NM_015425.6(POLR1A):c.5062+6T>C	POLR1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1568519	NM_015425.6(POLR1A):c.5055C>T (p.Thr1685=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741340	NM_015425.6(POLR1A):c.5046G>A (p.Lys1682=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956494	NM_015425.6(POLR1A):c.5027C>T (p.Thr1676Ile)	POLR1A (T1676I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980000	NM_015425.6(POLR1A):c.5001C>G (p.Ser1667=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785970	NM_015425.6(POLR1A):c.4989G>A (p.Arg1663=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1897712	NM_015425.6(POLR1A):c.4988G>A (p.Arg1663Gln)	POLR1A (R1663Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216439	NM_015425.6(POLR1A):c.4987C>T (p.Arg1663Trp)	POLR1A (R1663W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506712	NM_015425.6(POLR1A):c.4975C>T (p.Arg1659Cys)	POLR1A (R1659C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012949	NM_015425.6(POLR1A):c.4963A>G (p.Lys1655Glu)	POLR1A (K1655E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216438	NM_015425.6(POLR1A):c.4957G>A (p.Val1653Ile)	POLR1A (V1653I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1638892	NM_015425.6(POLR1A):c.4947C>T (p.Cys1649=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347172	NM_015425.6(POLR1A):c.4945T>C (p.Cys1649Arg)	POLR1A (C1649R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2224359	NM_015425.6(POLR1A):c.4916G>A (p.Arg1639His)	POLR1A (R1639H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1663384	NM_015425.6(POLR1A):c.4909G>A (p.Asp1637Asn)	POLR1A (D1637N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1571564	NM_015425.6(POLR1A):c.4908C>T (p.Val1636=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785971	NM_015425.6(POLR1A):c.4905G>A (p.Ala1635=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1898479	NM_015425.6(POLR1A):c.4902C>T (p.Ile1634=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957188	NM_015425.6(POLR1A):c.4898-9G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002257	NM_015425.6(POLR1A):c.4897+17G>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896212	NM_015425.6(POLR1A):c.4897+11C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004389	NM_015425.6(POLR1A):c.4896T>C (p.Tyr1632=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1408348	NM_015425.6(POLR1A):c.4891G>A (p.Val1631Met)	POLR1A (V1631M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165193	NM_015425.6(POLR1A):c.4890C>T (p.Ala1630=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2820711	NM_015425.6(POLR1A):c.4875C>T (p.Ile1625=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662408	NM_015425.6(POLR1A):c.4863C>T (p.Ile1621=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721109	NM_015425.6(POLR1A):c.4861A>G (p.Ile1621Val)	POLR1A (I1621V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875323	NM_015425.6(POLR1A):c.4860G>T (p.Val1620=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368374	NM_015425.6(POLR1A):c.4856G>A (p.Arg1619Gln)	POLR1A (R1619Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475798	NM_015425.6(POLR1A):c.4855C>T (p.Arg1619Trp)	POLR1A (R1619W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1533592	NM_015425.6(POLR1A):c.4851G>A (p.Ala1617=)	POLR1A	Single nucleotide variant (synonymous variant)	POLR1A-related disorder +1 more	GLikely benign
Select item 2420277	NM_015425.6(POLR1A):c.4850C>G (p.Ala1617Gly)	POLR1A (A1617G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915371	NM_015425.6(POLR1A):c.4849G>A (p.Ala1617Thr)	POLR1A (A1617T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 770129	NM_015425.6(POLR1A):c.4848C>T (p.Ala1616=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1532201	NM_015425.6(POLR1A):c.4833G>A (p.Thr1611=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012950	NM_015425.6(POLR1A):c.4832C>T (p.Thr1611Met)	POLR1A (T1611M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178441	NM_015425.6(POLR1A):c.4825G>T (p.Ala1609Ser)	POLR1A (A1609S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 786860	NM_015425.6(POLR1A):c.4824A>G (p.Ile1608Met)	POLR1A (I1608M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1476664	NM_015425.6(POLR1A):c.4822A>G (p.Ile1608Val)	POLR1A (I1608V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016286	NM_015425.6(POLR1A):c.4819G>T (p.Ala1607Ser)	POLR1A (A1607S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429701	NM_015425.6(POLR1A):c.4819G>A (p.Ala1607Thr)	POLR1A (A1607T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928323	NM_015425.6(POLR1A):c.4818C>T (p.His1606=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906361	NM_015425.6(POLR1A):c.4809C>T (p.Asn1603=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105313	NM_015425.6(POLR1A):c.4803C>T (p.Tyr1601=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216437	NM_015425.6(POLR1A):c.4798C>T (p.Leu1600Phe)	POLR1A (L1600F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3021218	NM_015425.6(POLR1A):c.4795C>T (p.Arg1599Cys)	POLR1A (R1599C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981155	NM_015425.6(POLR1A):c.4793G>A (p.Arg1598His)	POLR1A (R1598H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159931	NM_015425.6(POLR1A):c.4780-8C>G	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902859	NM_015425.6(POLR1A):c.4780-10C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669786	NM_015425.6(POLR1A):c.4780-14C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907432	NM_015425.6(POLR1A):c.4779+16_4779+19del	POLR1A	Deletion (intron variant)	not provided	GLikely benign
Select item 1907433	NM_015425.6(POLR1A):c.4779+15C>G	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951068	NM_015425.6(POLR1A):c.4764A>G (p.Leu1588=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501499	NM_015425.6(POLR1A):c.4747A>T (p.Ile1583Phe)	POLR1A (I1583F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580372	NM_015425.6(POLR1A):c.4743A>G (p.Glu1581=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168789	NM_015425.6(POLR1A):c.4738A>T (p.Thr1580Ser)	POLR1A (T1580S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3216436	NM_015425.6(POLR1A):c.4717G>A (p.Glu1573Lys)	POLR1A (E1573K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1427475	NM_015425.6(POLR1A):c.4716C>G (p.Asn1572Lys)	POLR1A (N1572K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 715496	NM_015425.6(POLR1A):c.4716C>T (p.Asn1572=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132776	NM_015425.6(POLR1A):c.4707C>T (p.Asn1569=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905147	NM_015425.6(POLR1A):c.4700C>T (p.Thr1567Ile)	POLR1A (T1567I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662381	NM_015425.6(POLR1A):c.4689C>T (p.Leu1563=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 421393	NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe)	POLR1A (C1562F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1931585	NM_015425.6(POLR1A):c.4682G>A (p.Arg1561Gln)	POLR1A (R1561Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472422	NM_015425.6(POLR1A):c.4681C>T (p.Arg1561Trp)	POLR1A (R1561W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932458	NM_015425.6(POLR1A):c.4664C>T (p.Ala1555Val)	POLR1A (A1555V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414101	NM_015425.6(POLR1A):c.4661A>G (p.Tyr1554Cys)	POLR1A (Y1554C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348660	NM_015425.6(POLR1A):c.4654G>A (p.Val1552Ile)	POLR1A (V1552I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987429	NM_015425.6(POLR1A):c.4653C>T (p.Ala1551=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003671	NM_015425.6(POLR1A):c.4646A>C (p.His1549Pro)	POLR1A (H1549P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716331	NM_015425.6(POLR1A):c.4645C>T (p.His1549Tyr)	POLR1A (H1549Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123333	NM_015425.6(POLR1A):c.4637C>T (p.Ser1546Phe)	POLR1A (S1546F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467350	NM_015425.6(POLR1A):c.4618A>G (p.Met1540Val)	POLR1A (M1540V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473622	NM_015425.6(POLR1A):c.4611C>G (p.Asn1537Lys)	POLR1A (N1537K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906376	NM_015425.6(POLR1A):c.4579G>C (p.Val1527Leu)	POLR1A (V1527L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632527	NM_015425.6(POLR1A):c.4579-7T>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1575583	NM_015425.6(POLR1A):c.4579-18C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231077	NM_015425.6(POLR1A):c.4579-148A>G	POLR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3010473	NM_015425.6(POLR1A):c.4578+20C>A	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945073	NM_015425.6(POLR1A):c.4578+12C>T	POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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