Related gene-specific medical variations for Gene (Select 25885) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054505	NM_015425.6(POLR1A):c.3810C>T (p.Asn1270=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	POLR1A-related disorder	GLikely benign
Select item 3023313	NM_015425.6(POLR1A):c.3805C>T (p.Leu1269Phe)	LOC106783498, POLR1A (L1269F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022942	NM_015425.6(POLR1A):c.2872G>A (p.Gly958Ser)	LOC126806263, POLR1A (G958S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011121	NM_015425.6(POLR1A):c.3796G>A (p.Val1266Met)	POLR1A, LOC106783498 (V1266M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009731	NM_015425.6(POLR1A):c.2969+16C>T	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996408	NM_015425.6(POLR1A):c.2879A>G (p.Lys960Arg)	LOC126806263, POLR1A (K960R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978769	NM_015425.6(POLR1A):c.1866+7C>G	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976433	NM_015425.6(POLR1A):c.3767G>C (p.Ser1256Thr)	LOC106783498, POLR1A (S1256T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969435	NM_015425.6(POLR1A):c.1612-12C>T	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967338	NM_015425.6(POLR1A):c.52G>C (p.Gly18Arg)	LOC129934243, POLR1A (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963842	NM_015425.6(POLR1A):c.2969+17G>A	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901173	NM_015425.6(POLR1A):c.3757A>G (p.Met1253Val)	LOC106783498, POLR1A (M1253V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871800	NM_015425.6(POLR1A):c.3850C>G (p.Gln1284Glu)	LOC106783498, POLR1A (Q1284E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865102	NM_015425.6(POLR1A):c.1842T>C (p.Thr614=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780890	NM_015425.6(POLR1A):c.1866+18G>C	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778591	NM_015425.6(POLR1A):c.1616G>A (p.Cys539Tyr)	LOC126806264, POLR1A (C539Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750329	NM_015425.6(POLR1A):c.3824T>C (p.Leu1275Pro)	LOC106783498, POLR1A (L1275P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723476	NM_015425.6(POLR1A):c.1814G>A (p.Arg605Gln)	LOC126806264, POLR1A (R605Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722555	NM_015425.6(POLR1A):c.3795C>T (p.Ser1265=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694222	NM_015425.6(POLR1A):c.1725G>A (p.Leu575=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591820	NM_015425.6(POLR1A):c.2780C>T (p.Pro927Leu)	LOC126806263, POLR1A (P927L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435154	NM_015425.6(POLR1A):c.4501C>T (p.Arg1501Trp)	POLR1A (R1501W)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 2435153	NM_015425.6(POLR1A):c.1846C>T (p.Gln616Ter)	POLR1A, LOC126806264 (Q616*)	Single nucleotide variant (nonsense)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 2431838	NM_015425.6(POLR1A):c.1612-3dup	LOC126806264, POLR1A	Duplication (intron variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 2420526	NM_015425.6(POLR1A):c.3769G>A (p.Ala1257Thr)	LOC106783498, POLR1A (A1257T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2341726	NM_015425.6(POLR1A):c.3795C>A (p.Ser1265Arg)	LOC106783498, POLR1A (S1265R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2132117	NM_015425.6(POLR1A):c.1842T>G (p.Thr614=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123285	NM_015425.6(POLR1A):c.1689C>T (p.Ala563=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120655	NM_015425.6(POLR1A):c.1797C>T (p.Pro599=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110550	NM_015425.6(POLR1A):c.63G>T (p.Ser21=)	LOC129934243, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080993	NM_015425.6(POLR1A):c.1702A>G (p.Ile568Val)	LOC126806264, POLR1A (I568V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080690	NM_015425.6(POLR1A):c.1612-5C>G	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077932	NM_015425.6(POLR1A):c.1818C>T (p.Ala606=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065987	NM_015425.6(POLR1A):c.73C>G (p.Leu25Val)	LOC129934243, POLR1A (L25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016526	NM_015425.6(POLR1A):c.2969+15C>T	POLR1A, LOC126806263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015067	NM_015425.6(POLR1A):c.1653C>T (p.Asn551=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995759	NM_015425.6(POLR1A):c.3767G>A (p.Ser1256Asn)	LOC106783498, POLR1A (S1256N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984167	NM_015425.6(POLR1A):c.1619G>A (p.Arg540Gln)	LOC126806264, POLR1A (R540Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978580	NM_015425.6(POLR1A):c.77A>G (p.Lys26Arg)	LOC129934243, POLR1A (K26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978265	NM_015425.6(POLR1A):c.2771G>A (p.Arg924Gln)	LOC126806263, POLR1A (R924Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974094	NM_015425.6(POLR1A):c.3862G>T (p.Val1288Leu)	LOC106783498, POLR1A (V1288L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968655	NM_015425.6(POLR1A):c.2969+10A>G	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966702	NM_015425.6(POLR1A):c.1612-18T>C	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961676	NM_015425.6(POLR1A):c.2745G>C (p.Leu915=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960385	NM_015425.6(POLR1A):c.2780C>A (p.Pro927Gln)	LOC126806263, POLR1A (P927Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959863	NM_015425.6(POLR1A):c.2886+11T>C	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959729	NM_015425.6(POLR1A):c.2819C>T (p.Pro940Leu)	LOC126806263, POLR1A (P940L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1956995	NM_015425.6(POLR1A):c.2961T>C (p.Tyr987=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933069	NM_015425.6(POLR1A):c.3862G>A (p.Val1288Met)	LOC106783498, POLR1A (V1288M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921555	NM_015425.6(POLR1A):c.2736C>T (p.Ile912=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908749	NM_015425.6(POLR1A):c.2781G>T (p.Pro927=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904876	NM_015425.6(POLR1A):c.2884C>T (p.Pro962Ser)	LOC126806263, POLR1A (P962S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718978	NM_015425.6(POLR1A):c.41G>C (p.Gly14Ala)	LOC129934243, POLR1A (G14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668696	NM_015425.6(POLR1A):c.1824C>A (p.Ala608=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668659	NM_015425.6(POLR1A):c.2887-14C>T	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667553	NM_015425.6(POLR1A):c.1866+18_1866+19insTCAT	LOC126806264, POLR1A	Insertion (intron variant)	not provided	GLikely benign
Select item 1639281	NM_015425.6(POLR1A):c.48C>T (p.Ser16=)	LOC129934243, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633225	NM_015425.6(POLR1A):c.3801C>T (p.Pro1267=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624784	NM_015425.6(POLR1A):c.1866+16_1866+17del	LOC126806264, POLR1A	Deletion (intron variant)	not provided	GLikely benign
Select item 1612051	NM_015425.6(POLR1A):c.2790G>A (p.Ala930=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1611848	NM_015425.6(POLR1A):c.1836C>A (p.Ala612=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608365	NM_015425.6(POLR1A):c.3855C>A (p.Leu1285=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604721	NM_015425.6(POLR1A):c.3768C>T (p.Ser1256=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591925	NM_015425.6(POLR1A):c.2781G>A (p.Pro927=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591707	NM_015425.6(POLR1A):c.2871C>T (p.Thr957=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572332	NM_015425.6(POLR1A):c.1761C>T (p.Ala587=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1567885	NM_015425.6(POLR1A):c.2734-6C>T	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539196	NM_015425.6(POLR1A):c.2969+16C>A	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536652	NM_015425.6(POLR1A):c.2887-11A>G	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531937	NM_015425.6(POLR1A):c.33G>A (p.Arg11=)	LOC129934243, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493858	NM_015425.6(POLR1A):c.11C>A (p.Ser4Tyr)	LOC129934243, POLR1A (S4Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484430	NM_015425.6(POLR1A):c.1700G>A (p.Arg567His)	LOC126806264, POLR1A (R567H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471789	NM_015425.6(POLR1A):c.2890TTC[2] (p.Phe966del)	LOC126806263, POLR1A (F966del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1468851	NM_015425.6(POLR1A):c.17A>G (p.Asn6Ser)	LOC129934243, POLR1A (N6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423161	NM_015425.6(POLR1A):c.2770C>T (p.Arg924Trp)	LOC126806263, POLR1A (R924W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410443	NM_015425.6(POLR1A):c.1828G>A (p.Val610Ile)	LOC126806264, POLR1A (V610I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380663	NM_015425.6(POLR1A):c.1639A>G (p.Ile547Val)	LOC126806264, POLR1A (I547V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1375677	NM_015425.6(POLR1A):c.2969+1G>A	LOC126806263, POLR1A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1367286	NM_015425.6(POLR1A):c.3871G>A (p.Gly1291Arg)	LOC106783498, POLR1A (G1291R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314963	NM_015425.6(POLR1A):c.1811del (p.Gly604fs)	LOC126806264, POLR1A (G604fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1302986	NM_015425.6(POLR1A):c.1736A>G (p.Tyr579Cys)	LOC126806264, POLR1A (Y579C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302727	NM_015425.6(POLR1A):c.2767G>A (p.Gly923Ser)	POLR1A, LOC126806263 (G923S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174453	NM_015425.6(POLR1A):c.2734-224A>G	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167923	NM_015425.6(POLR1A):c.2868C>T (p.Leu956=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 980432	GRCh37/hg19 2p11.2(chr2:86134228-86331175)x1	POLR1A	Copy number loss	not provided	GUncertain significance
Select item 769566	NM_015425.6(POLR1A):c.1728G>A (p.Arg576=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764734	NM_015425.6(POLR1A):c.1827C>T (p.Tyr609=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761851	NM_015425.6(POLR1A):c.42C>G (p.Gly14=)	LOC129934243, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744974	NM_015425.6(POLR1A):c.1866+3A>G	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727530	NM_015425.6(POLR1A):c.3843G>T (p.Leu1281=)	LOC106783498, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727137	NM_015425.6(POLR1A):c.2739G>A (p.Ser913=)	LOC126806263, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721375	NM_015425.6(POLR1A):c.1612-5C>T	LOC126806264, POLR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714612	NM_015425.6(POLR1A):c.1821G>A (p.Glu607=)	LOC126806264, POLR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 546866	NM_015425.6(POLR1A):c.2969+8G>A	LOC126806263, POLR1A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 203463	NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln)	LOC126806264, POLR1A (E593Q)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GPathogenic

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Items: 95