Related gene-specific medical variations for Gene (Select 5430) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369525	NM_000937.5(POLR2A):c.2635_2644del (p.Val879fs)	LOC126862481, POLR2A (V879fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3368289	NM_000937.5(POLR2A):c.4217C>T (p.Thr1406Ile)	LOC126862482, POLR2A (T1406I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360756	NM_000937.5(POLR2A):c.407A>T (p.Gln136Leu)	POLR2A (Q136L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360129	NM_000937.5(POLR2A):c.5536T>C (p.Tyr1846His)	POLR2A (Y1846H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359851	NM_000937.5(POLR2A):c.610C>T (p.His204Tyr)	POLR2A (H204Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359839	NM_000937.5(POLR2A):c.4921C>T (p.Pro1641Ser)	POLR2A (P1641S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359544	NM_000937.5(POLR2A):c.3082C>T (p.Pro1028Ser)	POLR2A (P1028S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253273	NM_000937.5(POLR2A):c.3940A>G (p.Thr1314Ala)	LOC126862482, POLR2A (T1314A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236599	NM_000937.5(POLR2A):c.430G>T (p.Val144Phe)	POLR2A (V144F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 3068077	NM_000937.5(POLR2A):c.5492G>A (p.Ser1831Asn)	POLR2A (S1831N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 3065379	NM_000937.5(POLR2A):c.575G>A (p.Arg192Gln)	POLR2A (R192Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 3065066	NM_000937.5(POLR2A):c.5132C>G (p.Pro1711Arg)	POLR2A (P1711R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 3056621	NM_000937.5(POLR2A):c.2673C>T (p.Tyr891=)	LOC126862481, POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
Select item 3025651	NM_000937.5(POLR2A):c.4101+8C>T	LOC126862482, POLR2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025434	NM_000937.5(POLR2A):c.2559G>A (p.Lys853=)	LOC126862481, POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689806	NM_000937.5(POLR2A):c.3869C>G (p.Ser1290Cys)	LOC126862482, POLR2A (S1290C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2672246	NM_000937.5(POLR2A):c.5531CTT[1] (p.Ser1845del)	POLR2A (S1845del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2672198	NM_000937.5(POLR2A):c.493G>A (p.Gly165Ser)	POLR2A (G165S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2647356	NM_000937.5(POLR2A):c.4395G>A (p.Pro1465=)	LOC126862482, POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647355	NM_000937.5(POLR2A):c.4233G>A (p.Leu1411=)	LOC126862482, POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647354	NM_000937.5(POLR2A):c.4152C>T (p.His1384=)	LOC126862482, POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647349	NM_000937.5(POLR2A):c.2350-5C>T	LOC126862481, POLR2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2634751	NM_000937.5(POLR2A):c.4175A>G (p.Tyr1392Cys)	LOC126862482, POLR2A (Y1392C)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 2629297	NM_000937.5(POLR2A):c.2723C>T (p.Thr908Met)	LOC126862481, POLR2A (T908M)	Single nucleotide variant (missense variant)	POLR2A-related disorder +1 more	GUncertain significance
Select item 2627593	NM_000937.5(POLR2A):c.4164T>G (p.Phe1388Leu)	LOC126862482, POLR2A (F1388L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2576099	NM_000937.5(POLR2A):c.2573-3C>G	LOC126862481, POLR2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2573779	NM_000937.5(POLR2A):c.4055T>C (p.Val1352Ala)	POLR2A, LOC126862482 (V1352A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572296	NM_000937.5(POLR2A):c.2458C>T (p.Arg820Cys)	LOC126862481, POLR2A (R820C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570972	NM_000937.5(POLR2A):c.3918+5G>C	LOC126862482, POLR2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2545369	NM_000937.5(POLR2A):c.4343G>A (p.Ser1448Asn)	LOC126862482, POLR2A (S1448N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505781	NM_000937.5(POLR2A):c.4123C>T (p.Arg1375Trp)	LOC126862482, POLR2A (R1375W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499612	NM_000937.5(POLR2A):c.2543T>C (p.Ile848Thr)	POLR2A, LOC126862481 (I848T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 2499438	NM_000937.5(POLR2A):c.3890C>A (p.Thr1297Asn)	LOC126862482, POLR2A (T1297N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486102	NM_000937.5(POLR2A):c.3908A>G (p.Gln1303Arg)	LOC126862482, POLR2A (Q1303R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435158	NM_000937.5(POLR2A):c.3392C>G (p.Ser1131Cys)	POLR2A (S1131C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2435157	NM_000937.5(POLR2A):c.3813+3A>G	POLR2A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2435156	NM_000937.5(POLR2A):c.69C>G (p.Phe23Leu)	POLR2A (F23L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 2368314	NM_000937.5(POLR2A):c.4474G>A (p.Gly1492Ser)	LOC126862482, POLR2A (G1492S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252169	NM_000937.5(POLR2A):c.3961A>G (p.Ile1321Val)	LOC126862482, POLR2A (I1321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231121	NM_000937.5(POLR2A):c.3950AGA[2] (p.Lys1319del)	LOC126862482, POLR2A (K1319del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2162695	NM_000937.5(POLR2A):c.4228C>T (p.His1410Tyr)	LOC126862482, POLR2A (H1410Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996464	NM_000937.5(POLR2A):c.2354T>C (p.Ile785Thr)	LOC126862481, POLR2A (I785T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879358	NM_000937.5(POLR2A):c.4166A>G (p.Asp1389Gly)	LOC126862482, POLR2A (D1389G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1708781	NM_000937.5(POLR2A):c.3909G>C (p.Gln1303His)	LOC126862482, POLR2A (Q1303H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701676	NM_000937.5(POLR2A):c.2887C>T (p.Arg963Trp)	POLR2A (R963W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 1696744	NM_000937.5(POLR2A):c.3946A>G (p.Asn1316Asp)	LOC126862482, POLR2A (N1316D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 1696459	NM_000937.5(POLR2A):c.5577G>T (p.Lys1859Asn)	POLR2A (K1859N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 1696153	NM_000937.5(POLR2A):c.4223G>A (p.Arg1408His)	LOC126862482, POLR2A (R1408H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694817	NM_000937.5(POLR2A):c.2376C>T (p.Asn792=)	LOC126862481, POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684550	GRCh37/hg19 17p13.1(chr17:7411849-7413057)x1	POLR2A	Copy number loss	See cases	GUncertain significance
Select item 1321926	NM_000937.5(POLR2A):c.2732C>T (p.Pro911Leu)	LOC126862481, POLR2A (P911L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1314388	NM_000937.5(POLR2A):c.2482C>A (p.Leu828Ile)	LOC126862481, POLR2A (L828I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310172	NM_000937.5(POLR2A):c.4120G>T (p.Val1374Leu)	LOC126862482, POLR2A (V1374L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306804	NM_000937.5(POLR2A):c.2500A>G (p.Thr834Ala)	LOC126862481, POLR2A (T834A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304730	NM_000937.5(POLR2A):c.4492+1G>A	LOC126862482, POLR2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1302150	NM_000937.5(POLR2A):c.2383G>A (p.Gly795Ser)	LOC126862481, POLR2A (G795S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190939	NM_000937.5(POLR2A):c.3964A>G (p.Ile1322Val)	LOC126862482, POLR2A (I1322V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064637	NM_000937.5(POLR2A):c.3373_3375del (p.Lys1125del)	POLR2A (K1125del)	Deletion (inframe_deletion)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 1030924	NM_000937.5(POLR2A):c.2689G>A (p.Ala897Thr)	LOC126862481, POLR2A (A897T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 985472	NM_000937.5(POLR2A):c.2350G>C (p.Val784Leu)	LOC126862481, POLR2A (V784L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985125	NM_000937.5(POLR2A):c.2369A>C (p.Gln790Pro)	POLR2A, LOC126862481 (Q790P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983378	NM_000937.5(POLR2A):c.3238A>G (p.Ile1080Val)	POLR2A (I1080V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983018	NM_000937.5(POLR2A):c.2508C>A (p.Phe836Leu)	LOC126862481, POLR2A (F836L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 873139	NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)	LOC126862482, POLR2A (G1418R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GPathogenic
Select item 732058	NM_000937.5(POLR2A):c.4062C>T (p.Pro1354=)	LOC126862482, POLR2A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 690429	NM_000937.5(POLR2A):c.2292= (p.Asn764=)	POLR2A	Variation (no sequence alteration)	Gemcitabine response	Gdrug response

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Items: 66