ClinVar for Gene (Select 5430) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 357

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367127	NM_000937.5(POLR2A):c.3712+4A>G	POLR2A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 3366746	NM_000937.5(POLR2A):c.3793G>A (p.Asp1265Asn)	POLR2A (D1265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366048	NM_000937.5(POLR2A):c.4786A>G (p.Thr1596Ala)	POLR2A (T1596A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365729	NM_000937.5(POLR2A):c.1448G>A (p.Arg483His)	POLR2A (R483H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365255	NM_000937.5(POLR2A):c.5383C>T (p.Pro1795Ser)	POLR2A (P1795S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365170	NM_000937.5(POLR2A):c.4774A>G (p.Ser1592Gly)	POLR2A (S1592G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365035	NM_000937.5(POLR2A):c.3802_3803del (p.Lys1268fs)	POLR2A (K1268fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364421	NM_000937.5(POLR2A):c.205G>T (p.Gly69Cys)	POLR2A (G69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363600	NM_000937.5(POLR2A):c.1184C>A (p.Thr395Asn)	POLR2A (T395N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363386	NM_000937.5(POLR2A):c.1885G>T (p.Val629Leu)	POLR2A (V629L)	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 3349674	NM_000937.5(POLR2A):c.5176A>G (p.Ser1726Gly)	POLR2A (S1726G)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3349564	NM_000937.5(POLR2A):c.1750C>T (p.Pro584Ser)	POLR2A (P584S)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3347465	NM_000937.5(POLR2A):c.4817G>T (p.Gly1606Val)	POLR2A (G1606V)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3345561	NM_000937.5(POLR2A):c.1369A>G (p.Ile457Val)	POLR2A (I457V)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3345025	NM_000937.5(POLR2A):c.3263G>C (p.Gly1088Ala)	POLR2A (G1088A)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3343776	NM_000937.5(POLR2A):c.5913A>G (p.Ter1971Trp)	POLR2A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3343528	NM_000937.5(POLR2A):c.4604T>C (p.Val1535Ala)	POLR2A (V1535A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342858	NM_000937.5(POLR2A):c.3865G>A (p.Glu1289Lys)	POLR2A (E1289K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3342656	NM_000937.5(POLR2A):c.475G>A (p.Glu159Lys)	POLR2A (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341657	NM_000937.5(POLR2A):c.1663C>T (p.Leu555=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341641	NM_000937.5(POLR2A):c.3495G>A (p.Thr1165=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336563	NM_000937.5(POLR2A):c.2059A>G (p.Ile687Val)	POLR2A (I687V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336168	NM_000937.5(POLR2A):c.4724C>T (p.Pro1575Leu)	POLR2A (P1575L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308801	NM_000937.5(POLR2A):c.4997C>T (p.Pro1666Leu)	POLR2A (P1666L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308800	NM_000937.5(POLR2A):c.863A>G (p.Asn288Ser)	POLR2A (N288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308799	NM_000937.5(POLR2A):c.833A>T (p.His278Leu)	POLR2A (H278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308797	NM_000937.5(POLR2A):c.3125A>G (p.Asn1042Ser)	POLR2A (N1042S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308796	NM_000937.5(POLR2A):c.2861G>A (p.Arg954Gln)	POLR2A (R954Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308795	NM_000937.5(POLR2A):c.20C>T (p.Pro7Leu)	POLR2A (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308794	NM_000937.5(POLR2A):c.1672G>A (p.Gly558Ser)	POLR2A (G558S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257004	NM_000937.5(POLR2A):c.6C>T (p.His2=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3252177	NM_000937.5(POLR2A):c.641T>A (p.Ile214Asn)	POLR2A (I214N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251351	NM_000937.5(POLR2A):c.997G>A (p.Gly333Arg)	POLR2A (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250612	NM_000937.5(POLR2A):c.1707G>A (p.Thr569=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250584	NM_000937.5(POLR2A):c.1194C>T (p.Asn398=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	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 3236075	NM_000937.5(POLR2A):c.206G>T (p.Gly69Val)	POLR2A (G69V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 3234820	NM_000937.5(POLR2A):c.5756C>T (p.Thr1919Ile)	POLR2A (T1919I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234802	NM_000937.5(POLR2A):c.730C>T (p.Arg244Trp)	POLR2A (R244W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234400	NM_000937.5(POLR2A):c.3192C>T (p.Ala1064=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234378	NM_000937.5(POLR2A):c.2094T>G (p.Thr698=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233554	NM_000937.5(POLR2A):c.2317G>A (p.Gly773Arg)	POLR2A (G773R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216513	NM_000937.5(POLR2A):c.959A>G (p.Asn320Ser)	POLR2A (N320S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216512	NM_000937.5(POLR2A):c.56A>G (p.Lys19Arg)	POLR2A (K19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216511	NM_000937.5(POLR2A):c.5524A>T (p.Thr1842Ser)	POLR2A (T1842S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216510	NM_000937.5(POLR2A):c.5467C>A (p.Pro1823Thr)	POLR2A (P1823T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216509	NM_000937.5(POLR2A):c.5237C>T (p.Pro1746Leu)	POLR2A (P1746L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216508	NM_000937.5(POLR2A):c.5209_5212dup (p.Ser1738fs)	POLR2A (S1738fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3216507	NM_000937.5(POLR2A):c.4588G>A (p.Ala1530Thr)	POLR2A (A1530T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216506	NM_000937.5(POLR2A):c.391G>T (p.Ala131Ser)	POLR2A (A131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216505	NM_000937.5(POLR2A):c.3445C>G (p.Arg1149Gly)	POLR2A (R1149G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216504	NM_000937.5(POLR2A):c.335T>G (p.Phe112Cys)	POLR2A (F112C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216502	NM_000937.5(POLR2A):c.312G>T (p.Met104Ile)	POLR2A (M104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216501	NM_000937.5(POLR2A):c.3016C>G (p.Pro1006Ala)	POLR2A (P1006A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216500	NM_000937.5(POLR2A):c.2048A>C (p.Glu683Ala)	POLR2A (E683A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216499	NM_000937.5(POLR2A):c.137C>T (p.Thr46Met)	POLR2A (T46M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3059166	NM_000937.5(POLR2A):c.153C>T (p.Arg51=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
Select item 3058920	NM_000937.5(POLR2A):c.471G>A (p.Gly157=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
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 3056317	NM_000937.5(POLR2A):c.94-16CTTT[2]	POLR2A	Microsatellite (intron variant)	POLR2A-related disorder	GBenign
Select item 3055599	NM_000937.5(POLR2A):c.4607-15TC[2]	POLR2A	Microsatellite (intron variant)	POLR2A-related disorder	GLikely benign
Select item 3052322	NM_000937.5(POLR2A):c.5625G>A (p.Ser1875=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
Select item 3051168	NM_000937.5(POLR2A):c.5301C>G (p.Pro1767=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GLikely benign
Select item 3045919	NM_000937.5(POLR2A):c.5296T>C (p.Ser1766Pro)	POLR2A (S1766P)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3045711	NM_000937.5(POLR2A):c.3732C>T (p.Asn1244=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041250	NM_000937.5(POLR2A):c.3015C>T (p.His1005=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GLikely benign
Select item 3038241	NM_000937.5(POLR2A):c.3813+8G>A	POLR2A	Single nucleotide variant (intron variant)	POLR2A-related disorder	GBenign
Select item 3037607	NM_000937.5(POLR2A):c.3552G>A (p.Thr1184=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
Select item 3033973	NM_000937.5(POLR2A):c.849C>T (p.Ile283=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
Select item 3026072	NM_000937.5(POLR2A):c.3144G>A (p.Thr1048=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025678	NM_000937.5(POLR2A):c.5790C>T (p.Tyr1930=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025651	NM_000937.5(POLR2A):c.4101+8C>T	LOC126862482, POLR2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025458	NM_000937.5(POLR2A):c.2163C>T (p.His721=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025457	NM_000937.5(POLR2A):c.1473G>A (p.Pro491=)	POLR2A	Single nucleotide variant (synonymous 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 3025400	NM_000937.5(POLR2A):c.5397G>A (p.Pro1799=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025323	NM_000937.5(POLR2A):c.1245C>T (p.Gly415=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025312	NM_000937.5(POLR2A):c.4932G>A (p.Ser1644=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025160	NM_000937.5(POLR2A):c.5373T>C (p.Ser1791=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025159	NM_000937.5(POLR2A):c.5370C>T (p.Tyr1790=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803689	NM_000937.5(POLR2A):c.2895G>A (p.Val965=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2672679	NM_000937.5(POLR2A):c.812G>A (p.Arg271His)	POLR2A (R271H)	Single nucleotide variant (missense variant)	not provided	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 2663663	NM_000937.5(POLR2A):c.3028G>T (p.Val1010Leu)	POLR2A (V1010L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662585	NM_000937.5(POLR2A):c.2167_2169del (p.Asn723del)	POLR2A (N723del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2647365	NM_000937.5(POLR2A):c.5538C>T (p.Tyr1846=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 4