5430[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 3257004	NM_000937.5(POLR2A):c.6C>T (p.His2=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3216512	NM_000937.5(POLR2A):c.56A>G (p.Lys19Arg)	POLR2A (K19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647338	NM_000937.5(POLR2A):c.60A>C (p.Arg20Ser)	POLR2A (R20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574393	NM_000937.5(POLR2A):c.66G>T (p.Gln22His)	POLR2A (Q22H)	Single nucleotide variant (missense variant)	not provided	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 2578126	NM_000937.5(POLR2A):c.83C>T (p.Pro28Leu)	POLR2A (P28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873141	NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)	POLR2A (P28R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GUncertain significance
Select item 1690397	NM_000937.5(POLR2A):c.85G>C (p.Asp29His)	POLR2A (D29H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 873145	NM_000937.5(POLR2A):c.89A>T (p.Glu30Val)	POLR2A (E30V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3056317	NM_000937.5(POLR2A):c.94-16CTTT[2]	POLR2A	Microsatellite (intron variant)	POLR2A-related disorder	GBenign
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 2631436	NM_000937.5(POLR2A):c.152G>A (p.Arg51His)	POLR2A (R51H)	Single nucleotide variant (missense variant)	POLR2A-related disorder	GUncertain significance
Select item 3059166	NM_000937.5(POLR2A):c.153C>T (p.Arg51=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
Select item 2576723	NM_000937.5(POLR2A):c.164G>C (p.Gly55Ala)	POLR2A (G55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580815	NM_000937.5(POLR2A):c.170T>C (p.Leu57Pro)	POLR2A (L57P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791411	NM_000937.5(POLR2A):c.180G>T (p.Pro60=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2572860	NM_000937.5(POLR2A):c.289G>T (p.Val97Leu)	POLR2A (V97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 873142	NM_000937.5(POLR2A):c.323G>A (p.Arg108His)	POLR2A (R108H)	Single nucleotide variant (missense variant)	not provided	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 1701850	NM_000937.5(POLR2A):c.381G>C (p.Lys127Asn)	POLR2A (K127N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2582186	NM_000937.5(POLR2A):c.383A>C (p.Asp128Ala)	POLR2A (D128A)	Single nucleotide variant (missense variant)	not provided	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 873143	NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp)	POLR2A (R140W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	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 2647339	NM_000937.5(POLR2A):c.435C>T (p.Tyr145=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058920	NM_000937.5(POLR2A):c.471G>A (p.Gly157=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
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 1801863	NM_000937.5(POLR2A):c.481G>A (p.Asp161Asn)	POLR2A (D161N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570971	NM_000937.5(POLR2A):c.492C>T (p.Phe164=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2446502	NM_000937.5(POLR2A):c.504A>C (p.Gln168His)	POLR2A (Q168H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722877	NM_000937.5(POLR2A):c.517G>C (p.Glu173Gln)	POLR2A (E173Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327431	NM_000937.5(POLR2A):c.538-42C>T	POLR2A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more	GBenign
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 2647340	NM_000937.5(POLR2A):c.575G>T (p.Arg192Leu)	POLR2A (R192L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432824	NM_000937.5(POLR2A):c.628C>T (p.Gln210Ter)	POLR2A (Q210*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
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 1705149	NM_000937.5(POLR2A):c.680G>A (p.Arg227His)	POLR2A (R227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647341	NM_000937.5(POLR2A):c.684C>T (p.Ile228=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690871	NM_000937.5(POLR2A):c.688G>T (p.Asp230Tyr)	POLR2A (D230Y)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1802041	NM_000937.5(POLR2A):c.706C>G (p.Leu236Val)	POLR2A (L236V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2647342	NM_000937.5(POLR2A):c.721C>T (p.Arg241Cys)	POLR2A (R241C)	Single nucleotide variant (missense variant)	not provided +1 more	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 2626901	NM_000937.5(POLR2A):c.742A>T (p.Met248Leu)	POLR2A (M248L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 1708063	NM_000937.5(POLR2A):c.778G>A (p.Val260Met)	POLR2A (V260M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 2217946	NM_000937.5(POLR2A):c.808G>A (p.Ala270Thr)	POLR2A (A270T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2554306	NM_000937.5(POLR2A):c.811C>T (p.Arg271Cys)	POLR2A (R271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1703317	NM_000937.5(POLR2A):c.832C>T (p.His278Tyr)	POLR2A (H278Y)	Single nucleotide variant (missense variant)	not provided	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 2441709	NM_000937.5(POLR2A):c.847A>G (p.Ile283Val)	POLR2A (I283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3033973	NM_000937.5(POLR2A):c.849C>T (p.Ile283=)	POLR2A	Single nucleotide variant (synonymous variant)	POLR2A-related disorder	GBenign
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 3216513	NM_000937.5(POLR2A):c.959A>G (p.Asn320Ser)	POLR2A (N320S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1227670	NM_000937.5(POLR2A):c.960T>C (p.Asn320=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647343	NM_000937.5(POLR2A):c.980G>A (p.Arg327His)	POLR2A (R327H)	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 2647344	NM_000937.5(POLR2A):c.1023G>A (p.Gln341=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1343120	NM_000937.5(POLR2A):c.1051C>T (p.Arg351Ter)	POLR2A (R351*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2500278	NM_000937.5(POLR2A):c.1112C>T (p.Pro371Leu)	POLR2A (P371L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 1309420	NM_000937.5(POLR2A):c.1114A>G (p.Asn372Asp)	POLR2A (N372D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2213189	NM_000937.5(POLR2A):c.1150A>G (p.Ile384Val)	POLR2A (I384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689646	NM_000937.5(POLR2A):c.1166C>G (p.Thr389Ser)	POLR2A (T389S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647345	NM_000937.5(POLR2A):c.1172C>G (p.Ala391Gly)	POLR2A (A391G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647346	NM_000937.5(POLR2A):c.1173G>A (p.Ala391=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3250584	NM_000937.5(POLR2A):c.1194C>T (p.Asn398=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520534	NM_000937.5(POLR2A):c.1195A>G (p.Ile399Val)	POLR2A (I399V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354876	NM_000937.5(POLR2A):c.1219C>T (p.Arg407Cys)	POLR2A (R407C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025323	NM_000937.5(POLR2A):c.1245C>T (p.Gly415=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573733	NM_000937.5(POLR2A):c.1288C>A (p.Arg430Ser)	POLR2A (R430S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873135	NM_000937.5(POLR2A):c.1314_1319del (p.His439_Leu440del)	POLR2A	Deletion (inframe_deletion)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
Select item 1320165	NM_000937.5(POLR2A):c.1357_1360dup (p.Asp454fs)	POLR2A (D454fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
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 691497	NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr)	POLR2A (I457T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1343251	NM_000937.5(POLR2A):c.1379G>A (p.Arg460Gln)	POLR2A (R460Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	GLikely pathogenic
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 1327432	NM_000937.5(POLR2A):c.1461-44G>A	POLR2A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more	GBenign
Select item 2571906	NM_000937.5(POLR2A):c.1461-1G>C	POLR2A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1244978	NM_000937.5(POLR2A):c.1461T>C (p.Ser487=)	POLR2A	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +1 more	GBenign
Select item 916441	NM_000937.5(POLR2A):c.1462G>A (p.Val488Met)	POLR2A (V488M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3025457	NM_000937.5(POLR2A):c.1473G>A (p.Pro491=)	POLR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678426	NM_000937.5(POLR2A):c.1568G>A (p.Arg523His)	POLR2A (R523H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575536	NM_000937.5(POLR2A):c.1625_1628del (p.Leu542fs)	POLR2A (L542fs)	Deletion (frameshift variant)	POLR2A-related disorder +1 more	GUncertain significance
Select item 2495505	NM_000937.5(POLR2A):c.1657G>A (p.Val553Ile)	POLR2A (V553I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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