POLR2E[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 151474	GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3	ABCA7, ARHGAP45 +25 more	Copy number gain	See cases	GLikely benign
Select item 3216534	NM_002695.5(POLR2E):c.575A>T (p.Lys192Met)	POLR2E (K192M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216533	NM_002695.5(POLR2E):c.574A>G (p.Lys192Glu)	POLR2E (K192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216532	NM_002695.5(POLR2E):c.541C>T (p.Arg181Cys)	POLR2E (R88C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297547	NM_002695.5(POLR2E):c.507G>C (p.Gln169His)	POLR2E (Q169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489438	NM_002695.5(POLR2E):c.404T>C (p.Leu135Pro)	POLR2E (L135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216531	NM_002695.5(POLR2E):c.328A>G (p.Met110Val)	POLR2E (M17V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599581	NM_002695.5(POLR2E):c.233-2A>G	POLR2E	Single nucleotide variant (splice acceptor variant)	Short stature	GPathogenic
Select item 2537391	NM_002695.5(POLR2E):c.229C>G (p.Pro77Ala)	POLR2E (P77A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768946	NM_002695.5(POLR2E):c.159G>A (p.Pro53=)	POLR2E	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3216530	NM_002695.5(POLR2E):c.155G>A (p.Arg52Gln)	POLR2E (R52Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367990	NM_002695.5(POLR2E):c.146G>A (p.Ser49Asn)	POLR2E (S49N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614083	NM_002695.5(POLR2E):c.58C>T (p.Leu20=)	POLR2E	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3242659	NC_000019.9:g.(?_1091474)_(1105774_?)del	GPX4, POLR2E	Deletion	not provided	GPathogenic
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 833462	NC_000019.9:g.(?_852319)_(1226656_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832758	NC_000019.9:g.(?_852326)_(1226646_?)del	SBNO2, POLR2E +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 584311	NC_000019.9:g.(?_852323)_(1222011_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 584004	NC_000019.9:g.(?_852323)_(1226652_?)del	CFD, CNN2 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 583605	NC_000019.9:g.(?_852319)_(1226656_?)dup	ABCA7, ARHGAP45 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 458009	NC_000019.9:g.(?_852323)_(1207208_?)dup	SBNO2, ABCA7 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 219015	GRCh37/hg19 19p13.3(chr19:823554-1206859)x3	POLR2E, PRTN3 +16 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54