POLR2C[gene] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 3308806	NM_032940.3(POLR2C):c.35C>T (p.Thr12Met)	LOC112469008, POLR2C (T12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256028	NM_032940.3(POLR2C):c.77C>G (p.Thr26Ser)	LOC112469008, POLR2C (T26S)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 3308808	NM_032940.3(POLR2C):c.87G>T (p.Ala29=)	POLR2C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2523520	NM_032940.3(POLR2C):c.95A>G (p.Asn32Ser)	POLR2C (N32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537110	NM_032940.3(POLR2C):c.104G>T (p.Arg35Leu)	POLR2C (R35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308807	NM_032940.3(POLR2C):c.118G>C (p.Ala40Pro)	POLR2C (A40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216526	NM_032940.3(POLR2C):c.409A>G (p.Asn137Asp)	POLR2C (N137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308805	NM_032940.3(POLR2C):c.485G>C (p.Arg162Pro)	POLR2C (R162P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216527	NM_032940.3(POLR2C):c.491A>G (p.Tyr164Cys)	POLR2C (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256007	NM_032940.3(POLR2C):c.544G>T (p.Val182Leu)	POLR2C (V182L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 872981	NM_032940.3(POLR2C):c.545T>C (p.Val182Ala)	POLR2C (V182A)	Single nucleotide variant (missense variant)	Deafness +1 more	GUncertain significance
Select item 2274545	NM_032940.3(POLR2C):c.548C>T (p.Ala183Val)	POLR2C (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216528	NM_032940.3(POLR2C):c.659A>G (p.Tyr220Cys)	POLR2C (Y220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301583	NM_032940.3(POLR2C):c.670G>A (p.Gly224Ser)	POLR2C (G224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393247	NM_032940.3(POLR2C):c.695A>G (p.Asn232Ser)	POLR2C (N232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 808175	GRCh37/hg19 16q21(chr16:57499814-58032169)x3	ADGRG1, ADGRG3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394759	GRCh37/hg19 16q21(chr16:57475008-57513598)x1	CIAPIN1, COQ9 +2 more	Copy number loss	See cases	GUncertain significance
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	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: 44