POLR3C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 145369	GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1	ANKRD34A, ANKRD35 +73 more	Copy number loss	See cases	GBenign
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	MIR5087, MIR6077 +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	LOC101927468, LOC106783502 +133 more	Copy number gain	See cases	GPathogenic
Select item 59864	GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1	ANKRD34A, ANKRD35 +61 more	Copy number loss	See cases	GPathogenic
Select item 59860	GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1	ANKRD34A, ANKRD35 +67 more	Copy number loss	See cases	GPathogenic
Select item 59720	GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GUncertain significance
Select item 59719	GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GUncertain significance
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 545143	NC_000001.11:g.(?_145430995)_(148427734_?)del	RNVU1-6, RNVU1-7 +118 more	Deletion	Schizophrenia	GPathogenic
Select item 545142	NC_000001.11:g.(?_145430995)_(148257619_?)del	LOC129931347, LOC129931348 +104 more	Deletion	Schizophrenia	GPathogenic
Select item 146422	GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3	ANKRD34A, ANKRD35 +66 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 35076	GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1	ACP6, ANKRD34A +115 more	Copy number loss	See cases	GPathogenic
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545147	Single allele	LOC129931348, LOC129931349 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545146	NC_000001.11:g.(?_145601945)_(146048346_?)del	ANKRD34A, ANKRD35 +52 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545145	Single allele	ANKRD34A, ANKRD35 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 160936	GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3	ANKRD34A, ANKRD35 +43 more	Copy number gain	See cases	GUncertain significance
Select item 155155	GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1	ANKRD34A, ANKRD35 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 153424	GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1	ANKRD34A, ANKRD35 +54 more	Copy number loss	See cases	GLikely benign
Select item 152673	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 150730	GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1	ANKRD34A, ANKRD35 +52 more	Copy number loss	See cases	GPathogenic
Select item 148600	GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1	ANKRD34A, ANKRD35 +44 more	Copy number loss	See cases	GPathogenic
Select item 146009	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 59869	GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1	ANKRD34A, ANKRD35 +52 more	Copy number loss	See cases	GPathogenic
Select item 59353	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GPathogenic
Select item 59352	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GPathogenic
Select item 58494	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1	ANKRD34A, ANKRD35 +61 more	Copy number loss	See cases	GPathogenic
Select item 34710	GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3	ANKRD34A, ANKRD35 +43 more	Copy number gain	See cases	GUncertain significance
Select item 155534	GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1	ANKRD34A, ANKRD35 +54 more	Copy number loss	See cases	GUncertain significance
Select item 59870	GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GPathogenic
Select item 59872	GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GPathogenic
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 144668	GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3	ANKRD34A, ANKRD35 +42 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160833	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	ANKRD34A, ANKRD35 +41 more	Copy number loss	See cases	GPathogenic
Select item 59871	GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GPathogenic
Select item 59691	GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3	ANKRD34A, ANKRD35 +35 more	Copy number gain	See cases	GUncertain significance
Select item 57296	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3	ANKRD34A, ANKRD35 +41 more	Copy number gain	See cases	GBenign
Select item 32650	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	ANKRD34A, ANKRD35 +41 more	Copy number loss	See cases	GPathogenic
Select item 154041	GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GUncertain significance
Select item 146687	GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1	TXNIP, ANKRD34A +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 59867	GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1	ANKRD34A, ANKRD35 +49 more	Copy number loss	See cases	GPathogenic
Select item 146028	GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3	ANKRD34A, ANKRD35 +53 more	Copy number gain	See cases	GPathogenic
Select item 146163	GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3	ANKRD34A, ANKRD35 +52 more	Copy number gain	See cases	GLikely pathogenic
Select item 58485	GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1	ANKRD34A, ANKRD35 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	ANKRD34A, ANKRD35 +47 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 2340148	NM_006468.8(POLR3C):c.71T>C (p.Ile24Thr)	POLR3C (I24T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459325	NM_006468.8(POLR3C):c.92C>T (p.Thr31Ile)	POLR3C (T31I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334727	NM_006468.8(POLR3C):c.190A>T (p.Ser64Cys)	POLR3C (S64C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254453	NM_006468.8(POLR3C):c.191G>C (p.Ser64Thr)	POLR3C (S64T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216575	NM_006468.8(POLR3C):c.209G>A (p.Arg70His)	POLR3C (R83H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564338	NM_006468.8(POLR3C):c.233A>G (p.Gln78Arg)	POLR3C (Q78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932519	NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln)	POLR3C (R84Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2549172	NM_006468.8(POLR3C):c.268C>T (p.Arg90Trp)	POLR3C (R90W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575469	NM_006468.8(POLR3C):c.298A>G (p.Ser100Gly)	POLR3C (S100G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346452	NM_006468.8(POLR3C):c.429A>C (p.Glu143Asp)	POLR3C (E143D +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GLikely benign
Select item 2387374	NM_006468.8(POLR3C):c.476G>A (p.Arg159His)	POLR3C (R159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355100	NM_006468.8(POLR3C):c.518del (p.Pro173fs)	POLR3C (P173fs +1 more)	Deletion (frameshift variant)	POLR3C-related disorder	GUncertain significance
Select item 2244905	NM_006468.8(POLR3C):c.533C>G (p.Pro178Arg)	POLR3C (P178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054684	NM_006468.8(POLR3C):c.551A>G (p.Glu184Gly)	POLR3C (E184G +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GLikely benign
Select item 3216577	NM_006468.8(POLR3C):c.562T>C (p.Tyr188His)	POLR3C (Y188H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043483	NM_006468.8(POLR3C):c.575A>C (p.Lys192Thr)	POLR3C (K192T +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GLikely benign
Select item 3216578	NM_006468.8(POLR3C):c.577C>T (p.Leu193Phe)	POLR3C (L206F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617832	NM_006468.8(POLR3C):c.644C>G (p.Ala215Gly)	POLR3C (A215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354171	NM_006468.8(POLR3C):c.752T>C (p.Ile251Thr)	POLR3C (I251T +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GUncertain significance
Select item 2635384	NM_006468.8(POLR3C):c.754G>C (p.Val252Leu)	POLR3C (V252L +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GUncertain significance
Select item 2307529	NM_006468.8(POLR3C):c.779A>G (p.Asp260Gly)	POLR3C (D260G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216579	NM_006468.8(POLR3C):c.812T>G (p.Leu271Arg)	POLR3C (L271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521721	NM_006468.8(POLR3C):c.854C>T (p.Thr285Ile)	POLR3C (T298I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631044	NM_006468.8(POLR3C):c.876+3G>A	POLR3C	Single nucleotide variant (intron variant)	POLR3C-related disorder	GUncertain significance

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