POLR3C[gene] and "single gene"[properties] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2615387	NM_006468.8(POLR3C):c.958C>T (p.Leu320=)	POLR3C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308829	NM_006468.8(POLR3C):c.998T>C (p.Met333Thr)	POLR3C (M333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688086	NM_006468.8(POLR3C):c.1070+97G>T	POLR3C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3216573	NM_006468.8(POLR3C):c.1073T>C (p.Phe358Ser)	POLR3C (F358S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308830	NM_006468.8(POLR3C):c.1093A>C (p.Ile365Leu)	POLR3C (I365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308828	NM_006468.8(POLR3C):c.1097T>C (p.Phe366Ser)	POLR3C (F379S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308825	NM_006468.8(POLR3C):c.1097T>G (p.Phe366Cys)	POLR3C (F379C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037231	NM_006468.8(POLR3C):c.1100G>A (p.Arg367His)	POLR3C (R367H +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GLikely benign
Select item 3216574	NM_006468.8(POLR3C):c.1181T>C (p.Met394Thr)	POLR3C (M407T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530295	NM_006468.8(POLR3C):c.1182G>T (p.Met394Ile)	POLR3C (M394I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407074	NM_006468.8(POLR3C):c.1298G>A (p.Arg433Gln)	POLR3C (R433Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308827	NM_006468.8(POLR3C):c.1379T>C (p.Leu460Pro)	POLR3C (L460P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551360	NM_006468.8(POLR3C):c.1474A>T (p.Thr492Ser)	POLR3C (T492S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632405	NM_006468.8(POLR3C):c.1496T>A (p.Leu499Gln)	POLR3C (L499Q +1 more)	Single nucleotide variant (missense variant)	POLR3C-related disorder	GUncertain significance
Select item 3352733	NM_006468.8(POLR3C):c.1533del (p.Ser512fs)	POLR3C (S512fs +1 more)	Deletion (frameshift variant)	POLR3C-related disorder	GUncertain significance

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Items: 39