POLR1C[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1633793	NM_203290.4(POLR1C):c.70-12C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356870	NM_203290.4(POLR1C):c.70-7G>C	POLR1C	Single nucleotide variant (intron variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 1627657	NM_203290.4(POLR1C):c.70-6C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280457	NM_203290.4(POLR1C):c.70-1G>A	POLR1C	Single nucleotide variant (splice acceptor variant)	Hypomyelinating leukodystrophy 11 +1 more	GPathogenic
Select item 909508	NM_203290.4(POLR1C):c.70G>A (p.Val24Ile)	POLR1C (V24I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 204591	NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile)	POLR1C (T26I)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 211929	NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala)	POLR1C (T27A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 30814	NM_203290.4(POLR1C):c.87del (p.Gly31fs)	POLR1C (G31fs)	Deletion (frameshift variant)	Treacher Collins syndrome 3	GPathogenic
Select item 2585390	NM_203290.4(POLR1C):c.88C>G (p.Pro30Ala)	POLR1C (P30A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 375402	NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)	POLR1C (P30S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GConflicting classifications of pathogenicity
Select item 1568377	NM_203290.4(POLR1C):c.90C>T (p.Pro30=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128946	NM_203290.4(POLR1C):c.91G>A (p.Gly31Ser)	POLR1C (G31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204588	NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile)	POLR1C (N32I)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 1315278	NM_203290.4(POLR1C):c.98A>G (p.Tyr33Cys)	POLR1C (Y33C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GUncertain significance
Select item 522737	NM_203290.4(POLR1C):c.110A>G (p.Asp37Gly)	POLR1C (D37G)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GUncertain significance
Select item 2298351	NM_203290.4(POLR1C):c.115G>A (p.Ala39Thr)	POLR1C (A39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202873	NM_203290.4(POLR1C):c.116C>T (p.Ala39Val)	POLR1C (A39V)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +3 more	GUncertain significance
Select item 3308772	NM_203290.4(POLR1C):c.127G>A (p.Asp43Asn)	POLR1C (D43N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 356871	NM_203290.4(POLR1C):c.138G>A (p.Glu46=)	POLR1C	Single nucleotide variant (synonymous variant)	Treacher Collins Syndrome, Recessive	GUncertain significance
Select item 1277590	NM_203290.4(POLR1C):c.141+168C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873255	NM_203290.4(POLR1C):c.142-13C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1465339	NM_203290.4(POLR1C):c.148C>T (p.Arg50Cys)	POLR1C (R50C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920874	NM_203290.4(POLR1C):c.149G>T (p.Arg50Leu)	POLR1C (R50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487438	NM_203290.4(POLR1C):c.164A>G (p.His55Arg)	POLR1C (H55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950516	NM_203290.4(POLR1C):c.166A>G (p.Met56Val)	POLR1C (M56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370604	NM_203290.4(POLR1C):c.177C>A (p.Asn59Lys)	POLR1C (N59K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2314129	NM_203290.4(POLR1C):c.179C>T (p.Ser60Leu)	POLR1C (S60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 799369	NM_203290.4(POLR1C):c.180A>G (p.Ser60=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 356872	NM_203290.4(POLR1C):c.193A>G (p.Met65Val)	POLR1C (M65V)	Single nucleotide variant (missense variant)	Hearing impairment +5 more	GConflicting classifications of pathogenicity
Select item 2504854	NM_203290.4(POLR1C):c.203T>C (p.Ile68Thr)	POLR1C (I68T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2162220	NM_203290.4(POLR1C):c.204T>C (p.Ile68=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627110	NM_203290.4(POLR1C):c.205G>T (p.Asp69Tyr)	POLR1C (D69Y)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GLikely pathogenic
Select item 1607974	NM_203290.4(POLR1C):c.213C>T (p.Ala71=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968898	NM_203290.4(POLR1C):c.219C>G (p.Ala73=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204587	NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser)	POLR1C (N74S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356873	NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter)	POLR1C (R77*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1368238	NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter)	POLR1C (R78*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 2100463	NM_203290.4(POLR1C):c.249+3A>G	POLR1C	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1278545	NM_203290.4(POLR1C):c.250-81A>C	POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1557154	NM_203290.4(POLR1C):c.250-9C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742250	NM_203290.4(POLR1C):c.252G>A (p.Val84=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635140	NM_203290.4(POLR1C):c.281T>C (p.Val94Ala)	POLR1C (V94A)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 2417502	NM_203290.4(POLR1C):c.287A>G (p.Asn96Ser)	POLR1C (N96S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308110	NM_203290.4(POLR1C):c.293C>T (p.Thr98Ile)	POLR1C (T98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635141	NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe)	POLR1C (I105F)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 635142	NM_203290.4(POLR1C):c.322C>T (p.His108Tyr)	POLR1C (H108Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2585597	NM_203290.4(POLR1C):c.325C>A (p.Arg109Ser)	POLR1C (R109S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GUncertain significance
Select item 635143	NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys)	POLR1C (R109C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic/Likely pathogenic
Select item 204592	NM_203290.4(POLR1C):c.326G>A (p.Arg109His)	POLR1C (R109H)	Single nucleotide variant (missense variant)	POLR1C-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1446244	NM_203290.4(POLR1C):c.335T>C (p.Leu112Pro)	POLR1C (L112P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635144	NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro)	POLR1C (A117P)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 1375805	NM_203290.4(POLR1C):c.358C>T (p.Arg120Cys)	POLR1C (R120C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 548465	NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile)	POLR1C (F122I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +1 more	GLikely pathogenic
Select item 910444	NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)	POLR1C (R125Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +1 more	GUncertain significance
Select item 1187400	NM_203290.4(POLR1C):c.383-37G>A	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949723	NM_203290.4(POLR1C):c.383-20A>C	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926664	NM_203290.4(POLR1C):c.387T>C (p.Asp129=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635145	NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp)	POLR1C (G132D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1200831	NM_203290.4(POLR1C):c.400G>T (p.Glu134Ter)	POLR1C (E134*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2072032	NM_203290.4(POLR1C):c.415_416del (p.Gln139fs)	POLR1C (Q139fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 724886	NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)	POLR1C (R141C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204589	NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg)	POLR1C (C146R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 3349434	NM_203290.4(POLR1C):c.438C>A (p.Cys146Ter)	POLR1C (C146*)	Single nucleotide variant (nonsense)	POLR1C-related disorder	GLikely pathogenic
Select item 356874	NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln)	POLR1C (R148Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1493200	NM_203290.4(POLR1C):c.452A>T (p.His151Leu)	POLR1C (H151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390718	NM_203290.4(POLR1C):c.454GCT[1] (p.Ala153del)	POLR1C (A153del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2733186	NM_203290.4(POLR1C):c.456T>C (p.Ala152=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635146	NM_203290.4(POLR1C):c.461_462del (p.Lys154fs)	POLR1C (K154fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 1480731	NM_203290.4(POLR1C):c.470C>G (p.Ser157Cys)	POLR1C (S157C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403583	NM_203290.4(POLR1C):c.475C>G (p.Pro159Ala)	POLR1C (P159A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 910445	NM_203290.4(POLR1C):c.480C>T (p.Asn160=)	POLR1C	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2180072	NM_203290.4(POLR1C):c.481G>A (p.Glu161Lys)	POLR1C (E161K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356875	NM_203290.4(POLR1C):c.489C>T (p.Tyr163=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 910446	NM_203290.4(POLR1C):c.490G>A (p.Val164Met)	POLR1C (V164M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 635147	NM_203290.4(POLR1C):c.502G>A (p.Val168Met)	POLR1C (V168M)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 2103690	NM_203290.4(POLR1C):c.502+17T>C	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976231	NM_203290.4(POLR1C):c.503-15A>C	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183080	NM_203290.4(POLR1C):c.503-7C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2321194	NM_203290.4(POLR1C):c.506A>G (p.Tyr169Cys)	POLR1C (Y169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1674480	NM_203290.4(POLR1C):c.510C>G (p.Thr170=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955184	NM_203290.4(POLR1C):c.522A>G (p.Thr174=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 225445	NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer)	POLR1C	Deletion (nonsense)	Hypomyelinating leukodystrophy 11 +1 more	GPathogenic/Likely pathogenic
Select item 1913889	NM_203290.4(POLR1C):c.534G>C (p.Leu178=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1897762	NM_203290.4(POLR1C):c.536G>A (p.Gly179Glu)	POLR1C (G179E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701503	NM_203290.4(POLR1C):c.546T>C (p.Ala182=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698479	NM_203290.4(POLR1C):c.549T>G (p.Asp183Glu)	POLR1C (D183E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633534	NM_203290.4(POLR1C):c.550C>G (p.Leu184Val)	POLR1C (L184V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 356876	NM_203290.4(POLR1C):c.561G>A (p.Glu187=)	POLR1C	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2591689	NM_203290.4(POLR1C):c.568A>G (p.Ile190Val)	POLR1C (I190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 285658	NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln)	POLR1C (R191Q)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GConflicting classifications of pathogenicity
Select item 2287746	NM_203290.4(POLR1C):c.575C>T (p.Pro192Leu)	POLR1C (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485233	NM_203290.4(POLR1C):c.578T>C (p.Val193Ala)	POLR1C (V193A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722244	NM_203290.4(POLR1C):c.583G>C (p.Asp195His)	POLR1C (D195H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 911662	NM_203290.4(POLR1C):c.585T>C (p.Asp195=)	POLR1C	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1903292	NM_203290.4(POLR1C):c.587A>G (p.Asp196Gly)	POLR1C (D196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211928	NM_203290.4(POLR1C):c.591C>T (p.Ile197=)	POLR1C	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2811595	NM_203290.4(POLR1C):c.595A>G (p.Ile199Val)	POLR1C (I199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041377	NM_203290.4(POLR1C):c.597C>T (p.Ile199=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 356877	NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr)	POLR1C (A200T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1902781	NM_203290.4(POLR1C):c.607C>T (p.Arg203Trp)	POLR1C (R203W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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