POLR1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 1216052	NC_000006.12:g.43516794G>A	LOC129996517, POLR1C +1 more (A5V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1216411	NC_000006.12:g.43516856G>T	YIPF3, LOC129996517 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1201016	NC_000006.12:g.43516856G>A	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1217870	NC_000006.12:g.43516878C>T	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1281294	NC_000006.12:g.43516905G>A	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2580819	NC_000006.12:g.43516988_43516990dup	LOC129996517, POLR1C	Duplication	not provided	GLikely benign
Select item 356866	NM_203290.3(POLR1C):c.-63C>A	LOC129996517, POLR1C	Single nucleotide variant	Treacher Collins Syndrome, Recessive	GUncertain significance
Select item 356867	NM_203290.4(POLR1C):c.-21A>G	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 909505	NM_203290.4(POLR1C):c.-15G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3 +1 more	GBenign/Likely benign
Select item 909506	NM_203290.4(POLR1C):c.-8G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356868	NM_203290.4(POLR1C):c.-4G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 728489	NM_203290.4(POLR1C):c.8C>T (p.Ala3Val)	LOC129996517, POLR1C (A3V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1977171	NM_203290.4(POLR1C):c.9T>C (p.Ala3=)	LOC129996517, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308774	NM_203290.4(POLR1C):c.19G>A (p.Val7Met)	LOC129996517, POLR1C (V7M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710934	NM_203290.4(POLR1C):c.23A>G (p.Glu8Gly)	LOC129996517, POLR1C (E8G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1344573	NM_203290.4(POLR1C):c.32G>A (p.Arg11Gln)	LOC129996517, POLR1C (R11Q)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11	GUncertain significance
Select item 909507	NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)	LOC129996517, POLR1C (S12G)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 1626615	NM_203290.4(POLR1C):c.36C>T (p.Ser12=)	LOC129996517, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809939	NM_203290.4(POLR1C):c.37C>T (p.Arg13Cys)	LOC129996517, POLR1C (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181415	NM_203290.4(POLR1C):c.39C>T (p.Arg13=)	LOC129996517, POLR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200842	NM_203290.4(POLR1C):c.65G>A (p.Arg22His)	LOC129996517, POLR1C (R22H)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +4 more	GUncertain significance
Select item 356869	NM_203290.4(POLR1C):c.68A>G (p.Asn23Ser)	LOC129996517, POLR1C (N23S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 635139	NM_203290.4(POLR1C):c.69+1G>A	LOC129996517, POLR1C	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 11	GPathogenic
Select item 2435155	NM_203290.4(POLR1C):c.69+5G>A	LOC129996517, POLR1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2826713	NM_203290.4(POLR1C):c.69+15C>T	POLR1C, LOC129996517	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	not provided +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)	not specified +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)	Treacher Collins syndrome 3 +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

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