C2676243[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300981	NM_007055.4(POLR3A):c.*2205T>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300982	NM_007055.4(POLR3A):c.*2190G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300983	NM_007055.4(POLR3A):c.*2134C>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300984	NM_007055.4(POLR3A):c.*2073C>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300985	NM_007055.4(POLR3A):c.*2039C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 300986	NM_007055.4(POLR3A):c.*1965A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 300988	NM_007055.4(POLR3A):c.*1953G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300987	NM_007055.4(POLR3A):c.*1953G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300989	NM_007055.4(POLR3A):c.*1945G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300990	NM_007055.4(POLR3A):c.*1924G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 300991	NM_007055.4(POLR3A):c.*1873C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300992	NM_007055.4(POLR3A):c.*1869C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300993	NM_007055.4(POLR3A):c.*1867A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300994	NM_007055.4(POLR3A):c.*1862G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 300995	NM_007055.4(POLR3A):c.*1853C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 300996	NM_007055.4(POLR3A):c.*1825T>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 300997	NM_007055.4(POLR3A):c.*1782G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 300999	NM_007055.4(POLR3A):c.*1763G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301000	NM_007055.4(POLR3A):c.*1718G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301001	NM_007055.4(POLR3A):c.*1695G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301002	NM_007055.4(POLR3A):c.*1680C>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 879649	NM_007055.4(POLR3A):c.*1643C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879650	NM_007055.4(POLR3A):c.*1607G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301004	NM_007055.4(POLR3A):c.*1589G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 879651	NM_007055.4(POLR3A):c.*1585C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301005	NM_007055.4(POLR3A):c.*1569C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 879652	NM_007055.4(POLR3A):c.*1564C>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301006	NM_007055.4(POLR3A):c.*1461A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 879653	NM_007055.4(POLR3A):c.*1457G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301007	NM_007055.4(POLR3A):c.*1448A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 880017	NM_007055.4(POLR3A):c.*1342A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880018	NM_007055.4(POLR3A):c.*1341A>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880019	NM_007055.4(POLR3A):c.*1339A>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880020	NM_007055.4(POLR3A):c.*1335A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301009	NM_007055.4(POLR3A):c.*1323C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301010	NM_007055.4(POLR3A):c.*1303C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301011	NM_007055.4(POLR3A):c.*1219T>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301012	NM_007055.4(POLR3A):c.*1207T>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301013	NM_007055.4(POLR3A):c.*1159C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 877219	NM_007055.4(POLR3A):c.*1152G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 877220	NM_007055.4(POLR3A):c.*1129G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301014	NM_007055.4(POLR3A):c.*1100G>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 877221	NM_007055.4(POLR3A):c.*1097G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301015	NM_007055.4(POLR3A):c.*1015T>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 877222	NM_007055.4(POLR3A):c.*994C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301016	NM_007055.4(POLR3A):c.*989G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301017	NM_007055.4(POLR3A):c.*936T>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 878260	NM_007055.4(POLR3A):c.*923G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301018	NM_007055.4(POLR3A):c.*920T>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 878261	NM_007055.4(POLR3A):c.*910G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301019	NM_007055.4(POLR3A):c.*883T>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 878262	NM_007055.4(POLR3A):c.*818G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 301020	NM_007055.4(POLR3A):c.*813A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301021	NM_007055.4(POLR3A):c.*690C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301022	NM_007055.4(POLR3A):c.*673A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 878864	NM_007055.4(POLR3A):c.*671T>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301023	NM_007055.4(POLR3A):c.*620G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 878865	NM_007055.4(POLR3A):c.*586G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301024	NM_007055.4(POLR3A):c.*470G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 301025	NM_007055.4(POLR3A):c.*469T>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301026	NM_007055.4(POLR3A):c.*426C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 301027	NM_007055.4(POLR3A):c.*345A>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GBenign
Select item 880074	NM_007055.4(POLR3A):c.*344C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880075	NM_007055.4(POLR3A):c.*339A>G	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 880076	NM_007055.4(POLR3A):c.*308A>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 880077	NM_007055.4(POLR3A):c.*303C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301028	NM_007055.4(POLR3A):c.*272G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880078	NM_007055.4(POLR3A):c.*201G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 880079	NM_007055.4(POLR3A):c.*150G>C	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301030	NM_007055.4(POLR3A):c.*136C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 301031	NM_007055.4(POLR3A):c.*135G>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely benign
Select item 301032	NM_007055.4(POLR3A):c.*90G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877284	NM_007055.4(POLR3A):c.4129C>G (p.Leu1377Val)	POLR3A (L1377V)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301033	NM_007055.4(POLR3A):c.4024+11T>G	POLR3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301034	NM_007055.4(POLR3A):c.4002C>T (p.Phe1334=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 301035	NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 768373	NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 301036	NM_007055.4(POLR3A):c.3858C>T (p.His1286=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GConflicting classifications of pathogenicity
Select item 301037	NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GBenign/Likely benign
Select item 735051	NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GConflicting classifications of pathogenicity
Select item 878320	NM_007055.4(POLR3A):c.3787G>A (p.Ala1263Thr)	POLR3A (A1263T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878321	NM_007055.4(POLR3A):c.3786C>T (p.Ala1262=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878322	NM_007055.4(POLR3A):c.3771T>C (p.Thr1257=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 301038	NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln)	POLR3A (R1245Q)	Single nucleotide variant (missense variant)	POLR3A-related condition +2 more	GLikely benign
Select item 878323	NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln)	POLR3A (R1233Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 301040	NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GBenign/Likely benign
Select item 878905	NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys)	POLR3A (E1216K)	Single nucleotide variant (missense variant)	POLR3A-related condition +2 more	GUncertain significance
Select item 301041	NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 301042	NM_007055.4(POLR3A):c.3594+15G>A	POLR3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 301043	NM_007055.4(POLR3A):c.3594+11A>C	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GBenign
Select item 878906	NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His)	POLR3A (R1159H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 203362	NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)	POLR3A (A1146T)	Single nucleotide variant (missense variant)	POLR3A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 301044	NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 301045	NM_007055.4(POLR3A):c.3336G>A (p.Glu1112=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 301046	NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn)	LOC126860970, POLR3A (D1094N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301047	NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=)	LOC126860970, POLR3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 301048	NM_007055.4(POLR3A):c.3242+8C>G	LOC126860970, POLR3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301049	NM_007055.4(POLR3A):c.3036A>G (p.Glu1012=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GBenign/Likely benign
Select item 301050	NM_007055.4(POLR3A):c.2997G>T (p.Val999=)	POLR3A	Single nucleotide variant (synonymous variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GBenign
Select item 880127	NM_007055.4(POLR3A):c.2993G>A (p.Arg998His)	POLR3A (R998H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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