11128[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 57888	GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3	DLG5, DLG5-AS1 +17 more	Copy number gain	See cases	GUncertain significance
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 300998	NM_007055.4(POLR3A):c.1771_1780del	POLR3A	Deletion (3 prime UTR variant)	Pol III-related leukodystrophy	GUncertain significance
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 301003	NM_007055.4(POLR3A):c.*1640del	POLR3A	Deletion (3 prime UTR variant)	Pol III-related leukodystrophy	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 301008	NM_007055.4(POLR3A):c.*1342del	POLR3A	Deletion (3 prime UTR variant)	Pol III-related leukodystrophy	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 301029	NM_007055.4(POLR3A):c.*272G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	Pol III-related leukodystrophy	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 549564	NM_007055.4(POLR3A):c.*18C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2102084	NM_007055.4(POLR3A):c.4171T>C (p.Ter1391Gln)	POLR3A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1503101	NM_007055.4(POLR3A):c.4169C>T (p.Thr1390Ile)	POLR3A (T1390I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757585	NM_007055.4(POLR3A):c.4158C>T (p.Ile1386=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367859	NM_007055.4(POLR3A):c.4149A>T (p.Glu1383Asp)	POLR3A (E1383D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016845	NM_007055.4(POLR3A):c.4146T>C (p.Asn1382=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463383	NM_007055.4(POLR3A):c.4141A>G (p.Thr1381Ala)	POLR3A (T1381A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948108	NM_007055.4(POLR3A):c.4138G>A (p.Asp1380Asn)	POLR3A (D1380N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879467	NM_007055.4(POLR3A):c.4137C>T (p.Phe1379=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 871402	NM_007055.4(POLR3A):c.4126C>T (p.Pro1376Ser)	POLR3A (P1376S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727161	NM_007055.4(POLR3A):c.4126C>A (p.Pro1376Thr)	POLR3A (P1376T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 871403	NM_007055.4(POLR3A):c.4125G>T (p.Arg1375Ser)	POLR3A (R1375S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015762	NM_007055.4(POLR3A):c.4110G>T (p.Pro1370=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942703	NM_007055.4(POLR3A):c.4110G>A (p.Pro1370=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003921	NM_007055.4(POLR3A):c.4107C>A (p.Asp1369Glu)	POLR3A (D1369E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549364	NM_007055.4(POLR3A):c.4101C>T (p.Asp1367=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045049	NM_007055.4(POLR3A):c.4083G>A (p.Lys1361=)	POLR3A	Single nucleotide variant (synonymous variant)	POLR3A-related condition	GLikely benign
Select item 2130911	NM_007055.4(POLR3A):c.4079T>C (p.Phe1360Ser)	POLR3A (F1360S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027475	NM_007055.4(POLR3A):c.4073G>A (p.Gly1358Glu)	POLR3A (G1358E)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 709980	NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=)	POLR3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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