ClinVar for MedGen (Select 140806) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062284	NM_007055.4(POLR3A):c.2616+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GLikely pathogenic
Select item 1341525	NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs)	POLR3A (Q349fs)	Deletion (frameshift variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GLikely pathogenic
Select item 1184057	NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys)	POLR3A (E1261K)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1027476	NM_007055.4(POLR3A):c.3839dup (p.Met1280fs)	POLR3A (M1280fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 931424	NM_007055.4(POLR3A):c.2988+18C>T	POLR3A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930459	NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser)	POLR3A (N661S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805934	NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GPathogenic
Select item 619038	NM_007055.4(POLR3A):c.3243-2A>G	LOC126860970, POLR3A	Single nucleotide variant (splice acceptor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GPathogenic
Select item 619037	NM_007055.4(POLR3A):c.1572+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GPathogenic/Likely pathogenic
Select item 619036	NM_007055.4(POLR3A):c.490+1G>A	LOC126860971, POLR3A	Single nucleotide variant (splice donor variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GPathogenic
Select item 617894	NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	POLR3A (R254*)	Single nucleotide variant (nonsense)	POLR3-related leukodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 617893	NM_007055.4(POLR3A):c.3337-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 617891	NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)	POLR3A (R669*)	Single nucleotide variant (nonsense)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GPathogenic
Select item 549572	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)	POLR3A (K1131R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 549571	NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)	POLR3A (D1292N)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549570	NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)	POLR3A (G1335R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549566	NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)	POLR3A (G903R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549565	NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	POLR3A (M1I)	Single nucleotide variant (missense variant +1 more)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549564	NM_007055.4(POLR3A):c.*18C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549563	NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs)	POLR3A (L1258fs)	Microsatellite (frameshift variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549562	NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)	POLR3A	Single nucleotide variant (synonymous variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549561	NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)	POLR3A (S825*)	Single nucleotide variant (nonsense)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549560	NM_007055.4(POLR3A):c.1048+5G>T	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549559	NM_007055.4(POLR3A):c.3337-11T>C	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 549558	NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)	POLR3A, LOC126860970 (R1069Q)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GConflicting classifications of pathogenicity
Select item 449556	NM_007055.4(POLR3A):c.1771-7C>G	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +4 more	GPathogenic/Likely pathogenic
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +7 more	GPathogenic/Likely pathogenic
Select item 432594	NM_007055.4(POLR3A):c.3337-5T>A	POLR3A	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 301068	NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met)	POLR3A (K575M)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GBenign/Likely benign
Select item 235466	NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)	POLR3A (R873*)	Single nucleotide variant (nonsense)	POLR3A-related disorder +2 more	GPathogenic
Select item 211930	NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)	POLR3A (I980V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 130000	NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)	POLR3A (R582L)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GBenign/Likely benign
Select item 31149	NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)	POLR3A (R1005C)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GPathogenic/Likely pathogenic
Select item 31146	NM_007055.4(POLR3A):c.2617-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +3 more	GPathogenic/Likely pathogenic
Select item 31144	NM_007055.4(POLR3A):c.1909+18G>A	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GPathogenic/Likely pathogenic

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Items: 36