"Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 549563	NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs)	POLR3A (L1258fs)	Microsatellite (frameshift variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549572	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)	POLR3A (K1131R)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GConflicting classifications of pathogenicity
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)	LOC126860970, POLR3A (R1069Q)	Single nucleotide variant (missense variant)	Leukodystrophy +2 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 31146	NM_007055.4(POLR3A):c.2617-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukodystrophy +2 more	GPathogenic/Likely 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 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	Pol III-related leukodystrophy +8 more	GPathogenic/Likely pathogenic
Select item 31144	NM_007055.4(POLR3A):c.1909+18G>A	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GPathogenic/Likely 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 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 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