C2676243[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034346	NM_007055.4(POLR3A):c.4012G>A (p.Asp1338Asn)	POLR3A (D1338N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 3238764	NM_007055.4(POLR3A):c.3893G>T (p.Gly1298Val)	POLR3A (G1298V)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
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 1030186	NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)	POLR3A (R1245*)	Single nucleotide variant (nonsense)	Leukodystrophy +1 more	GPathogenic
Select item 1030185	NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro)	POLR3A (L1226P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030184	NM_007055.4(POLR3A):c.3283G>A (p.Ala1095Thr)	LOC126860970, POLR3A (A1095T)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1030182	NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn)	POLR3A (D896N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030181	NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn)	POLR3A (K831N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1029126	NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln)	POLR3A (R808Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1029125	NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)	POLR3A (G784S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1034345	NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs)	POLR3A (N775fs)	Deletion (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GPathogenic
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 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 1034344	NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe)	POLR3A (V342F)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1030187	NM_007055.4(POLR3A):c.577T>A (p.Phe193Ile)	POLR3A (F193I)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 1029124	NM_007055.4(POLR3A):c.-15C>T	POLR3A	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GUncertain significance
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	See cases +7 more	GConflicting classifications of pathogenicity
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GPathogenic/Likely pathogenic