"NUBPL-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313018	NM_025152.3(NUBPL):c.-7C>T	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	NUBPL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 282798	NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)	NUBPL (G26V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1935073	NM_025152.3(NUBPL):c.201A>G (p.Lys67=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1438457	NM_025152.3(NUBPL):c.256+6A>G	NUBPL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1499180	NM_025152.3(NUBPL):c.298G>A (p.Ala100Thr)	NUBPL (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 214874	NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)	NUBPL (V182A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214875	NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr)	NUBPL (N198T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 741088	NM_025152.3(NUBPL):c.627G>A (p.Thr209=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 313029	NM_025152.3(NUBPL):c.639C>T (p.Ile213=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	NUBPL-related disorder +2 more	GConflicting classifications of pathogenicity