Related gene-specific medical variations for Gene (Select 80224) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065262	NM_025152.3(NUBPL):c.468G>T (p.Trp156Cys)	NUBPL (W156C +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 2685481	GRCh37/hg19 14q12(chr14:32023559-32313036)x1	NUBPL	Copy number loss	not provided	GUncertain significance
Select item 2434463	NM_025152.3(NUBPL):c.514-19835C>A	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 2434462	NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)	NUBPL (L103* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 2434461	NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)	NUBPL (N129S +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 980480	GRCh37/hg19 14q12(chr14:31960362-32248251)x1	NUBPL	Copy number loss	not provided	GUncertain significance
Select item 931860	NM_025152.3(NUBPL):c.591_595del (p.Gln197fs)	NUBPL (Q197fs +2 more)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 689046	GRCh37/hg19 14q12(chr14:32143670-32244294)x3	NUBPL	Copy number gain	not provided	GUncertain significance
Select item 685158	GRCh37/hg19 14q12(chr14:32117154-32214183)x1	NUBPL	Copy number loss	not provided	GPathogenic
Select item 564114	GRCh37/hg19 14q12(chr14:32079222-32447963)x1	NUBPL	Copy number loss	not provided	GUncertain significance