"OMIM"[submitter] AND "NAXD"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703005	NC_000013.11:g.110615008_110622534del	LOC130010118, LOC130010119 +4 more	Deletion	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 978059	NM_001242882.2(NAXD):c.44del (p.Arg15fs)	NAXD, NAXD-AS1 (R15fs +1 more)	Deletion (5 prime UTR variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 1031247	NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	NAXD, NAXD-AS1 (V16I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
Select item 617759	NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	NAXD (A20fs +1 more)	Deletion (frameshift variant +2 more)	NAXD-related condition +2 more	GPathogenic
Select item 1703003	NM_001242882.2(NAXD):c.102_103del (p.Thr35fs)	NAXD (T35fs +1 more)	Deletion (frameshift variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 617758	NM_001242882.2(NAXD):c.187G>A (p.Gly63Ser)	NAXD (G63S +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 1703002	NM_001242882.2(NAXD):c.318C>G (p.Ile106Met)	NAXD (I106M +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 617756	NM_001242882.2(NAXD):c.839+1G>T	NAXD	Single nucleotide variant (splice donor variant)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 617755	NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)	NAXD (R308C +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 617757	NM_001242882.2(NAXD):c.948_949insTT (p.Ala317fs)	NAXD (A225fs +3 more)	Insertion (frameshift variant +1 more)	NAD(P)HX dehydratase deficiency	GPathogenic