Related gene-specific medical variations for Gene (Select 55739) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065704	NM_001242882.2(NAXD):c.862G>A (p.Ala288Thr)	NAXD (A196T +3 more)	Single nucleotide variant (missense variant +1 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
Select item 2721679	NM_001242882.2(NAXD):c.46+99C>T	NAXD, NAXD-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2434040	NM_001242882.2(NAXD):c.736G>A (p.Glu246Lys)	NAXD (E154K +2 more)	Single nucleotide variant (missense variant +1 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
Select item 2232059	NM_001242882.2(NAXD):c.35C>T (p.Ala12Val)	NAXD, NAXD-AS1 (A12V)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance
Select item 2170823	NM_001242882.2(NAXD):c.46+125C>T	LOC130010118, NAXD +1 more (A33V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111581	NM_001242882.2(NAXD):c.46+101C>G	NAXD, NAXD-AS1 (A25G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992109	NM_001242882.2(NAXD):c.46+124G>A	LOC130010118, NAXD +1 more (A33T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978687	NM_001242882.2(NAXD):c.46+145G>C	LOC130010118, NAXD +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920119	NM_001242882.2(NAXD):c.46+93C>T	NAXD, NAXD-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1657361	NM_001242882.2(NAXD):c.46+69G>C	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1571970	NM_001242882.2(NAXD):c.46+114G>A	LOC130010118, NAXD +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1567427	NM_001242882.2(NAXD):c.46+147C>T	LOC130010118, NAXD +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1501052	NM_001242882.2(NAXD):c.46+94G>A	NAXD, NAXD-AS1 (A23T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1423940	NM_001242882.2(NAXD):c.46+39C>T	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1165481	NM_001242882.2(NAXD):c.46+66C>T	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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