ClinVar for MedGen (Select 1681210) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341304	NM_001242882.2(NAXD):c.514C>T (p.Gln172Ter)	NAXD (Q172* +2 more)	Single nucleotide variant (nonsense +1 more)	NAD(P)HX dehydratase deficiency	GLikely pathogenic
Select item 3256536	NM_001242882.2(NAXD):c.269G>T (p.Cys90Phe)	NAXD (C108F +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
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 2444094	NM_001242882.2(NAXD):c.442-1G>A	NAXD	Single nucleotide variant (splice acceptor variant)	NAD(P)HX dehydratase deficiency	GLikely pathogenic
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 1906889	NM_001242882.2(NAXD):c.794_798dup (p.Val267fs)	NAXD (V285fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1878595	NM_001242882.2(NAXD):c.591C>G (p.Asp197Glu)	NAXD (D105E +2 more)	Single nucleotide variant (missense variant +1 more)	NAD(P)HX dehydratase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1703005	NC_000013.11:g.110615008_110622534del	LOC130010118, LOC130010119 +4 more	Deletion	NAD(P)HX dehydratase deficiency	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 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 1699273	NM_001242882.2(NAXD):c.441+3A>G	NAXD	Single nucleotide variant (intron variant)	NAD(P)HX dehydratase deficiency	GLikely pathogenic
Select item 1683695	NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter)	NAXD (Q147* +2 more)	Single nucleotide variant (nonsense +1 more)	NAD(P)HX dehydratase deficiency	GLikely pathogenic
Select item 1644883	NM_001242882.2(NAXD):c.102T>A (p.Asn34Lys)	NAXD (N34K +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency +1 more	GBenign/Likely benign
Select item 1575446	NM_001242882.2(NAXD):c.521C>T (p.Pro174Leu)	NAXD (P174L +2 more)	Single nucleotide variant (missense variant +1 more)	NAD(P)HX dehydratase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1362727	NM_001242882.2(NAXD):c.671C>T (p.Thr224Met)	NAXD (T224M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1165146	NM_001242882.2(NAXD):c.840-58C>T	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1031246	NM_001242882.2(NAXD):c.923G>A (p.Arg308His)	NAXD (R308H +2 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
Select item 1031245	NM_001242882.2(NAXD):c.181G>C (p.Val61Leu)	NAXD (V61L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	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
Select item 617759	NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	NAXD (A20fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	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 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
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)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 25