ClinVar for Gene (Select 55739) - ClinVar - NCBI

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	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 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3177688	NM_001242882.2(NAXD):c.749G>A (p.Arg250His)	NAXD (R158H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3055073	NM_001242882.2(NAXD):c.303C>T (p.Tyr101=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder	GLikely benign
Select item 3052579	NM_001242882.2(NAXD):c.591C>T (p.Asp197=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related disorder	GLikely benign
Select item 3029580	NM_001242882.2(NAXD):c.69A>G (p.Leu23=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder	GLikely benign
Select item 2999516	NM_001242882.2(NAXD):c.493-4G>A	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985773	NM_001242882.2(NAXD):c.285A>G (p.Ala95=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2978561	NM_001242882.2(NAXD):c.65C>T (p.Ser22Leu)	NAXD (S22L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2974058	NM_001242882.2(NAXD):c.719-20C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971646	NM_001242882.2(NAXD):c.719-18C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960951	NM_001242882.2(NAXD):c.366G>A (p.Lys122=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2916160	NM_001242882.2(NAXD):c.384T>C (p.His128=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2736806	NM_001242882.2(NAXD):c.720G>A (p.Val240=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2701177	NM_001242882.2(NAXD):c.654A>C (p.Gln218His)	NAXD (Q126H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2701176	NM_001242882.2(NAXD):c.624C>T (p.Asp208=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2643957	NM_001242882.2(NAXD):c.840-130A>T	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
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 2426830	NC_000013.10:g.(?_111286872)_(111319840_?)dup	CARS2, NAXD	Duplication	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2426457	NC_000013.10:g.(?_111268022)_(111274733_?)del	NAXD	Deletion	not provided	GPathogenic
Select item 2424255	NC_000013.10:g.(?_110959271)_(111279914_?)dup	COL4A1, COL4A2 +2 more	Duplication	not provided	GUncertain significance
Select item 2419106	NM_001242882.2(NAXD):c.779C>T (p.Ser260Leu)	NAXD (S168L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393929	NM_001242882.2(NAXD):c.70C>T (p.Arg24Cys)	NAXD (R24C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367816	NM_001242882.2(NAXD):c.840-8C>T	NAXD (S341F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249122	NM_001242882.2(NAXD):c.71G>T (p.Arg24Leu)	NAXD (R42L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2233635	NM_001242882.2(NAXD):c.840-48A>C	NAXD (T328P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2229560	NM_001242882.2(NAXD):c.840-41C>T	NAXD (T330M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227725	NM_001242882.2(NAXD):c.511G>A (p.Ala171Thr)	NAXD (A171T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226584	NM_001242882.2(NAXD):c.535G>A (p.Gly179Ser)	NAXD (G179S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204341	NM_001242882.2(NAXD):c.964G>A (p.Ala322Thr)	NAXD (A230T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2190306	NM_001242882.2(NAXD):c.422C>G (p.Ala141Gly)	NAXD (A141G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177388	NM_001242882.2(NAXD):c.861C>T (p.Ala287=)	NAXD (R351C)	Single nucleotide variant (synonymous variant +2 more)	not provided	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 2157065	NM_001242882.2(NAXD):c.840-36A>G	NAXD (T332A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2154194	NM_001242882.2(NAXD):c.651C>T (p.Ser217=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132656	NM_001242882.2(NAXD):c.840-27C>T	NAXD (H335Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2129066	NM_001242882.2(NAXD):c.742A>G (p.Ser248Gly)	NAXD (S156G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122220	NM_001242882.2(NAXD):c.492+17C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2106135	NM_001242882.2(NAXD):c.840-132AT[3]	NAXD (S301fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2102568	NM_001242882.2(NAXD):c.697A>G (p.Ile233Val)	NAXD (I233V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2087647	NM_001242882.2(NAXD):c.840-87G>A	NAXD (G315R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086783	NM_001242882.2(NAXD):c.840-64T>C	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2076230	NM_001242882.2(NAXD):c.598-7G>C	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075518	NM_001242882.2(NAXD):c.164A>G (p.Asp55Gly)	NAXD (D73G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2071575	NM_001242882.2(NAXD):c.394G>A (p.Val132Ile)	NAXD (V150I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069665	NM_001242882.2(NAXD):c.629A>G (p.His210Arg)	NAXD (H118R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066215	NM_001242882.2(NAXD):c.493-6G>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064762	NM_001242882.2(NAXD):c.318C>T (p.Ile106=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2061243	NM_001242882.2(NAXD):c.66G>T (p.Ser22=)	NAXD	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2057914	NM_001242882.2(NAXD):c.493-7T>G	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2057894	NM_001242882.2(NAXD):c.840-40G>A	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2057278	NM_001242882.2(NAXD):c.666C>T (p.Asn222=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2045409	NM_001242882.2(NAXD):c.508G>A (p.Val170Ile)	NAXD (V188I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043621	NM_001242882.2(NAXD):c.319G>A (p.Val107Ile)	NAXD (V107I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2024675	NM_001242882.2(NAXD):c.442-2A>G	NAXD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2023438	NM_001242882.2(NAXD):c.542_565del (p.Arg181_Asn188del)	NAXD	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2007086	NM_001242882.2(NAXD):c.358G>A (p.Val120Met)	NAXD (V28M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997101	NM_001242882.2(NAXD):c.439C>T (p.Gln147Ter)	NAXD (Q165* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1990356	NM_001242882.2(NAXD):c.493-15C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987391	NM_001242882.2(NAXD):c.332+17C>G	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1985662	NM_001242882.2(NAXD):c.838G>A (p.Gly280Arg)	NAXD (G280R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1983941	NM_001242882.2(NAXD):c.178G>A (p.Val60Ile)	NAXD (V78I +1 more)	Single nucleotide variant (missense variant +2 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 1971066	NM_001242882.2(NAXD):c.906C>T (p.Ala302=)	NAXD (L366F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1966571	NM_001242882.2(NAXD):c.650G>C (p.Ser217Thr)	NAXD (S235T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964188	NM_001242882.2(NAXD):c.243+20_243+23del	NAXD	Deletion (intron variant)	not provided	GLikely benign
Select item 1957708	NM_001242882.2(NAXD):c.177C>T (p.Gly59=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	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 1910183	NM_001242882.2(NAXD):c.940G>A (p.Asp314Asn)	NAXD (D222N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908023	NM_001242882.2(NAXD):c.332+17C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906948	NM_001242882.2(NAXD):c.667G>A (p.Val223Met)	NAXD (V223M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1905485	NM_001242882.2(NAXD):c.718+17C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900429	NM_001242882.2(NAXD):c.492+20C>A	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899173	NM_001242882.2(NAXD):c.246C>T (p.Gly82=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1713617	NM_001242882.2(NAXD):c.840-18C>G	NAXD (L338V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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