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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	NAXD-related condition +1 more	GBenign
Select item 1657361	NM_001242882.2(NAXD):c.46+69G>C	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	NAXD-related condition +1 more	GBenign/Likely benign
Select item 1920119	NM_001242882.2(NAXD):c.46+93C>T	NAXD, NAXD-AS1	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1501052	NM_001242882.2(NAXD):c.46+94G>A	NAXD, NAXD-AS1 (A23T)	Single nucleotide variant (intron variant +1 more)	not provided	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 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 1571970	NM_001242882.2(NAXD):c.46+114G>A	LOC130010118, NAXD +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1992109	NM_001242882.2(NAXD):c.46+124G>A	LOC130010118, NAXD +1 more (A33T)	Single nucleotide variant (intron variant +1 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 1978687	NM_001242882.2(NAXD):c.46+145G>C	LOC130010118, NAXD +1 more	Single nucleotide variant (intron variant)	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 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 1635825	NM_001242882.2(NAXD):c.60G>A (p.Ala20=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely 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 2061243	NM_001242882.2(NAXD):c.66G>T (p.Ser22=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1431935	NM_001242882.2(NAXD):c.70C>A (p.Arg24Ser)	NAXD (R24S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1375660	NM_001242882.2(NAXD):c.71G>C (p.Arg24Pro)	NAXD (R42P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 +2 more	GBenign/Likely benign
Select item 1349364	NM_001242882.2(NAXD):c.133C>T (p.Pro45Ser)	NAXD (P45S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1670248	NM_001242882.2(NAXD):c.141T>C (p.Ser47=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related condition +1 more	GBenign/Likely benign
Select item 1474459	NM_001242882.2(NAXD):c.158G>C (p.Gly53Ala)	NAXD (G71A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1957708	NM_001242882.2(NAXD):c.177C>T (p.Gly59=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1031245	NM_001242882.2(NAXD):c.181G>C (p.Val61Leu)	NAXD (V61L +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency +1 more	GUncertain significance
Select item 1660557	NM_001242882.2(NAXD):c.198-19_198-18del	NAXD	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1617204	NM_001242882.2(NAXD):c.243+11T>G	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964188	NM_001242882.2(NAXD):c.243+20_243+23del	NAXD	Deletion (intron variant)	not provided	GLikely benign
Select item 1599200	NM_001242882.2(NAXD):c.243+19_243+23del	NAXD	Deletion (intron variant)	not provided	GBenign
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 1380023	NM_001242882.2(NAXD):c.278C>T (p.Ala93Val)	NAXD (A111V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1056133	NM_001242882.2(NAXD):c.279G>A (p.Ala93=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	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 1475253	NM_001242882.2(NAXD):c.307C>T (p.Pro103Ser)	NAXD (P103S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1037710	NM_001242882.2(NAXD):c.308C>T (p.Pro103Leu)	NAXD (P121L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2043621	NM_001242882.2(NAXD):c.319G>A (p.Val107Ile)	NAXD (V107I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1987391	NM_001242882.2(NAXD):c.332+17C>G	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908023	NM_001242882.2(NAXD):c.332+17C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1584859	NM_001242882.2(NAXD):c.332+18G>A	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572939	NM_001242882.2(NAXD):c.333-10C>G	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1048939	NM_001242882.2(NAXD):c.344A>G (p.Asn115Ser)	NAXD (N115S +2 more)	Single nucleotide variant (missense variant +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 1577481	NM_001242882.2(NAXD):c.363G>A (p.Glu121=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1165626	NM_001242882.2(NAXD):c.364A>G (p.Lys122Glu)	NAXD (K122E +2 more)	Single nucleotide variant (missense variant +1 more)	NAXD-related condition +1 more	GBenign
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 1534881	NM_001242882.2(NAXD):c.376C>T (p.Arg126Trp)	NAXD (R126W +2 more)	Single nucleotide variant (missense 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 1169630	NM_001242882.2(NAXD):c.391G>A (p.Val131Ile)	NAXD (V131I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 2190306	NM_001242882.2(NAXD):c.422C>G (p.Ala141Gly)	NAXD (A141G +2 more)	Single nucleotide variant (non-coding transcript 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 2024675	NM_001242882.2(NAXD):c.442-2A>G	NAXD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1508572	NM_001242882.2(NAXD):c.445A>G (p.Ile149Val)	NAXD (I57V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1542921	NM_001242882.2(NAXD):c.471C>T (p.Asp157=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1170922	NM_001242882.2(NAXD):c.489C>T (p.Asp163=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related condition +1 more	GBenign
Select item 2122220	NM_001242882.2(NAXD):c.492+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 1990356	NM_001242882.2(NAXD):c.493-15C>T	NAXD	Single nucleotide variant (intron variant)	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 2066215	NM_001242882.2(NAXD):c.493-6G>T	NAXD	Single nucleotide variant (intron variant)	not provided	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 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 1589545	NM_001242882.2(NAXD):c.510C>T (p.Val170=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1575446	NM_001242882.2(NAXD):c.521C>T (p.Pro174Leu)	NAXD (P174L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1655715	NM_001242882.2(NAXD):c.522G>A (p.Pro174=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related condition +1 more	GLikely benign
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 1377901	NM_001242882.2(NAXD):c.541C>G (p.Arg181Gly)	NAXD (R199G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166488	NM_001242882.2(NAXD):c.541C>T (p.Arg181Trp)	NAXD (R181W +2 more)	Single nucleotide variant (missense variant +1 more)	NAXD-related condition +1 more	GBenign/Likely benign
Select item 1878595	NM_001242882.2(NAXD):c.591C>G (p.Asp197Glu)	NAXD (D105E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1633275	NM_001242882.2(NAXD):c.597+15C>A	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631720	NM_001242882.2(NAXD):c.597+19del	NAXD	Deletion (intron variant)	not provided	GBenign
Select item 2076230	NM_001242882.2(NAXD):c.598-7G>C	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592907	NM_001242882.2(NAXD):c.606C>T (p.Gly202=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1348643	NM_001242882.2(NAXD):c.610A>G (p.Met204Val)	NAXD (M222V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 2154194	NM_001242882.2(NAXD):c.651C>T (p.Ser217=)	NAXD	Single nucleotide variant (synonymous variant +1 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 2057278	NM_001242882.2(NAXD):c.666C>T (p.Asn222=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1164878	NM_001242882.2(NAXD):c.708C>T (p.Asn236=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	NAXD-related condition +1 more	GBenign
Select item 1618105	NM_001242882.2(NAXD):c.718+10G>A	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1905485	NM_001242882.2(NAXD):c.718+17C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2736806	NM_001242882.2(NAXD):c.720G>A (p.Val240=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1354903	NM_001242882.2(NAXD):c.770A>G (p.Asp257Gly)	NAXD (D165G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419106	NM_001242882.2(NAXD):c.779C>T (p.Ser260Leu)	NAXD (S168L +2 more)	Single nucleotide variant (non-coding transcript 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)	NAD(P)HX dehydratase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1574063	NM_001242882.2(NAXD):c.792C>T (p.Gly264=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1437575	NM_001242882.2(NAXD):c.793G>A (p.Val265Ile)	NAXD (V265I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483134	NM_001242882.2(NAXD):c.809dup (p.Leu271fs)	NAXD (L271fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1585837	NM_001242882.2(NAXD):c.810G>A (p.Ala270=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1594110	NM_001242882.2(NAXD):c.813C>T (p.Leu271=)	NAXD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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