ClinVar for Gene (Select 80155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365239	NM_057175.5(NAA15):c.2426T>C (p.Leu809Ser)	NAA15 (L808S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364870	NM_057175.5(NAA15):c.2402C>A (p.Thr801Lys)	NAA15 (T800K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364253	NM_057175.5(NAA15):c.1148A>C (p.His383Pro)	NAA15 (H383P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361610	NM_057175.5(NAA15):c.49A>G (p.Ile17Val)	NAA15 (I17V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360783	NM_057175.5(NAA15):c.1270A>G (p.Ile424Val)	NAA15 (I424V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359070	NM_057175.5(NAA15):c.139+1G>A	NAA15	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 3358721	NM_057175.5(NAA15):c.2360C>T (p.Ala787Val)	NAA15 (A786V +1 more)	Single nucleotide variant (missense variant)	NAA15-related disorder	GUncertain significance
Select item 3354768	NM_057175.5(NAA15):c.825A>G (p.Glu275=)	NAA15	Single nucleotide variant (synonymous variant)	NAA15-related disorder	GLikely benign
Select item 3349884	NM_057175.5(NAA15):c.841G>T (p.Glu281Ter)	NAA15 (E281*)	Single nucleotide variant (nonsense)	NAA15-related disorder	GLikely pathogenic
Select item 3347315	NM_057175.5(NAA15):c.1300G>A (p.Ala434Thr)	NAA15 (A434T)	Single nucleotide variant (missense variant)	NAA15-related disorder	GUncertain significance
Select item 3346344	NM_057175.5(NAA15):c.370C>T (p.Gln124Ter)	NAA15 (Q124*)	Single nucleotide variant (nonsense)	NAA15-related disorder	GLikely pathogenic
Select item 3346253	NM_057175.5(NAA15):c.402+5G>A	NAA15	Single nucleotide variant (intron variant)	NAA15-related disorder	GUncertain significance
Select item 3346196	NM_057175.5(NAA15):c.791T>C (p.Leu264Ser)	NAA15 (L264S)	Single nucleotide variant (missense variant)	NAA15-related disorder	GUncertain significance
Select item 3345674	NM_057175.5(NAA15):c.2178A>C (p.Leu726Phe)	NAA15 (L725F +1 more)	Single nucleotide variant (missense variant)	NAA15-related disorder	GUncertain significance
Select item 3345444	NM_057175.5(NAA15):c.2302+1G>A	NAA15	Single nucleotide variant (splice donor variant)	NAA15-related disorder	GLikely pathogenic
Select item 3341044	NM_057175.5(NAA15):c.439C>T (p.Gln147Ter)	NAA15 (Q147*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3341040	NM_057175.5(NAA15):c.1753+1G>T	NAA15	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3340636	NM_057175.5(NAA15):c.1540-1G>A	NAA15	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3338450	GRCh37/hg19 4q31.1(chr4:140187697-140394334)x1	MGARP, NAA15 +2 more	Copy number loss	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3298257	NM_057175.5(NAA15):c.1786C>A (p.Arg596Ser)	NAA15 (R596S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298256	NM_057175.5(NAA15):c.2008A>T (p.Asn670Tyr)	NAA15 (N670Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298255	NM_057175.5(NAA15):c.2485C>T (p.His829Tyr)	NAA15 (H828Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298254	NM_057175.5(NAA15):c.691G>A (p.Gly231Arg)	NAA15 (G231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298253	NM_057175.5(NAA15):c.2101A>G (p.Ile701Val)	NAA15 (I701V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252815	NM_057175.5(NAA15):c.2144T>C (p.Leu715Pro)	NAA15 (L715P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252432	NM_057175.5(NAA15):c.2588C>T (p.Ala863Val)	NAA15 (A862V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252335	NM_057175.5(NAA15):c.1190T>G (p.Ile397Arg)	NAA15 (I397R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3251942	NM_057175.5(NAA15):c.2126A>C (p.His709Pro)	NAA15 (H709P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3246772	NC_000004.11:g.(?_140255308)_(140309238_?)del	NAA15	Deletion	not provided	GUncertain significance
Select item 3236627	NM_057175.5(NAA15):c.2341A>T (p.Lys781Ter)	NAA15 (K780* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3235722	NM_057175.5(NAA15):c.1485T>G (p.Tyr495Ter)	NAA15 (Y495*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3233810	NM_057175.5(NAA15):c.1237G>C (p.Val413Leu)	NAA15 (V413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171269	NM_057175.5(NAA15):c.973G>C (p.Val325Leu)	NAA15 (V325L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171261	NM_057175.5(NAA15):c.775G>C (p.Ala259Pro)	NAA15 (A259P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171253	NM_057175.5(NAA15):c.533A>C (p.Gln178Pro)	NAA15 (Q178P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171249	NM_057175.5(NAA15):c.394G>A (p.Gly132Ser)	NAA15 (G132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171235	NM_057175.5(NAA15):c.2338C>T (p.Gln780Ter)	NAA15 (Q779* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 3171233	NM_057175.5(NAA15):c.2333C>G (p.Ser778Cys)	NAA15 (S777C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171207	NM_057175.5(NAA15):c.1896T>G (p.Asp632Glu)	NAA15 (D632E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075959	NM_057175.5(NAA15):c.897del (p.Leu301fs)	NAA15 (L301fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 3068701	NM_057175.5(NAA15):c.2368C>G (p.Leu790Val)	NAA15 (L789V +1 more)	Single nucleotide variant (missense variant)	Syndromic intellectual disability	GUncertain significance
Select item 3068319	NM_057175.5(NAA15):c.63T>G (p.Tyr21Ter)	NAA15 (Y21*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 3066313	NM_057175.5(NAA15):c.2156-10A>G	NAA15	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 3064480	NM_057175.5(NAA15):c.395dup (p.Tyr133fs)	NAA15 (Y133fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062752	GRCh37/hg19 4q31.1(chr4:140121963-140223855)x1	MGARP, NAA15 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3061403	NM_057175.5(NAA15):c.2056G>C (p.Glu686Gln)	NAA15 (E686Q)	Single nucleotide variant (missense variant)	NAA15-related disorder	GUncertain significance
Select item 3058036	NM_057175.5(NAA15):c.1087+7C>T	NAA15	Single nucleotide variant (intron variant)	NAA15-related disorder	GLikely benign
Select item 3029588	NM_057175.5(NAA15):c.1122T>C (p.Leu374=)	NAA15	Single nucleotide variant (synonymous variant)	NAA15-related disorder	GLikely benign
Select item 3026688	NM_057175.5(NAA15):c.20C>T (p.Pro7Leu)	NAA15, NDUFC1 (P7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3020619	NM_057175.5(NAA15):c.1174A>G (p.Ile392Val)	NAA15 (I392V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018529	NM_057175.5(NAA15):c.246T>C (p.Cys82=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017888	NM_057175.5(NAA15):c.1991T>G (p.Leu664Trp)	NAA15 (L664W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015494	NM_057175.5(NAA15):c.787G>A (p.Gly263Ser)	NAA15 (G263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015444	NM_057175.5(NAA15):c.2401-10C>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012987	NM_057175.5(NAA15):c.1683T>C (p.Ala561=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010665	NM_057175.5(NAA15):c.753A>T (p.Gln251His)	NAA15 (Q251H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006078	NM_057175.5(NAA15):c.1841A>C (p.Asn614Thr)	NAA15 (N614T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005157	NM_057175.5(NAA15):c.1285A>T (p.Arg429Trp)	NAA15 (R429W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003840	NM_057175.5(NAA15):c.1941G>T (p.Leu647=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995859	NM_057175.5(NAA15):c.2380C>T (p.Leu794Phe)	NAA15 (L793F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992653	NM_057175.5(NAA15):c.438G>A (p.Ala146=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986650	NM_057175.5(NAA15):c.1257+9C>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984400	NM_057175.5(NAA15):c.601C>T (p.Arg201Trp)	NAA15 (R201W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981986	NM_057175.5(NAA15):c.538-8A>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981737	NM_057175.5(NAA15):c.1390A>T (p.Met464Leu)	NAA15 (M464L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977084	NM_057175.5(NAA15):c.1754-18_1754-15del	NAA15	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2975705	NM_057175.5(NAA15):c.414T>C (p.Tyr138=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974698	NM_057175.5(NAA15):c.2056+18A>C	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972296	NM_057175.5(NAA15):c.208C>T (p.Arg70Cys)	NAA15 (R70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971965	NM_057175.5(NAA15):c.2056+18A>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969823	NM_057175.5(NAA15):c.1015-14T>C	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969314	NM_057175.5(NAA15):c.537+17A>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969305	NM_057175.5(NAA15):c.402+13_402+16del	NAA15	Deletion (intron variant)	not provided	GLikely benign
Select item 2969050	NM_057175.5(NAA15):c.641G>T (p.Cys214Phe)	NAA15 (C214F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968945	NM_057175.5(NAA15):c.402+26_402+27del	NAA15	Deletion (intron variant)	not provided	GBenign
Select item 2965021	NM_057175.5(NAA15):c.1218A>G (p.Thr406=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964593	NM_057175.5(NAA15):c.2258C>A (p.Thr753Asn)	NAA15 (T753N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962239	NM_057175.5(NAA15):c.2002G>T (p.Val668Leu)	NAA15 (V668L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960409	NM_057175.5(NAA15):c.1410+9A>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955152	NM_057175.5(NAA15):c.716G>A (p.Arg239His)	NAA15 (R239H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915408	NM_057175.5(NAA15):c.826C>T (p.Arg276Trp)	NAA15 (R276W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914422	NM_057175.5(NAA15):c.1189A>G (p.Ile397Val)	NAA15 (I397V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906639	NM_057175.5(NAA15):c.2386A>G (p.Asn796Asp)	NAA15 (N795D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2899815	NM_057175.5(NAA15):c.1236C>T (p.Leu412=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893126	NM_057175.5(NAA15):c.1470A>G (p.Glu490=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892797	NM_057175.5(NAA15):c.231G>A (p.Leu77=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2889739	NM_057175.5(NAA15):c.522T>C (p.Phe174=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887551	NM_057175.5(NAA15):c.476A>G (p.His159Arg)	NAA15 (H159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884307	NM_057175.5(NAA15):c.411G>A (p.Arg137=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881501	NM_057175.5(NAA15):c.2384C>G (p.Thr795Ser)	NAA15 (T794S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877763	NM_057175.5(NAA15):c.2412G>A (p.Glu804=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2872734	NM_057175.5(NAA15):c.2328T>A (p.Asp776Glu)	NAA15 (D776E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870191	NM_057175.5(NAA15):c.1200T>C (p.Ala400=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863312	NM_057175.5(NAA15):c.1684A>G (p.Ile562Val)	NAA15 (I562V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854718	NM_057175.5(NAA15):c.194C>T (p.Ala65Val)	NAA15 (A65V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854493	NM_057175.5(NAA15):c.105A>G (p.Gln35=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846313	NM_057175.5(NAA15):c.890C>T (p.Pro297Leu)	NAA15 (P297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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