30782[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 60200	GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1	ELF2, LINC00498 +48 more	Copy number loss	See cases	GUncertain significance
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 145883	GRCh38/hg38 4q31.1(chr4:139222611-139390389)x3	LOC126807166, LOC129993105 +5 more	Copy number gain	See cases	GLikely benign
Select item 1265947	NM_001184989.2(NDUFC1):c.-222+1199C>T	NAA15, NDUFC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1263855	NM_001184989.2(NDUFC1):c.-222+1090A>G	NAA15, NDUFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182664	NM_001184989.2(NDUFC1):c.-222+1033T>C	NDUFC1, NAA15	Single nucleotide variant (intron variant)	not provided	GBenign
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 1326516	NM_057175.5(NAA15):c.25A>G (p.Lys9Glu)	NAA15, NDUFC1 (K9E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020770	NM_057175.5(NAA15):c.28G>T (p.Glu10Ter)	NAA15, NDUFC1 (E10*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1300558	NM_057175.5(NAA15):c.46C>G (p.Arg16Gly)	NAA15, NDUFC1 (R16G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2577991	NM_057175.5(NAA15):c.54+1_54+2del	NAA15, NDUFC1	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1903314	NM_001184989.2(NDUFC1):c.-222+569G>A	NAA15, NDUFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696542	NM_057175.5(NAA15):c.55-2863G>C	NAA15	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 1556275	NM_057175.5(NAA15):c.55-17C>G	NAA15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2005791	NM_057175.5(NAA15):c.55-10G>A	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977387	NM_057175.5(NAA15):c.55-2A>C	NAA15	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 50 +3 more	GLikely pathogenic
Select item 2203215	NM_057175.5(NAA15):c.72A>G (p.Lys24=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701257	NM_057175.5(NAA15):c.75G>A (p.Gln25=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663314	NM_057175.5(NAA15):c.85G>T (p.Gly29Ter)	NAA15 (G29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662891	NM_057175.5(NAA15):c.98G>A (p.Cys33Tyr)	NAA15 (C33Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 641161	NM_057175.5(NAA15):c.103C>T (p.Gln35Ter)	NAA15 (Q35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2854493	NM_057175.5(NAA15):c.105A>G (p.Gln35=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254431	NM_057175.5(NAA15):c.134A>G (p.His45Arg)	NAA15 (H45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1709505	NM_057175.5(NAA15):c.139_139+1dup	NAA15	Duplication (splice donor variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 2161320	NM_057175.5(NAA15):c.139+7G>A	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896030	NM_057175.5(NAA15):c.139+16T>A	NAA15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296802	NM_057175.5(NAA15):c.139+238del	NAA15	Deletion (intron variant)	not provided	GBenign
Select item 2032790	NM_057175.5(NAA15):c.140-9_140-3del	NAA15	Deletion (intron variant)	not provided	GLikely benign
Select item 1321282	NM_057175.5(NAA15):c.143C>A (p.Thr48Asn)	NAA15 (T48N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 559845	NM_057175.5(NAA15):c.163del (p.Thr55fs)	NAA15 (T55fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 1927734	NM_057175.5(NAA15):c.166T>C (p.Leu56=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985874	NM_057175.5(NAA15):c.168_169del (p.Asn57fs)	NAA15 (N57fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2598802	NM_057175.5(NAA15):c.182A>G (p.Lys61Arg)	NAA15 (K61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2972296	NM_057175.5(NAA15):c.208C>T (p.Arg70Cys)	NAA15 (R70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302259	NM_057175.5(NAA15):c.209G>A (p.Arg70His)	NAA15 (R70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064826	NM_057175.5(NAA15):c.218T>C (p.Leu73Ser)	NAA15 (L73S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1703067	NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)	NAA15 (L73F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 2120907	NM_057175.5(NAA15):c.225T>C (p.Asn75=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 446520	NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)	NAA15 (D76fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 50 +1 more	GPathogenic
Select item 1343137	NM_057175.5(NAA15):c.231dup (p.Lys78fs)	NAA15 (K78fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 2892797	NM_057175.5(NAA15):c.231G>A (p.Leu77=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1033027	NM_057175.5(NAA15):c.233A>G (p.Lys78Arg)	NAA15 (K78R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 2504072	NM_057175.5(NAA15):c.238_239insG (p.His80fs)	NAA15 (H80fs)	Insertion (frameshift variant)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 559844	NM_057175.5(NAA15):c.239_240del (p.His80fs)	NAA15 (H80fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2762020	NM_057175.5(NAA15):c.245-20C>T	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571967	NM_057175.5(NAA15):c.245G>A (p.Cys82Tyr)	NAA15 (C82Y)	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 1985397	NM_057175.5(NAA15):c.252C>T (p.His84=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067009	NM_057175.5(NAA15):c.258T>C (p.Tyr86=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788727	NM_057175.5(NAA15):c.260G>A (p.Gly87Asp)	NAA15 (G87D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258534	NM_057175.5(NAA15):c.261C>A (p.Gly87=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 560235	NM_057175.5(NAA15):c.266T>C (p.Leu89Pro)	NAA15 (L89P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50 +1 more	GConflicting classifications of pathogenicity
Select item 2502117	NM_057175.5(NAA15):c.280AAG[1] (p.Lys95del)	NAA15 (K95del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1070402	NM_057175.5(NAA15):c.280A>T (p.Lys94Ter)	NAA15 (K94*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2664796	NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)	NAA15 (Y103*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 2247415	NM_057175.5(NAA15):c.326G>A (p.Trp109Ter)	NAA15 (W109*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1320242	NM_057175.5(NAA15):c.327G>A (p.Trp109Ter)	NAA15 (W109*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 1177057	NM_057175.5(NAA15):c.334G>A (p.Asp112Asn)	NAA15 (D112N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 2279264	NM_057175.5(NAA15):c.338A>G (p.Asn113Ser)	NAA15 (N113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662232	NM_057175.5(NAA15):c.351_359del (p.Leu117_Leu120delinsPhe)	NAA15	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2072194	NM_057175.5(NAA15):c.369A>G (p.Leu123=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521938	NM_057175.5(NAA15):c.382C>T (p.Arg128Ter)	NAA15 (R128*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50 +2 more	GPathogenic
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 3171249	NM_057175.5(NAA15):c.394G>A (p.Gly132Ser)	NAA15 (G132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2132040	NM_057175.5(NAA15):c.400A>C (p.Arg134=)	NAA15	Single nucleotide variant (synonymous 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 1987381	NM_057175.5(NAA15):c.402+27dup	NAA15	Duplication (intron variant)	not provided	GBenign
Select item 2968945	NM_057175.5(NAA15):c.402+26_402+27del	NAA15	Deletion (intron variant)	not provided	GBenign
Select item 2830628	NM_057175.5(NAA15):c.402+18T>G	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989178	NM_057175.5(NAA15):c.402+27del	NAA15	Deletion (intron variant)	not provided	GBenign
Select item 1237253	NM_057175.5(NAA15):c.403-131G>A	NAA15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721244	NM_057175.5(NAA15):c.403-7T>C	NAA15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700223	NM_057175.5(NAA15):c.403-1G>A	NAA15	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 2884307	NM_057175.5(NAA15):c.411G>A (p.Arg137=)	NAA15	Single nucleotide variant (synonymous 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 1064829	NM_057175.5(NAA15):c.426G>T (p.Gln142His)	NAA15 (Q142H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 620471	NM_057175.5(NAA15):c.430C>T (p.Arg144Ter)	NAA15 (R144*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50 +2 more	GPathogenic
Select item 1074822	NM_057175.5(NAA15):c.434del (p.Pro145fs)	NAA15 (P145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2992653	NM_057175.5(NAA15):c.438G>A (p.Ala146=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081667	NM_057175.5(NAA15):c.447A>G (p.Ala149=)	NAA15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430366	NM_057175.5(NAA15):c.464C>G (p.Ala155Gly)	NAA15 (A155G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1701473	NM_057175.5(NAA15):c.475C>T (p.His159Tyr)	NAA15 (H159Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2121389	NM_057175.5(NAA15):c.482T>A (p.Leu161Ter)	NAA15 (L161*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754521	NM_057175.5(NAA15):c.505A>G (p.Lys169Glu)	NAA15 (K169E)	Single nucleotide variant (missense 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 3171253	NM_057175.5(NAA15):c.533A>C (p.Gln178Pro)	NAA15 (Q178P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712852	NM_057175.5(NAA15):c.537+10A>G	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 1233099	NM_057175.5(NAA15):c.537+307C>T	NAA15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280333	NM_057175.5(NAA15):c.537+317T>G	NAA15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274832	NM_057175.5(NAA15):c.538-103G>A	NAA15	Single nucleotide variant (intron variant)	not provided	GBenign

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