4669[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1198846	NC_000017.11:g.42535722G>T	NAGLU	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1245069	NC_000017.11:g.42535761C>T	NAGLU	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 323282	NM_000263.3(NAGLU):c.-275T>C	LOC130060902, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323283	NM_000263.3(NAGLU):c.-271A>G	LOC130060902, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323284	NM_000263.3(NAGLU):c.-228C>G	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323285	NM_000263.3(NAGLU):c.-212G>C	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323286	NM_000263.3(NAGLU):c.-200G>C	NAGLU	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 323287	NM_000263.3(NAGLU):c.-167G>T	NAGLU	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323288	NM_000263.3(NAGLU):c.-144G>A	NAGLU	Single nucleotide variant	Sanfilippo syndrome +1 more	GConflicting classifications of pathogenicity
Select item 323289	NM_000263.3(NAGLU):c.-138A>G	NAGLU	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 323290	NM_000263.3(NAGLU):c.-82T>C	LOC130060903, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323291	NM_000263.3(NAGLU):c.-81C>T	NAGLU, LOC130060903	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323292	NM_000263.3(NAGLU):c.-78C>G	LOC130060903, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 488848	NM_000263.4(NAGLU):c.1A>G (p.Met1Val)	LOC130060903, NAGLU (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 3374959	NM_000263.4(NAGLU):c.2T>A (p.Met1Lys)	LOC130060903, NAGLU (M1K)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 2928680	NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)	LOC130060903, NAGLU (M1R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 554127	NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup)	LOC130060903, NAGLU	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 553224	NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)	LOC130060903, NAGLU (M1T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 1458683	NM_000263.4(NAGLU):c.3G>A (p.Met1Ile)	LOC130060903, NAGLU (M1I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 551575	NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)	LOC130060903, NAGLU (E2*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 2143377	NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)	LOC130060903, NAGLU (E2G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 542459	NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])	LOC130060903, NAGLU	Microsatellite (inframe_insertion)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
Select item 1425595	NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)	LOC130060903, NAGLU (A3S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GUncertain significance
Select item 1364111	NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)	NAGLU, LOC130060903 (A3V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1570734	NM_000263.4(NAGLU):c.9G>A (p.Ala3=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 554211	NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)	LOC130060903, NAGLU	Duplication (inframe_insertion)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2943010	NM_000263.4(NAGLU):c.12G>A (p.Val4=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 557298	NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)	LOC130060903, NAGLU (A5fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1029749	NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)	LOC130060903, NAGLU (A5V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 2940583	NM_000263.4(NAGLU):c.15G>A (p.Ala5=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1161769	NM_000263.4(NAGLU):c.15G>T (p.Ala5=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1096769	NM_000263.4(NAGLU):c.18G>C (p.Val6=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 799053	NM_000263.4(NAGLU):c.18G>A (p.Val6=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2923693	NM_000263.4(NAGLU):c.21C>T (p.Ala7=)	NAGLU, LOC130060903	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2072485	NM_000263.4(NAGLU):c.21C>G (p.Ala7=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2922263	NM_000263.4(NAGLU):c.24G>A (p.Ala8=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2045993	NM_000263.4(NAGLU):c.24G>T (p.Ala8=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 557147	NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del)	LOC130060903, NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 2160746	NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)	LOC130060903, NAGLU (A9V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1447242	NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)	LOC130060903, NAGLU (A9G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1152341	NM_000263.4(NAGLU):c.27G>T (p.Ala9=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1714563	NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)	LOC130060903, NAGLU (V10L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1021145	NM_000263.4(NAGLU):c.28G>A (p.Val10Met)	LOC130060903, NAGLU (V10M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 2165248	NM_000263.4(NAGLU):c.34dup (p.Val12fs)	LOC130060903, NAGLU (V12fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 193068	NM_000263.4(NAGLU):c.29T>G (p.Val10Gly)	LOC130060903, NAGLU (V10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121719	NM_000263.4(NAGLU):c.30G>T (p.Val10=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 992342	NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs)	LOC130060903, NAGLU (G11fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2012840	NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)	LOC130060903, NAGLU (G11R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1979393	NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala)	LOC130060903, NAGLU (G11A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1451100	NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)	NAGLU, LOC130060903 (G11V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2055789	NM_000263.4(NAGLU):c.36C>T (p.Val12=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2177847	NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)	LOC130060903, NAGLU (L13F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 2178337	NM_000263.4(NAGLU):c.39T>G (p.Leu13=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2118506	NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)	LOC130060903, NAGLU (L14I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2143246	NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)	LOC130060903, NAGLU (L15P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1035643	NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)	LOC130060903, NAGLU (A16V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1068486	NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)	LOC130060903, NAGLU (A21fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 936390	NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)	LOC130060903, NAGLU (E25fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic/Likely pathogenic
Select item 799798	NM_000263.4(NAGLU):c.48C>T (p.Ala16=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1647338	NM_000263.4(NAGLU):c.51G>A (p.Gly17=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2191718	NM_000263.4(NAGLU):c.54C>A (p.Ala18=)	NAGLU, LOC130060903	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1907559	NM_000263.4(NAGLU):c.54C>T (p.Ala18=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1604592	NM_000263.4(NAGLU):c.54C>G (p.Ala18=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1382617	NM_000263.4(NAGLU):c.59dup (p.Ala21fs)	LOC130060903, NAGLU (A21fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2125049	NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)	LOC130060903, NAGLU (G19E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1648332	NM_000263.4(NAGLU):c.57G>A (p.Gly19=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 968712	NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)	LOC130060903, NAGLU (G20V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 891627	NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)	LOC130060903, NAGLU (G20D)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 1394945	NM_000263.4(NAGLU):c.60C>T (p.Gly20=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2941003	NM_000263.4(NAGLU):c.63G>A (p.Ala21=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1076543	NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)	LOC130060903, NAGLU (D24fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 1125806	NM_000263.4(NAGLU):c.69C>G (p.Gly23=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1947032	NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)	LOC130060903, NAGLU (E25K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1959180	NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)	LOC130060903, NAGLU (E25G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 962915	NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)	LOC130060903, NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 975750	NM_000263.4(NAGLU):c.76G>T (p.Ala26Ser)	LOC130060903, NAGLU (A26S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 1518017	NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)	LOC130060903, NAGLU (A26V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1431249	NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)	LOC130060903, NAGLU (A26D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 1106798	NM_000263.4(NAGLU):c.78C>G (p.Ala26=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2122999	NM_000263.4(NAGLU):c.82dup (p.Glu28fs)	LOC130060903, NAGLU (E28fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 2024744	NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)	LOC130060903, NAGLU	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 558113	NM_000263.4(NAGLU):c.82del (p.Glu28fs)	LOC130060903, NAGLU (E28fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 2009640	NM_000263.4(NAGLU):c.81G>T (p.Arg27=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 796351	NM_000263.4(NAGLU):c.81G>C (p.Arg27=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1725141	NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)	LOC130060903, NAGLU (E28fs)	Indel (frameshift variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 1563789	NM_000263.4(NAGLU):c.87G>A (p.Ala29=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1635031	NM_000263.4(NAGLU):c.90G>A (p.Ala30=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1714853	NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)	LOC130060903, NAGLU (A31G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 1987290	NM_000263.4(NAGLU):c.93C>T (p.Ala31=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2627733	NM_000263.4(NAGLU):c.95T>C (p.Val32Ala)	LOC130060903, NAGLU (V32A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 1614453	NM_000263.4(NAGLU):c.99G>A (p.Arg33=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1029747	NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)	LOC130060903, NAGLU (A34P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GUncertain significance
Select item 1490129	NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)	LOC130060903, NAGLU (L35F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1008207	NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)	LOC130060903, NAGLU (L35P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 1123259	NM_000263.4(NAGLU):c.105C>T (p.Leu35=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1146528	NM_000263.4(NAGLU):c.108G>T (p.Val36=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 1428306	NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)	LOC130060903, NAGLU (A37S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance

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