ClinVar for MedGen (Select 88601) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954420	NM_000263.4(NAGLU):c.354G>T (p.Pro118=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2954314	NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2954305	NM_000263.4(NAGLU):c.384-12C>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2954132	NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2954038	NM_000263.4(NAGLU):c.383+10del	NAGLU	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GBenign
Select item 2953740	NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)	NAGLU (F410Y)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2953428	NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2953335	NM_000263.4(NAGLU):c.383+17del	NAGLU	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2953185	NM_000263.4(NAGLU):c.183C>A (p.Gly61=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2953059	NM_000263.4(NAGLU):c.679-19C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952999	NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952899	NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952802	NM_000263.4(NAGLU):c.383+7C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952420	NM_000263.4(NAGLU):c.1359G>T (p.Val453=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952411	NM_000263.4(NAGLU):c.765-5A>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952174	NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2952083	NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2951916	NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2951725	NM_000263.4(NAGLU):c.678+17G>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2951675	NM_000263.4(NAGLU):c.384-18T>C	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2951600	NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)	NAGLU (P250fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2951386	NM_000263.4(NAGLU):c.764+2T>C	NAGLU	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 2951319	NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2951244	NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)	NAGLU (L561V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 2951157	NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2950659	NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2950437	NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2950167	NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2950096	NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2950092	NM_000263.4(NAGLU):c.765-14T>C	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2949336	NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)	NAGLU	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2949229	NM_000263.4(NAGLU):c.764+9C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2949156	NM_000263.4(NAGLU):c.129C>A (p.Gly43=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2949068	NM_000263.4(NAGLU):c.939T>A (p.Thr313=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2949063	NM_000263.4(NAGLU):c.490del (p.Leu164fs)	NAGLU (L164fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2948811	NM_000263.4(NAGLU):c.549C>T (p.Gly183=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2948738	NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2948255	NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2948075	NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)	NAGLU (T564fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2948030	NM_000263.4(NAGLU):c.543C>G (p.Ala181=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2947925	NM_000263.4(NAGLU):c.532-19G>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2947675	NM_000263.4(NAGLU):c.1021+13G>C	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2947556	NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)	LOC130060903, NAGLU (G82fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2947536	NM_000263.4(NAGLU):c.678+7G>C	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2947355	NM_000263.4(NAGLU):c.607C>A (p.Arg203=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2947317	NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)	NAGLU (Y140S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 2947204	NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)	NAGLU (P126L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2947115	NM_000263.4(NAGLU):c.210C>T (p.Gly70=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2947061	NM_000263.4(NAGLU):c.532-6C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2946754	NM_000263.4(NAGLU):c.595del (p.Leu199fs)	NAGLU (L199fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2946515	NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2946293	NM_000263.4(NAGLU):c.1977C>T (p.Ala659=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2946083	NM_000263.4(NAGLU):c.390C>G (p.Arg130=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2946056	NM_000263.4(NAGLU):c.594C>T (p.Phe198=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2946044	NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2945574	NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2945510	NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2945050	NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2945048	NM_000263.4(NAGLU):c.2085C>T (p.His695=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2944831	NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2944758	NM_000263.4(NAGLU):c.165T>C (p.Ala55=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2944642	NM_000263.4(NAGLU):c.2066del (p.Gly689fs)	NAGLU (G689fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 2944291	NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2944211	NM_000263.4(NAGLU):c.207C>T (p.Gly69=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2944202	NM_000263.4(NAGLU):c.184T>C (p.Leu62=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2943673	NM_000263.4(NAGLU):c.764+14C>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2943033	NM_000263.4(NAGLU):c.1022-17C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
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 2942868	NM_000263.4(NAGLU):c.402T>C (p.Asn134=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2942857	NM_000263.4(NAGLU):c.615C>T (p.Gly205=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2942844	NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)	NAGLU	Single nucleotide variant (synonymous variant)	NAGLU-related condition +2 more	GLikely benign
Select item 2942674	NM_000263.4(NAGLU):c.855C>T (p.Asp285=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2942553	NM_000263.4(NAGLU):c.1623G>T (p.Arg541=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2942497	NM_000263.4(NAGLU):c.1177del (p.Arg393fs)	NAGLU (R393fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2942491	NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2942155	NM_000263.4(NAGLU):c.383+15C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2941964	NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)	NAGLU (L610M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 2941864	NM_000263.4(NAGLU):c.549C>G (p.Gly183=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2941785	NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)	NAGLU (C136*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2941620	NM_000263.4(NAGLU):c.483C>T (p.Gly161=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2941495	NM_000263.4(NAGLU):c.679-6C>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2941176	NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)	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)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2940651	NM_000263.4(NAGLU):c.764+10C>G	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2940583	NM_000263.4(NAGLU):c.15G>A (p.Ala5=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2939610	NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2939401	NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2939322	NM_000263.4(NAGLU):c.1021+11T>A	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2939060	NM_000263.4(NAGLU):c.1025del (p.Asp342fs)	NAGLU (D342fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 2939028	NM_000263.4(NAGLU):c.1359G>A (p.Val453=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2938990	NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2938925	NM_000263.4(NAGLU):c.764+20C>A	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2938666	NM_000263.4(NAGLU):c.312C>T (p.Ser104=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2938127	NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)	NAGLU (W347*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 2937895	NM_000263.4(NAGLU):c.764+20del	NAGLU	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GBenign
Select item 2937821	NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)	NAGLU (Q450*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 2937554	NM_000263.4(NAGLU):c.531+8C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2937421	NM_000263.4(NAGLU):c.516G>A (p.Glu172=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2937375	NM_000263.4(NAGLU):c.383+16T>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2937156	NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign

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