ClinVar for MedGen (Select 1800473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891806	NM_000263.4(NAGLU):c.1480T>C (p.Trp494Arg)	NAGLU (W494R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 3763692	NM_000263.4(NAGLU):c.1914C>G (p.Tyr638Ter)	NAGLU (Y638*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3763331	NM_000263.4(NAGLU):c.764+7T>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3763115	NM_000263.4(NAGLU):c.320dup (p.Leu108fs)	NAGLU (L108fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3762693	NM_000263.4(NAGLU):c.532-9C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3762632	NM_000263.4(NAGLU):c.2035C>T (p.Leu679=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3762559	NM_000263.4(NAGLU):c.384-12C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3762450	NM_000263.4(NAGLU):c.1254A>G (p.Gly418=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3762038	NM_000263.4(NAGLU):c.1331C>G (p.Ala444Gly)	NAGLU (A444G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 3761010	NM_000263.4(NAGLU):c.678+8G>C	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3760687	NM_000263.4(NAGLU):c.1429A>C (p.Ser477Arg)	NAGLU (S477R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 3759671	NM_000263.4(NAGLU):c.345_347del (p.Ala116del)	NAGLU (A116del)	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 3759448	NM_000263.4(NAGLU):c.512dup (p.Glu172fs)	NAGLU (E172fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3759436	NM_000263.4(NAGLU):c.531+1G>C	NAGLU	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3759435	NM_000263.4(NAGLU):c.1A>T (p.Met1Leu)	LOC130060903, NAGLU (M1L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3758832	NM_000263.4(NAGLU):c.94G>A (p.Val32Met)	LOC130060903, NAGLU (V32M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 3757949	NM_000263.4(NAGLU):c.1137G>A (p.Leu379=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3757529	NM_000263.4(NAGLU):c.684G>T (p.Arg228=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3757408	NM_000263.4(NAGLU):c.2121C>G (p.Ala707=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3756578	NM_000263.4(NAGLU):c.978C>A (p.Tyr326Ter)	NAGLU (Y326*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3756547	NM_000263.4(NAGLU):c.168G>A (p.Leu56=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3756323	NM_000263.4(NAGLU):c.1083G>T (p.Trp361Cys)	NAGLU (W361C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3756134	NM_000263.4(NAGLU):c.2020C>A (p.Arg674Ser)	NAGLU (R674S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 3756117	NM_000263.4(NAGLU):c.295_298del (p.Cys99fs)	NAGLU (C99fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3755995	NM_000263.4(NAGLU):c.162C>A (p.Arg54=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3755973	NM_000263.4(NAGLU):c.764+10del	NAGLU	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3755942	NM_000263.4(NAGLU):c.1874_1883del (p.Ala625fs)	NAGLU (A625fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3755785	NM_000263.4(NAGLU):c.2038G>T (p.Glu680Ter)	NAGLU (E680*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3755745	NM_000263.4(NAGLU):c.1464G>T (p.Pro488=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3755689	NM_000263.4(NAGLU):c.27G>A (p.Ala9=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3754963	NM_000263.4(NAGLU):c.1128C>T (p.Gly376=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3754929	NM_000263.4(NAGLU):c.372C>T (p.Ala124=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3754606	NM_000263.4(NAGLU):c.1689C>G (p.Leu563=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3754418	NM_000263.4(NAGLU):c.1029T>G (p.Thr343=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3754334	NM_000263.4(NAGLU):c.37_40dup (p.Leu14fs)	LOC130060903, NAGLU (L14fs)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 3753038	NM_000263.4(NAGLU):c.60C>G (p.Gly20=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3752340	NM_000263.4(NAGLU):c.1021+18G>A	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3752262	NM_000263.4(NAGLU):c.741G>A (p.Gly247=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3752006	NM_000263.4(NAGLU):c.2140A>G (p.Arg714Gly)	NAGLU (R714G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 3751671	NM_000263.4(NAGLU):c.501C>T (p.Ala167=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3751613	NM_000263.4(NAGLU):c.755C>T (p.Ala252Val)	NAGLU (A252V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 3751513	NM_000263.4(NAGLU):c.1022-18C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 3751193	NM_000263.4(NAGLU):c.1835G>A (p.Ser612Asn)	NAGLU (S612N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 3750918	NM_000263.4(NAGLU):c.819T>C (p.Cys273=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 3749734	NM_000263.4(NAGLU):c.1022-13C>G	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 3749412	NM_000263.4(NAGLU):c.1933C>T (p.Gln645Ter)	NAGLU (Q645*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 3581963	NM_000263.4(NAGLU):c.1705dup (p.Gln569fs)	NAGLU (Q569fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581961	NM_000263.4(NAGLU):c.1335del (p.Glu446fs)	NAGLU (E446fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581959	NM_000263.4(NAGLU):c.1018del (p.Ala340fs)	NAGLU (A340fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581958	NM_000263.4(NAGLU):c.804G>A (p.Trp268Ter)	NAGLU (W268*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581957	NM_000263.4(NAGLU):c.764+1G>T	NAGLU	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581956	NM_000263.4(NAGLU):c.640del (p.Leu214fs)	NAGLU (L214fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581955	NM_000263.4(NAGLU):c.224_231dup (p.Arg78fs)	LOC130060903, NAGLU (R78fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3581953	NM_000263.4(NAGLU):c.204del (p.Gly69fs)	LOC130060903, NAGLU (G69fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 3581952	NM_000263.4(NAGLU):c.113_131dup (p.Asp47fs)	LOC130060903, NAGLU (D47fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely pathogenic
Select item 3336527	NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)	NAGLU (T437I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely pathogenic
Select item 3252102	NM_000263.4(NAGLU):c.[2020C>T];[680A>C]			Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 3068857	NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg)	NAGLU (L348R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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

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