ClinVar for Gene (Select 4669) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366457	NM_000263.4(NAGLU):c.1851G>C (p.Leu617Phe)	NAGLU (L617F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366057	NM_000263.4(NAGLU):c.630G>C (p.Trp210Cys)	NAGLU (W210C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339937	NM_000263.4(NAGLU):c.1963A>T (p.Ile655Phe)	NAGLU (I655F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337383	NM_000263.4(NAGLU):c.223G>T (p.Val75Leu)	LOC130060903, NAGLU (V75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336585	NM_000263.4(NAGLU):c.1547C>T (p.Pro516Leu)	NAGLU (P516L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 3336582	NM_000263.4(NAGLU):c.1876C>G (p.Arg626Gly)	NAGLU (R626G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336548	NM_000263.4(NAGLU):c.259G>C (p.Ala87Pro)	LOC130060903, NAGLU (A87P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GPathogenic
Select item 3336527	NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)	NAGLU (T437I)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 3298386	NM_000263.4(NAGLU):c.1573A>T (p.Met525Leu)	NAGLU (M525L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298385	NM_000263.4(NAGLU):c.2117A>G (p.Gln706Arg)	NAGLU (Q706R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256980	NM_000263.4(NAGLU):c.445C>T (p.Arg149Cys)	NAGLU (R149C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252102	NM_000263.4(NAGLU):c.[2020C>T];[680A>C]			Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3173759	NM_000263.4(NAGLU):c.320A>G (p.Gln107Arg)	NAGLU (Q107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173720	NM_000263.4(NAGLU):c.1136T>G (p.Leu379Arg)	NAGLU (L379R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173713	NM_000263.4(NAGLU):c.1031A>C (p.Glu344Ala)	NAGLU (E344A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173709	NM_000263.4(NAGLU):c.1016C>G (p.Thr339Ser)	NAGLU (T339S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068857	NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg)	NAGLU (L348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051948	NM_000263.4(NAGLU):c.*8G>A	NAGLU	Single nucleotide variant (3 prime UTR variant)	NAGLU-related disorder	GLikely benign
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)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2945510	NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2945050	NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2945048	NM_000263.4(NAGLU):c.2085C>T (p.His695=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2944831	NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2944758	NM_000263.4(NAGLU):c.165T>C (p.Ala55=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2944642	NM_000263.4(NAGLU):c.2066del (p.Gly689fs)	NAGLU (G689fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 2944291	NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2944211	NM_000263.4(NAGLU):c.207C>T (p.Gly69=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2944202	NM_000263.4(NAGLU):c.184T>C (p.Leu62=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2943673	NM_000263.4(NAGLU):c.764+14C>T	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2943033	NM_000263.4(NAGLU):c.1022-17C>G	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2943010	NM_000263.4(NAGLU):c.12G>A (p.Val4=)	LOC130060903, NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942868	NM_000263.4(NAGLU):c.402T>C (p.Asn134=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942857	NM_000263.4(NAGLU):c.615C>T (p.Gly205=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942844	NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GLikely benign
Select item 2942674	NM_000263.4(NAGLU):c.855C>T (p.Asp285=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942553	NM_000263.4(NAGLU):c.1623G>T (p.Arg541=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942497	NM_000263.4(NAGLU):c.1177del (p.Arg393fs)	NAGLU (R393fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic
Select item 2942491	NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2942155	NM_000263.4(NAGLU):c.383+15C>T	NAGLU	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2941964	NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)	NAGLU (L610M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 2941864	NM_000263.4(NAGLU):c.549C>G (p.Gly183=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 2941785	NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)	NAGLU (C136*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GPathogenic

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