C0086648[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556349	NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)	LOC130060903, NAGLU (V75fs)	Microsatellite (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic
Select item 92694	NM_000263.4(NAGLU):c.423T>C (p.Ser141=)	NAGLU	Single nucleotide variant (synonymous variant)	NAGLU-related condition +4 more	GBenign
Select item 496805	NM_000263.4(NAGLU):c.764+19C>G	NAGLU	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GBenign/Likely benign
Select item 1562	NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	NAGLU (R297*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic/Likely pathogenic
Select item 92697	NM_000263.4(NAGLU):c.933C>G (p.Ala311=)	NAGLU	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-B +3 more	GConflicting classifications of pathogenicity
Select item 167322	NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)	NAGLU (T441M)	Single nucleotide variant (missense variant)	NAGLU-related condition +3 more	GConflicting classifications of pathogenicity
Select item 522295	NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)	NAGLU	Single nucleotide variant (synonymous variant)	NAGLU-related condition +3 more	GConflicting classifications of pathogenicity
Select item 290320	NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GConflicting classifications of pathogenicity
Select item 1566	NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	NAGLU (P521L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +2 more	GPathogenic/Likely pathogenic
Select item 1078932	NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)	NAGLU	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2V +1 more	GLikely benign
Select item 1565	NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)	NAGLU (R643C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1560	NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	NAGLU (R674H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic