"Counsyl"[submitter] AND "LOC130000316"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558679	NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)	HGSNAT, LOC130000316 (A4fs)	Insertion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C	GLikely pathogenic
Select item 553290	NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)	HGSNAT, LOC130000316	Deletion (inframe_deletion +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 550260	NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)	HGSNAT, LOC130000316	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 552702	NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup)	HGSNAT, LOC130000316	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance

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