"GeneDx"[submitter] AND "LOC129994126"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 1234016	NM_000046.5(ARSB):c.312+304C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224069	NM_000046.5(ARSB):c.312+229C>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205633	NM_000046.5(ARSB):c.312+212C>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235740	NM_000046.5(ARSB):c.312+167G>A	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261253	NM_000046.5(ARSB):c.312+163G>T	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209128	NM_000046.5(ARSB):c.312+57G>C	ARSB, LOC129994126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418017	NM_000046.5(ARSB):c.200T>A (p.Ile67Asn)	LOC129994126, ARSB (I67N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 559730	NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)	ARSB, LOC129994126 (D54N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GPathogenic/Likely pathogenic
Select item 453065	NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	LOC129994126, ARSB (L47fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193036	NM_000046.5(ARSB):c.98C>T (p.Ala33Val)	ARSB, LOC129994126 (A33V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign