"GeneDx"[submitter] AND "LOC126862447"[gene] - ClinVar

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Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1223429	NM_000512.5(GALNS):c.1482+189C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196720	NM_000512.5(GALNS):c.1482+184A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275374	NM_000512.5(GALNS):c.1482+121T>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206843	NM_000512.5(GALNS):c.1482+116G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210784	NM_000512.5(GALNS):c.1482+109C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707280	NM_000512.5(GALNS):c.1482+37G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284192	NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	LOC126862447, GALNS (V480F +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign/Likely benign
Select item 93168	NM_000512.5(GALNS):c.1431G>A (p.Glu477=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1158060	NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)	GALNS, LOC126862447 (S285L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 321189	NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)	LOC126862447, GALNS (A459V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1202126	NM_000512.5(GALNS):c.1365-81C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297859	NM_000512.5(GALNS):c.1365-129A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297858	NM_000512.5(GALNS):c.1365-243C>T	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684054	NM_000512.5(GALNS):c.1365-277T>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684052	NM_000512.5(GALNS):c.1365-281A>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684047	NM_000512.5(GALNS):c.1365-285G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228059	NM_000512.5(GALNS):c.1365-304G>A	LOC126862447, GALNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221104	NM_000512.5(GALNS):c.1365-310T>C	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210614	NM_000512.5(GALNS):c.1365-324G>A	GALNS, LOC126862447	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152603	GRCh38/hg38 16q24.3(chr16:88818756-88836239)x1	GALNS, LOC126862447	Copy number loss	See cases	GLikely benign

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Items: 23