SAXO5[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 3235445	NM_198534.3(SAXO5):c.484C>G (p.Arg162Gly)	SAXO5 (R162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235446	NM_198534.3(SAXO5):c.706G>C (p.Asp236His)	SAXO5 (D236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235443	NM_198534.3(SAXO5):c.1291C>T (p.Arg431Trp)	SAXO5 (R431W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235444	NM_198534.3(SAXO5):c.1423G>A (p.Val475Met)	SAXO5 (V475M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	PEX11G, PNPLA6 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2423795	NC_000019.9:g.(?_7527018)_(7624057_?)dup	ARHGEF18, MCOLN1 +4 more	Duplication	Hereditary spastic paraplegia 39	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic