LOC126862005[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	AHSA1, GSTZ1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 431041	NM_145870.3(GSTZ1):c.449C>T (p.Ala150Val)	GSTZ1, LOC126862005 (A150V +3 more)	Single nucleotide variant (missense variant)	Maleylacetoacetate isomerase deficiency	GAffects
Select item 2275669	NM_145870.3(GSTZ1):c.472G>A (p.Glu158Lys)	GSTZ1, LOC126862005 (E116K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276008	NM_145870.3(GSTZ1):c.475-12G>A	GSTZ1, LOC126862005	Single nucleotide variant (intron variant)	not provided	GBenign