LOC130063512[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2206922	NM_032885.6(ATG4D):c.34C>T (p.Arg12Trp)	ATG4D, LOC130063512 (R12W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3321351	NM_032885.6(ATG4D):c.64C>T (p.Arg22Trp)	ATG4D, LOC130063512 (R22W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3131011	NM_032885.6(ATG4D):c.82C>G (p.Pro28Ala)	ATG4D, LOC130063512 (P28A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2604050	NM_032885.6(ATG4D):c.85C>G (p.Arg29Gly)	ATG4D, LOC130063512 (R29G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance