LOC130063668[gene] - ClinVar - NCBI

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Items: 13

	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 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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 3218488	NM_005809.6(PRDX2):c.253G>T (p.Ala85Ser)	LOC130063668, PRDX2 (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218487	NM_005809.6(PRDX2):c.249C>A (p.His83Gln)	LOC130063668, PRDX2 (H83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218486	NM_005809.6(PRDX2):c.182G>A (p.Arg61His)	LOC130063668, PRDX2 (R61H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253823	NM_005809.6(PRDX2):c.143C>G (p.Thr48Ser)	LOC130063668, PRDX2 (T48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218485	NM_005809.6(PRDX2):c.136G>A (p.Asp46Asn)	LOC130063668, PRDX2 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance