ClinVar for Gene (Select 64748) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215413	NM_001393892.1(PLPPR2):c.1033C>T (p.Arg345Cys)	PLPPR2 (R320C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215412	NM_001393892.1(PLPPR2):c.994C>T (p.Pro332Ser)	PLPPR2 (P307S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215411	NM_001393892.1(PLPPR2):c.299C>T (p.Pro100Leu)	PLPPR2 (P100L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215410	NM_001393892.1(PLPPR2):c.1088C>T (p.Ser363Leu)	PLPPR2 (S338L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649326	NM_001393892.1(PLPPR2):c.703C>T (p.Leu235=)	PLPPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515357	NM_001393892.1(PLPPR2):c.1105C>T (p.Arg369Cys)	PLPPR2 (R344C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478744	NM_001393892.1(PLPPR2):c.1099G>A (p.Val367Met)	PLPPR2 (V367M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470412	NM_001393892.1(PLPPR2):c.167A>T (p.Tyr56Phe)	PLPPR2 (Y31F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468239	NM_001393892.1(PLPPR2):c.313G>A (p.Val105Ile)	PLPPR2 (V105I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466497	NM_001393892.1(PLPPR2):c.278G>A (p.Arg93His)	PLPPR2 (R68H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406296	NM_001393892.1(PLPPR2):c.1091C>T (p.Ser364Leu)	PLPPR2 (S364L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395951	NM_001393892.1(PLPPR2):c.706G>A (p.Val236Ile)	PLPPR2 (V211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391519	NM_001393892.1(PLPPR2):c.527C>T (p.Pro176Leu)	PLPPR2 (P176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376210	NM_001393892.1(PLPPR2):c.959C>A (p.Ala320Glu)	PLPPR2 (A320E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346172	NM_001393892.1(PLPPR2):c.1166C>T (p.Thr389Ile)	PLPPR2 (T389I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313703	NM_001393892.1(PLPPR2):c.1186C>A (p.Pro396Thr)	PLPPR2 (P371T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290908	NM_001393892.1(PLPPR2):c.1301C>G (p.Pro434Arg)	PLPPR2 (P409R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262034	NM_001393892.1(PLPPR2):c.1243C>G (p.Leu415Val)	PLPPR2 (L390V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244590	NM_001393892.1(PLPPR2):c.430G>A (p.Ala144Thr)	PLPPR2 (A119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226953	NM_001393892.1(PLPPR2):c.887G>A (p.Arg296Gln)	PLPPR2 (R296Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
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 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 25