ClinVar for Gene (Select 100506033) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311368	NM_001394010.1(PTOV1):c.23C>T (p.Pro8Leu)	LOC130064947, PTOV1 +1 more (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149031	NM_001394010.1(PTOV1):c.82G>A (p.Val28Met)	PTOV1, PTOV1-AS1 (V28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149028	NM_001394010.1(PTOV1):c.65G>T (p.Arg22Leu)	PTOV1, PTOV1-AS1 (R22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475207	NM_001394010.1(PTOV1):c.127G>T (p.Gly43Cys)	PTOV1, PTOV1-AS1 (G43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468504	NM_001394010.1(PTOV1):c.116C>T (p.Ala39Val)	PTOV1, PTOV1-AS1 (A39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464315	NM_001394010.1(PTOV1):c.128G>A (p.Gly43Asp)	PTOV1, PTOV1-AS1 (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357945	NM_001394010.1(PTOV1):c.130C>T (p.Pro44Ser)	PTOV1, PTOV1-AS1 (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342407	NM_001394010.1(PTOV1):c.22C>T (p.Pro8Ser)	LOC130064947, PTOV1 +1 more (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323630	NM_001394010.1(PTOV1):c.49C>G (p.Leu17Val)	PTOV1, PTOV1-AS1 (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307475	NM_001394010.1(PTOV1):c.125G>A (p.Arg42Gln)	PTOV1, PTOV1-AS1 (R42Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272635	NM_001394010.1(PTOV1):c.16C>T (p.Arg6Cys)	LOC130064947, PTOV1 +1 more (R6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247832	NM_001394010.1(PTOV1):c.38C>A (p.Ala13Asp)	PTOV1, PTOV1-AS1 (A13D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204654	NM_001394010.1(PTOV1):c.17G>A (p.Arg6His)	LOC130064947, PTOV1 +1 more (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic