"Ambry Genetics"[submitter] AND "PTOV1-AS2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529708	NM_001394010.1(PTOV1):c.584T>C (p.Ile195Thr)	PTOV1, PTOV1-AS2 (I195T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548791	NM_001394010.1(PTOV1):c.587C>T (p.Ser196Phe)	PTOV1, PTOV1-AS2 (S164F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516457	NM_001394010.1(PTOV1):c.602G>A (p.Arg201His)	PTOV1, PTOV1-AS2 (R169H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149027	NM_001394010.1(PTOV1):c.649C>G (p.Leu217Val)	PTOV1, PTOV1-AS2 (L185V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2311861	NM_001394010.1(PTOV1):c.685A>G (p.Ile229Val)	PTOV1, PTOV1-AS2 (I244V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311369	NM_001394010.1(PTOV1):c.731G>A (p.Gly244Asp)	PTOV1, PTOV1-AS2 (G212D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149029	NM_001394010.1(PTOV1):c.748G>C (p.Val250Leu)	PTOV1, PTOV1-AS2 (V109L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455039	NM_001394010.1(PTOV1):c.765C>G (p.Asn255Lys)	PTOV1, PTOV1-AS2 (N255K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615771	NM_001394010.1(PTOV1):c.818C>T (p.Pro273Leu)	PTOV1, PTOV1-AS2 (P132L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149030	NM_001394010.1(PTOV1):c.827G>A (p.Arg276Gln)	PTOV1, PTOV1-AS2 (R135Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229003	NM_001394010.1(PTOV1):c.853G>A (p.Val285Ile)	PTOV1, PTOV1-AS2 (V300I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406946	NM_001394010.1(PTOV1):c.891G>T (p.Gln297His)	PTOV1, PTOV1-AS2 (Q297H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311365	NM_001394010.1(PTOV1):c.968G>A (p.Arg323His)	PTOV1, PTOV1-AS2 (R182H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547772	NM_001394010.1(PTOV1):c.989C>T (p.Thr330Ile)	PTOV1, PTOV1-AS2 (T330I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2284664	NM_001394010.1(PTOV1):c.998T>C (p.Leu333Pro)	PTOV1, PTOV1-AS2 (L301P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance