"Ambry Genetics"[submitter] AND "LOC129995010"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597096	NM_007286.6(SYNPO):c.2056C>G (p.Pro686Ala)	LOC129995010, SYNPO (P686A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258979	NM_007286.6(SYNPO):c.2057C>A (p.Pro686Gln)	LOC129995010, SYNPO (P686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509950	NM_007286.6(SYNPO):c.2062T>C (p.Trp688Arg)	LOC129995010, SYNPO (W688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231620	NM_007286.6(SYNPO):c.2062T>A (p.Trp688Arg)	LOC129995010, SYNPO (W688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205132	NM_007286.6(SYNPO):c.2065A>C (p.Thr689Pro)	LOC129995010, SYNPO (T689P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212349	NM_007286.6(SYNPO):c.2083C>T (p.Pro695Ser)	LOC129995010, SYNPO (P695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592397	NM_007286.6(SYNPO):c.2107G>A (p.Val703Met)	LOC129995010, SYNPO (V703M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2061103	NM_007286.6(SYNPO):c.2147T>G (p.Met716Arg)	LOC129995010, SYNPO (M716R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3323977	NM_007286.6(SYNPO):c.2154C>A (p.Ser718Arg)	LOC129995010, SYNPO (S718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2142121	NM_007286.6(SYNPO):c.2179C>T (p.Pro727Ser)	LOC129995010, SYNPO (P727S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2066492	NM_007286.6(SYNPO):c.2192C>G (p.Ser731Trp)	SYNPO, LOC129995010 (S731W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2462801	NM_007286.6(SYNPO):c.2204G>C (p.Arg735Pro)	LOC129995010, SYNPO (R735P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245649	NM_007286.6(SYNPO):c.2224C>T (p.Pro742Ser)	LOC129995010, SYNPO (P742S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance