"Ambry Genetics"[submitter] AND "MGC32805"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2279145	NM_005460.4(SNCAIP):c.1298A>G (p.Glu433Gly)	MGC32805, SNCAIP (E67G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166942	NM_005460.4(SNCAIP):c.1358T>C (p.Val453Ala)	MGC32805, SNCAIP (V393A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601676	NM_005460.4(SNCAIP):c.1381G>A (p.Val461Ile)	MGC32805, SNCAIP (V508I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3166943	NM_005460.4(SNCAIP):c.1400A>G (p.His467Arg)	MGC32805, SNCAIP (H161R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374585	NM_005460.4(SNCAIP):c.1465G>A (p.Ala489Thr)	MGC32805, SNCAIP (A121T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321160	NM_005460.4(SNCAIP):c.1571A>G (p.Lys524Arg)	MGC32805, SNCAIP (K158R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553056	NM_005460.4(SNCAIP):c.1642G>A (p.Glu548Lys)	MGC32805, SNCAIP (E182K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382154	NM_005460.4(SNCAIP):c.1724A>C (p.Lys575Thr)	MGC32805, SNCAIP (K209T +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2590935	NM_005460.4(SNCAIP):c.1816C>T (p.Arg606Trp)	MGC32805, SNCAIP (R653W +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374236	NM_005460.4(SNCAIP):c.1862G>A (p.Arg621His)	MGC32805, SNCAIP (R253H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277928	NM_005460.4(SNCAIP):c.1913T>C (p.Leu638Pro)	MGC32805, SNCAIP (L638P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541709	NM_005460.4(SNCAIP):c.2006A>C (p.Gln669Pro)	MGC32805, SNCAIP (Q301P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233119	NM_005460.4(SNCAIP):c.2087C>T (p.Ala696Val)	MGC32805, SNCAIP (A292V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 350500	NM_005460.4(SNCAIP):c.2140G>A (p.Ala714Thr)	MGC32805, SNCAIP (A714T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2275733	NM_005460.4(SNCAIP):c.2148C>G (p.Ser716Arg)	MGC32805, SNCAIP (S312R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246460	NM_005460.4(SNCAIP):c.2158A>C (p.Met720Leu)	MGC32805, SNCAIP (M660L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277017	NM_005460.4(SNCAIP):c.2176T>A (p.Leu726Met)	MGC32805, SNCAIP (L358M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166946	NM_005460.4(SNCAIP):c.2297C>T (p.Ser766Leu)	MGC32805, SNCAIP (S362L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509733	NM_005460.4(SNCAIP):c.2324C>T (p.Ser775Phe)	MGC32805, SNCAIP (S407F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347030	NM_005460.4(SNCAIP):c.2395C>T (p.Leu799Phe)	MGC32805, SNCAIP (L739F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166948	NM_005460.4(SNCAIP):c.2482C>G (p.Pro828Ala)	MGC32805, SNCAIP (P460A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358810	NM_005460.4(SNCAIP):c.2536C>T (p.Arg846Trp)	MGC32805, SNCAIP (R442W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223970	NM_005460.4(SNCAIP):c.2588C>G (p.Ala863Gly)	MGC32805, SNCAIP (A803G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227765	NM_005460.4(SNCAIP):c.2594G>A (p.Arg865Gln)	MGC32805, SNCAIP (R497Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242693	NM_005460.4(SNCAIP):c.2713G>A (p.Gly905Arg)	MGC32805, SNCAIP (G539R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518819	NM_005460.4(SNCAIP):c.2731G>A (p.Ala911Thr)	MGC32805, SNCAIP (A545T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 26