SYTL5[gene] and "single gene"[properties] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205503	NM_138780.3(SYTL5):c.26A>G (p.Asn9Ser)	SYTL5 (N9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324110	NM_138780.3(SYTL5):c.44A>G (p.Asp15Gly)	SYTL5 (D15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238894	NM_138780.3(SYTL5):c.220A>T (p.Ile74Phe)	SYTL5 (I74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551914	NM_138780.3(SYTL5):c.222C>G (p.Ile74Met)	SYTL5 (I74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206054	NM_138780.3(SYTL5):c.226G>A (p.Asp76Asn)	SYTL5 (D76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232013	NM_138780.3(SYTL5):c.259A>T (p.Arg87Trp)	SYTL5 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485963	NM_138780.3(SYTL5):c.278G>A (p.Arg93Gln)	SYTL5 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049119	NM_138780.3(SYTL5):c.293A>G (p.Asn98Ser)	SYTL5 (N98S)	Single nucleotide variant (missense variant)	SYTL5-related disorder	GLikely benign
Select item 2378747	NM_138780.3(SYTL5):c.295G>C (p.Gly99Arg)	SYTL5 (G99R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3324112	NM_138780.3(SYTL5):c.376A>G (p.Lys126Glu)	SYTL5 (K126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239136	NM_138780.3(SYTL5):c.403G>A (p.Gly135Ser)	SYTL5 (G135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460647	NM_138780.3(SYTL5):c.463A>G (p.Ser155Gly)	SYTL5 (S155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262419	NM_138780.3(SYTL5):c.478C>T (p.Arg160Cys)	SYTL5 (R160C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330745	NM_138780.3(SYTL5):c.511G>A (p.Val171Ile)	SYTL5 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324114	NM_138780.3(SYTL5):c.586A>G (p.Arg196Gly)	SYTL5 (R196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381240	NM_138780.3(SYTL5):c.700G>A (p.Gly234Ser)	SYTL5 (G234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216137	NM_138780.3(SYTL5):c.733C>T (p.Pro245Ser)	SYTL5 (P245S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3173125	NM_138780.3(SYTL5):c.740C>A (p.Thr247Asn)	SYTL5 (T247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612254	NM_138780.3(SYTL5):c.743C>T (p.Pro248Leu)	SYTL5 (P248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173126	NM_138780.3(SYTL5):c.755G>A (p.Arg252Gln)	SYTL5 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468296	NM_138780.3(SYTL5):c.827G>A (p.Ser276Asn)	SYTL5 (S276N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173127	NM_138780.3(SYTL5):c.839G>A (p.Gly280Asp)	SYTL5 (G280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173128	NM_138780.3(SYTL5):c.844G>A (p.Glu282Lys)	SYTL5 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046743	NM_138780.3(SYTL5):c.905G>A (p.Arg302His)	SYTL5 (R302H)	Single nucleotide variant (missense variant)	SYTL5-related disorder	GBenign
Select item 3173129	NM_138780.3(SYTL5):c.914C>T (p.Thr305Ile)	SYTL5 (T305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173130	NM_138780.3(SYTL5):c.932T>C (p.Ile311Thr)	SYTL5 (I311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046489	NM_138780.3(SYTL5):c.947C>T (p.Thr316Ile)	SYTL5 (T316I)	Single nucleotide variant (missense variant)	SYTL5-related disorder	GLikely benign
Select item 2282286	NM_138780.3(SYTL5):c.955T>C (p.Ser319Pro)	SYTL5 (S319P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351288	NM_138780.3(SYTL5):c.1019C>T (p.Thr340Ile)	SYTL5 (T340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487683	NM_138780.3(SYTL5):c.1087A>G (p.Ser363Gly)	SYTL5 (S363G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551888	NM_138780.3(SYTL5):c.1103T>C (p.Val368Ala)	SYTL5 (V368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173118	NM_138780.3(SYTL5):c.1109C>T (p.Ser370Leu)	SYTL5 (S370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409164	NM_138780.3(SYTL5):c.1133G>A (p.Arg378His)	SYTL5 (R378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607194	NM_138780.3(SYTL5):c.1238A>G (p.His413Arg)	SYTL5 (H413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545235	NM_138780.3(SYTL5):c.1267C>A (p.Leu423Met)	SYTL5 (L445M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324111	NM_138780.3(SYTL5):c.1310A>G (p.Asp437Gly)	SYTL5 (D437G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622081	NM_138780.3(SYTL5):c.1382G>A (p.Arg461His)	SYTL5 (R461H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315797	NM_138780.3(SYTL5):c.1508G>A (p.Arg503His)	SYTL5 (R525H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173120	NM_138780.3(SYTL5):c.1534A>T (p.Ile512Phe)	SYTL5 (I534F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476399	NM_138780.3(SYTL5):c.1564C>A (p.Pro522Thr)	SYTL5 (P522T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173121	NM_138780.3(SYTL5):c.1636G>A (p.Glu546Lys)	SYTL5 (E546K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660288	NM_138780.3(SYTL5):c.1854T>A (p.Pro618=)	SYTL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508145	NM_138780.3(SYTL5):c.1933T>C (p.Phe645Leu)	SYTL5 (F645L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173122	NM_138780.3(SYTL5):c.2010C>A (p.Ser670Arg)	SYTL5 (S670R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295221	NM_138780.3(SYTL5):c.2014A>G (p.Ile672Val)	SYTL5 (I694V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317993	NM_138780.3(SYTL5):c.2071G>A (p.Val691Met)	SYTL5 (V713M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045031	NM_138780.3(SYTL5):c.2090A>G (p.Gln697Arg)	SYTL5 (Q697R +1 more)	Single nucleotide variant (missense variant)	SYTL5-related disorder	GLikely benign
Select item 2589478	NM_138780.3(SYTL5):c.2104C>T (p.Arg702Cys)	SYTL5 (R702C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362005	NM_138780.3(SYTL5):c.2105G>A (p.Arg702His)	SYTL5 (R724H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3173123	NM_138780.3(SYTL5):c.2108T>C (p.Leu703Pro)	SYTL5 (L703P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491650	NM_138780.3(SYTL5):c.2123C>G (p.Ala708Gly)	SYTL5 (A730G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324113	NM_138780.3(SYTL5):c.2165G>A (p.Arg722His)	SYTL5 (R722H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 52