Related gene-specific medical variations for Gene (Select 79753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166988	NM_024700.4(SNIP1):c.605C>T (p.Ser202Phe)	LOC126805704, SNIP1 (S202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065687	NM_024700.4(SNIP1):c.794A>T (p.Lys265Ile)	LOC126805704, SNIP1 (K265I)	Single nucleotide variant (missense variant)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	GUncertain significance
Select item 3019898	NM_024700.4(SNIP1):c.760A>G (p.Ile254Val)	LOC126805704, SNIP1 (I254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015527	NM_024700.4(SNIP1):c.658G>A (p.Ala220Thr)	LOC126805704, SNIP1 (A220T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981331	NM_024700.4(SNIP1):c.818T>C (p.Met273Thr)	LOC126805704, SNIP1 (M273T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957406	NM_024700.4(SNIP1):c.514C>T (p.Leu172=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956927	NM_024700.4(SNIP1):c.175G>C (p.Glu59Gln)	LOC129930156, SNIP1 (E59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920602	NM_024700.4(SNIP1):c.798T>C (p.Asn266=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916236	NM_024700.4(SNIP1):c.823A>G (p.Ile275Val)	LOC126805704, SNIP1 (I275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902024	NM_024700.4(SNIP1):c.180G>A (p.Pro60=)	LOC129930156, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879870	NM_024700.4(SNIP1):c.391G>A (p.Glu131Lys)	LOC126805704, SNIP1 (E131K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875916	NM_024700.4(SNIP1):c.853C>T (p.Arg285Ter)	LOC126805704, SNIP1 (R285*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2828736	NM_024700.4(SNIP1):c.193C>T (p.His65Tyr)	LOC129930156, SNIP1 (H65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816219	NM_024700.4(SNIP1):c.909T>C (p.His303=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794922	NM_024700.4(SNIP1):c.478G>A (p.Gly160Arg)	LOC126805704, SNIP1 (G160R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786817	NM_024700.4(SNIP1):c.513C>T (p.Asn171=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783335	NM_024700.4(SNIP1):c.712A>G (p.Thr238Ala)	LOC126805704, SNIP1 (T238A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781510	NM_024700.4(SNIP1):c.506C>T (p.Thr169Ile)	LOC126805704, SNIP1 (T169I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768911	NM_024700.4(SNIP1):c.538G>A (p.Glu180Lys)	LOC126805704, SNIP1 (E180K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764761	NM_024700.4(SNIP1):c.330G>T (p.Glu110Asp)	LOC126805704, SNIP1 (E110D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739700	NM_024700.4(SNIP1):c.159G>C (p.Pro53=)	LOC129930156, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724833	NM_024700.4(SNIP1):c.418C>T (p.Arg140Trp)	LOC126805704, SNIP1 (R140W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721720	NM_024700.4(SNIP1):c.557G>A (p.Arg186Gln)	LOC126805704, SNIP1 (R186Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717345	NM_024700.4(SNIP1):c.757C>T (p.Arg253Cys)	LOC126805704, SNIP1 (R253C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708396	NM_024700.4(SNIP1):c.372C>T (p.His124=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694334	NM_024700.4(SNIP1):c.188C>G (p.Ser63Trp)	LOC129930156, SNIP1 (S63W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692818	NM_024700.4(SNIP1):c.556C>T (p.Arg186Ter)	LOC126805704, SNIP1 (R186*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2555986	NM_024700.4(SNIP1):c.156C>G (p.Ser52Arg)	LOC129930156, SNIP1 (S52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491239	NM_024700.4(SNIP1):c.412A>G (p.Ser138Gly)	LOC126805704, SNIP1 (S138G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2197207	NM_024700.4(SNIP1):c.744G>A (p.Glu248=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195774	NM_024700.4(SNIP1):c.652G>A (p.Val218Met)	LOC126805704, SNIP1 (V218M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194424	NM_024700.4(SNIP1):c.494G>A (p.Arg165Gln)	SNIP1, LOC126805704 (R165Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170796	NM_024700.4(SNIP1):c.620C>T (p.Pro207Leu)	LOC126805704, SNIP1 (P207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165649	NM_024700.4(SNIP1):c.348G>A (p.Arg116=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161112	NM_024700.4(SNIP1):c.724G>A (p.Val242Ile)	LOC126805704, SNIP1 (V242I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157649	NM_024700.4(SNIP1):c.702_704del (p.Glu234del)	LOC126805704, SNIP1 (E234del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2155422	NM_024700.4(SNIP1):c.566A>G (p.His189Arg)	LOC126805704, SNIP1 (H189R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153947	NM_024700.4(SNIP1):c.188C>T (p.Ser63Leu)	LOC129930156, SNIP1 (S63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152165	NM_024700.4(SNIP1):c.674G>A (p.Ser225Asn)	LOC126805704, SNIP1 (S225N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2107859	NM_024700.4(SNIP1):c.178C>T (p.Pro60Ser)	LOC129930156, SNIP1 (P60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065542	NM_024700.4(SNIP1):c.196C>T (p.Arg66Cys)	LOC129930156, SNIP1 (R66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047456	NM_024700.4(SNIP1):c.431G>A (p.Arg144Gln)	LOC126805704, SNIP1 (R144Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043564	NM_024700.4(SNIP1):c.396C>G (p.His132Gln)	LOC126805704, SNIP1 (H132Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2007748	NM_024700.4(SNIP1):c.214G>A (p.Gly72Arg)	LOC129930156, SNIP1 (G72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005858	NM_024700.4(SNIP1):c.214G>T (p.Gly72Ter)	LOC129930156, SNIP1 (G72*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1999002	NM_024700.4(SNIP1):c.412del (p.Ser138fs)	LOC126805704, SNIP1 (S138fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1979989	NM_024700.4(SNIP1):c.785A>T (p.Tyr262Phe)	LOC126805704, SNIP1 (Y262F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975200	NM_024700.4(SNIP1):c.765C>G (p.Pro255=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970031	NM_024700.4(SNIP1):c.590G>T (p.Gly197Val)	LOC126805704, SNIP1 (G197V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931088	NM_024700.4(SNIP1):c.788C>T (p.Pro263Leu)	LOC126805704, SNIP1 (P263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922095	NM_024700.4(SNIP1):c.436C>T (p.His146Tyr)	LOC126805704, SNIP1 (H146Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922050	NM_024700.4(SNIP1):c.185G>A (p.Arg62His)	LOC129930156, SNIP1 (R62H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1721807	NM_024700.4(SNIP1):c.635A>G (p.Asn212Ser)	LOC126805704, SNIP1 (N212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1673068	NM_024700.4(SNIP1):c.429C>T (p.His143=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667243	NM_024700.4(SNIP1):c.708C>T (p.Thr236=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666991	NM_024700.4(SNIP1):c.328-18A>T	LOC126805704, SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664398	NM_024700.4(SNIP1):c.462C>T (p.Asn154=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656883	NM_024700.4(SNIP1):c.456G>A (p.Thr152=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645030	NM_024700.4(SNIP1):c.560G>A (p.Arg187Gln)	SNIP1, LOC126805704 (R187Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1635629	NM_024700.4(SNIP1):c.912G>A (p.Ala304=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627317	NM_024700.4(SNIP1):c.840G>A (p.Ala280=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625626	NM_024700.4(SNIP1):c.591T>C (p.Gly197=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624453	NM_024700.4(SNIP1):c.657C>T (p.Pro219=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574396	NM_024700.4(SNIP1):c.582C>T (p.Asp194=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546131	NM_024700.4(SNIP1):c.213A>G (p.Arg71=)	LOC129930156, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545459	NM_024700.4(SNIP1):c.879A>G (p.Pro293=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1539898	NM_024700.4(SNIP1):c.600T>C (p.Ser200=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523872	NM_024700.4(SNIP1):c.197_198delinsTT (p.Arg66Leu)	LOC129930156, SNIP1 (R66L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1521425	NM_024700.4(SNIP1):c.583G>A (p.Val195Ile)	SNIP1, LOC126805704 (V195I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1509414	NM_024700.4(SNIP1):c.496G>A (p.Asp166Asn)	LOC126805704, SNIP1 (D166N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501075	NM_024700.4(SNIP1):c.562G>A (p.Glu188Lys)	LOC126805704, SNIP1 (E188K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484541	NM_024700.4(SNIP1):c.633C>T (p.Gly211=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1476189	NM_024700.4(SNIP1):c.161C>T (p.Ser54Phe)	LOC129930156, SNIP1 (S54F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475005	NM_024700.4(SNIP1):c.911C>T (p.Ala304Val)	LOC126805704, SNIP1 (A304V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473532	NM_024700.4(SNIP1):c.622C>T (p.Arg208Trp)	LOC126805704, SNIP1 (R208W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463702	NM_024700.4(SNIP1):c.671C>G (p.Pro224Arg)	LOC126805704, SNIP1 (P224R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462854	NM_024700.4(SNIP1):c.719G>A (p.Arg240Gln)	LOC126805704, SNIP1 (R240Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458995	NM_024700.4(SNIP1):c.423C>T (p.Asp141=)	LOC126805704, SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446863	NM_024700.4(SNIP1):c.364C>T (p.Arg122Trp)	LOC126805704, SNIP1 (R122W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446234	NM_024700.4(SNIP1):c.364C>G (p.Arg122Gly)	LOC126805704, SNIP1 (R122G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446061	NM_024700.4(SNIP1):c.691G>A (p.Ala231Thr)	LOC126805704, SNIP1 (A231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441696	NM_024700.4(SNIP1):c.545A>G (p.Tyr182Cys)	LOC126805704, SNIP1 (Y182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436017	NM_024700.4(SNIP1):c.346C>T (p.Arg116Trp)	LOC126805704, SNIP1 (R116W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433643	NM_024700.4(SNIP1):c.880A>G (p.Ile294Val)	LOC126805704, SNIP1 (I294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429241	NM_024700.4(SNIP1):c.758G>T (p.Arg253Leu)	LOC126805704, SNIP1 (R253L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421095	NM_024700.4(SNIP1):c.862C>T (p.Arg288Cys)	LOC126805704, SNIP1 (R288C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1416802	NM_024700.4(SNIP1):c.419G>A (p.Arg140Gln)	LOC126805704, SNIP1 (R140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413676	NM_024700.4(SNIP1):c.584T>G (p.Val195Gly)	LOC126805704, SNIP1 (V195G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1412655	NM_024700.4(SNIP1):c.337G>T (p.Asp113Tyr)	SNIP1, LOC126805704 (D113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404227	NM_024700.4(SNIP1):c.536G>A (p.Arg179Gln)	LOC126805704, SNIP1 (R179Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403155	NM_024700.4(SNIP1):c.185G>T (p.Arg62Leu)	LOC129930156, SNIP1 (R62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402091	NM_024700.4(SNIP1):c.472G>A (p.Gly158Arg)	LOC126805704, SNIP1 (G158R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400572	NM_024700.4(SNIP1):c.418C>G (p.Arg140Gly)	LOC126805704, SNIP1 (R140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399674	NM_024700.4(SNIP1):c.595G>A (p.Gly199Ser)	LOC126805704, SNIP1 (G199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398097	NM_024700.4(SNIP1):c.921A>G (p.Gln307=)	SNIP1, LOC126805704	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1395748	NM_024700.4(SNIP1):c.484G>A (p.Gly162Ser)	LOC126805704, SNIP1 (G162S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393008	NM_024700.4(SNIP1):c.692C>T (p.Ala231Val)	LOC126805704, SNIP1 (A231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387803	NM_024700.4(SNIP1):c.500G>A (p.Arg167Gln)	LOC126805704, SNIP1 (R167Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385234	NM_024700.4(SNIP1):c.430C>T (p.Arg144Trp)	LOC126805704, SNIP1 (R144W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1381518	NM_024700.4(SNIP1):c.339T>A (p.Asp113Glu)	LOC126805704, SNIP1 (D113E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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