ClinVar for Gene (Select 79753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321188	NM_024700.4(SNIP1):c.1121C>T (p.Ser374Leu)	SNIP1 (S374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251991	NM_024700.4(SNIP1):c.445C>T (p.Gln149Ter)	LOC126805704, SNIP1 (Q149*)	Single nucleotide variant (nonsense)	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	GLikely pathogenic
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 2993417	NM_024700.4(SNIP1):c.305A>G (p.His102Arg)	SNIP1 (H102R)	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 2968246	NM_024700.4(SNIP1):c.114C>T (p.Val38=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2917061	NM_024700.4(SNIP1):c.22C>T (p.Arg8Trp)	SNIP1 (R8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2914066	NM_024700.4(SNIP1):c.136C>T (p.Pro46Ser)	SNIP1 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913985	NM_024700.4(SNIP1):c.1153G>A (p.Glu385Lys)	SNIP1 (E385K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2913120	NM_024700.4(SNIP1):c.99T>A (p.Arg33=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2900880	NM_024700.4(SNIP1):c.1071A>T (p.Val357=)	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 2874648	NM_024700.4(SNIP1):c.293G>A (p.Arg98Gln)	SNIP1 (R98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852976	NM_024700.4(SNIP1):c.1170G>A (p.Glu390=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845403	NM_024700.4(SNIP1):c.327+6_327+7insCCTCACCACTCAACAGTCAAAGTGAAGCACTCAACATCAAA	SNIP1	Insertion (intron variant)	not provided	GLikely benign
Select item 2845402	NM_024700.4(SNIP1):c.327+8G>T	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2815935	NM_024700.4(SNIP1):c.85G>T (p.Val29Leu)	SNIP1 (V29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815103	NM_024700.4(SNIP1):c.1106T>C (p.Leu369Ser)	SNIP1 (L369S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795781	NM_024700.4(SNIP1):c.224+7G>T	SNIP1	Single nucleotide variant (intron 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 2753216	NM_024700.4(SNIP1):c.1108C>T (p.Leu370Phe)	SNIP1 (L370F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743778	NM_024700.4(SNIP1):c.40C>T (p.Arg14Ter)	SNIP1 (R14*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2740941	NM_024700.4(SNIP1):c.277C>T (p.Arg93Cys)	SNIP1 (R93C)	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 2727393	NM_024700.4(SNIP1):c.1178T>C (p.Val393Ala)	SNIP1 (V393A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2711605	NM_024700.4(SNIP1):c.327+5G>C	SNIP1	Single nucleotide variant (intron 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)	SNIP1, LOC126805704 (R186*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 provided +1 more	GUncertain significance
Select item 2426872	NC_000001.10:g.(?_38003349)_(38003633_?)dup	SNIP1	Duplication	not provided	GUncertain significance
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	AIRIM, C1orf122 +8 more	Duplication	not provided	GUncertain significance
Select item 2420444	NM_024700.4(SNIP1):c.147C>T (p.Ser49=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335537	NM_024700.4(SNIP1):c.965G>A (p.Arg322Gln)	SNIP1 (R322Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2197271	NM_024700.4(SNIP1):c.92A>C (p.Gln31Pro)	SNIP1 (Q31P)	Single nucleotide variant (missense variant)	not provided	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)	LOC126805704, SNIP1 (R165Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184549	NM_024700.4(SNIP1):c.1161G>C (p.Glu387Asp)	SNIP1 (E387D)	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)	SNIP1, LOC126805704 (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 2156678	NM_024700.4(SNIP1):c.264A>C (p.Arg88Ser)	SNIP1 (R88S)	Single nucleotide variant (missense variant)	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 2143452	NM_024700.4(SNIP1):c.927-14T>C	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132196	NM_024700.4(SNIP1):c.927-5G>A	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2103519	NM_024700.4(SNIP1):c.291C>T (p.Asn97=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082722	NM_024700.4(SNIP1):c.1119G>T (p.Ser373=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078485	NM_024700.4(SNIP1):c.121C>T (p.Pro41Ser)	SNIP1 (P41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075106	NM_024700.4(SNIP1):c.1118C>T (p.Ser373Leu)	SNIP1 (S373L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2070723	NM_024700.4(SNIP1):c.1124A>G (p.Asp375Gly)	SNIP1 (D375G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065542	NM_024700.4(SNIP1):c.196C>T (p.Arg66Cys)	SNIP1, LOC129930156 (R66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057597	NM_024700.4(SNIP1):c.224+5G>C	SNIP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2051839	NM_024700.4(SNIP1):c.1161GGA[3] (p.Glu392del)	SNIP1 (E392del)	Microsatellite (inframe_deletion)	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 2038683	NM_024700.4(SNIP1):c.931G>A (p.Val311Met)	SNIP1 (V311M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1994969	NM_024700.4(SNIP1):c.316A>T (p.Lys106Ter)	SNIP1 (K106*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1982598	NM_024700.4(SNIP1):c.927-13T>C	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980437	NM_024700.4(SNIP1):c.1059A>G (p.Lys353=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1965534	NM_024700.4(SNIP1):c.944G>A (p.Arg315His)	SNIP1 (R315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964494	NM_024700.4(SNIP1):c.1113T>C (p.His371=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963096	NM_024700.4(SNIP1):c.927-4C>T	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948872	NM_024700.4(SNIP1):c.1050T>C (p.Tyr350=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938529	NM_024700.4(SNIP1):c.927-15C>T	SNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935710	NM_024700.4(SNIP1):c.123C>T (p.Pro41=)	SNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	SNIP1, LOC129930156 (R62H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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