ClinVar for Gene (Select 219285) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316119	NM_152703.5(SAMD9L):c.1532C>T (p.Pro511Leu)	SAMD9L (P511L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316118	NM_152703.5(SAMD9L):c.975G>A (p.Met325Ile)	SAMD9L (M325I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257505	NM_152703.5(SAMD9L):c.1111_1112del (p.Lys371fs)	SAMD9L (K371fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3254575	NM_152703.5(SAMD9L):c.2519T>A (p.Met840Lys)	SAMD9L (M840K)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3253508	NM_152703.5(SAMD9L):c.535G>T (p.Glu179Ter)	SAMD9L (E179*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3253455	NM_152703.5(SAMD9L):c.2525C>T (p.Ser842Phe)	SAMD9L (S842F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253128	NM_152703.5(SAMD9L):c.1178G>C (p.Ser393Thr)	SAMD9L (S393T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252641	NM_152703.5(SAMD9L):c.267A>C (p.Gln89His)	SAMD9L (Q89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245936	NC_000007.13:g.(?_92730641)_(92765284_?)dup	SAMD9, SAMD9L	Duplication	not provided	GUncertain significance
Select item 3239554	NM_152703.5(SAMD9L):c.2309del (p.Lys770fs)	SAMD9L (K770fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3157722	NM_152703.5(SAMD9L):c.4324G>C (p.Asp1442His)	SAMD9L (D1442H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157721	NM_152703.5(SAMD9L):c.3937T>C (p.Cys1313Arg)	SAMD9L (C1313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157720	NM_152703.5(SAMD9L):c.3643C>T (p.Pro1215Ser)	SAMD9L (P1215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157719	NM_152703.5(SAMD9L):c.3234C>G (p.Phe1078Leu)	SAMD9L (F1078L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157718	NM_152703.5(SAMD9L):c.2886C>A (p.Asp962Glu)	SAMD9L (D962E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157717	NM_152703.5(SAMD9L):c.1398C>A (p.Asn466Lys)	SAMD9L (N466K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157716	NM_152703.5(SAMD9L):c.1027G>C (p.Val343Leu)	SAMD9L (V343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067822	NM_152703.5(SAMD9L):c.1789A>G (p.Arg597Gly)	SAMD9L (R597G)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3065891	NM_152703.5(SAMD9L):c.3457C>A (p.Leu1153Ile)	SAMD9L (L1153I)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3065345	NM_152703.5(SAMD9L):c.3467C>A (p.Ala1156Glu)	SAMD9L (A1156E)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3064808	NM_152703.5(SAMD9L):c.901G>C (p.Asp301His)	SAMD9L (D301H)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3062948	GRCh37/hg19 7q21.2(chr7:92692377-92789371)x3	SAMD9, SAMD9L	Copy number gain	not specified	GUncertain significance
Select item 3060491	NM_152703.5(SAMD9L):c.172A>G (p.Met58Val)	SAMD9L (M58V)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 3058241	NM_152703.5(SAMD9L):c.3645C>T (p.Pro1215=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3057841	NM_152703.5(SAMD9L):c.4308A>G (p.Pro1436=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3057298	NM_152703.5(SAMD9L):c.1479C>A (p.Pro493=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3054732	NM_152703.5(SAMD9L):c.1476G>A (p.Gln492=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3053650	NM_152703.5(SAMD9L):c.2859A>G (p.Thr953=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3053605	NM_152703.5(SAMD9L):c.10C>G (p.Gln4Glu)	SAMD9L (Q4E)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 3045614	NM_152703.5(SAMD9L):c.1126T>C (p.Ser376Pro)	SAMD9L (S376P)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 3036918	NM_152703.5(SAMD9L):c.2640C>T (p.His880=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3023686	NM_152703.5(SAMD9L):c.159G>A (p.Lys53=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023286	NM_152703.5(SAMD9L):c.1179T>C (p.Ser393=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023200	NM_152703.5(SAMD9L):c.2772C>T (p.Phe924=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021435	NM_152703.5(SAMD9L):c.3846T>C (p.Tyr1282=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020779	NM_152703.5(SAMD9L):c.3325G>C (p.Ala1109Pro)	SAMD9L (A1109P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018928	NM_152703.5(SAMD9L):c.2050GAA[1] (p.Glu685del)	SAMD9L (E685del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3017936	NM_152703.5(SAMD9L):c.1178G>T (p.Ser393Ile)	SAMD9L (S393I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016661	NM_152703.5(SAMD9L):c.3946C>A (p.Gln1316Lys)	SAMD9L (Q1316K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014317	NM_152703.5(SAMD9L):c.811T>C (p.Tyr271His)	SAMD9L (Y271H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014166	NM_152703.5(SAMD9L):c.786C>A (p.Asp262Glu)	SAMD9L (D262E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013056	NM_152703.5(SAMD9L):c.952_954del (p.Asp318del)	SAMD9L (D318del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3011693	NM_152703.5(SAMD9L):c.4100T>C (p.Leu1367Pro)	SAMD9L (L1367P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010118	NM_152703.5(SAMD9L):c.2566G>A (p.Ala856Thr)	SAMD9L (A856T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009368	NM_152703.5(SAMD9L):c.4236G>A (p.Glu1412=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008229	NM_152703.5(SAMD9L):c.809A>G (p.Lys270Arg)	SAMD9L (K270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008228	NM_152703.5(SAMD9L):c.2352G>A (p.Leu784=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007708	NM_152703.5(SAMD9L):c.2206A>G (p.Ile736Val)	SAMD9L (I736V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007294	NM_152703.5(SAMD9L):c.1778T>C (p.Leu593Pro)	SAMD9L (L593P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006713	NM_152703.5(SAMD9L):c.3886G>A (p.Val1296Ile)	SAMD9L (V1296I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005953	NM_152703.5(SAMD9L):c.2397_2399del (p.Leu801del)	SAMD9L (L801del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3005331	NM_152703.5(SAMD9L):c.4293C>T (p.Cys1431=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005307	NM_152703.5(SAMD9L):c.1799T>C (p.Met600Thr)	SAMD9L (M600T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004582	NM_152703.5(SAMD9L):c.2828A>C (p.Glu943Ala)	SAMD9L (E943A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004534	NM_152703.5(SAMD9L):c.652A>C (p.Ser218Arg)	SAMD9L (S218R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003609	NM_152703.5(SAMD9L):c.1308_1317del (p.Lys436fs)	SAMD9L (K436fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3003523	NM_152703.5(SAMD9L):c.2430T>C (p.Asn810=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003342	NM_152703.5(SAMD9L):c.3014A>T (p.His1005Leu)	SAMD9L (H1005L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003263	NM_152703.5(SAMD9L):c.3549G>A (p.Gln1183=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003223	NM_152703.5(SAMD9L):c.897A>G (p.Pro299=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001800	NM_152703.5(SAMD9L):c.1473A>G (p.Gln491=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001523	NM_152703.5(SAMD9L):c.3581C>T (p.Thr1194Ile)	SAMD9L (T1194I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997077	NM_152703.5(SAMD9L):c.4561C>T (p.Leu1521Phe)	SAMD9L (L1521F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996690	NM_152703.5(SAMD9L):c.1933C>G (p.Leu645Val)	SAMD9L (L645V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993752	NM_152703.5(SAMD9L):c.1113G>A (p.Lys371=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992531	NM_152703.5(SAMD9L):c.3367C>G (p.Leu1123Val)	SAMD9L (L1123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991875	NM_152703.5(SAMD9L):c.2084G>A (p.Trp695Ter)	SAMD9L (W695*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2991071	NM_152703.5(SAMD9L):c.2017A>C (p.Lys673Gln)	SAMD9L (K673Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990807	NM_152703.5(SAMD9L):c.311C>T (p.Pro104Leu)	SAMD9L (P104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990003	NM_152703.5(SAMD9L):c.3230G>A (p.Arg1077Gln)	SAMD9L (R1077Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989523	NM_152703.5(SAMD9L):c.3215G>A (p.Ser1072Asn)	SAMD9L (S1072N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988966	NM_152703.5(SAMD9L):c.3006A>T (p.Arg1002Ser)	SAMD9L (R1002S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988950	NM_152703.5(SAMD9L):c.4193A>C (p.Lys1398Thr)	SAMD9L (K1398T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988449	NM_152703.5(SAMD9L):c.1768T>A (p.Trp590Arg)	SAMD9L (W590R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987619	NM_152703.5(SAMD9L):c.542A>G (p.Tyr181Cys)	SAMD9L (Y181C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987603	NM_152703.5(SAMD9L):c.954T>C (p.Asp318=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985486	NM_152703.5(SAMD9L):c.2173_2174delinsCT (p.Trp725Leu)	SAMD9L (W725L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2983353	NM_152703.5(SAMD9L):c.847T>G (p.Cys283Gly)	SAMD9L (C283G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983297	NM_152703.5(SAMD9L):c.2760A>C (p.Gln920His)	SAMD9L (Q920H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981882	NM_152703.5(SAMD9L):c.924T>C (p.Asp308=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979871	NM_152703.5(SAMD9L):c.729C>A (p.Asp243Glu)	SAMD9L (D243E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977583	NM_152703.5(SAMD9L):c.2527C>T (p.Arg843Trp)	SAMD9L (R843W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975887	NM_152703.5(SAMD9L):c.3561A>G (p.Arg1187=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975826	NM_152703.5(SAMD9L):c.429T>A (p.Asp143Glu)	SAMD9L (D143E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975128	NM_152703.5(SAMD9L):c.1308A>C (p.Lys436Asn)	SAMD9L (K436N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973411	NM_152703.5(SAMD9L):c.4009G>A (p.Ala1337Thr)	SAMD9L (A1337T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972220	NM_152703.5(SAMD9L):c.117T>C (p.Ser39=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971710	NM_152703.5(SAMD9L):c.355A>G (p.Ile119Val)	SAMD9L (I119V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969094	NM_152703.5(SAMD9L):c.3837A>G (p.Lys1279=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966697	NM_152703.5(SAMD9L):c.3663T>C (p.Asn1221=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965035	NM_152703.5(SAMD9L):c.974T>C (p.Met325Thr)	SAMD9L (M325T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964707	NM_152703.5(SAMD9L):c.4144A>G (p.Asn1382Asp)	SAMD9L (N1382D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2963671	NM_152703.5(SAMD9L):c.3396A>G (p.Lys1132=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963569	NM_152703.5(SAMD9L):c.2286C>T (p.Phe762=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963482	NM_152703.5(SAMD9L):c.4215G>A (p.Thr1405=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963314	NM_152703.5(SAMD9L):c.3367C>T (p.Leu1123=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962744	NM_152703.5(SAMD9L):c.2118T>C (p.Ser706=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961049	NM_152703.5(SAMD9L):c.3260C>A (p.Ala1087Asp)	SAMD9L (A1087D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960981	NM_152703.5(SAMD9L):c.425T>C (p.Leu142Ser)	SAMD9L (L142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2959550	NM_152703.5(SAMD9L):c.4425T>C (p.Leu1475=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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