FAT2[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 290

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064881	NM_001447.3(FAT2):c.3632A>C (p.Glu1211Ala)	FAT2 (E1211A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GLikely pathogenic
Select item 2542419	NM_001447.3(FAT2):c.3587C>T (p.Thr1196Ile)	FAT2 (T1196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227139	NM_001447.3(FAT2):c.3575-15T>A	FAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294700	NM_001447.3(FAT2):c.3574+112T>C	FAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2112389	NM_001447.3(FAT2):c.3574+6G>T	FAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2532883	NM_001447.3(FAT2):c.3568G>C (p.Val1190Leu)	FAT2 (V1190L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2790773	NM_001447.3(FAT2):c.3557T>C (p.Met1186Thr)	FAT2 (M1186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713150	NM_001447.3(FAT2):c.3555T>C (p.Phe1185=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743861	NM_001447.3(FAT2):c.3546G>A (p.Met1182Ile)	FAT2 (M1182I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273017	NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His)	FAT2 (Y1181H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2260533	NM_001447.3(FAT2):c.3533G>C (p.Ser1178Thr)	FAT2 (S1178T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1220803	NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu)	FAT2 (P1164L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3277829	NM_001447.3(FAT2):c.3488A>T (p.Asp1163Val)	FAT2 (D1163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2038396	NM_001447.3(FAT2):c.3475C>A (p.Leu1159Met)	FAT2 (L1159M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3003029	NM_001447.3(FAT2):c.3468G>T (p.Val1156=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020867	NM_001447.3(FAT2):c.3465T>G (p.Ser1155=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936735	NM_001447.3(FAT2):c.3442G>C (p.Glu1148Gln)	FAT2 (E1148Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189379	NM_001447.3(FAT2):c.3437T>C (p.Ile1146Thr)	FAT2 (I1146T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026103	NM_001447.3(FAT2):c.3408del (p.Met1137fs)	FAT2 (M1137fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2992585	NM_001447.3(FAT2):c.3403C>A (p.Pro1135Thr)	FAT2 (P1135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049970	NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys)	FAT2 (N1133K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2203273	NM_001447.3(FAT2):c.3386A>G (p.Asp1129Gly)	FAT2 (D1129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978271	NM_001447.3(FAT2):c.3384G>A (p.Thr1128=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052406	NM_001447.3(FAT2):c.3384G>T (p.Thr1128=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2910792	NM_001447.3(FAT2):c.3383C>T (p.Thr1128Met)	FAT2 (T1128M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1226726	NM_001447.3(FAT2):c.3375C>T (p.Ile1125=)	FAT2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 3043485	NM_001447.3(FAT2):c.3367G>A (p.Val1123Ile)	FAT2 (V1123I)	Single nucleotide variant (missense variant)	FAT2-related disorder	GBenign
Select item 2134772	NM_001447.3(FAT2):c.3363T>G (p.Thr1121=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185231	NM_001447.3(FAT2):c.3354T>C (p.Ser1118=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429183	NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser)	FAT2 (G1113S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2032828	NM_001447.3(FAT2):c.3322T>C (p.Leu1108=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284373	NM_001447.3(FAT2):c.3319G>A (p.Val1107Ile)	FAT2 (V1107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2844075	NM_001447.3(FAT2):c.3301T>C (p.Ser1101Pro)	FAT2 (S1101P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001253	NM_001447.3(FAT2):c.3300A>G (p.Ala1100=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084208	NM_001447.3(FAT2):c.3296T>C (p.Phe1099Ser)	FAT2 (F1099S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2057031	NM_001447.3(FAT2):c.3290G>A (p.Arg1097Gln)	FAT2 (R1097Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2860708	NM_001447.3(FAT2):c.3284T>C (p.Leu1095Pro)	FAT2 (L1095P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914807	NM_001447.3(FAT2):c.3280C>T (p.Pro1094Ser)	FAT2 (P1094S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3093108	NM_001447.3(FAT2):c.3262A>G (p.Met1088Val)	FAT2 (M1088V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225762	NM_001447.3(FAT2):c.3259+215G>T	FAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245722	NM_001447.3(FAT2):c.3259+162G>T	FAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289046	NM_001447.3(FAT2):c.3259+142G>C	FAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2723514	NM_001447.3(FAT2):c.3253G>T (p.Asp1085Tyr)	FAT2 (D1085Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148807	NM_001447.3(FAT2):c.3232G>A (p.Ala1078Thr)	FAT2 (A1078T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059557	NM_001447.3(FAT2):c.3231C>T (p.Leu1077=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3005998	NM_001447.3(FAT2):c.3228A>G (p.Gly1076=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307631	NM_001447.3(FAT2):c.3215G>A (p.Arg1072His)	FAT2 (R1072H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2637487	NM_001447.3(FAT2):c.3214C>A (p.Arg1072Ser)	FAT2 (R1072S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183228	NM_001447.3(FAT2):c.3214C>T (p.Arg1072Cys)	FAT2 (R1072C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334244	NM_001447.3(FAT2):c.3151G>C (p.Val1051Leu)	FAT2 (V1051L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2043884	NM_001447.3(FAT2):c.3141G>A (p.Ser1047=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2984176	NM_001447.3(FAT2):c.3140C>T (p.Ser1047Leu)	FAT2 (S1047L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001995	NM_001447.3(FAT2):c.3127G>A (p.Glu1043Lys)	FAT2 (E1043K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730203	NM_001447.3(FAT2):c.3119A>C (p.Gln1040Pro)	FAT2 (Q1040P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248235	NM_001447.3(FAT2):c.3115G>C (p.Gly1039Arg)	FAT2 (G1039R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328769	NM_001447.3(FAT2):c.3106G>C (p.Val1036Leu)	FAT2 (V1036L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2062338	NM_001447.3(FAT2):c.3106G>A (p.Val1036Met)	FAT2 (V1036M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098292	NM_001447.3(FAT2):c.3067G>A (p.Val1023Met)	FAT2 (V1023M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257183	NM_001447.3(FAT2):c.3064G>T (p.Asp1022Tyr)	FAT2 (D1022Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414948	NM_001447.3(FAT2):c.3058G>A (p.Val1020Ile)	FAT2 (V1020I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909672	NM_001447.3(FAT2):c.3057C>T (p.Ile1019=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200669	NM_001447.3(FAT2):c.3056T>G (p.Ile1019Ser)	FAT2 (I1019S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147664	NM_001447.3(FAT2):c.3045T>C (p.His1015=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617266	NM_001447.3(FAT2):c.3043C>T (p.His1015Tyr)	FAT2 (H1015Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2890227	NM_001447.3(FAT2):c.3029G>A (p.Arg1010His)	FAT2 (R1010H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2043855	NM_001447.3(FAT2):c.3028C>T (p.Arg1010Cys)	FAT2 (R1010C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2170641	NM_001447.3(FAT2):c.3026C>T (p.Ala1009Val)	FAT2 (A1009V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745829	NM_001447.3(FAT2):c.3022C>T (p.Leu1008=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233585	NM_001447.3(FAT2):c.3019C>A (p.Pro1007Thr)	FAT2 (P1007T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257608	NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser)	FAT2 (G1004S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2045720	NM_001447.3(FAT2):c.3009T>C (p.Asp1003=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2314359	NM_001447.3(FAT2):c.3006T>A (p.Ser1002Arg)	FAT2 (S1002R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2017638	NM_001447.3(FAT2):c.2975G>A (p.Arg992Gln)	FAT2 (R992Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2056570	NM_001447.3(FAT2):c.2968G>A (p.Glu990Lys)	FAT2 (E990K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988979	NM_001447.3(FAT2):c.2943C>T (p.Leu981=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078943	NM_001447.3(FAT2):c.2940G>C (p.Ala980=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393255	NM_001447.3(FAT2):c.2936G>C (p.Gly979Ala)	FAT2 (G979A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717866	NM_001447.3(FAT2):c.2918G>A (p.Arg973Gln)	FAT2 (R973Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149528	NM_001447.3(FAT2):c.2918G>T (p.Arg973Leu)	FAT2 (R973L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897321	NM_001447.3(FAT2):c.2917C>T (p.Arg973Trp)	FAT2 (R973W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963753	NM_001447.3(FAT2):c.2902G>A (p.Ala968Thr)	FAT2 (A968T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809674	NM_001447.3(FAT2):c.2891T>C (p.Leu964Pro)	FAT2 (L964P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095655	NM_001447.3(FAT2):c.2881C>T (p.Arg961Ter)	FAT2 (R961*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2043597	NM_001447.3(FAT2):c.2876A>G (p.Glu959Gly)	FAT2 (E959G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867214	NM_001447.3(FAT2):c.2870C>T (p.Ala957Val)	FAT2 (A957V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746757	NM_001447.3(FAT2):c.2868C>T (p.Pro956=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179766	NM_001447.3(FAT2):c.2845G>T (p.Ala949Ser)	FAT2 (A949S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948780	NM_001447.3(FAT2):c.2841G>A (p.Leu947=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797842	NM_001447.3(FAT2):c.2801T>C (p.Val934Ala)	FAT2 (V934A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239472	NM_001447.3(FAT2):c.2794C>T (p.Leu932=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 242554	NM_001447.2:c.2773T>C	FAT2 (C925R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2069434	NM_001447.3(FAT2):c.2757C>T (p.Asn919=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2395575	NM_001447.3(FAT2):c.2743T>G (p.Leu915Val)	FAT2 (L915V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2064451	NM_001447.3(FAT2):c.2663G>A (p.Arg888Gln)	FAT2 (R888Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2173982	NM_001447.3(FAT2):c.2662C>T (p.Arg888Trp)	FAT2 (R888W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109200	NM_001447.3(FAT2):c.2652del (p.Glu884fs)	FAT2 (E884fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1027498	NM_001447.3(FAT2):c.2650G>A (p.Glu884Lys)	FAT2 (E884K)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 2695680	NM_001447.3(FAT2):c.2649C>T (p.Arg883=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923274	NM_001447.3(FAT2):c.2647C>G (p.Arg883Gly)	FAT2 (R883G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3277826	NM_001447.3(FAT2):c.2642T>C (p.Leu881Pro)	FAT2 (L881P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3