C4540439[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1118806	NM_014714.4(IFT140):c.4383C>T (p.Asp1461=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 317984	NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)	IFT140 (D1461N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1491602	NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)	IFT140 (D1460G)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1449015	NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)	IFT140 (D1460fs)	Insertion (frameshift variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1059677	NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)	IFT140 (D1460N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1362984	NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)	IFT140	Deletion (inframe_deletion)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 887467	NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)	IFT140 (E1452K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 465320	NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)	IFT140 (R1440C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 855250	NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)	IFT140 (V1435I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 957473	NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)	IFT140 (R1425Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 934789	NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)	IFT140 (R1425W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1007047	NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)	IFT140 (V1423M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 1124857	NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 499715	NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)	IFT140 (R1403Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 835647	NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)	IFT140 (M1402T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1616160	NM_014714.4(IFT140):c.4183-11C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1598532	NM_014714.4(IFT140):c.4183-20T>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 963729	NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)	IFT140 (V1387M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 858488	NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)	IFT140 (V1387L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1086802	NM_014714.4(IFT140):c.4144C>T (p.Leu1382=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1428832	NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg)	IFT140 (Q1359R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 1155279	NM_014714.4(IFT140):c.4056C>T (p.Asp1352=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 953698	NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)	IFT140 (T1348M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1063220	NM_014714.4(IFT140):c.4041-5G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1164492	NM_014714.4(IFT140):c.4040+15C>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 317990	NM_014714.4(IFT140):c.4040+11G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GBenign/Likely benign
Select item 317993	NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 964290	NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)	IFT140 (A1330V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +3 more	GConflicting classifications of pathogenicity
Select item 196179	NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)	IFT140 (A1330T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +4 more	GBenign/Likely benign
Select item 954234	NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])	IFT140	Microsatellite (inframe_insertion)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 1450642	NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)	IFT140 (K1320E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 489108	NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)	IFT140 (C1313*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1045560	NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)	IFT140 (E1309K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1354767	NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)	IFT140 (G1305R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 783164	NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 839535	NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)	IFT140 (I1294T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GUncertain significance
Select item 1393656	NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala)	IFT140 (V1292A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 961146	NM_014714.4(IFT140):c.3874-1G>A	IFT140	Single nucleotide variant (splice acceptor variant)	Saldino-Mainzer syndrome +1 more	GLikely pathogenic
Select item 1140576	NM_014714.4(IFT140):c.3874-17G>A	IFT140	Single nucleotide variant (intron variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 1591405	NM_014714.4(IFT140):c.3864T>C (p.Ala1288=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1150103	NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)	IFT140	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GLikely benign
Select item 317997	NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)	IFT140 (R1260Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1439773	NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)	IFT140 (V1240A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 788281	NM_014714.4(IFT140):c.3672G>A (p.Ala1224=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1014771	NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)	IFT140 (A1224V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 843963	NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)	IFT140 (R1223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1168214	NM_014714.4(IFT140):c.3661-18C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 1630308	NM_014714.4(IFT140):c.3660+14G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 733438	NM_014714.4(IFT140):c.3639G>A (p.Thr1213=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1367751	NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn)	IFT140 (K1211N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 318004	NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)	IFT140 (R1201H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1525445	NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)	IFT140 (M1200L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 962774	NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)	IFT140 (M1200V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 866425	NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)	IFT140 (Q1194R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GUncertain significance
Select item 1412651	NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)	IFT140 (R1188Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 844019	NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)	IFT140 (R1188W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 862131	NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)	IFT140 (S1187L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 728887	NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 966164	NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)	IFT140 (V1176M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 746958	NM_014714.4(IFT140):c.3525C>T (p.Thr1175=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 954087	NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)	IFT140 (Q1157L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 771588	NM_014714.4(IFT140):c.3426G>A (p.Ala1142=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1014990	NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)	IFT140 (A1142V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1424674	NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)	IFT140 (H1136fs)	Microsatellite (frameshift variant)	Saldino-Mainzer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 934113	NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)	IFT140 (R1128H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 969182	NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)	IFT140 (R1128C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1022219	NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)	IFT140 (A1101T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1017873	NM_014714.4(IFT140):c.3271-5C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1013651	NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)	IFT140 (V1079M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1061678	NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)	IFT140 (Y1073C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 886534	NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)	IFT140 (R1072Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +3 more	GConflicting classifications of pathogenicity
Select item 1328335	NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)	IFT140 (R1072*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 849217	NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)	IFT140 (L1058S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 886535	NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)	IFT140 (D1053N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1166923	NM_014714.4(IFT140):c.3156C>T (p.Asp1052=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +2 more	GBenign/Likely benign
Select item 1508327	NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)	IFT140 (G1050S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1053111	NM_014714.4(IFT140):c.3142_3144del	IFT140	Deletion	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 849606	NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)	IFT140, LOC126862260 (R1035Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 955432	NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)	IFT140, LOC126862260 (R1035W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1058344	NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)	IFT140, LOC126862260 (R1018C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1109898	NM_014714.4(IFT140):c.3033G>A (p.Ala1011=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1647188	NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 465317	NM_014714.4(IFT140):c.2988T>C (p.Asn996=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +1 more	GBenign/Likely benign
Select item 1015766	NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)	IFT140, LOC126862260 (N996S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 1179046	NM_014714.4(IFT140):c.2948del (p.Asp983fs)	IFT140, LOC126862260 (D983fs)	Deletion (frameshift variant)	Retinitis pigmentosa 80 +1 more	GLikely pathogenic
Select item 1031289	NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)	IFT140, LOC126862260 (R982Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1055036	NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)	IFT140, LOC126862260 (A974V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1397647	NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)	IFT140, LOC126862260	Deletion (inframe_deletion)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 867006	NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)	IFT140, LOC126862260 (A973T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 1108867	NM_014714.4(IFT140):c.2916C>T (p.Asp972=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 318041	NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)	IFT140, LOC126862260 (E970K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 772593	NM_014714.4(IFT140):c.2886G>A (p.Ala962=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1093700	NM_014714.4(IFT140):c.2844C>T (p.Tyr948=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 939319	NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)	IFT140, LOC126862260 (P943L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 933370	NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)	IFT140, LOC126862260 (T929M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 1407101	NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)	IFT140, LOC126862260 (S927L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1596566	NM_014714.4(IFT140):c.2768+17C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 958686	NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)	IFT140 (A920S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 858444	NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)	IFT140 (D916N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 772459	NM_014714.4(IFT140):c.2742C>T (p.Ser914=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +2 more	GBenign/Likely benign

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