C1956125 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 652394	NC_000020.11:g.(?_10253609)_(10673550_?)del	LOC128706666, LOC130065416 +23 more	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 500525	NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)	JAG1 (V1218I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 289034	NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +3 more	GConflicting classifications of pathogenicity
Select item 2875484	NM_000214.3(JAG1):c.3649A>C (p.Ile1217Leu)	JAG1 (I1217L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1375967	NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu)	JAG1 (R1213L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 594397	NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)	JAG1 (R1213Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1318652	NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)	JAG1 (R1213*)	Single nucleotide variant (nonsense)	not provided +4 more	GUncertain significance
Select item 1445935	NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val)	JAG1 (A1208V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2038139	NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)	JAG1 (S1207N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GUncertain significance
Select item 2772645	NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp)	JAG1 (N1202D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1123699	NM_000214.3(JAG1):c.3591A>C (p.Thr1197=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 847285	NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala)	JAG1 (T1197A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2870348	NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)	JAG1 (W1196G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 42479	NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp)	JAG1 (N1195D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2066978	NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)	JAG1 (H1193Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 1443170	NM_000214.3(JAG1):c.3573A>C (p.Thr1191=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 337743	NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +3 more	GConflicting classifications of pathogenicity
Select item 2386856	NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)	JAG1 (P1190L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 681340	NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)	JAG1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 964096	NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)	JAG1 (T1189M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1059945	NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala)	JAG1 (G1188A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1051296	NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)	JAG1 (G1188S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1421624	NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys)	JAG1 (N1187K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 698727	NM_000214.3(JAG1):c.3561C>T (p.Asn1187=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GLikely benign
Select item 499247	NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser)	JAG1 (N1187S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GConflicting classifications of pathogenicity
Select item 1057962	NM_000214.3(JAG1):c.3557C>G (p.Pro1186Arg)	JAG1 (P1186R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 337744	NM_000214.3(JAG1):c.3555C>T (p.Pro1185=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +3 more	GBenign/Likely benign
Select item 2009815	NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)	JAG1 (P1185L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1420867	NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys)	JAG1 (E1182K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1494264	NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)	JAG1 (R1181K)	Single nucleotide variant (missense variant)	JAG1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1583655	NM_000214.3(JAG1):c.3540C>T (p.Asp1180=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2130393	NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile)	JAG1 (V1179I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1999955	NM_000214.3(JAG1):c.3534G>T (p.Leu1178=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2190409	NM_000214.3(JAG1):c.3531G>T (p.Thr1177=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1578407	NM_000214.3(JAG1):c.3531G>A (p.Thr1177=)	JAG1	Single nucleotide variant (synonymous variant)	JAG1-related condition +1 more	GLikely benign
Select item 2758076	NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg)	JAG1 (T1177R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1018158	NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met)	JAG1 (T1177M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 42478	NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +5 more	GBenign
Select item 518698	NM_000214.3(JAG1):c.3525G>A (p.Ala1175=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 597241	NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)	JAG1 (A1175V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 937944	NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)	JAG1 (A1175T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 1595931	NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)	JAG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337745	NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)	JAG1 (P1174L)	Single nucleotide variant (missense variant)	Isolated Nonsyndromic Congenital Heart Disease +2 more	GConflicting classifications of pathogenicity
Select item 594000	NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +7 more	GBenign/Likely benign
Select item 932283	NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)	JAG1 (R1169Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 2197544	NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)	JAG1 (R1169W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1445072	NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly)	JAG1 (R1169G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 1732089	NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)	JAG1 (A1168G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GConflicting classifications of pathogenicity
Select item 2908060	NM_000214.3(JAG1):c.3492C>T (p.His1164=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1718501	NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu)	JAG1 (K1163E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1956047	NM_000214.3(JAG1):c.3481A>G (p.Met1161Val)	JAG1 (M1161V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1472958	NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)	JAG1 (D1160N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1014590	NM_000214.3(JAG1):c.3478G>C (p.Asp1160His)	JAG1 (D1160H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1588484	NM_000214.3(JAG1):c.3477C>T (p.Asp1159=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2161523	NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val)	JAG1 (D1159V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 424319	NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	JAG1 (V1156A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1391680	NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro)	JAG1 (S1154P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2166044	NM_000214.3(JAG1):c.3456C>T (p.His1152=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1714790	NM_000214.3(JAG1):c.3455A>C (p.His1152Pro)	JAG1 (H1152P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2506403	NM_000214.3(JAG1):c.3452del (p.Thr1151fs)	JAG1 (T1151fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1367823	NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys)	JAG1 (T1151K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GUncertain significance
Select item 1378467	NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)	JAG1 (E1140K)	Inversion (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 137595	NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +6 more	GBenign
Select item 2200239	NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)	JAG1 (K1137R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GConflicting classifications of pathogenicity
Select item 2012656	NM_000214.3(JAG1):c.3408C>A (p.Ile1136=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2151530	NM_000214.3(JAG1):c.3399G>A (p.Thr1133=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1062934	NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)	JAG1 (T1133M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1359647	NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser)	JAG1 (A1131S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 536530	NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)	JAG1 (A1131T)	Single nucleotide variant (missense variant)	JAG1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2415625	NM_000214.3(JAG1):c.3390G>A (p.Gly1130=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 898774	NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)	JAG1 (H1129N)	Single nucleotide variant (missense variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GConflicting classifications of pathogenicity
Select item 1543538	NM_000214.3(JAG1):c.3381G>A (p.Glu1127=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2722880	NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)	JAG1 (I1126T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1614089	NM_000214.3(JAG1):c.3360C>T (p.Asn1120=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1396793	NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro)	JAG1 (Q1118P)	Indel (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 501666	NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln)	JAG1 (R1116Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 500687	NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)	JAG1 (R1116W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 337746	NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)	JAG1 (V1115M)	Single nucleotide variant (missense variant)	Isolated Nonsyndromic Congenital Heart Disease +3 more	GConflicting classifications of pathogenicity
Select item 288153	NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2001850	NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp)	JAG1 (N1114D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1025489	NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr)	JAG1 (N1113T)	Single nucleotide variant (missense variant)	JAG1-related condition +1 more	GUncertain significance
Select item 515551	NM_000214.3(JAG1):c.3333C>T (p.Thr1111=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +4 more	GBenign/Likely benign
Select item 2133769	NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala)	JAG1 (T1111A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1047239	NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)	JAG1 (N1110S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 287496	NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)	JAG1 (N1110T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2791347	NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp)	JAG1 (N1110D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1020988	NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr)	JAG1 (D1109Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1523248	NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe)	JAG1 (S1107F)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1989292	NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly)	JAG1 (A1106G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1921808	NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)	JAG1 (S1105T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1064265	NM_000214.3(JAG1):c.3311A>T (p.His1104Leu)	JAG1 (H1104L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1730040	NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GBenign/Likely benign
Select item 1077303	NM_000214.3(JAG1):c.3309A>G (p.Thr1103=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 195926	NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)	JAG1 (T1103I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1372018	NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala)	JAG1 (T1103A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2174201	NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)	JAG1 (S1101N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 337747	NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +2 more	GConflicting classifications of pathogenicity
Select item 1465784	NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup)	JAG1	Duplication (inframe_insertion)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 497732	NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu)	JAG1 (P1099L)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1020832	NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)	JAG1	Deletion (inframe_deletion)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance

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