ClinVar for MedGen (Select 355614) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1660001	NM_000214.3(JAG1):c.1570-20G>A	JAG1	Single nucleotide variant (intron variant)	Deafness, congenital heart defects, and posterior embryotoxon +3 more	GBenign/Likely benign
Select item 1643557	NM_000214.3(JAG1):c.2228-13T>G	JAG1	Single nucleotide variant (intron variant)	Deafness, congenital heart defects, and posterior embryotoxon +3 more	GLikely benign
Select item 1642698	NM_000214.3(JAG1):c.1797T>C (p.Cys599=)	JAG1	Single nucleotide variant (synonymous variant)	Deafness, congenital heart defects, and posterior embryotoxon +5 more	GBenign/Likely benign
Select item 1630633	NM_000214.3(JAG1):c.1349-7T>A	JAG1	Single nucleotide variant (intron variant)	Deafness, congenital heart defects, and posterior embryotoxon +3 more	GLikely benign
Select item 1607653	NM_000214.3(JAG1):c.2916+17G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1600686	NM_000214.3(JAG1):c.2344+17del	JAG1	Deletion (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GBenign/Likely benign
Select item 1599523	NM_000214.3(JAG1):c.694+4TG[8]	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GBenign/Likely benign
Select item 1583077	NM_000214.3(JAG1):c.1885+12T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1581620	NM_000214.3(JAG1):c.819C>T (p.His273=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1569637	NM_000214.3(JAG1):c.1120+11T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1562213	NM_000214.3(JAG1):c.2345-10T>G	JAG1	Single nucleotide variant (intron variant)	JAG1-related condition +4 more	GLikely benign
Select item 1549663	NM_000214.3(JAG1):c.975T>G (p.Pro325=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1538354	NM_000214.3(JAG1):c.2682+20G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1513270	NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)	JAG1 (D1037N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GConflicting classifications of pathogenicity
Select item 1498899	NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr)	JAG1 (K771T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1497172	NM_000214.3(JAG1):c.1349-19_1349-17del	JAG1	Microsatellite (intron variant)	JAG1-related condition +4 more	GLikely benign
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 1487922	NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)	JAG1 (M443I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1487741	NM_000214.3(JAG1):c.1720+16dup	JAG1	Duplication (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1480052	NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn)	JAG1 (D684N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
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 1445033	NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)	JAG1 (T106A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1434353	NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)	JAG1 (I920F)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1431704	NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)	JAG1 (P1006L)	Single nucleotide variant (missense variant)	Stroke disorder +4 more	GConflicting classifications of pathogenicity
Select item 1387689	NM_000214.3(JAG1):c.2372+13T>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1358646	NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)	JAG1 (A424T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1345181	NM_000214.3(JAG1):c.418G>A (p.Asp140Asn)	JAG1 (D140N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
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 1266234	NM_000214.3(JAG1):c.1707G>A (p.Thr569=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 1169860	NM_000214.3(JAG1):c.414G>A (p.Ala138=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 1168106	NM_000214.3(JAG1):c.3141G>A (p.Ser1047=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GBenign/Likely benign
Select item 1167792	NM_000214.3(JAG1):c.2227+17C>T	JAG1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1164343	NM_000214.3(JAG1):c.1396-27TC[6]	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GBenign/Likely benign
Select item 1158048	NM_000214.3(JAG1):c.2499G>A (p.Ala833=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1152785	NM_000214.3(JAG1):c.493C>T (p.Arg165Trp)	JAG1 (R165W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1147881	NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)	JAG1 (A833T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1137928	NM_000214.3(JAG1):c.2573-15G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1137711	NM_000214.3(JAG1):c.2250C>T (p.Pro750=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1133398	NM_000214.3(JAG1):c.1608C>T (p.Asn536=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GLikely benign
Select item 1128925	NM_000214.3(JAG1):c.120G>C (p.Leu40=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1124192	NM_000214.3(JAG1):c.1720+16C>T	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1106210	NM_000214.3(JAG1):c.1720+17G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1103901	NM_000214.3(JAG1):c.1383C>T (p.Asp461=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1088960	NM_000214.3(JAG1):c.993C>T (p.Pro331=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1080502	NM_000214.3(JAG1):c.3237G>C (p.Val1079=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	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 1060160	NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)	JAG1 (P901T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
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 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 1046663	NM_000214.3(JAG1):c.978G>A (p.Glu326=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1039967	NM_000214.3(JAG1):c.86G>C (p.Cys29Ser)	JAG1 (C29S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1037966	NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)	JAG1 (R117G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
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
Select item 1020741	NM_000214.3(JAG1):c.322A>C (p.Asn108His)	JAG1 (N108H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1018280	NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)	JAG1 (D489N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1011417	NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)	JAG1 (P943L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1005101	NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)	JAG1 (S971P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 996271	NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)	JAG1 (R805W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +5 more	GUncertain significance
Select item 988259	NM_000214.3(JAG1):c.323A>T (p.Asn108Ile)	JAG1 (N108I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 971076	NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)	JAG1 (D872G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GConflicting classifications of pathogenicity
Select item 967915	NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)	JAG1 (G290S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +4 more	GUncertain significance
Select item 964672	NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)	JAG1 (R1096Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +4 more	GUncertain significance
Select item 946908	NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)	JAG1 (P402R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 940114	NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)	JAG1 (K612R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GConflicting classifications of pathogenicity
Select item 934979	NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)	JAG1 (R1022Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
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 898903	NM_000214.3(JAG1):c.331G>A (p.Ala111Thr)	JAG1 (A111T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GUncertain significance
Select item 896225	NM_000214.3(JAG1):c.-75A>G	JAG1	Single nucleotide variant (5 prime UTR variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GUncertain significance
Select item 844418	NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)	JAG1 (E1003K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 841934	NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)	JAG1 (T931I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 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 598515	NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)	JAG1 (D1043N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 598457	NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)	JAG1	Microsatellite (nonsense)	Alagille syndrome due to a JAG1 point mutation +4 more	GPathogenic
Select item 598325	NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)	JAG1 (Q83R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GConflicting classifications of pathogenicity
Select item 596796	NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)	JAG1 (I1000V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +6 more	GUncertain significance
Select item 595315	NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)	JAG1 (D437N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 594538	NM_000214.3(JAG1):c.314A>G (p.Asn105Ser)	JAG1 (N105S)	Single nucleotide variant (missense variant)	not provided +4 more	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 594387	NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)	JAG1 (R2L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +5 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 593274	NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)	JAG1 (R465W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GUncertain significance
Select item 573016	NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)	JAG1 (G456D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 501152	NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)	JAG1 (P552L)	Single nucleotide variant (missense variant)	Deafness, congenital heart defects, and posterior embryotoxon +7 more	GBenign/Likely benign
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 499992	NM_000214.3(JAG1):c.521C>T (p.Thr174Met)	JAG1 (T174M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 498358	NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)	JAG1 (R7C)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GConflicting classifications of pathogenicity
Select item 468658	NM_000214.3(JAG1):c.3039T>C (p.His1013=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 468657	NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)	JAG1 (P943S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
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 414163	NM_000214.3(JAG1):c.439+10G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +6 more	GBenign/Likely benign
Select item 337759	NM_000214.3(JAG1):c.388-4G>C	JAG1	Single nucleotide variant (intron variant)	Isolated Nonsyndromic Congenital Heart Disease +7 more	GBenign/Likely benign
Select item 337758	NM_000214.3(JAG1):c.526G>A (p.Val176Ile)	JAG1 (V176I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 337756	NM_000214.3(JAG1):c.1344C>T (p.Asp448=)	JAG1	Single nucleotide variant (synonymous variant)	Isolated Nonsyndromic Congenital Heart Disease +6 more	GLikely benign
Select item 337752	NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)	JAG1 (R744Q)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +8 more	GBenign/Likely benign
Select item 337751	NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)	JAG1 (T767M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 289536	NM_000214.3(JAG1):c.2073T>C (p.Cys691=)	JAG1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 288714	NM_000214.3(JAG1):c.56C>T (p.Ala19Val)	JAG1 (A19V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GUncertain significance
Select item 255560	NM_000214.3(JAG1):c.400T>C (p.Leu134=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 255555	NM_000214.3(JAG1):c.2916+27del	JAG1	Deletion (intron variant)	not specified +4 more	GBenign

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