C0039685[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 43920	NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)	ACTN2 (A644T +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1308506	NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu)	NKX2-5 (G298E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypothyroidism, congenital, nongoitrous, 5 +6 more	GUncertain significance
Select item 520891	NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)	NKX2-5 (G298fs)	Duplication (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 859947	NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)	NKX2-5 (F295L)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 410969	NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)	NKX2-5 (N291del)	Microsatellite (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 378275	NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GLikely benign
Select item 30115	NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)	NKX2-5 (P283Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 837477	NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)	NKX2-5 (A281E)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 580887	NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)	NKX2-5 (P275T)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GLikely benign
Select item 159257	NM_004387.4(NKX2-5):c.783del (p.Ala262fs)	NKX2-5 (A262fs)	Deletion (3 prime UTR variant +1 more)	NKX2-5-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 283727	NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr)	NKX2-5 (P257T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GUncertain significance
Select item 519318	NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys)	NKX2-5 (N251K)	Single nucleotide variant (3 prime UTR variant +1 more)	Tetralogy of Fallot +6 more	GUncertain significance
Select item 9011	NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)	NKX2-5 (A219V)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 1016187	NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)	NKX2-5 (R217K)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 9010	NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)	NKX2-5 (R216C)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 1061973	NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup)	NKX2-5	Microsatellite (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 862013	NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg)	NKX2-5 (P212R)	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3 +6 more	GUncertain significance
Select item 681683	NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +7 more	GLikely benign
Select item 190835	NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro)	NKX2-5 (R197P)	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +7 more	GUncertain significance
Select item 1021042	NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly)	NKX2-5 (V174G)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1377875	NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)	NKX2-5 (Q170H)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1437112	NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)	NKX2-5 (A165V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GUncertain significance
Select item 517696	NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +8 more	GLikely benign
Select item 518495	NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile)	NKX2-5 (V150I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GUncertain significance
Select item 939551	NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)	NKX2-5 (N129K)	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +6 more	GConflicting classifications of pathogenicity
Select item 1439076	NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu)	NKX2-5 (K124E)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 372743	NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)	NKX2-5 (A119E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 190833	NM_004387.4(NKX2-5):c.335-162G>A	NKX2-5 (R143Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +7 more	GBenign/Likely benign
Select item 1022958	NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)	NKX2-5 (A83G)	Single nucleotide variant (missense variant)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 850796	NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)	NKX2-5 (A63V)	Single nucleotide variant (missense variant)	Atrial septal defect 7 +8 more	GConflicting classifications of pathogenicity
Select item 1019319	NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)	NKX2-5 (E60Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1021433	NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)	NKX2-5 (A57S)	Single nucleotide variant (missense variant)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 505440	NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)	NKX2-5	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 855836	NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp)	NKX2-5 (E32D)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +5 more	GUncertain significance
Select item 468245	NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)	NKX2-5 (Q22P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 472776	NM_001308093.3(GATA4):c.263G>T (p.Gly88Val)	GATA4 (G88V)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 1372032	NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)	GATA4 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 472784	NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp)	GATA4 (E313D +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1314160	NM_001308093.3(GATA4):c.1149G>A (p.Gln383=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4 +5 more	GUncertain significance
Select item 239099	NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)	GATA4 (A411V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1197085	NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala)	GATA4 (P165A +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 424039	NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn)	GATA4 (D438N +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 1558608	NM_012082.4(ZFPM2):c.40+12C>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign
Select item 1574529	NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)	LOC126860469, ZFPM2 +1 more (K856T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +3 more	GLikely benign
Select item 540134	NM_005257.6(GATA6):c.233T>C (p.Leu78Pro)	GATA6 (L78P)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GUncertain significance
Select item 1311036	NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)	GATA6 (P87S)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +5 more	GUncertain significance
Select item 863328	NM_005257.6(GATA6):c.367A>G (p.Thr123Ala)	GATA6 (T123A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GUncertain significance
Select item 1583127	NM_005257.6(GATA6):c.525G>T (p.Ala175=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GLikely benign
Select item 999815	NM_005257.6(GATA6):c.660C>T (p.Gly220=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GConflicting classifications of pathogenicity
Select item 700342	NM_005257.6(GATA6):c.735G>A (p.Gly245=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GLikely benign
Select item 540131	NM_005257.6(GATA6):c.839G>C (p.Gly280Ala)	GATA6 (G280A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +5 more	GUncertain significance
Select item 240127	NM_005257.6(GATA6):c.1374C>T (p.Asn458=)	GATA6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +7 more	GBenign/Likely benign
Select item 500525	NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)	JAG1 (V1218I)	Single nucleotide variant (missense variant)	JAG1-related disorder +6 more	GConflicting classifications of pathogenicity
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 681340	NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GLikely benign
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 +4 more	GConflicting classifications of pathogenicity
Select item 1494264	NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)	JAG1 (R1181K)	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)	Isolated Nonsyndromic Congenital Heart Disease +7 more	GBenign/Likely benign
Select item 932283	NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)	JAG1 (R1169Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 424319	NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	JAG1 (V1156A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
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 536530	NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)	JAG1 (A1131T)	Single nucleotide variant (missense variant)	JAG1-related disorder +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 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 213545	NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)	JAG1 (R1097W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GUncertain significance
Select item 964672	NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)	JAG1 (R1096Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GUncertain significance
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 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 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 +5 more	GConflicting classifications of pathogenicity
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 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 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 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 844418	NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)	JAG1 (E1003K)	Single nucleotide variant (missense variant)	JAG1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 596796	NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)	JAG1 (I1000V)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 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 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 468657	NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)	JAG1 (P943S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 213527	NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)	JAG1 (R937Q)	Single nucleotide variant (missense variant)	Isolated Nonsyndromic Congenital Heart Disease +7 more	GBenign/Likely benign
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 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 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 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 234323	NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)	JAG1 (R889Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
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 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 167201	NM_000214.3(JAG1):c.2559C>T (p.Ala853=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +6 more	GBenign/Likely benign
Select item 1158048	NM_000214.3(JAG1):c.2499G>A (p.Ala833=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 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 255552	NM_000214.3(JAG1):c.2459-17A>C	JAG1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
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 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 1562213	NM_000214.3(JAG1):c.2345-10T>G	JAG1	Single nucleotide variant (intron variant)	JAG1-related disorder +4 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 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 234698	NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)	JAG1 (K771R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 337751	NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)	JAG1 (T767M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

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