182[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
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 898711	NM_000214.3(JAG1):c.*1668A>C	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337714	NM_000214.3(JAG1):c.*1637A>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 898712	NM_000214.3(JAG1):c.*1612G>A	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337715	NM_000214.3(JAG1):c.*1572A>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GBenign
Select item 898713	NM_000214.3(JAG1):c.*1551C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337716	NM_000214.3(JAG1):c.*1531TG[1]	JAG1	Microsatellite (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337717	NM_000214.3(JAG1):c.*1511dup	JAG1	Duplication (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GLikely benign
Select item 337718	NM_000214.3(JAG1):c.*1493A>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 895738	NM_000214.3(JAG1):c.*1440A>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337719	NM_000214.3(JAG1):c.*1224G>A	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337720	NM_000214.3(JAG1):c.1212_1214del	JAG1	Deletion (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GUncertain significance
Select item 337721	NM_000214.3(JAG1):c.*1206del	JAG1	Deletion (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 337722	NM_000214.3(JAG1):c.1133_1136del	JAG1	Deletion (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GUncertain significance
Select item 337723	NM_000214.3(JAG1):c.*1132T>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 337724	NM_000214.3(JAG1):c.1093_1097del	JAG1	Deletion (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GUncertain significance
Select item 337725	NM_000214.3(JAG1):c.*1084G>C	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 337727	NM_000214.3(JAG1):c.*970T>C	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337726	NM_000214.3(JAG1):c.*959GTTT[2]	JAG1	Microsatellite (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337728	NM_000214.3(JAG1):c.*914G>A	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 895739	NM_000214.3(JAG1):c.*881C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337729	NM_000214.3(JAG1):c.*856dup	JAG1	Duplication (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 337730	NM_000214.3(JAG1):c.*756A>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 337731	NM_000214.3(JAG1):c.*644AAT[1]	JAG1	Microsatellite (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GUncertain significance
Select item 337732	NM_000214.3(JAG1):c.*641C>A	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337733	NM_000214.3(JAG1):c.*619C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 896021	NM_000214.3(JAG1):c.*587T>C	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337734	NM_000214.3(JAG1):c.563_565del	JAG1	Deletion (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GLikely benign
Select item 896022	NM_000214.3(JAG1):c.*521T>C	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337735	NM_000214.3(JAG1):c.*486del	JAG1	Deletion (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GBenign
Select item 337736	NM_000214.3(JAG1):c.*401C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337737	NM_000214.3(JAG1):c.*398T>C	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337738	NM_000214.3(JAG1):c.*378T>G	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337739	NM_000214.3(JAG1):c.*297C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 337740	NM_000214.3(JAG1):c.*253C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease +1 more	GUncertain significance
Select item 337741	NM_000214.3(JAG1):c.*21C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GLikely benign
Select item 897615	NM_000214.3(JAG1):c.*18C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Isolated Nonsyndromic Congenital Heart Disease	GUncertain significance
Select item 596594	NM_000214.3(JAG1):c.*9G>A	JAG1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3036815	NM_000214.3(JAG1):c.*8C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	JAG1-related disorder	GLikely benign
Select item 598431	NM_000214.3(JAG1):c.*7G>A	JAG1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 337742	NM_000214.3(JAG1):c.*6C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	JAG1-related disorder +1 more	GBenign/Likely benign
Select item 246431	NM_000214.3(JAG1):c.*2A>G	JAG1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1733617	NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu)	JAG1 (V1218E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 500525	NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)	JAG1 (V1218I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +6 more	GConflicting classifications of pathogenicity
Select item 3036992	NM_000214.3(JAG1):c.3651C>A (p.Ile1217=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 289034	NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +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 2446317	NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter)	JAG1 (Y1216*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2336176	NM_000214.3(JAG1):c.3644A>C (p.Glu1215Ala)	JAG1 (E1215A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 2452645	NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val)	JAG1 (E1206V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230625	NM_000214.3(JAG1):c.3606C>T (p.Asn1202=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3230624	NM_000214.3(JAG1):c.3603C>T (p.Asp1201=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230623	NM_000214.3(JAG1):c.3600G>A (p.Gln1200=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2631241	NM_000214.3(JAG1):c.3590C>A (p.Thr1197Lys)	JAG1 (T1197K)	Single nucleotide variant (missense variant)	JAG1-related disorder	GUncertain significance
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)	Alagille syndrome due to a JAG1 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 1732902	NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu)	JAG1 (P1194L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732851	NM_000214.3(JAG1):c.3579C>G (p.His1193Gln)	JAG1 (H1193Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2386856	NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)	JAG1 (P1190L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +1 more	GConflicting classifications of pathogenicity
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 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 2652204	NM_000214.3(JAG1):c.3564C>T (p.Gly1188=)	JAG1	Single nucleotide variant (synonymous variant)	not provided	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 +4 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)	Cardiovascular phenotype +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 1732654	NM_000214.3(JAG1):c.3558C>T (p.Pro1186=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2442559	NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu)	JAG1 (P1186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3230622	NM_000214.3(JAG1):c.3556C>T (p.Pro1186Ser)	JAG1 (P1186S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 337744	NM_000214.3(JAG1):c.3555C>T (p.Pro1185=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 2566901	NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val)	JAG1 (E1182V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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

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