JAG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	MIR4710, MIR5195 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	LOC130056667, LOC130056668 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 more	Copy number loss	See cases	GUncertain significance
Select item 3033613	NM_002226.5(JAG2):c.*4C>T	JAG2	Single nucleotide variant (3 prime UTR variant)	JAG2-related disorder	GLikely benign
Select item 3040430	NM_002226.5(JAG2):c.3706G>A (p.Gly1236Ser)	JAG2 (G1198S +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GLikely benign
Select item 725844	NM_002226.5(JAG2):c.3703G>A (p.Ala1235Thr)	JAG2 (A1235T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3112134	NM_002226.5(JAG2):c.3689A>G (p.Asn1230Ser)	JAG2 (N1192S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112133	NM_002226.5(JAG2):c.3653G>T (p.Gly1218Val)	JAG2 (G1180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030536	NM_002226.5(JAG2):c.3639C>T (p.Ala1213=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3034491	NM_002226.5(JAG2):c.3636G>A (p.Pro1212=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3036459	NM_002226.5(JAG2):c.3635C>T (p.Pro1212Leu)	JAG2 (P1174L +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GLikely benign
Select item 3112132	NM_002226.5(JAG2):c.3620G>A (p.Arg1207His)	JAG2 (R1207H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204652	NM_002226.5(JAG2):c.3605C>T (p.Thr1202Ile)	JAG2 (T1164I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644899	NM_002226.5(JAG2):c.3591C>T (p.Leu1197=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2305760	NM_002226.5(JAG2):c.3561G>C (p.Glu1187Asp)	JAG2 (E1187D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112131	NM_002226.5(JAG2):c.3541G>A (p.Glu1181Lys)	JAG2 (E1143K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340277	NM_002226.5(JAG2):c.3538G>A (p.Asp1180Asn)	JAG2 (D1180N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112130	NM_002226.5(JAG2):c.3537G>C (p.Glu1179Asp)	JAG2 (E1179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683282	NM_002226.5(JAG2):c.3520G>A (p.Val1174Ile)	JAG2 (V1136I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602209	NM_002226.5(JAG2):c.3514G>T (p.Ala1172Ser)	JAG2 (A1134S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360233	NM_002226.5(JAG2):c.3514G>A (p.Ala1172Thr)	JAG2 (A1134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394839	NM_002226.5(JAG2):c.3503C>T (p.Pro1168Leu)	JAG2 (P1130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112129	NM_002226.5(JAG2):c.3482C>T (p.Ala1161Val)	JAG2 (A1123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464232	NM_002226.5(JAG2):c.3475C>T (p.Arg1159Cys)	JAG2 (R1121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644900	NM_002226.5(JAG2):c.3471G>A (p.Pro1157=)	JAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3057429	NM_002226.5(JAG2):c.3468G>A (p.Pro1156=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 2260028	NM_002226.5(JAG2):c.3467C>T (p.Pro1156Leu)	JAG2 (P1156L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466806	NM_002226.5(JAG2):c.3439G>A (p.Val1147Met)	JAG2 (V1109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034021	NM_002226.5(JAG2):c.3424G>A (p.Gly1142Arg)	JAG2 (G1104R +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GLikely benign
Select item 3040823	NM_002226.5(JAG2):c.3423G>A (p.Pro1141=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 1301293	NM_002226.5(JAG2):c.3414T>C (p.Ile1138=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779742	NM_002226.5(JAG2):c.3390G>A (p.Pro1130=)	JAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2303289	NM_002226.5(JAG2):c.3389C>T (p.Pro1130Leu)	JAG2 (P1130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728405	NM_002226.5(JAG2):c.3369C>T (p.Ser1123=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770429	NM_002226.5(JAG2):c.3349C>T (p.Arg1117Trp)	JAG2 (R1079W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2264358	NM_002226.5(JAG2):c.3329G>A (p.Arg1110Lys)	JAG2 (R1110K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630450	NM_002226.5(JAG2):c.3307G>T (p.Val1103Leu)	JAG2 (V1065L +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GUncertain significance
Select item 753777	NM_002226.5(JAG2):c.3291G>A (p.Ala1097=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788143	NM_002226.5(JAG2):c.3224C>T (p.Thr1075Met)	JAG2 (T1037M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 785472	NM_002226.5(JAG2):c.3219T>G (p.Val1073=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign/Likely benign
Select item 3050022	NM_002226.5(JAG2):c.3156C>T (p.Ala1052=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 755933	NM_002226.5(JAG2):c.3153C>T (p.Ala1051=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713285	NM_002226.5(JAG2):c.3132C>T (p.Gly1044=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign
Select item 2468719	NM_002226.5(JAG2):c.3113A>G (p.Asp1038Gly)	JAG2 (D1000G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605963	NM_002226.5(JAG2):c.3095C>T (p.Pro1032Leu)	JAG2 (P1032L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349303	NM_002226.5(JAG2):c.3056C>T (p.Ser1019Leu)	JAG2 (S981L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047507	NM_002226.5(JAG2):c.3050C>T (p.Ala1017Val)	JAG2 (A1017V +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GLikely benign
Select item 3063894	NM_002226.5(JAG2):c.3046C>T (p.Arg1016Trp)	JAG2 (R1016W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572984	NM_002226.5(JAG2):c.3004A>G (p.Arg1002Gly)	JAG2 (R1002G +1 more)	Single nucleotide variant (missense variant)	Mendelian syndromes with cleft lip/palate	GUncertain significance
Select item 3112126	NM_002226.5(JAG2):c.2987G>A (p.Arg996His)	JAG2 (R958H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382667	NM_002226.5(JAG2):c.2980G>A (p.Gly994Arg)	JAG2 (G994R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376018	NM_002226.5(JAG2):c.2968G>A (p.Ala990Thr)	JAG2 (A952T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051333	NM_002226.5(JAG2):c.2952+6G>A	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
Select item 2373490	NM_002226.5(JAG2):c.2944G>A (p.Val982Met)	JAG2 (V982M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366838	NM_002226.5(JAG2):c.2936G>A (p.Arg979His)	JAG2 (R979H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632118	NM_002226.5(JAG2):c.2935C>T (p.Arg979Cys)	JAG2 (R941C +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder +1 more	GUncertain significance
Select item 1677285	NM_002226.5(JAG2):c.2930T>C (p.Phe977Ser)	JAG2 (F939S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 2265025	NM_002226.5(JAG2):c.2926C>T (p.His976Tyr)	JAG2 (H976Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049995	NM_002226.5(JAG2):c.2923T>C (p.Leu975=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3051483	NM_002226.5(JAG2):c.2889C>T (p.Ser963=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 2597748	NM_002226.5(JAG2):c.2885G>A (p.Arg962His)	JAG2 (R924H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523946	NM_002226.5(JAG2):c.2884C>T (p.Arg962Cys)	JAG2 (R962C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787420	NM_002226.5(JAG2):c.2851G>A (p.Ala951Thr)	JAG2 (A951T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741228	NM_002226.5(JAG2):c.2850C>T (p.Gly950=)	JAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2316085	NM_002226.5(JAG2):c.2833G>A (p.Ala945Thr)	JAG2 (A945T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742369	NM_002226.5(JAG2):c.2781G>A (p.Gly927=)	JAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775351	NM_002226.5(JAG2):c.2763C>T (p.Ser921=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign/Likely benign
Select item 3112124	NM_002226.5(JAG2):c.2743G>A (p.Gly915Ser)	JAG2 (G877S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222570	NM_002226.5(JAG2):c.2633C>T (p.Pro878Leu)	JAG2 (P840L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321825	NM_002226.5(JAG2):c.2627G>A (p.Gly876Asp)	JAG2 (G838D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049044	NM_002226.5(JAG2):c.2623C>T (p.Arg875Trp)	JAG2 (R837W +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3031033	NM_002226.5(JAG2):c.2593+9C>G	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign

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