"PreventionGenetics, part of Exact Sciences"[submitter] AND "JAG2"[gen - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2644900	NM_002226.5(JAG2):c.3471G>A (p.Pro1157=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +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 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 779742	NM_002226.5(JAG2):c.3390G>A (p.Pro1130=)	JAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 713285	NM_002226.5(JAG2):c.3132C>T (p.Gly1044=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign
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 3051333	NM_002226.5(JAG2):c.2952+6G>A	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
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 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 741228	NM_002226.5(JAG2):c.2850C>T (p.Gly950=)	JAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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
Select item 3055733	NM_002226.5(JAG2):c.2502G>A (p.Ser834=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GBenign
Select item 3039536	NM_002226.5(JAG2):c.2459C>T (p.Ala820Val)	JAG2 (A782V +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GLikely benign
Select item 3035098	NM_002226.5(JAG2):c.2394-6C>T	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
Select item 3044802	NM_002226.5(JAG2):c.2365+6T>C	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GBenign
Select item 714589	NM_002226.5(JAG2):c.2337C>T (p.Asp779=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign/Likely benign
Select item 3036146	NM_002226.5(JAG2):c.2249-8C>A	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
Select item 3043282	NM_002226.5(JAG2):c.2249-21CTC[3]	JAG2	Microsatellite (intron variant)	JAG2-related disorder	GLikely benign
Select item 3059314	NM_002226.5(JAG2):c.2063G>A (p.Arg688His)	JAG2 (R650H +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GBenign
Select item 3047425	NM_002226.5(JAG2):c.2028C>T (p.Asn676=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3052967	NM_002226.5(JAG2):c.2013C>T (p.Cys671=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3041750	NM_002226.5(JAG2):c.1956C>T (p.Ile652=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3051334	NM_002226.5(JAG2):c.1821C>T (p.Gly607=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3051413	NM_002226.5(JAG2):c.1812C>T (p.Gly604=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3050941	NM_002226.5(JAG2):c.1753+8G>A	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
Select item 3040135	NM_002226.5(JAG2):c.1603-7C>T	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
Select item 2633432	NM_002226.5(JAG2):c.1588G>C (p.Gly530Arg)	JAG2 (G492R +1 more)	Single nucleotide variant (missense variant)	JAG2-related disorder	GUncertain significance
Select item 3043367	NM_002226.5(JAG2):c.1551C>T (p.Ala517=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 787112	NM_002226.5(JAG2):c.1545C>T (p.Asp515=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign
Select item 3029553	NM_002226.5(JAG2):c.1489C>T (p.Leu497=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3044151	NM_002226.5(JAG2):c.1429-6G>A	JAG2, MIR6765	Single nucleotide variant (non-coding transcript variant +1 more)	JAG2-related disorder	GLikely benign
Select item 3047208	NM_002226.5(JAG2):c.1429-7C>T	JAG2, MIR6765	Single nucleotide variant (non-coding transcript variant +1 more)	JAG2-related disorder	GLikely benign
Select item 3043156	NM_002226.5(JAG2):c.1382-6C>T	JAG2	Single nucleotide variant (intron variant)	JAG2-related disorder	GLikely benign
Select item 713522	NM_002226.5(JAG2):c.1107C>T (p.Phe369=)	JAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3032910	NM_002226.5(JAG2):c.1101C>T (p.Ser367=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3038973	NM_002226.5(JAG2):c.900C>T (p.Gly300=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 791189	NM_002226.5(JAG2):c.890C>T (p.Thr297Ile)	JAG2 (T297I)	Single nucleotide variant (missense variant)	JAG2-related disorder +1 more	GBenign
Select item 718199	NM_002226.5(JAG2):c.645C>T (p.Asn215=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign
Select item 2644904	NM_002226.5(JAG2):c.642C>T (p.Arg214=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GLikely benign
Select item 3053714	NM_002226.5(JAG2):c.612C>T (p.Ser204=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3051605	NM_002226.5(JAG2):c.522G>A (p.Pro174=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3054236	NM_002226.5(JAG2):c.402C>T (p.Phe134=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3037608	NM_002226.5(JAG2):c.390C>T (p.Val130=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 714526	NM_002226.5(JAG2):c.306C>T (p.Ser102=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder +1 more	GBenign
Select item 3046543	NM_002226.5(JAG2):c.189C>T (p.Gly63=)	JAG2	Single nucleotide variant (synonymous variant)	JAG2-related disorder	GLikely benign
Select item 3053085	NM_002226.5(JAG2):c.-7G>A	JAG2	Single nucleotide variant (5 prime UTR variant)	JAG2-related disorder	GLikely benign

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Items: 60