Related gene-specific medical variations for Gene (Select 182) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237483	NM_000214.3(JAG1):c.2393T>C (p.Val798Ala)	JAG1 (V798A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3069156	NM_000214.3(JAG1):c.1813del (p.Cys605fs)	JAG1 (C605fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3065549	NM_000214.3(JAG1):c.1644del (p.Cys549fs)	JAG1 (C549fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3065250	NM_000214.3(JAG1):c.2938T>G (p.Cys980Gly)	JAG1 (C980G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3064517	NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)	JAG1 (Q166*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3064449	NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs)	JAG1 (G696fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3064202	NM_000214.3(JAG1):c.755+6T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3062314	NM_000214.3(JAG1):c.387+1G>C	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3062231	NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)	JAG1 (W404*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2582658	NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)	JAG1 (I120T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2582405	NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)	JAG1 (W288*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2579128	NM_000214.3(JAG1):c.2406del (p.Trp803fs)	JAG1 (W803fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2576124	NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter)	JAG1 (L1077*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2574665	NM_000214.3(JAG1):c.2458+2_2458+4del	JAG1	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2574664	NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)	JAG1 (C251*)	Single nucleotide variant	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2574663	NM_000214.3(JAG1):c.2026del (p.Cys676fs)	JAG1 (C676fs)	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2574662	NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)	JAG1 (N585fs)	Deletion	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2573077	NM_000214.3(JAG1):c.2459-2A>G	JAG1	Single nucleotide variant (splice acceptor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2573014	NM_000214.3(JAG1):c.695-1G>C	JAG1	Single nucleotide variant (splice acceptor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2441942	NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)	JAG1 (G309W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2432940	NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr)	JAG1 (A583T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432939	NM_000214.3(JAG1):c.18G>C (p.Thr6=)	JAG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432938	NM_000214.3(JAG1):c.755G>A (p.Arg252Lys)	JAG1 (R252K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107939	NM_000214.3(JAG1):c.1235-18A>T	JAG1, MIR6870	Single nucleotide variant (non-coding transcript variant +1 more)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 1710295	t(4;20)(q22.1;p12.2)	FAM13A, JAG1	Translocation	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1706615	NM_000214.3(JAG1):c.74dup (p.Ala26fs)	JAG1 (A26fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1706614	NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)	JAG1 (C234*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1706613	NM_000214.3(JAG1):c.341del (p.Gly114fs)	JAG1 (G114fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1706612	NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)	JAG1 (E36K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1706611	NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs)	JAG1 (D72fs)	Indel (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1706610	NM_000214.3(JAG1):c.699_700del (p.Ile233fs)	JAG1 (I233fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1706609	NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu)	JAG1	Deletion (inframe_indel)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1706603	NM_000214.3(JAG1):c.2210del (p.Gly737fs)	JAG1 (G737fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1703197	NM_000214.3(JAG1):c.912del (p.Gln304fs)	JAG1 (Q304fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1344644	NM_000214.3(JAG1):c.2956_2957dup (p.Leu986fs)	JAG1 (L986fs)	Duplication (frameshift variant)	Hepatic Ductular Hypoplasia	GLikely pathogenic
Select item 1344643	NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg)	JAG1 (C880R)	Single nucleotide variant (missense variant)	Hepatic Ductular Hypoplasia	GLikely pathogenic
Select item 1341895	NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter)	JAG1 (C551*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1323132	NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter)	JAG1 (Q410*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1323131	NM_000214.3(JAG1):c.384G>A (p.Trp128Ter)	JAG1 (W128*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1251969	NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del	JAG1	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1203549	NM_000214.3(JAG1):c.1120+305A>G	JAG1, LOC125384580	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194278	NM_000214.3(JAG1):c.1120+252A>G	JAG1, LOC125384580	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 974780	NM_000214.3(JAG1):c.2278del (p.Val760fs)	JAG1 (V760fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 931652	NM_000214.3(JAG1):c.289G>C (p.Gly97Arg)	JAG1 (G97R)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 931651	NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)	JAG1 (A538V)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 931055	NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)	JAG1 (V1086M)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 930690	NM_000214.3(JAG1):c.228del (p.Val77fs)	JAG1 (V77fs)	Deletion (frameshift variant)	Tetralogy of Fallot	GPathogenic
Select item 916460	NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs)	JAG1 (I1082fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 816704	NM_000214.3(JAG1):c.233G>C (p.Cys78Ser)	JAG1 (C78S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	Gnot provided
Select item 816703	NM_000214.3(JAG1):c.232T>G (p.Cys78Gly)	JAG1 (C78G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	Gnot provided
Select item 816702	NM_000214.3(JAG1):c.232T>C (p.Cys78Arg)	JAG1 (C78R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	Gnot provided
Select item 811421	NM_000214.3(JAG1):c.772C>G (p.Gln258Glu)	JAG1 (Q258E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809227	NM_000214.3(JAG1):c.236_251del (p.Leu79fs)	JAG1 (L79fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 684682	NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)	JAG1 (K698fs)	Insertion (frameshift variant)	Atypical coarctation of aorta	GLikely pathogenic
Select item 684681	NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)	JAG1 (C438Y)	Single nucleotide variant (missense variant)	Atypical coarctation of aorta	GLikely pathogenic
Select item 619084	NM_000214.3(JAG1):c.2385del (p.Thr796fs)	JAG1 (T796fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 590995	NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs)	JAG1 (H483fs)	Indel (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 522675	NM_000214.3(JAG1):c.2113+5G>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 445918	NM_000214.3(JAG1):c.387+2T>C	JAG1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 431377	NM_000214.3(JAG1):c.71T>C (p.Leu24Pro)	JAG1 (L24P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 255558	NM_000214.3(JAG1):c.3048+30_3048+32del	JAG1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 255550	NM_000214.3(JAG1):c.1720+5C>T	JAG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255546	NM_000214.3(JAG1):c.1234+21_1234+22del	JAG1	Deletion (intron variant)	not specified	GLikely benign
Select item 253515	GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1	JAG1	Copy number loss	See cases	GPathogenic
Select item 7628	JAG1, 1329, T-G, +2	JAG1	Single nucleotide variant	Alagille syndrome due to a JAG1 point mutation	GPathogenic

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Links from Gene

Items: 65