ClinVar for MedGen (Select 365434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899352	NM_000214.3(JAG1):c.134_154dup (p.Asn51_Gly52insValAsnGlyGluLeuGlnAsn)	JAG1	Duplication (inframe_insertion)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 3899223	NM_000214.3(JAG1):c.1721-178_1721-41delinsTA	JAG1	Indel (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3891427	NM_000214.3(JAG1):c.2555G>A (p.Gly852Asp)	JAG1 (G852D)	Single nucleotide variant (missense variant)	Deafness, congenital heart defects, and posterior embryotoxon +3 more	GUncertain significance
Select item 3730068	NM_000214.3(JAG1):c.1167C>T (p.Cys389=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3727321	NM_000214.3(JAG1):c.590dup (p.Asn197fs)	JAG1 (N197fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3726811	NM_000214.3(JAG1):c.456T>C (p.Ile152=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3726266	NM_000214.3(JAG1):c.3042_3043insAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATGTG (p.Ala1015delinsLysTrpIleHisSerSerThrHisThrLeuSerGlnAspTer)	JAG1	Microsatellite (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3725658	NM_000214.3(JAG1):c.1614C>T (p.Ala538=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3724565	NM_000214.3(JAG1):c.1339del (p.Cys447fs)	JAG1 (C447fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3724248	NM_000214.3(JAG1):c.3087G>A (p.Lys1029=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3723750	NM_000214.3(JAG1):c.1763del (p.Pro588fs)	JAG1 (P588fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3722982	NM_000214.3(JAG1):c.2114-10T>G	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3722105	NM_000214.3(JAG1):c.416G>A (p.Trp139Ter)	JAG1 (W139*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3719750	NM_000214.3(JAG1):c.376T>G (p.Phe126Val)	JAG1 (F126V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3719748	NM_000214.3(JAG1):c.1806C>A (p.His602Gln)	JAG1 (H602Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3719746	NM_000214.3(JAG1):c.2836A>G (p.Thr946Ala)	JAG1 (T946A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3719277	NM_000214.3(JAG1):c.3049-4C>T	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3719079	NM_000214.3(JAG1):c.1886-3T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3718679	NM_000214.3(JAG1):c.2922dup (p.Thr975fs)	JAG1 (T975fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3718023	NM_000214.3(JAG1):c.1349-17A>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3717320	NM_000214.3(JAG1):c.203G>A (p.Arg68His)	JAG1 (R68H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3716375	NM_000214.3(JAG1):c.82-14T>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3715610	NM_000214.3(JAG1):c.3023C>T (p.Ala1008Val)	JAG1 (A1008V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3715210	NM_000214.3(JAG1):c.3353A>T (p.Gln1118Leu)	JAG1 (Q1118L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3714045	NM_000214.3(JAG1):c.2345-20A>G	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3713279	NM_000214.3(JAG1):c.703C>G (p.Arg235Gly)	JAG1 (R235G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3713250	NM_000214.3(JAG1):c.747T>C (p.Gly249=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3712356	NM_000214.3(JAG1):c.1396-27TC[3]	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3711840	NM_000214.3(JAG1):c.1720+4C>T	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3711222	NM_000214.3(JAG1):c.2101A>G (p.Thr701Ala)	JAG1 (T701A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3710344	NM_000214.3(JAG1):c.1815C>T (p.Cys605=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3707982	NM_000214.3(JAG1):c.1827G>A (p.Ser609=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3705818	NM_000214.3(JAG1):c.3349G>A (p.Glu1117Lys)	JAG1 (E1117K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3705213	NM_000214.3(JAG1):c.2246T>G (p.Leu749Arg)	JAG1 (L749R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3703597	NM_000214.3(JAG1):c.337C>G (p.Arg113Gly)	JAG1 (R113G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3702991	NM_000214.3(JAG1):c.413C>T (p.Ala138Val)	JAG1 (A138V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3697010	NM_000214.3(JAG1):c.2227+18G>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3693431	NM_000214.3(JAG1):c.265G>T (p.Gly89Trp)	JAG1 (G89W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3688110	NM_000214.3(JAG1):c.388-13G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3687129	NM_000214.3(JAG1):c.2607G>T (p.Val869=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3687111	NM_000214.3(JAG1):c.1006+13A>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3684926	NM_000214.3(JAG1):c.1570-16T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3684500	NM_000214.3(JAG1):c.3458A>G (p.Asn1153Ser)	JAG1 (N1153S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3683973	NM_000214.3(JAG1):c.2154C>G (p.Gly718=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3683698	NM_000214.3(JAG1):c.3442A>G (p.Lys1148Glu)	JAG1 (K1148E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3674427	NM_000214.3(JAG1):c.2459-18G>T	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3674108	NM_000214.3(JAG1):c.1696C>T (p.His566Tyr)	JAG1 (H566Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3672527	NM_000214.3(JAG1):c.159C>A (p.Asn53Lys)	JAG1 (N53K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3672221	NM_000214.3(JAG1):c.2865G>A (p.Gln955=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3671280	NM_000214.3(JAG1):c.2436T>G (p.Phe812Leu)	JAG1 (F812L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3669685	NM_000214.3(JAG1):c.27G>A (p.Arg9=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3668626	NM_000214.3(JAG1):c.2271C>T (p.Gly757=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 3668406	NM_000214.3(JAG1):c.3642G>A (p.Met1214Ile)	JAG1 (M1214I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3668388	NM_000214.3(JAG1):c.3643G>C (p.Glu1215Gln)	JAG1 (E1215Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3666828	NM_000214.3(JAG1):c.2465A>G (p.Asn822Ser)	JAG1 (N822S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3665414	NM_000214.3(JAG1):c.942C>T (p.Asn314=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3664302	NM_000214.3(JAG1):c.1404dup (p.Asn469Ter)	JAG1 (N469*)	Duplication (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3664212	NM_000214.3(JAG1):c.2421A>G (p.Glu807=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3663873	NM_000214.3(JAG1):c.736A>G (p.Lys246Glu)	JAG1 (K246E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3662858	NM_000214.3(JAG1):c.3200-13G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3662159	NM_000214.3(JAG1):c.2084dup (p.Asn695fs)	JAG1 (N695fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3661694	NM_000214.3(JAG1):c.1721-7C>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3661611	NM_000214.3(JAG1):c.2096_2097dup (p.Lys700fs)	JAG1 (K700fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3661463	NM_000214.3(JAG1):c.3263C>A (p.Ala1088Asp)	JAG1 (A1088D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3661220	NM_000214.3(JAG1):c.2877G>T (p.Ala959=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3660521	NM_000214.3(JAG1):c.3372C>T (p.Asn1124=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3658094	NM_000214.3(JAG1):c.1253C>A (p.Ala418Asp)	JAG1 (A418D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3657069	NM_000214.3(JAG1):c.1570-2A>T	JAG1	Single nucleotide variant (splice acceptor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3656506	NM_000214.3(JAG1):c.1602C>A (p.Cys534Ter)	JAG1 (C534*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3656466	NM_000214.3(JAG1):c.1806_1812del (p.Gly603fs)	JAG1 (G603fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3655666	NM_000214.3(JAG1):c.81+20C>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3654324	NM_000214.3(JAG1):c.379G>T (p.Ala127Ser)	JAG1 (A127S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3653258	NM_000214.3(JAG1):c.2117A>T (p.Asp706Val)	JAG1 (D706V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3651390	NM_000214.3(JAG1):c.1305C>T (p.Tyr435=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3651352	NM_000214.3(JAG1):c.664dup (p.Glu222fs)	JAG1 (E222fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3650415	NM_000214.3(JAG1):c.3474G>T (p.Glu1158Asp)	JAG1 (E1158D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3649995	NM_000214.3(JAG1):c.3071A>G (p.Asp1024Gly)	JAG1 (D1024G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3649825	NM_000214.3(JAG1):c.3215dup (p.Leu1072fs)	JAG1 (L1072fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3649013	NM_000214.3(JAG1):c.1165T>C (p.Cys389Arg)	JAG1 (C389R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3647513	NM_000214.3(JAG1):c.243del (p.Glu81fs)	JAG1 (E81fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3647305	NM_000214.3(JAG1):c.1558A>C (p.Asn520His)	JAG1 (N520H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3647091	NM_000214.3(JAG1):c.1999+1G>A	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3645729	NM_000214.3(JAG1):c.1569+1G>T	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3637684	NM_000214.3(JAG1):c.3636C>A (p.Asn1212Lys)	JAG1 (N1212K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3637354	NM_000214.3(JAG1):c.1725T>C (p.Ile575=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3635063	NM_000214.3(JAG1):c.1605G>A (p.Gln535=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3629727	NM_000214.3(JAG1):c.2992dup (p.Ile998fs)	JAG1 (I998fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3628864	NM_000214.3(JAG1):c.2227+18G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3627692	NM_000214.3(JAG1):c.2344+11T>G	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3627250	NM_000214.3(JAG1):c.387+11_387+13del	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3626250	NM_000214.3(JAG1):c.1120A>G (p.Asn374Asp)	JAG1 (N374D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3624794	NM_000214.3(JAG1):c.3041T>C (p.Val1014Ala)	JAG1 (V1014A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3624681	NM_000214.3(JAG1):c.3038A>G (p.His1013Arg)	JAG1 (H1013R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3624243	NM_000214.3(JAG1):c.1886-20dup	JAG1	Duplication (intron variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 3624190	NM_000214.3(JAG1):c.2345-14T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3622609	NM_000214.3(JAG1):c.1520A>G (p.Asn507Ser)	JAG1 (N507S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3620067	NM_000214.3(JAG1):c.256G>T (p.Val86Phe)	JAG1 (V86F)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3619564	NM_000214.3(JAG1):c.1501C>G (p.His501Asp)	JAG1 (H501D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3619079	NM_000214.3(JAG1):c.226A>C (p.Lys76Gln)	JAG1 (K76Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3617973	NM_000214.3(JAG1):c.1984G>T (p.Ala662Ser)	JAG1 (A662S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance

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