ClinVar for MedGen (Select 365434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3587093	NM_000214.3(JAG1):c.-18GCGGCGC[1]	JAG1	Microsatellite (5 prime UTR variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GLikely benign
Select item 3587091	NM_000214.3(JAG1):c.138dup (p.Gly47fs)	JAG1 (G47fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GLikely pathogenic
Select item 3587090	NM_000214.3(JAG1):c.167G>A (p.Gly56Asp)	JAG1 (G56D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587089	NM_000214.3(JAG1):c.433A>T (p.Thr145Ser)	JAG1 (T145S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587088	NM_000214.3(JAG1):c.542A>G (p.Tyr181Cys)	JAG1 (Y181C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587087	NM_000214.3(JAG1):c.617T>A (p.Phe206Tyr)	JAG1 (F206Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587086	NM_000214.3(JAG1):c.724C>T (p.His242Tyr)	JAG1 (H242Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587085	NM_000214.3(JAG1):c.925G>A (p.Gly309Arg)	JAG1 (G309R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587083	NM_000214.3(JAG1):c.1078T>C (p.Cys360Arg)	JAG1 (C360R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587082	NM_000214.3(JAG1):c.1105C>T (p.Pro369Ser)	JAG1 (P369S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587081	NM_000214.3(JAG1):c.1241A>G (p.Asn414Ser)	JAG1 (N414S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587079	NM_000214.3(JAG1):c.1336A>G (p.Asn446Asp)	JAG1 (N446D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587078	NM_000214.3(JAG1):c.1377G>T (p.Gln459His)	JAG1 (Q459H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587077	NM_000214.3(JAG1):c.1433G>C (p.Gly478Ala)	JAG1 (G478A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587076	NM_000214.3(JAG1):c.1462A>G (p.Ile488Val)	JAG1 (I488V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587075	NM_000214.3(JAG1):c.1499G>T (p.Gly500Val)	JAG1 (G500V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587074	NM_000214.3(JAG1):c.1570-14C>T	JAG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587073	NM_000214.3(JAG1):c.1589A>G (p.Glu530Gly)	JAG1 (E530G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587072	NM_000214.3(JAG1):c.1638C>A (p.Asp546Glu)	JAG1 (D546E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587071	NM_000214.3(JAG1):c.1773G>A (p.Val591=)	JAG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587070	NM_000214.3(JAG1):c.1822C>G (p.Gln608Glu)	JAG1 (Q608E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587069	NM_000214.3(JAG1):c.1885+20G>T	JAG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587068	NM_000214.3(JAG1):c.2069_2071del (p.Tyr690del)	JAG1 (Y690del)	Deletion	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587067	NM_000214.3(JAG1):c.2173G>A (p.Asp725Asn)	JAG1 (D725N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587066	NM_000214.3(JAG1):c.2225T>C (p.Ile742Thr)	JAG1 (I742T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587065	NM_000214.3(JAG1):c.2275T>A (p.Cys759Ser)	JAG1 (C759S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587064	NM_000214.3(JAG1):c.2414G>C (p.Arg805Pro)	JAG1 (R805P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587063	NM_000214.3(JAG1):c.2419G>C (p.Glu807Gln)	JAG1 (E807Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587062	NM_000214.3(JAG1):c.2461A>G (p.Ile821Val)	JAG1 (I821V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587060	NM_000214.3(JAG1):c.3048+7A>G	JAG1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587059	NM_000214.3(JAG1):c.3109G>C (p.Asp1037His)	JAG1 (D1037H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587057	NM_000214.3(JAG1):c.3472G>A (p.Glu1158Lys)	JAG1 (E1158K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3587055	NM_000214.3(JAG1):c.3588G>C (p.Trp1196Cys)	JAG1 (W1196C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 3573410	NM_000214.3(JAG1):c.968C>G (p.Ser323Cys)	JAG1 (S323C)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 3573237	NM_000214.3(JAG1):c.96G>C (p.Ser32=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 3391370	NM_000214.3(JAG1):c.2898_2899dup (p.Lys967fs)	JAG1 (K967fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3391302	NM_000214.3(JAG1):c.3047T>C (p.Ile1016Thr)	JAG1 (I1016T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3382687	NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)	JAG1 (C824*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation +3 more	GPathogenic
Select item 3382554	NM_000214.3(JAG1):c.1731C>A (p.Ser577Arg)	JAG1 (S577R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3382532	NM_000214.3(JAG1):c.1794_1797del (p.Cys599fs)	JAG1 (C599fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation +2 more	GPathogenic
Select item 3377725	NM_000214.3(JAG1):c.2844del (p.Lys947_Cys948insTer)	JAG1	Deletion (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3377296	NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)	JAG1 (Y132*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3377293	NM_000214.3(JAG1):c.1807G>A (p.Gly603Arg)	JAG1 (G603R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3367133	NM_000214.3(JAG1):c.1815_1821delinsAGG (p.Cys605_Ser607delinsTer)	JAG1	Indel (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3362574	NM_000214.3(JAG1):c.2236_2237del (p.Asn745_Ser746insTer)	JAG1	Deletion (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3255583	NM_000214.3(JAG1):c.2547del (p.His850fs)	JAG1 (H850fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3254793	NM_000214.3(JAG1):c.2328dup (p.Pro777fs)	JAG1 (P777fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3253737	NM_000214.3(JAG1):c.2181dup (p.Lys728Ter)	JAG1 (K728*)	Duplication (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3248284	NC_000020.10:g.(?_10620146)_(10620623_?)del	JAG1	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3248283	NC_000020.10:g.(?_7812350)_(10654278_?)del	ANKEF1, HAO1 +9 more	Deletion	Alagille syndrome due to a JAG1 point mutation +1 more	GPathogenic
Select item 3242249	NM_000214.3(JAG1):c.2288G>T (p.Gly763Val)	JAG1 (G763V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3242148	NM_000214.3(JAG1):c.484_486del (p.Asn162del)	JAG1 (N162del)	Deletion (inframe_deletion)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
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 3236653	NM_000214.3(JAG1):c.1729_1732dup (p.Cys578Ter)	JAG1, MIR6870 (C578*)	Duplication (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3236255	NM_000214.3(JAG1):c.11del (p.Pro4fs)	JAG1 (P4fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3230611	NM_000214.3(JAG1):c.1049G>A (p.Ser350Asn)	JAG1 (S350N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	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 3024519	NM_000214.3(JAG1):c.1721-2A>T	JAG1	Single nucleotide variant (splice acceptor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3022297	NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu)	JAG1 (P401L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3019206	NM_000214.3(JAG1):c.2640dup (p.Asn881Ter)	JAG1 (N881*)	Duplication (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3017007	NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)	JAG1 (A874T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 3016165	NM_000214.3(JAG1):c.2228-6T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3016020	NM_000214.3(JAG1):c.288A>G (p.Ser96=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3014215	NM_000214.3(JAG1):c.1785C>T (p.Ser595=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3013288	NM_000214.3(JAG1):c.507G>A (p.Thr169=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3013157	NM_000214.3(JAG1):c.2346T>C (p.Asn782=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 3010824	NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG	JAG1	Indel (intron variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3008490	NM_000214.3(JAG1):c.1368C>T (p.Gly456=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 3006727	NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly)	JAG1 (A432G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 3003068	NM_000214.3(JAG1):c.2616T>C (p.Asp872=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 2998394	NM_000214.3(JAG1):c.61C>G (p.Leu21Val)	JAG1 (L21V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2997223	NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr)	JAG1 (I920T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2994544	NM_000214.3(JAG1):c.2579G>C (p.Gly860Ala)	JAG1 (G860A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2992868	NM_000214.3(JAG1):c.729G>A (p.Gly243=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2991827	NM_000214.3(JAG1):c.388-18_388-17insCAGAG	JAG1	Insertion (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2991826	NM_000214.3(JAG1):c.388-14T>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2986497	NM_000214.3(JAG1):c.665A>G (p.Glu222Gly)	JAG1 (E222G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2985329	NM_000214.3(JAG1):c.2766C>A (p.Asp922Glu)	JAG1 (D922E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2984178	NM_000214.3(JAG1):c.2088G>A (p.Gly696=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2978539	NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys)	JAG1 (E857K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2972910	NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)	JAG1 (C454*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2972241	NM_000214.3(JAG1):c.2709G>A (p.Leu903=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2967783	NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)	JAG1 (G47R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2963986	NM_000214.3(JAG1):c.887-17C>T	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2961316	NM_000214.3(JAG1):c.1290C>T (p.Leu430=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2960446	NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)	JAG1 (D116Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GBenign
Select item 2960272	NM_000214.3(JAG1):c.135G>T (p.Val45=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2956563	NM_000214.3(JAG1):c.184G>C (p.Gly62Arg)	JAG1 (G62R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2956125	NM_000214.3(JAG1):c.1177G>C (p.Val393Leu)	JAG1 (V393L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2954580	NM_000214.3(JAG1):c.650A>G (p.Asn217Ser)	JAG1 (N217S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2913071	NM_000214.3(JAG1):c.1887T>C (p.Asn629=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2911190	NM_000214.3(JAG1):c.1349-18G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2910460	NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu)	JAG1 (P675L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance

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