ClinVar for MedGen (Select 365434) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Alagille syndrome due to a JAG1 point mutation	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
Select item 2908060	NM_000214.3(JAG1):c.3492C>T (p.His1164=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2907193	NM_000214.3(JAG1):c.3228C>T (p.Val1076=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2905730	NM_000214.3(JAG1):c.440-19T>G	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2904635	NM_000214.3(JAG1):c.813C>T (p.Cys271=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2901359	NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)	JAG1 (S158L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2900136	NM_000214.3(JAG1):c.396T>C (p.Tyr132=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2898312	NM_000214.3(JAG1):c.2169G>A (p.Glu723=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2898020	NM_000214.3(JAG1):c.725A>G (p.His242Arg)	JAG1 (H242R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2897558	NM_000214.3(JAG1):c.694+14T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2895906	NM_000214.3(JAG1):c.29C>T (p.Ser10Phe)	JAG1 (S10F)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2895338	NM_000214.3(JAG1):c.1839C>T (p.Phe613=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2894765	NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)	JAG1 (P476L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2892622	NM_000214.3(JAG1):c.133G>A (p.Val45Met)	JAG1 (V45M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2890455	NM_000214.3(JAG1):c.3147T>G (p.Ile1049Met)	JAG1 (I1049M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2890080	NM_000214.3(JAG1):c.2682+8A>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2887391	NM_000214.3(JAG1):c.822C>T (p.Gly274=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2882992	NM_000214.3(JAG1):c.2433T>G (p.Gly811=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2880090	NM_000214.3(JAG1):c.406G>A (p.Val136Met)	JAG1 (V136M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2880000	NM_000214.3(JAG1):c.1569+1G>A	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2877013	NM_000214.3(JAG1):c.2344+6T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2875484	NM_000214.3(JAG1):c.3649A>C (p.Ile1217Leu)	JAG1 (I1217L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2874716	NM_000214.3(JAG1):c.1872A>G (p.Thr624=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2872175	NM_000214.3(JAG1):c.490A>G (p.Ser164Gly)	JAG1 (S164G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2872067	NM_000214.3(JAG1):c.2572+17T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2870348	NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)	JAG1 (W1196G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2868319	NM_000214.3(JAG1):c.2442G>A (p.Gly814=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2865746	NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly)	JAG1 (D684G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2864702	NM_000214.3(JAG1):c.4C>T (p.Arg2Cys)	JAG1 (R2C)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2864116	NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg)	JAG1 (C714R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2860239	NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter)	JAG1 (Y328*)	Insertion (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2859458	NM_000214.3(JAG1):c.755+18T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation	GLikely benign
Select item 2856271	NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)	JAG1 (C29*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2854544	NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr)	JAG1 (C633Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2853911	NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser)	JAG1 (Y132S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2853391	NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys)	JAG1 (N536K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2853049	NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)	JAG1 (Q182R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2852505	NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu)	JAG1 (S997L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2849949	NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)	JAG1 (Y479*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2848926	NM_000214.3(JAG1):c.217dup (p.Thr73fs)	JAG1 (T73fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2842346	NM_000214.3(JAG1):c.2919del (p.Thr975fs)	JAG1 (T975fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2841421	NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn)	JAG1 (D1024N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2840998	NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr)	JAG1 (P420T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2839550	NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn)	JAG1 (D453N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2838262	NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)	JAG1 (Y255C)	Inversion (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance

<< First< Prev

Page of 10