ClinVar for MedGen (Select 96586) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 556

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255002	NM_052989.3(IFT122):c.1015G>A (p.Gly339Ser)	IFT122 (G130S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3255001	NM_052989.3(IFT122):c.920T>C (p.Phe307Ser)	IFT122 (F157S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3246869	NC_000003.11:g.(?_129168694)_(129236457_?)dup	IFT122	Duplication	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3066250	NM_052989.3(IFT122):c.932G>A (p.Gly311Glu)	IFT122 (G102E +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3022532	NM_052989.3(IFT122):c.304A>C (p.Asn102His)	IFT122 (N102H +1 more)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3021815	NM_052989.3(IFT122):c.2652G>T (p.Ala884=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3007010	NM_052989.3(IFT122):c.189G>A (p.Lys63=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3005888	NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)	IFT122 (R67C)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3004437	NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)	IFT122 (F519L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2998425	NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)	IFT122 (E640G +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 2986268	NM_052989.3(IFT122):c.2452C>T (p.Leu818=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2982729	NM_052989.3(IFT122):c.72A>G (p.Gly24=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2981471	NM_052989.3(IFT122):c.1393C>A (p.Arg465=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2981043	NM_052989.3(IFT122):c.41+16G>A	IFT122, LOC129937552	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2978841	NM_052989.3(IFT122):c.3240C>T (p.Pro1080=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2965096	NM_052989.3(IFT122):c.3472-19C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2957016	NM_052989.3(IFT122):c.788T>C (p.Val263Ala)	IFT122 (V113A +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2918957	NM_052989.3(IFT122):c.3318A>G (p.Glu1106=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2918093	NM_052989.3(IFT122):c.1950C>G (p.Ala650=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2916552	NM_052989.3(IFT122):c.916_917del (p.Leu306fs)	IFT122 (L156fs +6 more)	Microsatellite (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2913590	NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)	IFT122 (Q172* +6 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2913104	NM_052989.3(IFT122):c.180A>G (p.Ala60=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2913007	NM_052989.3(IFT122):c.1758C>T (p.His586=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2911390	NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2908415	NM_052989.3(IFT122):c.273-212C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2907886	NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2901916	NM_052989.3(IFT122):c.3384A>T (p.Ala1128=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2897114	NM_052989.3(IFT122):c.3392-4C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2896717	NM_052989.3(IFT122):c.1572C>G (p.Ala524=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2895195	NM_052989.3(IFT122):c.2496T>C (p.Gly832=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2893427	NM_052989.3(IFT122):c.2454G>A (p.Leu818=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2889796	NM_052989.3(IFT122):c.2559G>A (p.Leu853=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2889488	NM_052989.3(IFT122):c.1852-14A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2885173	NM_052989.3(IFT122):c.567A>G (p.Arg189=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2884429	NM_052989.3(IFT122):c.1488+19C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2879426	NM_052989.3(IFT122):c.1963del (p.Glu655fs)	IFT122 (E647fs +6 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2877672	NM_052989.3(IFT122):c.1852-8T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2876789	NM_052989.3(IFT122):c.1128C>T (p.His376=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2870014	NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)	IFT122 (G693V +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2867220	NM_052989.3(IFT122):c.273-323C>T	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2864088	NM_052989.3(IFT122):c.3378G>A (p.Glu1126=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2858612	NM_052989.3(IFT122):c.816+10C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2858362	NM_052989.3(IFT122):c.417-6A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2857955	NM_052989.3(IFT122):c.2650+20A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2852129	NM_052989.3(IFT122):c.411C>T (p.Cys137=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2850545	NM_052989.3(IFT122):c.272+14G>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2847376	NM_052989.3(IFT122):c.563+18C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2831350	NM_052989.3(IFT122):c.1992+10T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2818768	NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)	IFT122 (Q178* +6 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2815141	NM_052989.3(IFT122):c.2988-5G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2813519	NM_052989.3(IFT122):c.2778C>T (p.Leu926=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2813055	NM_052989.3(IFT122):c.3637-11T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2800797	NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)	IFT122 (W1082* +13 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2795493	NM_052989.3(IFT122):c.1008+9A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2787283	NM_052989.3(IFT122):c.1852-11A>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2779781	NM_052989.3(IFT122):c.1461C>A (p.Gly487=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2772523	NM_052989.3(IFT122):c.2548-19C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2771574	NM_052989.3(IFT122):c.109-7T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2770135	NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)	IFT122 (D654G +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2770134	NM_052989.3(IFT122):c.443_449dup (p.Met151fs)	IFT122 (M151fs +2 more)	Duplication (frameshift variant +1 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2769095	NM_052989.3(IFT122):c.2163C>T (p.Leu721=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2761677	NM_052989.3(IFT122):c.1488+16C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2758870	NM_052989.3(IFT122):c.2887-15T>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2757396	NM_052989.3(IFT122):c.273-257C>A	IFT122 (C130*)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2751035	NM_052989.3(IFT122):c.2232C>T (p.Pro744=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2749425	NM_052989.3(IFT122):c.445C>T (p.Leu149=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2742487	NM_052989.3(IFT122):c.3265+8C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2742266	NM_052989.3(IFT122):c.1410G>A (p.Glu470=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2741953	NM_052989.3(IFT122):c.507C>T (p.Ile169=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2739839	NM_052989.3(IFT122):c.186G>A (p.Ala62=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2739215	NM_052989.3(IFT122):c.3154-12G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2734273	NM_052989.3(IFT122):c.2792-14G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2733151	NM_052989.3(IFT122):c.3392-6C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2731515	NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)	IFT122	Single nucleotide variant (synonymous variant)	IFT122-related disorder +1 more	GLikely benign
Select item 2729984	NM_052989.3(IFT122):c.2548-19C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2727936	NM_052989.3(IFT122):c.903C>T (p.Asp301=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2726827	NM_052989.3(IFT122):c.2301C>T (p.Ala767=)	IFT122	Single nucleotide variant (synonymous variant)	IFT122-related disorder +1 more	GLikely benign
Select item 2721675	NM_052989.3(IFT122):c.2127C>T (p.Ala709=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2720991	NM_052989.3(IFT122):c.3255C>T (p.Ala1085=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2718528	NM_052989.3(IFT122):c.690A>G (p.Ala230=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2714821	NM_052989.3(IFT122):c.3471+13C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2714335	NM_052989.3(IFT122):c.39C>T (p.His13=)	IFT122, LOC129937552	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2712555	NM_052989.3(IFT122):c.194-4T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2711643	NM_052989.3(IFT122):c.1704C>G (p.Leu568=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2708022	NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2707350	NM_052989.3(IFT122):c.2886+19C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2693250	NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)	IFT122 (T894fs +9 more)	Microsatellite (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2585453	NM_052989.3(IFT122):c.1862T>G (p.Met621Arg)	IFT122 (M471R +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2502831	NM_052989.3(IFT122):c.1288A>G (p.Ile430Val)	IFT122 (I221V +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2432805	NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)	IFT122 (G32R)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2432804	NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)	IFT122 (K66T)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2427158	NC_000003.11:g.(?_129150344)_(129159234_?)dup	IFT122, MBD4	Duplication	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2425321	NM_052989.3(IFT122):c.108+15T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2421414	NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)	IFT122 (D240N +2 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2315377	NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)	IFT122 (R1016C +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 2203430	NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)	IFT122 (Y876fs +6 more)	Indel (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2202491	NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)	IFT122 (L1014V +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2202370	NM_052989.3(IFT122):c.1848G>A (p.Pro616=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 2200140	NM_052989.3(IFT122):c.1836C>T (p.Ala612=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GBenign
Select item 2200025	NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)	IFT122 (R1044Q +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance

<< First< Prev

Page of 6