ClinVar for MedGen (Select 397792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246373	NC_000005.9:g.(?_178585704)_(178700085_?)dup	ADAMTS2	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 3246372	NC_000005.9:g.(?_178699892)_(178700085_?)dup	ADAMTS2	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 3246371	NC_000005.9:g.(?_178554940)_(178555139_?)del	ADAMTS2	Deletion	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic
Select item 3246370	NC_000005.9:g.(?_178566871)_(178567056_?)del	ADAMTS2	Deletion	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic
Select item 3068384	NM_014244.5(ADAMTS2):c.2959-1G>A	ADAMTS2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 3064821	NM_014244.5(ADAMTS2):c.137dup (p.Gly47fs)	ADAMTS2 (G47fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 3023624	NM_014244.5(ADAMTS2):c.1263G>A (p.Gln421=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3020271	NM_014244.5(ADAMTS2):c.685A>G (p.Thr229Ala)	ADAMTS2 (T229A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 3019763	NM_014244.5(ADAMTS2):c.2751-19C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3018528	NM_014244.5(ADAMTS2):c.1630-18T>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3018280	NM_014244.5(ADAMTS2):c.294C>T (p.Pro98=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3016557	NM_014244.5(ADAMTS2):c.699G>A (p.Leu233=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3015664	NM_014244.5(ADAMTS2):c.2334G>A (p.Glu778=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3013980	NM_014244.5(ADAMTS2):c.1976_1977delinsAG (p.Cys659Ter)	ADAMTS2 (C659*)	Indel (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic
Select item 3012346	NM_014244.5(ADAMTS2):c.999G>C (p.Gly333=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3012065	NM_014244.5(ADAMTS2):c.2295C>G (p.Val765=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3011025	NM_014244.5(ADAMTS2):c.1133-15C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3010722	NM_014244.5(ADAMTS2):c.1608G>T (p.Gly536=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3010628	NM_014244.5(ADAMTS2):c.892-7C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3009260	NM_014244.5(ADAMTS2):c.624G>A (p.Val208=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3007309	NM_014244.5(ADAMTS2):c.3414C>T (p.Thr1138=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3003789	NM_014244.5(ADAMTS2):c.360G>T (p.Leu120=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3003436	NM_014244.5(ADAMTS2):c.1917C>A (p.Ala639=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3002939	NM_014244.5(ADAMTS2):c.1382+19C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3001733	NM_014244.5(ADAMTS2):c.1497C>G (p.Gly499=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3000943	NM_014244.5(ADAMTS2):c.2290+18A>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 3000304	NM_014244.5(ADAMTS2):c.2086-7C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2997853	NM_014244.5(ADAMTS2):c.534+14T>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2997811	NM_014244.5(ADAMTS2):c.2901C>T (p.Arg967=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2997228	NM_014244.5(ADAMTS2):c.2086-10C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2994389	NM_014244.5(ADAMTS2):c.1974C>T (p.Tyr658=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2994099	NM_014244.5(ADAMTS2):c.3323C>T (p.Pro1108Leu)	ADAMTS2 (P1108L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 2992799	NM_014244.5(ADAMTS2):c.1617T>C (p.Cys539=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2990470	NM_014244.5(ADAMTS2):c.3005del (p.Cys1002fs)	ADAMTS2 (C1002fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic
Select item 2989504	NM_014244.5(ADAMTS2):c.139+14G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2988899	NM_014244.5(ADAMTS2):c.351C>T (p.Gly117=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2988568	NM_014244.5(ADAMTS2):c.2196A>G (p.Ser732=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2987355	NM_014244.5(ADAMTS2):c.2457+13A>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2986260	NM_014244.5(ADAMTS2):c.2209+8G>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2985967	NM_014244.5(ADAMTS2):c.12G>T (p.Pro4=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2985135	NM_014244.5(ADAMTS2):c.2291-9del	ADAMTS2	Deletion (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2984182	NM_014244.5(ADAMTS2):c.3088+16C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2983555	NM_014244.5(ADAMTS2):c.474C>T (p.Val158=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2983343	NM_014244.5(ADAMTS2):c.3178+20C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2983220	NM_014244.5(ADAMTS2):c.2958+18C>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2983032	NM_014244.5(ADAMTS2):c.1239-17T>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2979916	NM_014244.5(ADAMTS2):c.1952-20C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2979862	NM_014244.5(ADAMTS2):c.2086-15C>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2976022	NM_014244.5(ADAMTS2):c.891+17A>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2967315	NM_014244.5(ADAMTS2):c.3179-19T>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2966703	NM_014244.5(ADAMTS2):c.3066C>T (p.Thr1022=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2963950	NM_014244.5(ADAMTS2):c.3179-14C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2962632	NM_014244.5(ADAMTS2):c.75G>A (p.Pro25=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2962258	NM_014244.5(ADAMTS2):c.2290+19C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2961538	NM_014244.5(ADAMTS2):c.689-5T>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2959776	NM_014244.5(ADAMTS2):c.976-18C>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2957123	NM_014244.5(ADAMTS2):c.2745G>A (p.Gln915=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2955542	NM_014244.5(ADAMTS2):c.3102T>C (p.Asp1034=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2955258	NM_014244.5(ADAMTS2):c.1803G>C (p.Ser601=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2954874	NM_014244.5(ADAMTS2):c.417G>A (p.Trp139Ter)	ADAMTS2 (W139*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic
Select item 2954566	NM_014244.5(ADAMTS2):c.874C>T (p.Leu292=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2920139	NM_014244.5(ADAMTS2):c.976-14C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2920088	NM_014244.5(ADAMTS2):c.975+19G>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2919554	NM_014244.5(ADAMTS2):c.1047G>A (p.Gln349=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2918980	NM_014244.5(ADAMTS2):c.3363T>C (p.Pro1121=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2918778	NM_014244.5(ADAMTS2):c.1845C>T (p.Cys615=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2918298	NM_014244.5(ADAMTS2):c.1515+8T>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2917831	NM_014244.5(ADAMTS2):c.535-21_535-11del	ADAMTS2	Deletion (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2917611	NM_014244.5(ADAMTS2):c.140-9C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2917511	NM_014244.5(ADAMTS2):c.2907C>T (p.Ala969=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2917175	NM_014244.5(ADAMTS2):c.1383-11G>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2916634	NM_014244.5(ADAMTS2):c.1622C>T (p.Pro541Leu)	ADAMTS2 (P541L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 2916144	NM_014244.5(ADAMTS2):c.1515+17G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2916012	NM_014244.5(ADAMTS2):c.2618-17G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2915976	NM_014244.5(ADAMTS2):c.535-7C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2915918	NM_014244.5(ADAMTS2):c.1599C>A (p.Pro533=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2915579	NM_014244.5(ADAMTS2):c.2958+15G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2913885	NM_014244.5(ADAMTS2):c.1951+16A>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2913391	NM_014244.5(ADAMTS2):c.1626C>G (p.Gly542=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2912882	NM_014244.5(ADAMTS2):c.1365G>A (p.Glu455=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2912770	NM_014244.5(ADAMTS2):c.535-13C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2912095	NM_014244.5(ADAMTS2):c.140-18C>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2910543	NM_014244.5(ADAMTS2):c.2058C>T (p.Phe686=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2910200	NM_014244.5(ADAMTS2):c.891+14C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2910027	NM_014244.5(ADAMTS2):c.2739C>T (p.Cys913=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2909122	NM_014244.5(ADAMTS2):c.139+19dup	ADAMTS2	Duplication (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 2907810	NM_014244.5(ADAMTS2):c.3537A>G (p.Leu1179=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2906238	NM_014244.5(ADAMTS2):c.688+12G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2904653	NM_014244.5(ADAMTS2):c.1952-18del	ADAMTS2	Deletion (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 2904375	NM_014244.5(ADAMTS2):c.3179-1del	ADAMTS2	Deletion (splice acceptor variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 2903981	NM_014244.5(ADAMTS2):c.2790T>C (p.Cys930=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2903805	NM_014244.5(ADAMTS2):c.1133-19G>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2902365	NM_014244.5(ADAMTS2):c.33G>C (p.Leu11=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2901084	NM_014244.5(ADAMTS2):c.654C>T (p.Ser218=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2900425	NM_014244.5(ADAMTS2):c.1952-11T>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2897063	NM_014244.5(ADAMTS2):c.534+17C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2896553	NM_014244.5(ADAMTS2):c.1238+15G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2896006	NM_014244.5(ADAMTS2):c.99G>T (p.Pro33=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2895635	NM_014244.5(ADAMTS2):c.534+15C>G	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2894673	NM_014244.5(ADAMTS2):c.976-20T>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign

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