ClinVar for PubMed (Select 19876929) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3760326	NM_147127.5(EVC2):c.2938G>T (p.Glu980Ter)	EVC2 (E900* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 3757648	NM_147127.5(EVC2):c.3575G>A (p.Trp1192Ter)	EVC2 (W1112* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 3754549	NM_147127.5(EVC2):c.3361-255_3481del	EVC2	Deletion (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 3246633	NC_000004.11:g.(?_5612949)_(5633604_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246632	NC_000004.11:g.(?_5630338)_(5635928_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246627	NC_000004.11:g.(?_5577947)_(5586597_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246626	NC_000004.11:g.(?_5617129)_(5627655_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246625	NC_000004.11:g.(?_5620185)_(5642585_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246624	NC_000004.11:g.(?_5699300)_(5758109_?)del	EVC, EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246621	NC_000004.11:g.(?_5624244)_(5624738_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246620	NC_000004.11:g.(?_5709993)_(5710240_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2954255	NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)	EVC2 (N361fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2954123	NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)	EVC2 (A530fs +1 more)	Microsatellite (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2954098	NM_147127.5(EVC2):c.1146-2A>T	EVC2, LOC126806961	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2953755	NM_147127.5(EVC2):c.3058-1G>T	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2953638	NM_147127.5(EVC2):c.450+1G>C	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2953617	NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)	EVC2 (Q184* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2953093	NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)	EVC2 (T567fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2952472	NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)	EVC2 (R796fs +1 more)	Microsatellite (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2952345	NM_147127.5(EVC2):c.1332del (p.Glu445fs)	EVC2, LOC126806961 (E365fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951733	NM_147127.5(EVC2):c.1163del (p.Leu388fs)	EVC2, LOC126806961 (L388fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951605	NM_147127.5(EVC2):c.2332del (p.Glu778fs)	EVC2 (E698fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951502	NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)	EVC2 (Q603fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951427	NM_147127.5(EVC2):c.1706del (p.Ile569fs)	EVC2 (I489fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2951168	NM_147127.5(EVC2):c.314del (p.Lys105fs)	EVC2 (K25fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2950762	NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)	EVC2 (Q601* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2950256	NM_147127.5(EVC2):c.2750del (p.Lys917fs)	EVC2 (K837fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2950070	NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)	EVC2 (R874fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2949893	NM_147127.5(EVC2):c.2829+2T>G	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2949448	NM_147127.5(EVC2):c.520-2A>T	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2948582	NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)	EVC2 (Q298* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2948331	NM_147127.5(EVC2):c.1005+1G>A	EVC2, LOC126806962	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2948277	NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)	EVC2 (E847fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2946170	NM_147127.5(EVC2):c.420del (p.Phe140fs)	EVC2 (F140fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2945811	NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)	EVC2 (W106* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2945421	NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)	EVC2	Deletion (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2944953	NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)	EVC2 (G70fs)	Duplication (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2944613	NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)	EVC2 (H717fs +1 more)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2944447	NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)	EVC2	Indel (nonsense +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2944247	NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)	EVC2 (Q798* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2944170	NM_147127.5(EVC2):c.2057del (p.Gln686fs)	EVC2 (Q686fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2944108	NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)	EVC2 (R596fs +1 more)	Insertion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2943801	NM_147127.5(EVC2):c.2707-1G>A	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2943664	NM_147127.5(EVC2):c.2829+2T>C	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2943012	NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)	EVC2 (M876fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2942942	NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)	EVC2 (E714* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2942771	NM_147127.5(EVC2):c.1470+2T>C	EVC2, LOC126806961	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2942242	NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)	EVC2 (Q427* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2941878	NM_147127.5(EVC2):c.817-1G>T	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2939504	NM_147127.5(EVC2):c.2501+1G>T	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2939344	NM_147127.5(EVC2):c.3058-1G>C	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2937176	NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)	EVC2 (L1005fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2936926	NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)	EVC2 (Q885fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2935388	NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)	EVC2 (E765* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2931070	NM_147127.5(EVC2):c.449del (p.Leu150fs)	EVC2 (L150fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2930793	NM_147127.5(EVC2):c.3272+1G>T	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2929610	NM_147127.5(EVC2):c.80dup (p.Arg28fs)	EVC2 (R28fs)	Duplication (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2928537	NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)	EVC2 (G881* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2927184	NM_147127.5(EVC2):c.30dup (p.Thr11fs)	EVC2 (T11fs)	Duplication (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2926901	NM_147127.5(EVC2):c.86del (p.Gly29fs)	EVC2 (G29fs)	Deletion (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2925374	NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)	EVC2 (E820* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2922401	NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)	EVC2 (S839* +1 more)	Indel (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2922067	NM_147127.5(EVC2):c.2281del (p.Gln761fs)	EVC2 (Q761fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2427348	NC_000004.11:g.(?_5630335)_(5635926_?)del	EVC2	Deletion	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2427345	NC_000004.11:g.(?_5617139)_(5812774_?)del	EVC, EVC2	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 2427344	NC_000004.11:g.(?_5576402)_(5576509_?)del	EVC2	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 2422082	NM_147127.5(EVC2):c.1145+2del	EVC2	Deletion (splice donor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 2416026	NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)	EVC2 (L902fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2203506	NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)	EVC2 (E789* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2135791	NM_147127.5(EVC2):c.2892del (p.Gln965fs)	EVC2 (Q965fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2135571	NM_147127.5(EVC2):c.3558-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 2121849	NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)	EVC2 (Q235* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2107213	NM_147127.5(EVC2):c.519+1G>A	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2106204	NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)	EVC2 (Q885* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2076256	NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)	EVC2 (Y517* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2074375	NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)	EVC2 (Q804* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2071080	NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)	EVC2, LOC126806961 (Y447* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2070438	NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)	EVC2 (E122fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2066588	NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)	EVC2 (L948* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2042845	NM_147127.5(EVC2):c.519+2T>G	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2033112	NM_147127.5(EVC2):c.450+2T>G	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2032212	NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)	EVC2 (P476fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2029356	NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)	EVC2 (T67* +1 more)	Microsatellite (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2027876	NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)	EVC2, LOC126806961 (A407fs +1 more)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2026726	NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)	EVC2 (Q606* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2017784	NM_147127.5(EVC2):c.369_370del (p.Trp123fs)	EVC2 (W123fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2002981	NM_147127.5(EVC2):c.670dup (p.Glu224fs)	EVC2 (E144fs +1 more)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 1998099	NM_147127.5(EVC2):c.2150_2156del (p.His717fs)	EVC2 (H637fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic
Select item 1995424	NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)	EVC2 (E72fs)	Duplication (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 1958337	NM_147127.5(EVC2):c.2161del (p.Leu721fs)	EVC2 (L641fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1939729	NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)	EVC2 (Q1072fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1939326	NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)	EVC2 (L1004* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1934227	NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)	EVC2 (Q690* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1920129	NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)	EVC2 (P71fs)	Microsatellite (frameshift variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1913582	NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)	EVC2 (Q894* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1726287	NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)	EVC2 (R872fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1723633	NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)	EVC2 (S1046fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1507382	NM_147127.5(EVC2):c.3273-2A>C	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 1498862	NM_147127.5(EVC2):c.2829+1G>A	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 1496999	NM_147127.5(EVC2):c.816+1G>T	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic

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