ClinVar for PubMed (Select 22135276) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3014150	NM_032119.4(ADGRV1):c.582del (p.Asp195fs)	ADGRV1 (D195fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3012678	NM_032119.4(ADGRV1):c.12226_12227delinsGTAGATGAGAGTAGATG (p.Ile4076delinsValAspGluSerArgTer)	ADGRV1	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 3008485	NM_032119.4(ADGRV1):c.3908dup (p.Leu1303fs)	ADGRV1 (L1303fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3005708	NM_032119.4(ADGRV1):c.1576C>T (p.Gln526Ter)	ADGRV1 (Q526*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3004368	NM_032119.4(ADGRV1):c.2437C>T (p.Arg813Ter)	ADGRV1 (R813*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3003864	NM_032119.4(ADGRV1):c.6815G>A (p.Trp2272Ter)	ADGRV1 (W2272*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3002657	NM_032119.4(ADGRV1):c.3855G>A (p.Trp1285Ter)	ADGRV1 (W1285*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2994209	NM_032119.4(ADGRV1):c.11757+2T>C	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2993346	NM_032119.4(ADGRV1):c.15602del (p.Val5201fs)	ADGRV1 (V5201fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2990667	NM_032119.4(ADGRV1):c.23-1G>A	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2982248	NM_032119.4(ADGRV1):c.7839_7840del (p.Gly2615fs)	ADGRV1 (G2615fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2981190	NM_032119.4(ADGRV1):c.9749-1G>T	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2969894	NM_032119.4(ADGRV1):c.4089del (p.Asn1364fs)	ADGRV1 (N1364fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2961960	NM_032119.4(ADGRV1):c.8155+1G>T	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2956669	NM_032119.4(ADGRV1):c.12120+1_12120+2del	ADGRV1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2877093	NM_032119.4(ADGRV1):c.9862del (p.Ser3288fs)	ADGRV1 (S3288fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2876128	NM_032119.4(ADGRV1):c.14973-1G>A	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2875709	NM_032119.4(ADGRV1):c.8221A>T (p.Lys2741Ter)	ADGRV1 (K2741*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2867641	NM_032119.4(ADGRV1):c.4571C>G (p.Ser1524Ter)	ADGRV1 (S1524*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2866827	NM_032119.4(ADGRV1):c.8800_8801del (p.Ser2934fs)	ADGRV1 (S2934fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2866627	NM_032119.4(ADGRV1):c.10603G>T (p.Glu3535Ter)	ADGRV1 (E3535*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2865842	NM_032119.4(ADGRV1):c.3266del (p.Tyr1089fs)	ADGRV1 (Y1089fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2863978	NM_032119.4(ADGRV1):c.6861del (p.Val2288fs)	ADGRV1 (V2288fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2862631	NM_032119.4(ADGRV1):c.14845del (p.Ser4949fs)	ADGRV1 (S4949fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2862506	NM_032119.4(ADGRV1):c.2983_2984del (p.Leu995fs)	ADGRV1 (L995fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2860592	NM_032119.4(ADGRV1):c.8020_8023del (p.Ser2674fs)	ADGRV1 (S2674fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2859323	NM_032119.4(ADGRV1):c.15968del (p.Glu5323fs)	ADGRV1 (E5323fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2854992	NM_032119.4(ADGRV1):c.10595G>A (p.Trp3532Ter)	ADGRV1 (W3532*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2853983	NM_032119.4(ADGRV1):c.17405_17408del (p.Ser5802fs)	ADGRV1 (S5802fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2852958	NM_032119.4(ADGRV1):c.12542del (p.Pro4181fs)	ADGRV1 (P4181fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2851590	NM_032119.4(ADGRV1):c.8155+2_8155+3del	ADGRV1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2849630	NM_032119.4(ADGRV1):c.17950C>T (p.Gln5984Ter)	ADGRV1 (Q5984*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2844421	NM_032119.4(ADGRV1):c.14534del (p.Gly4845fs)	ADGRV1 (G4845fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2843409	NM_032119.4(ADGRV1):c.3102C>A (p.Cys1034Ter)	ADGRV1 (C1034*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2841725	NM_032119.4(ADGRV1):c.18629del (p.Pro6210fs)	ADGRV1 (P6210fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2840447	NM_032119.4(ADGRV1):c.281_282del (p.Arg94fs)	ADGRV1 (R94fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2840362	NM_032119.4(ADGRV1):c.14249_14250del (p.Thr4750fs)	ADGRV1 (T4750fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2839294	NM_032119.4(ADGRV1):c.10772C>G (p.Ser3591Ter)	ADGRV1 (S3591*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2839185	NM_032119.4(ADGRV1):c.6711dup (p.Gln2238fs)	ADGRV1 (Q2238fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2838438	NM_032119.4(ADGRV1):c.11683G>T (p.Gly3895Ter)	ADGRV1 (G3895*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2837274	NM_032119.4(ADGRV1):c.2553+1G>A	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2836341	NM_032119.4(ADGRV1):c.16443del (p.Arg5482fs)	ADGRV1 (R5482fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2836299	NM_032119.4(ADGRV1):c.2966del (p.Asn989fs)	ADGRV1 (N989fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2836243	NM_032119.4(ADGRV1):c.17838dup (p.Ala5947fs)	ADGRV1 (A5947fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2836202	NM_032119.4(ADGRV1):c.4403_4418del (p.Ala1468fs)	ADGRV1 (A1468fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2832751	NM_032119.4(ADGRV1):c.16354del (p.Leu5452fs)	ADGRV1 (L5452fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2832405	NM_032119.4(ADGRV1):c.5983C>T (p.Gln1995Ter)	ADGRV1 (Q1995*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2830756	NM_032119.4(ADGRV1):c.16611+1G>A	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2829545	NM_032119.4(ADGRV1):c.11518G>T (p.Glu3840Ter)	ADGRV1 (E3840*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2828397	NM_032119.4(ADGRV1):c.2409dup (p.Ser804fs)	ADGRV1 (S804fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2825667	NM_032119.4(ADGRV1):c.6908T>A (p.Leu2303Ter)	ADGRV1 (L2303*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2825473	NM_032119.4(ADGRV1):c.3954dup (p.Arg1319fs)	ADGRV1 (R1319fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2824673	NM_032119.4(ADGRV1):c.13549dup (p.Ile4517fs)	ADGRV1 (I4517fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2824666	NM_032119.4(ADGRV1):c.4338del (p.Arg1447fs)	ADGRV1 (R1447fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2824116	NM_032119.4(ADGRV1):c.12012dup (p.Ile4006fs)	ADGRV1 (I4006fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2821877	NM_032119.4(ADGRV1):c.15889C>T (p.Gln5297Ter)	ADGRV1 (Q5297*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2821617	NM_032119.4(ADGRV1):c.10777G>T (p.Glu3593Ter)	ADGRV1 (E3593*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2821118	NM_032119.4(ADGRV1):c.6822_6825dup (p.Ile2276fs)	ADGRV1 (I2276fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2818627	NM_032119.4(ADGRV1):c.461C>A (p.Ser154Ter)	ADGRV1 (S154*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2816621	NM_032119.4(ADGRV1):c.17622dup (p.Val5875fs)	ADGRV1 (V5875fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2816129	NM_032119.4(ADGRV1):c.9212del (p.Asp3071fs)	ADGRV1 (D3071fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2813448	NM_032119.4(ADGRV1):c.6248T>G (p.Leu2083Ter)	ADGRV1 (L2083*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2811463	NM_032119.4(ADGRV1):c.7839del (p.Gly2615fs)	ADGRV1 (G2615fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2808686	NM_032119.4(ADGRV1):c.16395dup (p.Val5466fs)	ADGRV1 (V5466fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2807075	NM_032119.4(ADGRV1):c.8755dup (p.Tyr2919fs)	ADGRV1 (Y2919fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2806064	NM_032119.4(ADGRV1):c.16655del (p.Pro5552fs)	ADGRV1 (P5552fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2802035	NM_032119.4(ADGRV1):c.16111del (p.Ser5371fs)	ADGRV1 (S5371fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2797550	NM_032119.4(ADGRV1):c.7819G>T (p.Glu2607Ter)	ADGRV1 (E2607*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2796494	NM_032119.4(ADGRV1):c.3908T>A (p.Leu1303Ter)	ADGRV1 (L1303*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2796478	NM_032119.4(ADGRV1):c.11494del (p.Glu3832fs)	ADGRV1 (E3832fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2793222	NM_032119.4(ADGRV1):c.17988G>A (p.Trp5996Ter)	ADGRV1 (W5996*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2791894	NM_000260.4(MYO7A):c.6558+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2791289	NM_032119.4(ADGRV1):c.8355C>A (p.Tyr2785Ter)	ADGRV1 (Y2785*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2788207	NM_032119.4(ADGRV1):c.17072dup (p.Tyr5692fs)	ADGRV1 (Y5692fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2786006	NM_032119.4(ADGRV1):c.8892G>A (p.Trp2964Ter)	ADGRV1 (W2964*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2780061	NM_032119.4(ADGRV1):c.10084C>T (p.Gln3362Ter)	ADGRV1 (Q3362*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2771292	NM_032119.4(ADGRV1):c.15583_15596del (p.Leu5195fs)	ADGRV1 (L5195fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2770506	NM_032119.4(ADGRV1):c.9316dup (p.Glu3106fs)	ADGRV1 (E3106fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2770436	NM_032119.4(ADGRV1):c.4269_4270del (p.Trp1424fs)	ADGRV1 (W1424fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2770427	NM_032119.4(ADGRV1):c.2922del (p.Phe974fs)	ADGRV1 (F974fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2770153	NM_032119.4(ADGRV1):c.11126dup (p.Leu3709fs)	ADGRV1 (L3709fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2769899	NM_032119.4(ADGRV1):c.14517+1G>T	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2768283	NM_032119.4(ADGRV1):c.8515G>T (p.Glu2839Ter)	ADGRV1 (E2839*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2765288	NM_032119.4(ADGRV1):c.12691G>T (p.Glu4231Ter)	ADGRV1 (E4231*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2765093	NM_032119.4(ADGRV1):c.10244del (p.Lys3415fs)	ADGRV1 (K3415fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2764849	NM_032119.4(ADGRV1):c.3694_3697del (p.Val1232fs)	ADGRV1 (V1232fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2763810	NM_032119.4(ADGRV1):c.18625-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2762288	NM_032119.4(ADGRV1):c.13195_13208del (p.Ile4399fs)	ADGRV1 (I4399fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2762081	NM_032119.4(ADGRV1):c.8564dup (p.Gly2856fs)	ADGRV1 (G2856fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2761139	NM_032119.4(ADGRV1):c.2004del (p.Phe668fs)	ADGRV1 (F668fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2760275	NM_032119.4(ADGRV1):c.6707-1G>T	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2760123	NM_032119.4(ADGRV1):c.10549+1G>A	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2758743	NM_032119.4(ADGRV1):c.13433+2T>C	ADGRV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2755862	NM_032119.4(ADGRV1):c.1502dup (p.Ala502fs)	ADGRV1 (A502fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2754799	NM_032119.4(ADGRV1):c.17763C>A (p.Cys5921Ter)	ADGRV1 (C5921*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2752144	NM_032119.4(ADGRV1):c.10345_10366del (p.Pro3449fs)	ADGRV1 (P3449fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2751928	NM_032119.4(ADGRV1):c.47del (p.Val16fs)	ADGRV1 (V16fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2751726	NM_032119.4(ADGRV1):c.8182A>T (p.Arg2728Ter)	ADGRV1 (R2728*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2749016	NM_032119.4(ADGRV1):c.10927_10928del (p.Thr3643fs)	ADGRV1 (T3643fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2748246	NM_032119.4(ADGRV1):c.11330_11331insA (p.Trp3779fs)	ADGRV1 (W3779fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic

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