ClinVar for Gene (Select 9289) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 962

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086028	NM_201525.4(ADGRG1):c.944T>C (p.Ile315Thr)	ADGRG1 (I140T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086005	NM_201525.4(ADGRG1):c.602C>T (p.Ser201Leu)	ADGRG1 (S149L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085970	NM_201525.4(ADGRG1):c.1663A>G (p.Met555Val)	ADGRG1 (M386V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085943	NM_201525.4(ADGRG1):c.1151A>G (p.Tyr384Cys)	ADGRG1 (Y209C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068288	NM_201525.4(ADGRG1):c.352_452del (p.Ser118fs)	ADGRG1 (S118fs +2 more)	Deletion (frameshift variant +2 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3053943	NM_201525.4(ADGRG1):c.696G>C (p.Arg232=)	ADGRG1	Single nucleotide variant (synonymous variant)	ADGRG1-related disorder	GLikely benign
Select item 3021847	NM_201525.4(ADGRG1):c.65-18C>T	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3021034	NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter)	ADGRG1 (S5*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3020939	NM_201525.4(ADGRG1):c.1064-18G>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020823	NM_201525.4(ADGRG1):c.769-17T>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019748	NM_201525.4(ADGRG1):c.1623G>A (p.Leu541=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015936	NM_201525.4(ADGRG1):c.1064-19C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014721	NM_201525.4(ADGRG1):c.488-2A>G	ADGRG1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3014464	NM_201525.4(ADGRG1):c.1556-16G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012129	NM_201525.4(ADGRG1):c.1168-20C>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011784	NM_201525.4(ADGRG1):c.768+16G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010297	NM_201525.4(ADGRG1):c.1710C>A (p.Gly570=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006235	NM_201525.4(ADGRG1):c.1287-36C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005873	NM_201525.4(ADGRG1):c.1086C>T (p.Ser362=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003098	NM_201525.4(ADGRG1):c.488-11C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999886	NM_201525.4(ADGRG1):c.769-11G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999325	NM_201525.4(ADGRG1):c.621-12C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999186	NM_201525.4(ADGRG1):c.769-1G>A	ADGRG1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2994831	NM_201525.4(ADGRG1):c.1934-12C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994454	NM_201525.4(ADGRG1):c.1933+19C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990289	NM_201525.4(ADGRG1):c.24G>A (p.Gln8=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2989100	NM_201525.4(ADGRG1):c.1168-5G>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986621	NM_201525.4(ADGRG1):c.1827C>T (p.Leu609=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985280	NM_201525.4(ADGRG1):c.1556-14A>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984189	NM_201525.4(ADGRG1):c.64+11C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983670	NM_201525.4(ADGRG1):c.1933+1G>T	ADGRG1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2981132	NM_201525.4(ADGRG1):c.768+20A>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979184	NM_201525.4(ADGRG1):c.900+16C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978860	NM_201525.4(ADGRG1):c.1168-17del	ADGRG1	Deletion (intron variant)	not provided	GLikely benign
Select item 2977701	NM_201525.4(ADGRG1):c.1063+18T>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977572	NM_201525.4(ADGRG1):c.264C>T (p.Tyr88=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2975518	NM_201525.4(ADGRG1):c.900+17C>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972051	NM_201525.4(ADGRG1):c.456del (p.Ser153fs)	ADGRG1 (S101fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2971434	NM_201525.4(ADGRG1):c.903C>T (p.Asp301=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971306	NM_201525.4(ADGRG1):c.901-20C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968718	NM_201525.4(ADGRG1):c.620+20C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965218	NM_201525.4(ADGRG1):c.990G>C (p.Val330=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962815	NM_201525.4(ADGRG1):c.532_553del (p.Glu178fs)	ADGRG1 (E126fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2962686	NM_201525.4(ADGRG1):c.396C>G (p.Gly132=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2961883	NM_201525.4(ADGRG1):c.1017+20C>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956148	NM_201525.4(ADGRG1):c.769-20C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954617	NM_201525.4(ADGRG1):c.867C>T (p.Leu289=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919979	NM_201525.4(ADGRG1):c.1064-11C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917335	NM_201525.4(ADGRG1):c.1345C>T (p.Leu449=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916762	NM_201525.4(ADGRG1):c.1934-20C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914602	NM_201525.4(ADGRG1):c.1286+17G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913264	NM_201525.4(ADGRG1):c.531C>T (p.Cys177=)	ADGRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912730	NM_201525.4(ADGRG1):c.768+12G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911148	NM_201525.4(ADGRG1):c.1555+14C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911008	NM_201525.4(ADGRG1):c.1287-29T>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910007	NM_201525.4(ADGRG1):c.1555+15G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908754	NM_201525.4(ADGRG1):c.207C>T (p.Ala69=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2903821	NM_201525.4(ADGRG1):c.519G>C (p.Ser173=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2899766	NM_201525.4(ADGRG1):c.1287-38T>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898692	NM_201525.4(ADGRG1):c.64+16G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898484	NM_201525.4(ADGRG1):c.1167+16C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896408	NM_201525.4(ADGRG1):c.769-12G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887605	NM_201525.4(ADGRG1):c.769-19C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887083	NM_201525.4(ADGRG1):c.1555+20G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882198	NM_201525.4(ADGRG1):c.1934-20C>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880290	NM_201525.4(ADGRG1):c.64+9T>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876580	NM_201525.4(ADGRG1):c.2037G>C (p.Ser679=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875526	NM_201525.4(ADGRG1):c.1933+13C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874619	NM_201525.4(ADGRG1):c.637_655del (p.Leu212_Glu213insTer)	ADGRG1	Deletion (nonsense)	not provided	GPathogenic
Select item 2874076	NM_201525.4(ADGRG1):c.1017+9G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871141	NM_201525.4(ADGRG1):c.2058C>T (p.Arg686=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870458	NM_201525.4(ADGRG1):c.1168-14T>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869393	NM_201525.4(ADGRG1):c.900+8G>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868022	NM_201525.4(ADGRG1):c.1805_1806del (p.His602fs)	ADGRG1 (H602fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2866851	NM_201525.4(ADGRG1):c.198A>G (p.Thr66=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2865370	NM_201525.4(ADGRG1):c.1933+20C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861662	NM_201525.4(ADGRG1):c.96del (p.Arg33fs)	ADGRG1 (R38fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2860194	NM_201525.4(ADGRG1):c.588C>T (p.Ala196=)	ADGRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859765	NM_201525.4(ADGRG1):c.1792C>T (p.Gln598Ter)	ADGRG1 (Q434* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2859373	NM_201525.4(ADGRG1):c.112C>G (p.Arg38Gly)	ADGRG1 (R38G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2857868	NM_201525.4(ADGRG1):c.1920C>T (p.Ile640=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854132	NM_201525.4(ADGRG1):c.1167+20C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852313	NM_201525.4(ADGRG1):c.769-19C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852259	NM_201525.4(ADGRG1):c.1272C>G (p.Ala424=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852048	NM_201525.4(ADGRG1):c.195C>G (p.Leu65=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2850643	NM_201525.4(ADGRG1):c.1347G>A (p.Leu449=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849370	NM_201525.4(ADGRG1):c.1556-20A>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846594	NM_201525.4(ADGRG1):c.1098_1099del (p.Cys366_Glu367delinsTer)	ADGRG1	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2846069	NM_201525.4(ADGRG1):c.768+8G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843667	NM_201525.4(ADGRG1):c.1575G>C (p.Val525=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842104	NM_201525.4(ADGRG1):c.936C>T (p.Val312=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841768	NM_201525.4(ADGRG1):c.51C>G (p.Leu17=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2841738	NM_201525.4(ADGRG1):c.1064-15C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839945	NM_201525.4(ADGRG1):c.1327_1330del (p.Leu443fs)	ADGRG1 (L391fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2839938	NM_201525.4(ADGRG1):c.1167+7G>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839830	NM_201525.4(ADGRG1):c.342C>T (p.Asp114=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2838901	NM_201525.4(ADGRG1):c.1168-8_1174del	ADGRG1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2836138	NM_201525.4(ADGRG1):c.1168-15G>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834984	NM_201525.4(ADGRG1):c.235C>A (p.Arg79=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

<< First< Prev

Page of 10