ClinVar for Gene (Select 50939) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360490	NM_016247.4(IMPG2):c.170C>T (p.Ser57Phe)	IMPG2 (S57F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351275	NM_016247.4(IMPG2):c.619G>A (p.Ala207Thr)	IMPG2 (A207T)	Single nucleotide variant (missense variant)	IMPG2-related disorder	GUncertain significance
Select item 3348536	NM_016247.4(IMPG2):c.828+10T>G	IMPG2	Single nucleotide variant (intron variant)	IMPG2-related disorder	GLikely benign
Select item 3285981	NM_016247.4(IMPG2):c.3109A>G (p.Arg1037Gly)	IMPG2 (R1037G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285980	NM_016247.4(IMPG2):c.3667T>C (p.Tyr1223His)	IMPG2 (Y1223H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3109585	NM_016247.4(IMPG2):c.412A>G (p.Met138Val)	IMPG2 (M138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109584	NM_016247.4(IMPG2):c.3286G>A (p.Val1096Met)	IMPG2 (V1096M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109583	NM_016247.4(IMPG2):c.197T>G (p.Leu66Arg)	IMPG2 (L66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109582	NM_016247.4(IMPG2):c.1964T>G (p.Met655Arg)	IMPG2 (M655R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109581	NM_016247.4(IMPG2):c.1945C>G (p.Leu649Val)	IMPG2 (L649V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109580	NM_016247.4(IMPG2):c.1577T>G (p.Leu526Arg)	IMPG2 (L526R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109579	NM_016247.4(IMPG2):c.1403C>T (p.Ser468Leu)	IMPG2 (S468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3027567	NM_016247.4(IMPG2):c.89_92del (p.Gln30fs)	IMPG2 (Q30fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027566	NM_016247.4(IMPG2):c.176C>G (p.Ala59Gly)	IMPG2 (A59G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027565	NM_016247.4(IMPG2):c.192G>A (p.Gln64=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3027564	NM_016247.4(IMPG2):c.198_201dup (p.Arg68fs)	IMPG2 (R68fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3027563	NM_016247.4(IMPG2):c.284A>T (p.Glu95Val)	IMPG2 (E95V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027562	NM_016247.4(IMPG2):c.324dup (p.Lys109Ter)	IMPG2 (K109*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3027561	NM_016247.4(IMPG2):c.332G>C (p.Arg111Pro)	IMPG2 (R111P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027560	NM_016247.4(IMPG2):c.871C>G (p.Arg291Gly)	IMPG2 (R291G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027559	NM_016247.4(IMPG2):c.1057A>G (p.Asn353Asp)	IMPG2 (N353D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027558	NM_016247.4(IMPG2):c.1167G>C (p.Leu389Phe)	IMPG2 (L389F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027557	NM_016247.4(IMPG2):c.1344dup (p.Leu449fs)	IMPG2 (L449fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3027556	NM_016247.4(IMPG2):c.1637C>T (p.Pro546Leu)	IMPG2 (P546L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027554	NM_016247.4(IMPG2):c.2517G>A (p.Ser839=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027553	NM_016247.4(IMPG2):c.3011A>G (p.Asp1004Gly)	IMPG2 (D1004G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027552	NM_016247.4(IMPG2):c.3070G>C (p.Glu1024Gln)	IMPG2 (E1024Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027551	NM_016247.4(IMPG2):c.3097G>T (p.Glu1033Ter)	IMPG2 (E1033*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3027549	NM_016247.4(IMPG2):c.3555T>C (p.Ser1185=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027548	NM_016247.4(IMPG2):c.3603_3604del (p.Gln1201fs)	IMPG2 (Q1201fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3024707	NM_016247.4(IMPG2):c.534-5del	IMPG2	Deletion (intron variant)	not provided	GLikely benign
Select item 3005900	NM_016247.4(IMPG2):c.930A>T (p.Ala310=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005024	NM_016247.4(IMPG2):c.2667C>T (p.Asp889=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004133	NM_016247.4(IMPG2):c.85+18T>G	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001916	NM_016247.4(IMPG2):c.889T>C (p.Ser297Pro)	IMPG2 (S297P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000992	NM_016247.4(IMPG2):c.2112G>A (p.Lys704=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988249	NM_016247.4(IMPG2):c.334+7G>A	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980998	NM_016247.4(IMPG2):c.1734C>T (p.Asp578=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975644	NM_016247.4(IMPG2):c.1239+20G>C	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963818	NM_016247.4(IMPG2):c.3036C>T (p.Asn1012=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963481	NM_016247.4(IMPG2):c.141T>C (p.Phe47=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961032	NM_016247.4(IMPG2):c.3453A>C (p.Ser1151=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920627	NM_016247.4(IMPG2):c.1468del (p.Thr490fs)	IMPG2 (T490fs)	Deletion (frameshift variant)	Retinitis pigmentosa 56	GLikely pathogenic
Select item 2920626	NM_016247.4(IMPG2):c.2894T>A (p.Met965Lys)	IMPG2 (M965K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 56	GUncertain significance
Select item 2907341	NM_016247.4(IMPG2):c.828+1G>A	IMPG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2884681	NM_016247.4(IMPG2):c.1323T>A (p.Pro441=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874373	NM_016247.4(IMPG2):c.829-13G>A	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867391	NM_016247.4(IMPG2):c.3483C>T (p.Pro1161=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864135	NM_016247.4(IMPG2):c.533+11C>G	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862104	NM_016247.4(IMPG2):c.1735C>T (p.Gln579Ter)	IMPG2 (Q579*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2861357	NM_016247.4(IMPG2):c.533+1G>A	IMPG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2860836	NM_016247.4(IMPG2):c.2809C>A (p.Pro937Thr)	IMPG2 (P937T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848714	NM_016247.4(IMPG2):c.2120C>A (p.Ser707Ter)	IMPG2 (S707*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2836083	NM_016247.4(IMPG2):c.266T>G (p.Val89Gly)	IMPG2 (V89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835484	NM_016247.4(IMPG2):c.3511G>A (p.Glu1171Lys)	IMPG2 (E1171K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819675	NM_016247.4(IMPG2):c.1240-1G>A	IMPG2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2817451	NM_016247.4(IMPG2):c.3423-17T>C	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798862	NM_016247.4(IMPG2):c.1860A>G (p.Ser620=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796805	NM_016247.4(IMPG2):c.3579G>C (p.Gly1193=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789735	NM_016247.4(IMPG2):c.1341G>A (p.Arg447=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772478	NM_016247.4(IMPG2):c.3423-19C>T	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754414	NM_016247.4(IMPG2):c.1543+7A>C	IMPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740736	NM_016247.4(IMPG2):c.334+2T>C	IMPG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2703845	NM_016247.4(IMPG2):c.2972A>G (p.Tyr991Cys)	IMPG2 (Y991C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699567	NM_016247.4(IMPG2):c.888-2A>G	IMPG2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2695562	NM_016247.4(IMPG2):c.814G>T (p.Glu272Ter)	IMPG2 (E272*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685927	GRCh37/hg19 3q12.3(chr3:100947511-101244028)x3	IMPG2, SENP7	Copy number gain	not provided	GUncertain significance
Select item 2654010	NM_016247.4(IMPG2):c.81A>T (p.Leu27Phe)	IMPG2 (L27F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654009	NM_016247.4(IMPG2):c.962C>T (p.Thr321Ile)	IMPG2 (T321I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654008	NM_016247.4(IMPG2):c.2892A>G (p.Arg964=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654007	NM_016247.4(IMPG2):c.3386C>T (p.Ala1129Val)	IMPG2 (A1129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654006	NM_016247.4(IMPG2):c.*690TA[5]	IMPG2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2627610	NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)	IMPG2 (F1016S)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5	GLikely pathogenic
Select item 2616675	NM_016247.4(IMPG2):c.2131G>C (p.Gly711Arg)	IMPG2 (G711R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615870	NM_016247.4(IMPG2):c.1378T>G (p.Ser460Ala)	IMPG2 (S460A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603223	NM_016247.4(IMPG2):c.1805G>T (p.Gly602Val)	IMPG2 (G602V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2577518	NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys)	IMPG2 (Y924C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2549039	NM_016247.4(IMPG2):c.2503G>A (p.Val835Ile)	IMPG2 (V835I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546036	NM_016247.4(IMPG2):c.2041C>T (p.Pro681Ser)	IMPG2 (P681S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545463	NM_016247.4(IMPG2):c.944G>A (p.Gly315Asp)	IMPG2 (G315D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537729	NM_016247.4(IMPG2):c.1514G>C (p.Arg505Thr)	IMPG2 (R505T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519469	NM_016247.4(IMPG2):c.1337G>A (p.Gly446Asp)	IMPG2 (G446D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498213	NM_016247.4(IMPG2):c.478G>T (p.Glu160Ter)	IMPG2 (E160*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 3	GLikely pathogenic
Select item 2444832	NM_016247.4(IMPG2):c.1484A>C (p.Gln495Pro)	IMPG2 (Q495P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440908	NM_016247.4(IMPG2):c.829-2A>T	IMPG2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2426288	NC_000003.11:g.(?_100960886)_(100962721_?)del	IMPG2	Deletion	not provided	GLikely pathogenic
Select item 2426287	NC_000003.11:g.(?_100958882)_(100962584_?)del	IMPG2	Deletion	not provided	GLikely pathogenic
Select item 2426286	NC_000003.11:g.(?_100945813)_(100948454_?)del	IMPG2	Deletion	not provided	GUncertain significance
Select item 2421630	NM_016247.4(IMPG2):c.2394G>A (p.Leu798=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416225	NM_016247.4(IMPG2):c.117A>G (p.Gln39=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412038	NM_016247.4(IMPG2):c.1782G>T (p.Glu594Asp)	IMPG2 (E594D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390780	NM_016247.4(IMPG2):c.644G>C (p.Ser215Thr)	IMPG2 (S215T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370513	NM_016247.4(IMPG2):c.2932G>A (p.Ala978Thr)	IMPG2 (A978T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336016	NM_016247.4(IMPG2):c.2831C>A (p.Thr944Lys)	IMPG2 (T944K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335010	NM_016247.4(IMPG2):c.2496T>G (p.Ile832Met)	IMPG2 (I832M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329476	NM_016247.4(IMPG2):c.340C>G (p.Gln114Glu)	IMPG2 (Q114E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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