ClinVar for Gene (Select 1290) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369583	NM_000393.5(COL5A2):c.2499+1G>A	COL5A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3369544	NM_000393.5(COL5A2):c.3395A>T (p.Asp1132Val)	COL5A2 (D1132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369431	NM_000393.5(COL5A2):c.1456-4A>G	COL5A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3367301	NM_000393.5(COL5A2):c.2798G>A (p.Gly933Glu)	COL5A2 (G933E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366511	NM_000393.5(COL5A2):c.4456G>C (p.Asp1486His)	COL5A2 (D1486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365566	NM_000393.5(COL5A2):c.692G>A (p.Gly231Asp)	COL5A2 (G231D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365551	NM_000393.5(COL5A2):c.2949del (p.Gly984fs)	COL5A2 (G984fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364883	NM_000393.5(COL5A2):c.3873C>G (p.His1291Gln)	COL5A2 (H1291Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364829	NM_000393.5(COL5A2):c.352C>A (p.Pro118Thr)	COL5A2 (P118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363807	NM_000393.5(COL5A2):c.507A>C (p.Gln169His)	COL5A2 (Q169H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361956	NM_000393.5(COL5A2):c.3806A>C (p.His1269Pro)	COL5A2 (H1269P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360561	NM_000393.5(COL5A2):c.419A>C (p.Gln140Pro)	COL5A2 (Q140P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359391	NM_000393.5(COL5A2):c.3074C>T (p.Thr1025Ile)	COL5A2 (T1025I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359309	NM_000393.5(COL5A2):c.542A>G (p.His181Arg)	COL5A2 (H181R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356738	NM_000393.5(COL5A2):c.883C>T (p.Leu295Phe)	COL5A2 (L295F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349026	NM_000393.5(COL5A2):c.2331T>G (p.Gly777=)	COL5A2	Single nucleotide variant (synonymous variant)	COL5A2-related disorder	GLikely benign
Select item 3345506	NM_000393.5(COL5A2):c.3963A>C (p.Glu1321Asp)	COL5A2 (E1321D)	Single nucleotide variant (missense variant)	COL5A2-related disorder	GUncertain significance
Select item 3345179	NM_000393.5(COL5A2):c.2302G>A (p.Gly768Arg)	COL5A2 (G768R)	Single nucleotide variant (missense variant)	COL5A2-related disorder	GUncertain significance
Select item 3344593	NM_000393.5(COL5A2):c.1105-8T>C	COL5A2	Single nucleotide variant (intron variant)	COL5A2-related disorder	GLikely benign
Select item 3344431	NM_000393.5(COL5A2):c.3971_3974del (p.Ile1324fs)	COL5A2 (I1324fs)	Deletion (frameshift variant)	COL5A2-related disorder	GLikely pathogenic
Select item 3340891	NM_000393.5(COL5A2):c.452G>T (p.Arg151Ile)	COL5A2 (R151I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337954	NM_000393.5(COL5A2):c.3437G>T (p.Gly1146Val)	COL5A2 (G1146V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337953	NM_000393.5(COL5A2):c.3604C>T (p.Arg1202Ter)	COL5A2 (R1202*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3268768	NM_000393.5(COL5A2):c.1134T>C (p.Gly378=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268767	NM_000393.5(COL5A2):c.630A>G (p.Leu210=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268766	NM_000393.5(COL5A2):c.529G>A (p.Gly177Arg)	COL5A2 (G177R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268764	NM_000393.5(COL5A2):c.4080T>C (p.Val1360=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268763	NM_000393.5(COL5A2):c.3667C>G (p.Pro1223Ala)	COL5A2 (P1223A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268762	NM_000393.5(COL5A2):c.3205G>A (p.Asp1069Asn)	COL5A2 (D1069N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268761	NM_000393.5(COL5A2):c.1856C>A (p.Pro619His)	COL5A2 (P619H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3255178	NM_000393.5(COL5A2):c.3229G>A (p.Gly1077Ser)	COL5A2 (G1077S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 3253209	NM_000393.5(COL5A2):c.2792C>A (p.Pro931His)	COL5A2 (P931H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251512	NM_000393.5(COL5A2):c.2715+5G>A	COL5A2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3247151	NC_000002.11:g.(?_189839216)_(190445186_?)del	COL3A1, COL5A2 +2 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 3247150	NC_000002.11:g.(?_189839216)_(189923639_?)del	COL3A1, COL5A2	Deletion	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3235144	NM_000393.5(COL5A2):c.3404A>G (p.Asp1135Gly)	COL5A2 (D1135G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 3234663	NM_000393.5(COL5A2):c.2661T>A (p.His887Gln)	COL5A2 (H887Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234461	NM_000393.5(COL5A2):c.442C>A (p.Pro148Thr)	COL5A2 (P148T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3231609	NM_000393.5(COL5A2):c.57G>T (p.Gly19=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231608	NM_000393.5(COL5A2):c.4209C>T (p.Tyr1403=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231607	NM_000393.5(COL5A2):c.3924T>C (p.Ser1308=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231606	NM_000393.5(COL5A2):c.3873C>T (p.His1291=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231605	NM_000393.5(COL5A2):c.3816G>A (p.Leu1272=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231604	NM_000393.5(COL5A2):c.3540A>G (p.Pro1180=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231602	NM_000393.5(COL5A2):c.18G>A (p.Ala6=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3231601	NM_000393.5(COL5A2):c.1893A>G (p.Glu631=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3068869	NM_000393.5(COL5A2):c.852+11A>T	COL5A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3068599	NM_000393.5(COL5A2):c.2017C>A (p.Pro673Thr)	COL5A2 (P673T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 3067905	NM_000393.5(COL5A2):c.970G>A (p.Gly324Ser)	COL5A2 (G324S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 3057792	NM_000393.5(COL5A2):c.1060-4T>A	COL5A2	Single nucleotide variant (intron variant)	COL5A2-related disorder	GLikely benign
Select item 3048933	NM_000393.5(COL5A2):c.-10dup	COL5A2	Duplication (5 prime UTR variant)	COL5A2-related disorder	GLikely benign
Select item 3048315	NM_000393.5(COL5A2):c.-5del	COL5A2	Deletion (5 prime UTR variant)	COL5A2-related disorder	GLikely benign
Select item 3038339	NM_000393.5(COL5A2):c.1879G>A (p.Gly627Arg)	COL5A2 (G627R)	Single nucleotide variant (missense variant)	COL5A2-related disorder	GUncertain significance
Select item 3030787	NM_000393.5(COL5A2):c.4062T>C (p.Ser1354=)	COL5A2	Single nucleotide variant (synonymous variant)	COL5A2-related disorder	GLikely benign
Select item 3023974	NM_000393.5(COL5A2):c.402+15C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3022217	NM_000393.5(COL5A2):c.2499+19G>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3017649	NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 3016729	NM_000393.5(COL5A2):c.3633+9A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3016045	NM_000393.5(COL5A2):c.456+10C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3015789	NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3015085	NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3014838	NM_000393.5(COL5A2):c.2229+15G>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3014378	NM_000393.5(COL5A2):c.2130+13A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3012931	NM_000393.5(COL5A2):c.97+10C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3012106	NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn)	COL5A2 (D1365N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3010562	NM_000393.5(COL5A2):c.1717-10T>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3008423	NM_000393.5(COL5A2):c.2770-14del	COL5A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3004792	NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)	COL5A2 (F1251L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3004550	NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)	COL5A2 (R821Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3003920	NM_000393.5(COL5A2):c.2770-18C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3003781	NM_000393.5(COL5A2):c.2661+10C>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3003558	NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)	COL5A2 (P811T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3003147	NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3002385	NM_000393.5(COL5A2):c.500C>A (p.Pro167His)	COL5A2 (P167H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2997944	NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2996978	NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)	COL5A2 (Q878R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2996866	NM_000393.5(COL5A2):c.3363+18_3363+21del	COL5A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2996242	NM_000393.5(COL5A2):c.2770-14_2770-11del	COL5A2	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2996145	NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)	COL5A2 (G357D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2993525	NM_000393.5(COL5A2):c.1158+20A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2993327	NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)	COL5A2 (P850R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2990794	NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2989247	NM_000393.5(COL5A2):c.1869+3G>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2984899	NM_000393.5(COL5A2):c.2032-13A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2984488	NM_000393.5(COL5A2):c.961-18A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2983692	NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)	COL5A2 (G612R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2982539	NM_000393.5(COL5A2):c.2337+8_2337+10del	COL5A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2982457	NM_000393.5(COL5A2):c.3040-19A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2981936	NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)	COL5A2 (D1072N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2981334	NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2976534	NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)	COL5A2 (P962L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2974291	NM_000393.5(COL5A2):c.3525+15G>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2971953	NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2971027	NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2966681	NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr)	COL5A2 (P1112T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2966651	NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)	COL5A2 (C76Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2966537	NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2966489	NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)	COL5A2 (A1052S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2965579	NM_000393.5(COL5A2):c.1617+17A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2962866	NM_000393.5(COL5A2):c.2445+8A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign

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