ClinVar for MedGen (Select 78660) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068722	NM_000093.5(COL5A1):c.74T>C (p.Leu25Pro)	COL5A1 (L25P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3068024	NM_000093.5(COL5A1):c.3883C>T (p.Leu1295Phe)	COL5A1 (L1295F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3066249	NM_000093.5(COL5A1):c.1494G>A (p.Arg498=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3066240	NM_000093.5(COL5A1):c.3475-6C>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
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 3023201	NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)	COL5A1 (E1118V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
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 3022050	NM_000093.5(COL5A1):c.4554+20T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3021674	NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)	COL5A1, LOC101448202 (D1641N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3017735	NM_000093.5(COL5A1):c.2035-13T>C	COL5A1	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 3016454	NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3016425	NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=)	COL5A1	Single nucleotide variant (synonymous 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 3015751	NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly)	COL5A1 (R410G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3015613	NM_000093.5(COL5A1):c.867G>A (p.Glu289=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3015281	NM_000093.5(COL5A1):c.1092C>A (p.Pro364=)	COL5A1	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 3014831	NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile)	COL5A1 (T957I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
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 3012871	NM_000093.5(COL5A1):c.2700+19C>G	COL5A1	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 3008367	NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly)	COL5A1 (A1290G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3008169	NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)	COL5A1 (P1187L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3008005	NM_000093.5(COL5A1):c.278-13_278-12del	COL5A1	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3006598	NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)	COL5A1 (P1350T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
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 3004329	NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3004284	NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)	COL5A1	Microsatellite (inframe_deletion)	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 3002192	NM_000093.5(COL5A1):c.2701-10C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2998755	NM_000093.5(COL5A1):c.5068-14C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
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 2997797	NM_000093.5(COL5A1):c.1828-11C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2997606	NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu)	COL5A1 (P312L)	Indel (missense 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 2993937	NM_000093.5(COL5A1):c.2406T>G (p.Gly802=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
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 2993133	NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)	COL5A1, LOC101448202 (E1698G)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2992318	NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu)	COL5A1 (P1293L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2991592	NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)	COL5A1 (G883S)	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 2989520	NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)	COL5A1 (A737G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2989347	NM_000093.5(COL5A1):c.2953-10C>T	COL5A1	Single nucleotide variant (intron 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 2988636	NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser)	COL5A1 (P1148S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2988330	NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2986906	NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)	COL5A1 (G849R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2985601	NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)	COL5A1 (A381S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2984919	NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)	COL5A1 (K807E)	Single nucleotide variant (missense 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 2984474	NM_000093.5(COL5A1):c.4955-20T>G	COL5A1, LOC101448202	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 2983370	NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)	COL5A1, LOC101448202 (I1611F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
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 2982164	NM_000093.5(COL5A1):c.2746-19T>G	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2981937	NM_000093.5(COL5A1):c.3853-20C>T	COL5A1	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 2981622	NM_000093.5(COL5A1):c.924+17G>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
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 2980885	NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)	COL5A1, LOC101448202	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 2974648	NM_000093.5(COL5A1):c.2845-17C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
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 2971431	NM_000093.5(COL5A1):c.2047C>T (p.Leu683=)	COL5A1	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 2969419	NM_000093.5(COL5A1):c.2287-12C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2968747	NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)	COL5A1 (Q113R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2967940	NM_000093.5(COL5A1):c.5370+16C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2966843	NM_000093.5(COL5A1):c.4609-12CT[3]	COL5A1, LOC101448202	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2966727	NM_000093.5(COL5A1):c.2134-4G>T	COL5A1	Single nucleotide variant (intron 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 2965788	NM_000093.5(COL5A1):c.655-20G>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
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 2964546	NM_000093.5(COL5A1):c.1796C>T (p.Pro599Leu)	COL5A1 (P599L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2964467	NM_000093.5(COL5A1):c.2647-12A>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2963497	NM_000093.5(COL5A1):c.5137-12_5137-11del	COL5A1, LOC101448202	Deletion (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
Select item 2961844	NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)	COL5A2 (V472I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance

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