ClinVar for Gene (Select 1289) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236351	NM_000093.5(COL5A1):c.1020C>A (p.Tyr340Ter)	COL5A1 (Y340*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3236018	NM_000093.5(COL5A1):c.1773G>A (p.Gln591=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3230323	NM_000093.5(COL5A1):c.849C>A (p.Pro283=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230322	NM_000093.5(COL5A1):c.660C>T (p.Asp220=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230321	NM_000093.5(COL5A1):c.645G>A (p.Glu215=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230320	NM_000093.5(COL5A1):c.557A>G (p.Lys186Arg)	COL5A1 (K186R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230319	NM_000093.5(COL5A1):c.5171G>C (p.Gly1724Ala)	COL5A1, LOC101448202 (G1724A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230318	NM_000093.5(COL5A1):c.4713G>C (p.Glu1571Asp)	COL5A1, LOC101448202 (E1571D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230317	NM_000093.5(COL5A1):c.45G>C (p.Pro15=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230316	NM_000093.5(COL5A1):c.4523C>G (p.Pro1508Arg)	COL5A1, LOC101448202 (P1508R)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230315	NM_000093.5(COL5A1):c.432G>C (p.Thr144=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230314	NM_000093.5(COL5A1):c.4188C>A (p.Gly1396=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230313	NM_000093.5(COL5A1):c.4158G>C (p.Ser1386=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230311	NM_000093.5(COL5A1):c.3618G>A (p.Gln1206=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230310	NM_000093.5(COL5A1):c.3024G>T (p.Thr1008=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230309	NM_000093.5(COL5A1):c.2565C>G (p.Pro855=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230308	NM_000093.5(COL5A1):c.2344C>T (p.Pro782Ser)	COL5A1 (P782S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230307	NM_000093.5(COL5A1):c.228A>G (p.Arg76=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230306	NM_000093.5(COL5A1):c.1800T>C (p.Pro600=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230305	NM_000093.5(COL5A1):c.1632C>T (p.Ser544=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230304	NM_000093.5(COL5A1):c.1530T>C (p.Asp510=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230303	NM_000093.5(COL5A1):c.1425C>A (p.Gly475=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230302	NM_000093.5(COL5A1):c.1350C>A (p.Gly450=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075816	NM_000093.5(COL5A1):c.3688C>T (p.Gln1230Ter)	COL5A1 (Q1230*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GLikely pathogenic
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 3068687	NM_000093.5(COL5A1):c.3325C>T (p.Pro1109Ser)	COL5A1 (P1109S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 3068643	NM_000093.5(COL5A1):c.2785A>T (p.Lys929Ter)	COL5A1 (K929*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type	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 3067711	NM_000093.5(COL5A1):c.4002C>T (p.Pro1334=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 3063907	NM_000093.5(COL5A1):c.5371-14T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061226	NM_000093.5(COL5A1):c.2203C>T (p.Gln735Ter)	COL5A1 (Q735*)	Single nucleotide variant (nonsense)	COL5A1-related disorder	GLikely pathogenic
Select item 3061045	NM_000093.5(COL5A1):c.1041C>A (p.Tyr347Ter)	COL5A1 (Y347*)	Single nucleotide variant (nonsense)	COL5A1-related disorder	GPathogenic
Select item 3058540	NM_000093.5(COL5A1):c.83T>G (p.Leu28Arg)	COL5A1 (L28R)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3054827	NM_000093.5(COL5A1):c.3015G>A (p.Thr1005=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 3054682	NM_000093.5(COL5A1):c.3154C>T (p.Pro1052Ser)	COL5A1 (P1052S)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3054217	NM_000093.5(COL5A1):c.2187+10C>G	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3052475	NM_000093.5(COL5A1):c.5371-5C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	COL5A1-related disorder	GUncertain significance
Select item 3052036	NM_000093.5(COL5A1):c.2845-10C>T	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3047113	NM_000093.5(COL5A1):c.2232+6T>C	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3043155	NM_000093.5(COL5A1):c.5136+77G>T	COL5A1, LOC101448202 (R1694L)	Single nucleotide variant (missense variant +1 more)	COL5A1-related disorder	GLikely benign
Select item 3037923	NM_000093.5(COL5A1):c.5136+120G>A	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	COL5A1-related disorder	GLikely benign
Select item 3030677	NM_000093.5(COL5A1):c.2647-22T>C	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3026631	NM_000093.5(COL5A1):c.2331+3G>A	COL5A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025175	NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2961000	NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2960473	NM_000093.5(COL5A1):c.2430+5G>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2960269	NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2959940	NM_000093.5(COL5A1):c.5136+15G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign

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