Cynanchum medium - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 5379

<< First< Prev

Page of 54

The following term was not found in ClinVar: Cynanchum.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292249	NM_000302.3(PLOD1):c.-77G>A	PLOD1	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292250	NM_000302.3(PLOD1):c.-64C>G	PLOD1	Single nucleotide variant	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 292251	NM_000302.4(PLOD1):c.-61C>T	PLOD1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 292252	NM_000302.4(PLOD1):c.-58G>A	PLOD1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 292253	NM_000302.4(PLOD1):c.-39G>T	PLOD1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 422689	NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)	PLOD1 (M1fs)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 993527	NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)	PLOD1 (R2W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2776602	NM_000302.4(PLOD1):c.9C>T (p.Pro3=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2825739	NM_000302.4(PLOD1):c.10C>T (p.Leu4=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1895815	NM_000302.4(PLOD1):c.25C>T (p.Leu9=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 841701	NM_000302.4(PLOD1):c.30G>A (p.Leu10=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 264292	NM_000302.4(PLOD1):c.30G>C (p.Leu10=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1575875	NM_000302.4(PLOD1):c.33C>T (p.Gly11=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2624639	NM_000302.4(PLOD1):c.48C>T (p.Ala16=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 459820	NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)	PLOD1 (A18T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1081323	NM_000302.4(PLOD1):c.54G>A (p.Ala18=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3015845	NM_000302.4(PLOD1):c.60C>T (p.Gly20=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2100839	NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)	PLOD1 (D21G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 849224	NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)	PLOD1 (D21E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 1044112	NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)	PLOD1 (P24L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 930584	NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)	PLOD1 (P24R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 2913799	NM_000302.4(PLOD1):c.72G>T (p.Pro24=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1157415	NM_000302.4(PLOD1):c.72G>A (p.Pro24=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1311895	NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)	PLOD1 (E25A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 1563613	NM_000302.4(PLOD1):c.76+10C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2726184	NM_000302.4(PLOD1):c.76+11G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2714275	NM_000302.4(PLOD1):c.76+13A>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2869329	NM_000302.4(PLOD1):c.76+14G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2150078	NM_000302.4(PLOD1):c.76+15G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 506373	NM_000302.4(PLOD1):c.76+17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GBenign/Likely benign
Select item 2762710	NM_000302.4(PLOD1):c.76+22del	PLOD1	Deletion (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GBenign
Select item 2700597	NM_000302.4(PLOD1):c.76+19G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2852577	NM_000302.4(PLOD1):c.76+20G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 811539	NM_000302.4(PLOD1):c.77-3407C>T	LOC112577486, PLOD1 (H42Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 994332	NM_000302.4(PLOD1):c.77-3403T>C	LOC112577486, PLOD1 (L43P)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 1679508	NM_000302.4(PLOD1):c.77-3370G>A	LOC112577486, PLOD1 (R54Q)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GBenign/Likely benign
Select item 1285073	NM_000302.4(PLOD1):c.77-3358C>T	LOC112577486, PLOD1 (S58F)	Single nucleotide variant (missense variant +1 more)	PLOD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1330603	NM_000302.4(PLOD1):c.77-3351T>C	LOC112577486, PLOD1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2921261	NM_000302.4(PLOD1):c.77-3339C>T	LOC112577486, PLOD1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GBenign
Select item 1331080	NM_000302.4(PLOD1):c.77-3320G>C	LOC112577486, PLOD1 (G71R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3012313	NM_000302.4(PLOD1):c.77-20A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2955977	NM_000302.4(PLOD1):c.77-20A>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 2783568	NM_000302.4(PLOD1):c.77-19T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2865907	NM_000302.4(PLOD1):c.77-18A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2875728	NM_000302.4(PLOD1):c.77-17C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1544618	NM_000302.4(PLOD1):c.77-17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2170671	NM_000302.4(PLOD1):c.77-16C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2909206	NM_000302.4(PLOD1):c.77-13C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2790375	NM_000302.4(PLOD1):c.77-13C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 459827	NM_000302.4(PLOD1):c.77-7T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2782274	NM_000302.4(PLOD1):c.77-6C>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1518363	NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser)	PLOD1 (N27S +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 966563	NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)	PLOD1 (L75I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2849163	NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)	PLOD1 (L29* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 292277	NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)	PLOD1 (V30A +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 2831298	NM_000302.4(PLOD1):c.90C>T (p.Val30=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 264381	NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)	PLOD1 (T32M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1960945	NM_000302.4(PLOD1):c.96G>A (p.Thr32=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 459803	NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	PLOD1 (E37K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 529358	NM_000302.4(PLOD1):c.114C>T (p.Thr38=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 659426	NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)	PLOD1 (E86K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 744864	NM_000302.4(PLOD1):c.117G>A (p.Glu39=)	PLOD1	Single nucleotide variant (synonymous variant)	PLOD1-related disorder +2 more	GLikely benign
Select item 459806	NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)	PLOD1 (R42C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1429713	NM_000302.4(PLOD1):c.125G>A (p.Arg42His)	PLOD1 (R42H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 806064	NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys)	PLOD1 (R90C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 1370972	NM_000302.4(PLOD1):c.128G>A (p.Arg43His)	PLOD1 (R90H +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 529356	NM_000302.4(PLOD1):c.135G>A (p.Lys45=)	PLOD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 242450	NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)	PLOD1 (R46C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 440169	NM_000302.4(PLOD1):c.137G>A (p.Arg46His)	PLOD1 (R46H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1073871	NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)	PLOD1 (Q49* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 2733827	NM_000302.4(PLOD1):c.153dup (p.Asn52fs)	PLOD1 (N52fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 765090	NM_000302.4(PLOD1):c.159C>T (p.Tyr53=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 520105	NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)	PLOD1 (Q56* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GPathogenic
Select item 2847230	NM_000302.4(PLOD1):c.168+1G>T	PLOD1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3024052	NM_000302.4(PLOD1):c.168+9T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2861664	NM_000302.4(PLOD1):c.168+16G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2791006	NM_000302.4(PLOD1):c.169-17G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2803128	NM_000302.4(PLOD1):c.169-16G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2851089	NM_000302.4(PLOD1):c.169-12G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 292278	NM_000302.4(PLOD1):c.169-11T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GConflicting classifications of pathogenicity
Select item 645355	NC_000001.11:g.(?_11949763)_(11952745_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 1588279	NM_000302.4(PLOD1):c.169-6C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2778022	NM_000302.4(PLOD1):c.169-4C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1043095	NM_000302.4(PLOD1):c.170C>T (p.Ala57Val)	PLOD1 (A104V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 2744047	NM_000302.4(PLOD1):c.171G>A (p.Ala57=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1565960	NM_000302.4(PLOD1):c.174T>G (p.Leu58=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 1482139	NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala)	PLOD1 (G106A +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 263887	NM_000302.4(PLOD1):c.177C>T (p.Gly59=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 2854592	NM_000302.4(PLOD1):c.180A>G (p.Leu60=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2735026	NM_000302.4(PLOD1):c.180del (p.Glu62fs)	PLOD1 (E109fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 1309819	NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu)	PLOD1 (G108E +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2786004	NM_000302.4(PLOD1):c.183G>A (p.Gly61=)	PLOD1	Single nucleotide variant (synonymous variant)	PLOD1-related disorder +1 more	GLikely benign
Select item 292279	NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys)	PLOD1 (E62K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 1086824	NM_000302.4(PLOD1):c.189C>T (p.Asp63=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1010342	NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)	PLOD1 (N112Y +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 950019	NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)	PLOD1 (T117M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2581328	NM_000302.4(PLOD1):c.210G>A (p.Thr70=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 1430625	NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu)	PLOD1 (S118L +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 2917137	NM_000302.4(PLOD1):c.213G>A (p.Ser71=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1055789	NM_000302.4(PLOD1):c.215C>T (p.Ala72Val)	PLOD1 (A119V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance

<< First< Prev

Page of 54