passiflora angulated - ClinVar - NCBI

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The following term was not found in ClinVar: passiflora.
Showing results for Passiflora angulata. Your search for Passiflora angulata retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12873	NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)	SOS1 (W432R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 694451	NM_025009.5(CEP135):c.1364A>T (p.Asp455Val)	CEP135 (D455V)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 17262	NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)	COL1A2 (G502S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 375635	NG_009873.1:g.(?_5000)_(160068_?)del	LOC130058355, LOC130058356 +7 more	Deletion	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 522462	NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)	CREBBP	Indel (stop lost)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1300180	GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1	CREBBP, LOC130058353 +2 more	Copy number loss	Rubinstein-Taybi syndrome	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 2144842	NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 592092	NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)	CREBBP (K2437N +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 2820012	NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)	CREBBP	Duplication (inframe_insertion)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 166960	NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2825802	NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)	CREBBP (T2434A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 158401	NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 2848185	NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)	CREBBP (T2393M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1980627	NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1205034	NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2863456	NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)	CREBBP (S2422R +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2141461	NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2066079	NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)	CREBBP (A2419V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2169145	NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)	CREBBP (A2381T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 458205	NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2148603	NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)	CREBBP (P2377S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1541782	NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 705723	NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 95067	NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +5 more	GBenign/Likely benign
Select item 190267	NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)	CREBBP (E2404K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 1757698	NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2026319	NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)	CREBBP (P2365A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1930123	NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2159137	NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1335203	NM_004380.3(CREBBP):c.7197C>T (p.His2399=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 2175015	NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)	CREBBP (H2361Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 778803	NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 1030788	NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	CREBBP (I2395T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GConflicting classifications of pathogenicity
Select item 1310842	NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 861595	NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr)	CREBBP (S2393T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 587495	NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)	CREBBP (A2388T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2805083	NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 746434	NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2699575	NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2884202	NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2050465	NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)	CREBBP (Q2341P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 444357	NM_004380.3(CREBBP):c.7125C>T (p.His2375=)	CREBBP	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2916643	NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)	CREBBP (H2375Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1654896	NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)	CREBBP	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 1 +2 more	GLikely benign
Select item 2910741	NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)	CREBBP (P2371T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2845916	NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1713362	NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu)	CREBBP (P2331L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 715429	NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GBenign
Select item 582844	NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del)	CREBBP	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2062500	NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1954025	NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 158399	NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)	CREBBP (A2347V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2176777	NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)	CREBBP (R2344W +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 3068070	NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)	CREBBP (V2305G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1715274	NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys)	CREBBP (N2303K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 3013002	NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 789543	NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2118250	NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)	CREBBP (A2336T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1909054	NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2897392	NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)	CREBBP (Q2295K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2803627	NM_004380.3(CREBBP):c.6983C>T (p.Ser2328Leu)	CREBBP (S2290L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2152112	NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2420096	NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2756692	NM_004380.3(CREBBP):c.6959T>C (p.Met2320Thr)	CREBBP (M2320T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 133938	NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)	CREBBP (H2319L +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder +1 more	GUncertain significance
Select item 2158345	NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2153406	NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)	CREBBP (P2311L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2068474	NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)	CREBBP (Q2310H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2901268	NM_004380.3(CREBBP):c.6909_6910delinsTA (p.Gln2303_Gln2304delinsHisLys)	CREBBP	Indel (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2879730	NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 418149	NM_004380.3(CREBBP):c.6881G>A (p.Arg2294Gln)	CREBBP (R2294Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +2 more	GUncertain significance
Select item 1718936	NM_004380.3(CREBBP):c.6871C>G (p.Leu2291Val)	CREBBP (L2253V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2201585	NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2054318	NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1208838	NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +3 more	GBenign/Likely benign
Select item 498863	NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)	CREBBP	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1098614	NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)	CREBBP (G2242E +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 752851	NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely benign
Select item 2723506	NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2051267	NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)	CREBBP (P2239S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 589227	NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val)	CREBBP (M2274V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 739510	NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +2 more	GLikely benign
Select item 1755464	NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)	CREBBP (A2227V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GBenign/Likely benign
Select item 2440546	NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)	CREBBP (Q2225H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 2444773	NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2779682	NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1986039	NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1013665	NM_004380.3(CREBBP):c.6764C>T (p.Pro2255Leu)	CREBBP (P2217L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1755315	NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)	CREBBP (P2255S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1190540	NM_004380.3(CREBBP):c.6734AGC[5] (p.Gln2248dup)	CREBBP	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196696	NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His)	CREBBP (R2249H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1912175	NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)	CREBBP (R2249C +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1755198	NM_004380.3(CREBBP):c.6734AGC[3] (p.Gln2248del)	CREBBP (Q2210del +1 more)	Microsatellite (inframe_deletion)	CREBBP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2046719	NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)	CREBBP (M2206I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2990301	NM_004380.3(CREBBP):c.6730A>C (p.Met2244Leu)	CREBBP (M2244L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1678755	NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val)	CREBBP (A2205V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1755104	NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2883527	NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)	CREBBP (P2204L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 706587	NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign

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