coffee bakossii - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 515

<< First< Prev

Page of 6

The following term was not found in ClinVar: bakossii.
Showing results for Coffea bakossii. Your search for Coffea bakossii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 16310	NM_001002294.3(FMO3):c.442G>T (p.Gly148Ter)	FMO3, LOC126805916 (G148* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 334304	NM_015488.4(PNKD):c.-105A>T	PNKD, LOC129935594	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GLikely benign
Select item 334305	NM_015488.4(PNKD):c.-79C>A	LOC129935594, PNKD	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334306	NM_015488.4(PNKD):c.-65G>A	PNKD, LOC129935594	Single nucleotide variant	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 334307	NM_015488.5(PNKD):c.2T>G (p.Met1Arg)	LOC129935594, PNKD (M1R)	Single nucleotide variant (missense variant +1 more)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 1554107	NM_015488.5(PNKD):c.6G>T (p.Ala2=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 856769	NM_015488.5(PNKD):c.8C>T (p.Ala3Val)	LOC129935594, PNKD (A3V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2731442	NM_015488.5(PNKD):c.11T>C (p.Val4Ala)	LOC129935594, PNKD (V4A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1508800	NM_015488.5(PNKD):c.14T>G (p.Val5Gly)	PNKD, LOC129935594 (V5G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1124675	NM_015488.5(PNKD):c.15A>G (p.Val5=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 536495	NM_015488.5(PNKD):c.16G>A (p.Ala6Thr)	PNKD, LOC129935594 (A6T)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1357065	NM_015488.5(PNKD):c.17C>T (p.Ala6Val)	LOC129935594, PNKD (A6V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1893	NM_015488.5(PNKD):c.20C>T (p.Ala7Val)	LOC129935594, PNKD (A7V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2744706	NM_015488.5(PNKD):c.22A>G (p.Thr8Ala)	LOC129935594, PNKD (T8A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468627	NM_015488.5(PNKD):c.24G>A (p.Thr8=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GLikely benign
Select item 1892	NM_015488.5(PNKD):c.26C>T (p.Ala9Val)	LOC129935594, PNKD (A9V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GPathogenic/Likely pathogenic
Select item 2732069	NM_015488.5(PNKD):c.27G>A (p.Ala9=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 536505	NM_015488.5(PNKD):c.33G>A (p.Lys11=)	PNKD, LOC129935594	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2784013	NM_015488.5(PNKD):c.35G>A (p.Gly12Asp)	LOC129935594, PNKD (G12D)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2983070	NM_015488.5(PNKD):c.36C>T (p.Gly12=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 667313	NM_015488.5(PNKD):c.43dup (p.Ala15fs)	LOC129935594, PNKD (A15fs)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 334308	NM_015488.5(PNKD):c.37C>T (p.Arg13Trp)	LOC129935594, PNKD (R13W)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1630332	NM_015488.5(PNKD):c.39G>C (p.Arg13=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1423266	NM_015488.5(PNKD):c.40G>A (p.Gly14Arg)	LOC129935594, PNKD (G14R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1584200	NM_015488.5(PNKD):c.42G>A (p.Gly14=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2730009	NM_015488.5(PNKD):c.45G>A (p.Ala15=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1377758	NM_015488.5(PNKD):c.46A>G (p.Arg16Gly)	LOC129935594, PNKD (R16G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468632	NM_015488.5(PNKD):c.47G>T (p.Arg16Ile)	LOC129935594, PNKD (R16I)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2024070	NM_015488.5(PNKD):c.48A>G (p.Arg16=)	LOC129935594, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2090066	NM_015488.5(PNKD):c.49_53del (p.Asn17fs)	LOC129935594, PNKD (N17fs)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2055628	NM_015488.5(PNKD):c.55dup (p.Arg19fs)	LOC129935594, PNKD (R19fs)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1935367	NM_015488.5(PNKD):c.53C>T (p.Ala18Val)	LOC129935594, PNKD (A18V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1015237	NM_015488.5(PNKD):c.55C>G (p.Arg19Gly)	LOC129935594, PNKD (R19G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 950139	NM_015488.5(PNKD):c.55C>T (p.Arg19Cys)	LOC129935594, PNKD (R19C)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 966725	NM_015488.5(PNKD):c.61C>T (p.Leu21Phe)	LOC129935594, PNKD (L21F)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 241061	NM_015488.5(PNKD):c.65G>A (p.Arg22Gln)	LOC129935594, PNKD (R22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 935685	NM_015488.5(PNKD):c.67G>A (p.Gly23Arg)	LOC129935594, PNKD (G23R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 934150	NM_015488.5(PNKD):c.67+1G>C	LOC129935594, PNKD	Single nucleotide variant (splice donor variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GUncertain significance
Select item 1373274	NM_015488.5(PNKD):c.67+3A>G	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2200189	NM_015488.5(PNKD):c.67+12G>A	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1606419	NM_015488.5(PNKD):c.67+15C>A	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2200144	NM_015488.5(PNKD):c.67+16C>G	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1611931	NM_015488.5(PNKD):c.67+19G>C	LOC129935594, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2148111	NM_015488.5(PNKD):c.68-14A>G	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1127387	NM_015488.5(PNKD):c.68-7T>C	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1106646	NM_015488.5(PNKD):c.69G>A (p.Gly23=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 468635	NM_015488.5(PNKD):c.76_103del (p.Ala26fs)	PNKD (A26fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 937878	NM_015488.5(PNKD):c.76G>A (p.Ala26Thr)	PNKD (A26T)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2004908	NM_015488.5(PNKD):c.77C>T (p.Ala26Val)	PNKD (A26V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2182728	NM_015488.5(PNKD):c.79G>A (p.Gly27Arg)	PNKD (G27R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 569744	NM_015488.5(PNKD):c.83C>G (p.Ala28Gly)	PNKD (A28G)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1477566	NM_015488.5(PNKD):c.97G>T (p.Ala33Ser)	PNKD (A33S)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1894	NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)	PNKD (A33P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2091397	NM_015488.5(PNKD):c.99T>G (p.Ala33=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 650642	NM_015488.5(PNKD):c.101C>G (p.Ser34Cys)	PNKD (S34C)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1086447	NM_015488.5(PNKD):c.108C>T (p.Asn36=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2038567	NM_015488.5(PNKD):c.112A>C (p.Thr38Pro)	PNKD (T38P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2804690	NM_015488.5(PNKD):c.113C>T (p.Thr38Ile)	PNKD (T38I)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 2917694	NM_015488.5(PNKD):c.115C>T (p.Arg39Trp)	PNKD (R39W)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1520700	NM_015488.5(PNKD):c.116G>C (p.Arg39Pro)	PNKD (R39P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2627399	NM_015488.5(PNKD):c.122T>C (p.Leu41Pro)	PNKD (L41P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance
Select item 2096561	NM_015488.5(PNKD):c.129C>A (p.Ser43Arg)	PNKD (S43R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1523728	NM_015488.5(PNKD):c.129C>T (p.Ser43=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2126686	NM_015488.5(PNKD):c.134G>C (p.Ser45Thr)	PNKD (S45T)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2908303	NM_015488.5(PNKD):c.138C>T (p.Ser46=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1466289	NM_015488.5(PNKD):c.139C>T (p.Pro47Ser)	PNKD (P47S)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2171792	NM_015488.5(PNKD):c.141A>G (p.Pro47=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1046635	NM_015488.5(PNKD):c.142G>A (p.Glu48Lys)	PNKD (E48K)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3023770	NM_015488.5(PNKD):c.147_151del (p.Lys50fs)	PNKD (K50fs)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 536502	NM_015488.5(PNKD):c.148A>T (p.Lys50Ter)	PNKD (K50*)	Single nucleotide variant (nonsense)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 762016	NM_015488.5(PNKD):c.150G>A (p.Lys50=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2731374	NM_015488.5(PNKD):c.159T>C (p.Pro53=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 415730	NM_015488.5(PNKD):c.165C>T (p.Pro55=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GLikely benign
Select item 1148153	NM_015488.5(PNKD):c.168A>G (p.Leu56=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1051469	NM_015488.5(PNKD):c.173C>T (p.Pro58Leu)	PNKD (P58L)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1595110	NM_015488.5(PNKD):c.174G>T (p.Pro58=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1560176	NM_015488.5(PNKD):c.180G>A (p.Leu60=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1517144	NM_015488.5(PNKD):c.185A>G (p.Tyr62Cys)	PNKD (Y62C)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1077231	NM_015488.5(PNKD):c.189T>C (p.Ile63=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1519121	NM_015488.5(PNKD):c.196A>G (p.Lys66Glu)	PNKD (K66E)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1955579	NM_015488.5(PNKD):c.203G>T (p.Gly68Val)	PNKD (G68V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1720653	NM_015488.5(PNKD):c.203G>C (p.Gly68Ala)	PNKD (G68A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 837495	NM_015488.5(PNKD):c.204C>T (p.Gly68=)	PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2961617	NM_015488.5(PNKD):c.211C>G (p.Pro71Ala)	PNKD (P71A)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2842246	NM_015488.5(PNKD):c.218A>G (p.Lys73Arg)	PNKD (K73R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 952447	NM_015488.5(PNKD):c.220G>T (p.Ala74Ser)	PNKD (A74S)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1026610	NM_015488.5(PNKD):c.226G>C (p.Gly76Arg)	PNKD (G76R)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 840466	NM_015488.5(PNKD):c.229C>G (p.Leu77Val)	PNKD (L77V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1052766	NM_015488.5(PNKD):c.232_236+3del	PNKD	Deletion (splice donor variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 656211	NM_015488.5(PNKD):c.230T>C (p.Leu77Pro)	PNKD (L77P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 468625	NM_015488.5(PNKD):c.233C>T (p.Ala78Val)	PNKD (A78V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1494737	NM_015488.5(PNKD):c.236+6T>C	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 2793522	NM_015488.5(PNKD):c.236+8T>C	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2170673	NM_015488.5(PNKD):c.236+15C>A	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 2040676	NM_015488.5(PNKD):c.236+15C>G	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1631031	NM_015488.5(PNKD):c.236+18C>T	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 1624665	NM_015488.5(PNKD):c.236+18C>G	PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia	GLikely benign
Select item 518335	NM_015488.5(PNKD):c.236+1180G>A	PNKD	Single nucleotide variant (synonymous variant +1 more)	Paroxysmal nonkinesigenic dyskinesia 1	GBenign
Select item 930368	NM_015488.5(PNKD):c.237-16514T>A	PNKD (M1K)	Single nucleotide variant (missense variant +2 more)	Paroxysmal nonkinesigenic dyskinesia 1	GUncertain significance

<< First< Prev

Page of 6