phacelia tetramer - ClinVar

Search results

Items: 84

The following term was not found in ClinVar: phacelia.
Showing results for Phacelia tetramera. Your search for Phacelia tetramera retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203540	NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	ACADM (D266G +4 more)	Single nucleotide variant (missense variant)	Epileptic spasm +3 more	GPathogenic/Likely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	Epileptic spasm +5 more	GPathogenic/Likely pathogenic
Select item 12844	NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)	SPTA1 (L260P)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 12847	NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)	SPTA1	Duplication (inframe_insertion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12851	NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe)	SPTA1 (L49F)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +1 more	GUncertain significance
Select item 12856	NM_003126.4(SPTA1):c.83G>A (p.Arg28His)	SPTA1 (R28H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 12853	NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)	SPTA1 (R28L)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 12855	NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)	SPTA1 (R28C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12854	NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser)	SPTA1 (R28S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 92452	NM_000143.4(FH):c.1293del (p.Glu432fs)	FH	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic
Select item 265145	NM_000143.4(FH):c.214A>C (p.Thr72Pro)	FH (T72P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 375881	NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	DNMT3A (R693H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic STier II - Potential OOncogenic
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A, UGT1A1 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other
Select item 1700685	NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)	KCNH8 (Y100H)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 978589	NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)	PDHB (C306R +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 13188	NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)	PDHB (Y132C +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 1677243	NM_003722.5(TP63):c.290G>C (p.Arg97Pro)	TP63 (R95P +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 2446718	NM_003722.5(TP63):c.1703del (p.Gln568fs)	TP63 (Q389fs +4 more)	Deletion (frameshift variant +1 more)	Premature ovarian failure 21	GPathogenic
Select item 619065	NM_003722.5(TP63):c.1780C>T (p.Arg594Ter)	TP63 (R594* +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 1677244	NM_003722.5(TP63):c.1939C>T (p.Arg647Cys)	TP63 (R468C +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 96621	NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	BCKDHB (R324* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 1B +3 more	GPathogenic/Likely pathogenic
Select item 2402	NM_000048.4(ASL):c.532G>A (p.Val178Met)	ASL (V178M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 14420	NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	KCNH2 (A561V +4 more)	Single nucleotide variant (missense variant)	Obesity +7 more	GPathogenic/Likely pathogenic
Select item 187	NM_001385.3(DPYS):c.1235G>T (p.Arg412Met)	DPYS (R412M)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 30979	NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)	ALDOB (R46W)	Single nucleotide variant (missense variant)	ALDOB-related disorder +3 more	GUncertain significance
Select item 6328	NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	ASS1 (R363W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 15513	NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	HBB, LOC107133510 +1 more (L115P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 15536	NM_000518.4(HBB):c.202G>A (p.Val68Met)	HBB, LOC106099062 +1 more (V68M)	Single nucleotide variant (missense variant)	HEMOGLOBIN BRISTOL +1 more	Gother
Select item 306423	NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)	CTSC (C291Y)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 198030	NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1 (N158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 372297	NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	ACAD8 (A320T)	Single nucleotide variant (missense variant)	ACAD8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 6015	NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp)	DNM1L (A395D +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GPathogenic
Select item 102579	NM_000277.3(PAH):c.1249T>C (p.Tyr417His)	PAH (Y417H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3825	NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	ACADS (R46W)	Single nucleotide variant (missense variant)	ACADS-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3826	NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)	ACADS (R107C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 623120	NM_000017.4(ACADS):c.596C>T (p.Ala199Val)	ACADS (A199V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 280061	NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)	ACADS (G274S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3836	NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	ACADS (S353L +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 203560	NM_000017.4(ACADS):c.1095G>T (p.Gln365His)	ACADS (Q365H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203562	NM_000017.4(ACADS):c.1108A>G (p.Met370Val)	ACADS (M370V +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 929258	NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD (A253fs)	Deletion (frameshift variant +1 more)	Peripheral neuropathy +5 more	GPathogenic/Likely pathogenic
Select item 929257	NM_003104.6(SORD):c.895C>T (p.Arg299Ter)	SORD (R299*)	Single nucleotide variant (nonsense +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 978214	NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His)	ALDH1A3 (R96H)	Single nucleotide variant (missense variant)	Isolated anophthalmia-microphthalmia syndrome	GPathogenic
Select item 978215	NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg)	ALDH1A3, ALDH1A3-AS1 (G130R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated anophthalmia-microphthalmia syndrome	GPathogenic
Select item 1701914	NM_000693.4(ALDH1A3):c.1444del (p.Met482fs)	ALDH1A3-AS1, ALDH1A3 (M375fs +1 more)	Deletion (frameshift variant)	Microphthalmia	GPathogenic
Select item 804215	NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	HBA2, LOC106804612 (C105R)	Single nucleotide variant (missense variant)	alpha Thalassemia	GPathogenic/Likely pathogenic
Select item 15630	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	HBA2, LOC106804612 (L126P)	Single nucleotide variant (missense variant)	Hemoglobin H disease +4 more	GPathogenic
Select item 15875	NM_000558.5(HBA1):c.188_190del (p.Val63del)	HBA1, LOC106804613 (V63del)	Deletion (inframe_deletion)	Hemoglobin H disease, nondeletional +2 more	GPathogenic; other
Select item 8691	NM_005262.3(GFER):c.581G>A (p.Arg194His)	GFER (R194H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 60753	NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)	KARS1 (D377N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422725	NM_000546.6(TP53):c.1040C>T (p.Ala347Val)	TP53 (A215V +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GUncertain significance
Select item 43587	NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	TP53 (A215D +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 141893	NM_000546.6(TP53):c.1015G>C (p.Glu339Gln)	TP53 (E207Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely benign FDA Recognized database
Select item 628432	NM_000546.6(TP53):c.1013T>G (p.Phe338Cys)	TP53 (F206C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 423398	NM_000546.6(TP53):c.1013T>C (p.Phe338Ser)	TP53 (F206S +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 177879	NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	TP53 (R205P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +2 more	GLikely pathogenic
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 7 +17 more	GPathogenic/Likely pathogenic
Select item 1019612	NM_000546.6(TP53):c.1009C>A (p.Arg337Ser)	TP53 (R178S +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 428876	NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	TP53 (G202W +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GLikely pathogenic
Select item 182969	NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)	TP53 (G202R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 142273	NM_000546.6(TP53):c.998G>A (p.Arg333His)	TP53 (R201H +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 652718	NM_000546.6(TP53):c.986C>T (p.Thr329Ile)	TP53 (T329I +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 12367	NM_000546.6(TP53):c.974G>T (p.Gly325Val)	TP53 (G325V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 13444	NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	TTR (C30R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1075407	NM_000371.4(TTR):c.94C>G (p.Leu32Val)	TTR (L32V)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 13455	NM_000371.4(TTR):c.118G>A (p.Val40Ile)	TTR (V40I)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 181693	NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	TTR (P44S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1712259	NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)	TTR (E74L)	Indel (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 13438	NM_000371.4(TTR):c.224T>C (p.Leu75Pro)	TTR (L75P)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1	GPathogenic
Select item 13420	NM_000371.4(TTR):c.233T>A (p.Leu78His)	TTR (L78H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic/Likely pathogenic
Select item 13466	NM_000371.4(TTR):c.265T>C (p.Tyr89His)	TTR (Y89H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic/Likely pathogenic
Select item 13422	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	TTR (S97Y)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +6 more	GPathogenic/Likely pathogenic
Select item 13423	NM_000371.4(TTR):c.311T>G (p.Ile104Ser)	TTR (I104S)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +2 more	GPathogenic
Select item 229596	NM_000371.4(TTR):c.337-3T>C	TTR	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 13434	NM_000371.4(TTR):c.416C>T (p.Thr139Met)	TTR (T139M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	ATTRV122I amyloidosis +12 more	GPathogenic
Select item 2379	NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	BCKDHA (R265W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 212860	NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	CBS (R369C +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +6 more	GConflicting classifications of pathogenicity
Select item 863694	NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	CBS (G151R +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more	GPathogenic
Select item 188948	NM_000071.3(CBS):c.362G>A (p.Arg121His)	CBS (R121H +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 119	NM_000071.3(CBS):c.341C>T (p.Ala114Val)	CBS (A114V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GPathogenic/Likely pathogenic
Select item 29642	NM_001849.3(COL6A2):c.[2489G>A;2527C>T]	COL6A2	Single nucleotide variant (missense variant)	BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE	GPathogenic
Select item 2466	NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	ADSL (K246E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 437932	NM_005548.2(KARS1):c.[1430G>A];[1513C>T]			Leukoencephalopathy +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 84