rhynchostegium muller - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 141

<< First< Prev

Page of 2

The following term was not found in ClinVar: rhynchostegium.
Showing results for Rhynchostegium muelleri. Your search for Rhynchostegium muelleri retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13671	NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	ALPL (D378V +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +4 more	GPathogenic
Select item 8964	NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	CPT2 (P227L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GPathogenic/Likely pathogenic
Select item 99208	NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)	ABCA4 (S1071L +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +3 more	GPathogenic
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +5 more	GPathogenic/Likely pathogenic
Select item 7241	NM_003001.5(SDHC):c.3G>A (p.Met1Ile)	SDHC (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +2 more	GPathogenic
Select item 8849	NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	PSEN2 (T122P)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 8845	NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	PSEN2 (N141I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 8850	NM_000447.3(PSEN2):c.717G>A (p.Met239Ile)	PSEN2 (M239I)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GPathogenic
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +6 more	GConflicting classifications of pathogenicity
Select item 945225	NM_000143.4(FH):c.1391-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 214423	NM_000143.4(FH):c.1391-2A>T	FH	Single nucleotide variant (splice acceptor variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1322912	NM_000143.4(FH):c.1237-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 405939	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH (Q386R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 393578	NM_000143.4(FH):c.1118A>G (p.Asn373Ser)	FH (N373S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 214374	NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	FH (S365G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16235	NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	FH (R343*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 529826	NM_000143.4(FH):c.998G>A (p.Cys333Tyr)	FH (C333Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1767407	NM_000143.4(FH):c.956A>T (p.Asp319Val)	FH (D319V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 92458	NM_000143.4(FH):c.952C>T (p.His318Tyr)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 214416	NM_000143.4(FH):c.947C>A (p.Ala316Asp)	FH (A316D)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 1763347	NM_000143.4(FH):c.842C>G (p.Thr281Arg)	FH (T281R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 822414	NM_000143.4(FH):c.842C>T (p.Thr281Ile)	FH (T281I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1758652	NM_000143.4(FH):c.738G>A (p.Gln246=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1398226	NM_000143.4(FH):c.738G>C (p.Gln246His)	FH (Q246H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 844336	NM_000143.4(FH):c.704A>G (p.His235Arg)	FH (H235R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 214376	NM_000143.4(FH):c.703C>T (p.His235Tyr)	FH (H235Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 826472	NM_000143.4(FH):c.653T>G (p.Leu218Arg)	FH (L218R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 449388	NM_000143.4(FH):c.555+1G>A	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 214433	NM_000143.4(FH):c.554A>G (p.Gln185Arg)	FH (Q185R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 214432	NM_000143.4(FH):c.539A>G (p.His180Arg)	FH (H180R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1324401	NM_000143.4(FH):c.470T>G (p.Ile157Ser)	FH (I157S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 214408	NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)	FH	Microsatellite (nonsense)	not provided +2 more	GPathogenic
Select item 419237	NM_000143.4(FH):c.268-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 405920	NM_000143.4(FH):c.40dup (p.Leu14fs)	FH (L14fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 90849	NM_000251.3(MSH2):c.2006-5T>A	MSH2	Single nucleotide variant (intron variant)	Mismatch repair cancer syndrome 2	GPathogenic
Select item 208585	NM_001244710.2(GFPT1):c.*22C>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +3 more	GConflicting classifications of pathogenicity
Select item 132799	NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)	ACTG2 (R40C)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 694269	NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln)	ACTG2 (R63Q)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 132797	NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser)	ACTG2 (R148S +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GPathogenic
Select item 132800	NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)	ACTG2 (R178C +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +2 more	GPathogenic
Select item 132801	NM_001615.4(ACTG2):c.533G>A (p.Arg178His)	ACTG2 (R178H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 132798	NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu)	ACTG2 (R178L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5160	NM_006895.3(HNMT):c.314C>T (p.Thr105Ile)	HNMT (T105I)	Single nucleotide variant (missense variant)	HNMT-related disorder +1 more	GBenign; risk factor
Select item 228249	NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)	COL3A1 (G252C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 189818	NM_000751.3(CHRND):c.901_1048-282del	CHRND	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 3C	GPathogenic
Select item 189817	NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)	CHRND (E402K +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 447217	NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)	COLQ (T441A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 90404	NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)	MLH1 (L292P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 68024	NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)	SCN5A (P2005A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +10 more	GConflicting classifications of pathogenicity
Select item 67835	NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	SCN5A (T1303M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 900891	NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)	ARL6 (R122Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +3 more	GUncertain significance
Select item 65573	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD (H371fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 3175	NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	HGD (G270R)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 3168	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	HGD (G161R)	Single nucleotide variant (missense variant)	Alkaptonuria +1 more	GPathogenic
Select item 3170	NM_000187.4(HGD):c.16-1G>A	HGD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 16091	NM_000340.2(SLC2A2):c.137del (p.Leu46fs)	SLC2A2 (L46fs)	Deletion (frameshift variant +2 more)	Fanconi-Bickel syndrome	GPathogenic
Select item 30405	NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter)	CLDN16 (K205*)	Single nucleotide variant (nonsense)	Primary hypomagnesemia	GPathogenic
Select item 5940	NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter)	CLDN16	Single nucleotide variant (nonsense)	Primary hypomagnesemia	GPathogenic
Select item 5939	NM_006580.4(CLDN16):c.698C>G (p.Thr233Arg)	CLDN16	Single nucleotide variant (missense variant)	Hypercalciuria, childhood, self-limiting	GPathogenic
Select item 196597	NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)	DOK7 (S45L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 534127	NM_173660.5(DOK7):c.1406C>A (p.Pro469His)	DOK7 (P469H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 162088	NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)	BBS7 (L656fs)	Indel (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 193765	NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)	BBS7 (R346Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 16382	NM_005141.4(FGB):c.130C>T (p.Arg44Cys)	FGB (R44C)	Single nucleotide variant (missense variant)	Hypofibrinogenemia +2 more	GLikely pathogenic
Select item 16383	NM_005141.4(FGB):c.1093G>A (p.Ala365Thr)	FGB (A365T +4 more)	Single nucleotide variant (missense variant +1 more)	FIBRINOGEN PONTOISE 2	Gother
Select item 14002	NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)	MATR3 (S85C)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GPathogenic
Select item 132716	NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)	SPINK1 (R67H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GConflicting classifications of pathogenicity
Select item 16961	NM_002449.5(MSX2):c.443C>A (p.Pro148His)	MSX2 (P148H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cranium bifidum occultum	GPathogenic
Select item 407085	NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)	FIG4 (R699C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 88848	NM_013352.4(DSE):c.803C>T (p.Ser268Leu)	DSE (S268L +2 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GPathogenic
Select item 97001	NM_003764.4(STX11):c.173T>C (p.Leu58Pro)	STX11 (L58P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic
Select item 856112	NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)	BBS9 (R187* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9 +3 more	GPathogenic/Likely pathogenic
Select item 541863	NM_015450.3(POT1):c.238C>T (p.Arg80Cys)	POT1 (R80C)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 458404	NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)	WRN (L702fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 463492	NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg)	CDKN2A (P81R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 7350	NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	ASTN2, TRIM32 (D487N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 1256252	NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)	SETX (M1506T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 579304	NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)	SETX (F458L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 12199	NM_003380.5(VIM):c.451G>A (p.Glu151Lys)	VIM, VIM-AS1 (E151K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GPathogenic
Select item 488354	NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	ANXA11 (G38R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15400	NM_000518.4(HBB):c.191A>G (p.His64Arg)	HBB, LOC106099062 +1 more (H64R)	Single nucleotide variant (missense variant)	Hemoglobinopathy +1 more	GConflicting classifications of pathogenicity
Select item 15063	NM_000518.4(HBB):c.-7305_92+16del	HBB, HBD +3 more	Deletion	Hemoglobin Lepore trait	GPathogenic
Select item 8052	NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	RAPSN (L283P)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +5 more	GConflicting classifications of pathogenicity
Select item 8054	NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	RAPSN (R164C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GPathogenic/Likely pathogenic
Select item 8046	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +7 more	GPathogenic/Likely pathogenic
Select item 8053	NM_005055.5(RAPSN):c.193-15C>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 241521	NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)	BBS1 (W139*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188752	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	BBS1 (R146*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 649714	NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)	BBS1, ZDHHC24 (R483*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 140915	NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	ATM (R250Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 14653	NM_000424.4(KRT5):c.1429G>T (p.Glu477Ter)	LOC126861525, KRT5 (E477*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 2A, generalized severe	GPathogenic
Select item 66299	NM_000424.4(KRT5):c.992G>A (p.Arg331His)	KRT5 (R331H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66249	NM_000424.4(KRT5):c.506G>C (p.Arg169Pro)	KRT5 (R169P)	Single nucleotide variant (missense variant)	KRT5-related disorder	GUncertain significance
Select item 426998	NM_000424.4(KRT5):c.482T>A (p.Ile161Asn)	KRT5 (I161N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 216270	NM_000075.4(CDK4):c.460G>C (p.Val154Leu)	CDK4 (V154L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 188992	NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	BBS10 (T534fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 166723	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	BBS10 (N364fs)	Deletion	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +9 more	GPathogenic/Likely pathogenic
Select item 40482	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11 (T42A)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +8 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2