R94W[VARNAME] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196499	NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp)	PLEKHG5 (R25W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +21 more	GPathogenic
Select item 1976045	NM_001365999.1(SZT2):c.8839C>T (p.Arg2947Trp)	SZT2 (R2947W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001268	NM_001367561.1(DOCK7):c.280C>T (p.Arg94Trp)	DOCK7 (R94W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2256851	NM_174858.3(AK5):c.280C>T (p.Arg94Trp)	AK5 (R68W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205587	NM_199173.6(BGLAP):c.280C>T (p.Arg94Trp)	BGLAP, PMF1-BGLAP (R94W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1796304	NM_022051.3(EGLN1):c.280A>T (p.Arg94Trp)	EGLN1 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1956445	NM_001034116.2(EIF2B4):c.283C>T (p.Arg95Trp)	EIF2B4 (R64W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3178950	NM_198276.3(TMEM17):c.280C>T (p.Arg94Trp)	TMEM17 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 126967	NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	TMEM127 (R94W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1393799	NM_032357.4(CCDC115):c.304C>T (p.Arg102Trp)	CCDC115 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 346011	NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp)	LAMB2 (R94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 557814	NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	AMT (R94W +1 more)	Single nucleotide variant (missense variant +1 more)	Glycine encephalopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 3281083	NM_152785.5(GCSAM):c.274C>T (p.Arg92Trp)	C3orf52, GCSAM (R92W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1444371	NM_001353108.3(CEP63):c.643C>T (p.Arg215Trp)	CEP63 (R224W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2555864	NM_002852.4(PTX3):c.280C>T (p.Arg94Trp)	PTX3, VEPH1 (R94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175992	NM_001114394.3(TENT2):c.628C>T (p.Arg210Trp)	TENT2 (R180W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 204863	NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)	ALDH7A1 (R122W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2367395	NM_001718.6(BMP6):c.280C>T (p.Arg94Trp)	BMP6 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182323	NM_003449.5(TRIM26):c.280C>T (p.Arg94Trp)	TRIM26 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 840794	NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp)	LCA5 (R94W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449976	NM_000823.4(GHRHR):c.280C>T (p.Arg94Trp)	GHRHR (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291055	NM_001014436.3(DBNL):c.589C>T (p.Arg197Trp)	DBNL (R94W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 37010	NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	KCTD7 (R94W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GLikely pathogenic
Select item 849449	NC_000007.14:g.140834677G>A	BRAF (R146W +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2228313	NM_173832.6(ZFP41):c.280C>T (p.Arg94Trp)	ZFP41 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340606	NM_078480.3(PUF60):c.367C>T (p.Arg123Trp)	PUF60 (R105W +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1380027	NM_201384.3(PLEC):c.268C>T (p.Arg90Trp)	PLEC (R117W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +4 more	GUncertain significance
Select item 1929727	NM_004560.4(ROR2):c.280C>T (p.Arg94Trp)	ROR2 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067068	NM_007209.4(RPL35):c.280C>T (p.Arg94Trp)	RPL35 (R94W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3185971	NM_053049.4(UCN3):c.280C>T (p.Arg94Trp)	UCN3 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1011863	NM_020975.6(RET):c.1042C>T (p.Arg348Trp)	RET (R348W +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1413414	NM_145178.4(ATOH7):c.280C>T (p.Arg94Trp)	ATOH7 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394976	NM_000188.3(HK1):c.280C>T (p.Arg94Trp)	HK1 (R93W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 300308	NM_018055.5(NODAL):c.280C>T (p.Arg94Trp)	NODAL (R94W)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 2385063	NM_001394015.1(SH3PXD2A):c.679C>T (p.Arg227Trp)	SH3PXD2A (R227W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 543127	NM_024426.6(WT1):c.1468C>T (p.Arg490Trp)	WT1 (R270W +13 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +3 more	GUncertain significance
Select item 3292541	NM_001376571.1(MADD):c.484C>T (p.Arg162Trp)	MADD (R94W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 456518	NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	PYGM (R94W)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V +1 more	GPathogenic
Select item 1810086	NM_001371904.1(APOA5):c.280C>T (p.Arg94Trp)	APOA5 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1796312	NM_004588.5(SCN2B):c.280C>T (p.Arg94Trp)	SCN2B (R94W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2628069	NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)	MPZL2 (R94W)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 111	GLikely pathogenic
Select item 2311881	NM_000725.4(CACNB3):c.319C>T (p.Arg107Trp)	CACNB3 (R106W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1039100	NM_002469.3(MYF6):c.280C>T (p.Arg94Trp)	MYF6 (R94W)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 3267207	NM_018413.6(CHST11):c.295C>T (p.Arg99Trp)	CHST11 (R94W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209243	NM_002590.4(PCDH8):c.280C>T (p.Arg94Trp)	PCDH8 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 546759	NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp)	PSTPIP1 (R103W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1755490	NM_022773.4(LMF1):c.679C>T (p.Arg227Trp)	LMF1 (R10W +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2595678	NM_001243332.2(SEZ6L2):c.280C>T (p.Arg94Trp)	SEZ6L2 (R94W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1426785	NM_001379286.1(ZNF423):c.280C>T (p.Arg94Trp)	ZNF423 (R26W +2 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 418841	NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)	CDH1 (R749W +3 more)	Single nucleotide variant (missense variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 3305441	NM_022341.2(PDF):c.280C>T (p.Arg94Trp)	COG8, PDF (R94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 990424	NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)	ACSF3 (R94W)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 3189021	NM_001128159.3(VPS53):c.280C>T (p.Arg94Trp)	VPS53 (R94W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267645	NM_001201352.2(ASGR2):c.265C>T (p.Arg89Trp)	ASGR2 (R89W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312165	NM_139162.4(MIEF2):c.247C>T (p.Arg83Trp)	MIEF2 (R94W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 965685	NM_005148.4(UNC119):c.280C>T (p.Arg94Trp)	UNC119 (R94W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3280796	NM_139285.4(GAS2L2):c.280C>T (p.Arg94Trp)	GAS2L2 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2887860	NM_007144.3(PCGF2):c.280C>T (p.Arg94Trp)	PCGF2 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099711	NM_032484.5(GHDC):c.280C>T (p.Arg94Trp)	GHDC (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328654	NM_145255.4(MRPL10):c.250C>T (p.Arg84Trp)	MRPL10 (R84W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 821835	NM_006361.6(HOXB13):c.280C>T (p.Arg94Trp)	HOXB13 (R94W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1024085	NM_017763.6(RNF43):c.661C>T (p.Arg221Trp)	RNF43 (R221W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2358530	NM_022579.3(CSHL1):c.349C>T (p.Arg117Trp)	CSHL1 (R117W +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512693	NM_001098832.2(VCF1):c.443C>T (p.Pro148Leu)	VCF1 (P127L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501984	NM_173630.4(RTTN):c.280C>T (p.Arg94Trp)	RTTN (R94W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2526979	NM_012283.2(KCNG2):c.280C>T (p.Arg94Trp)	KCNG2 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077288	NM_139161.5(CRB3):c.280C>T (p.Arg94Trp)	CRB3 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207000	NM_020533.3(MCOLN1):c.280C>T (p.Arg94Trp)	MCOLN1 (R94W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 459950	NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)	GCDH (R94W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 937784	NM_005535.3(IL12RB1):c.160C>T (p.Arg54Trp)	IL12RB1 (R54W +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2382160	NM_004864.4(GDF15):c.280C>T (p.Arg94Trp)	GDF15 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 572048	NM_033453.4(ITPA):c.403C>T (p.Arg135Trp)	ITPA, LOC130065322 (R135W +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 3127783	NM_153360.3(APCDD1L):c.247C>T (p.Arg83Trp)	APCDD1L (R94W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514899	NM_024663.4(NPEPL1):c.424C>T (p.Arg142Trp)	NPEPL1, STX16-NPEPL1 (R142W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237732	NM_015666.4(MTG2):c.226C>T (p.Arg76Trp)	MTG2 (R76W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1523099	NM_152906.7(TANGO2):c.620C>T (p.Pro207Leu)	TANGO2 (P109L +7 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2160312	NM_000377.3(WAS):c.280C>T (p.Arg94Trp)	WAS (R94W)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +2 more	GUncertain significance
Select item 2571773	NM_021120.4(DLG3):c.1291C>T (p.Arg431Trp)	DLG3, DLG3-AS1 (R431W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 79