A92T[VARNAME] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633546	NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)	GNB1 (A92T)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 2391771	NM_006474.5(PDPN):c.274G>A (p.Ala92Thr)	PDPN (A168T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238628	NM_001371928.1(AHDC1):c.4318G>A (p.Ala1440Thr)	AHDC1 (A1440T +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2213869	NM_014747.3(RIMS3):c.274G>A (p.Ala92Thr)	RIMS3 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874608	NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr)	GPSM2 (A92T)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 1730184	NM_003001.5(SDHC):c.331G>A (p.Ala111Thr)	SDHC (A58T +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1095716	NM_003001.5(SDHC):c.495G>A (p.Gly165=)	SDHC (A111T +2 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2281791	NM_001244753.2(FCGR3B):c.583G>A (p.Ala195Thr)	FCGR3B (A194T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 424923	NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)	CRB1 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GConflicting classifications of pathogenicity
Select item 2245919	NM_032324.3(NTPCR):c.274G>A (p.Ala92Thr)	NTPCR (A92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337347	NM_005378.6(MYCN):c.274G>A (p.Ala92Thr)	MYCN, MYCNOS (A92T)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2251561	NM_006887.5(ZFP36L2):c.274G>A (p.Ala92Thr)	ZFP36L2 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1518126	NM_001171613.2(PREPL):c.7G>A (p.Ala3Thr)	PREPL (A3T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309940	NM_003038.5(SLC1A4):c.1168G>A (p.Ala390Thr)	SLC1A4 (A390T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232151	NM_016058.5(TPRKB):c.274G>A (p.Ala92Thr)	TPRKB (A59T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 331331	NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr)	MBD5 (A92T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 391839	NM_022168.4(IFIH1):c.274G>A (p.Ala92Thr)	IFIH1 (A92T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2156139	NM_025216.3(WNT10A):c.274G>A (p.Ala92Thr)	WNT10A (A92T)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GLikely pathogenic
Select item 2054456	NM_000249.4(MLH1):c.274G>A (p.Ala92Thr)	MLH1 (A92T)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2676582	NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)	MLH1 (A125T +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2354691	NM_001008392.2(CTDSPL):c.274G>A (p.Ala92Thr)	CTDSPL (A81T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285854	NM_001394783.1(CCR5):c.274G>A (p.Ala92Thr)	CCR5, CCR5AS (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358381	NM_016479.6(SHISA5):c.274G>A (p.Ala92Thr)	SHISA5 (A92T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401716	NM_019555.3(ARHGEF3):c.274G>A (p.Ala92Thr)	ARHGEF3 (A92T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1577459	NM_004068.4(AP2M1):c.199G>A (p.Ala67Thr)	AP2M1 (A67T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3318167	NM_018986.5(SH3TC1):c.502G>A (p.Ala168Thr)	SH3TC1 (A168T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1319851	NM_006206.6(PDGFRA):c.274G>A (p.Ala92Thr)	PDGFRA (A105T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102968	NM_001370181.1(GSTCD):c.274G>A (p.Ala92Thr)	GSTCD (A92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151217	NM_015577.3(RAI14):c.265G>A (p.Ala89Thr)	RAI14 (A92T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448339	NM_001903.5(CTNNA1):c.1723G>A (p.Ala575Thr)	CTNNA1 (A544T +7 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2263032	NM_033449.3(FCHSD1):c.274G>A (p.Ala92Thr)	FCHSD1 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313567	NM_178424.2(SOX30):c.274G>A (p.Ala92Thr)	SOX30 (A92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1400276	NM_032122.5(DTNBP1):c.325G>A (p.Ala109Thr)	DTNBP1 (A74T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2342719	NM_001128164.2(ATXN1):c.274G>A (p.Ala92Thr)	ATXN1 (A92T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2822599	NM_000322.5(PRPH2):c.274G>A (p.Ala92Thr)	PRPH2 (A92T)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 2476668	NM_017696.3(MCM9):c.472G>A (p.Ala158Thr)	MCM9 (A158T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1598675	NM_001374828.1(ARID1B):c.274G>A (p.Ala92Thr)	ARID1B, LOC115308161 +1 more (A92T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3218871	NM_004562.3(PRKN):c.274G>A (p.Ala92Thr)	PRKN (A92T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096876	NM_024919.6(FRMD1):c.274G>A (p.Ala92Thr)	FRMD1 (A24T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1792408	NM_000535.7(PMS2):c.251-1G>A	PMS2 (A92T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1035380	NM_000238.4(KCNH2):c.562G>A (p.Ala188Thr)	KCNH2 (A188T +3 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 810257	NM_178857.6(RP1L1):c.274G>A (p.Ala92Thr)	RP1L1 (A92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149503	NM_001308093.3(GATA4):c.274G>A (p.Ala92Thr)	GATA4 (A92T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 3181513	NM_001025253.3(TPD52):c.250G>A (p.Ala84Thr)	TPD52, TPD52-MRPS28 (A84T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786128	NM_001352702.2(PTK2):c.2467G>A (p.Ala823Thr)	PTK2 (A661T +27 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1053177	NM_201384.3(PLEC):c.316G>A (p.Ala106Thr)	PLEC (A106T +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more	GUncertain significance
Select item 245681	NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)	CDKN2A (A143T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3152830	NM_021111.3(RECK):c.658G>A (p.Ala220Thr)	RECK (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595959	NM_025211.4(GKAP1):c.274G>A (p.Ala92Thr)	GKAP1 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5744	NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)	SLC27A4 (A92T)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 299253	NM_006214.4(PHYH):c.574G>A (p.Ala192Thr)	PHYH (A192T +3 more)	Single nucleotide variant (missense variant +1 more)	Phytanic acid storage disease +2 more	GUncertain significance
Select item 2214124	NM_001042357.5(PTPN20):c.301G>A (p.Ala101Thr)	PTPN20 (A92T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1426865	NM_013314.4(BLNK):c.274G>A (p.Ala92Thr)	BLNK (A92T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2438651	NM_001385875.1(ZFYVE27):c.310G>A (p.Ala104Thr)	ZFYVE27 (A104T +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 3054387	NM_001272046.2(VWA2):c.274G>A (p.Ala92Thr)	VWA2 (A92T)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 939851	NM_177972.3(TUB):c.274G>A (p.Ala92Thr)	RIC3, TUB (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2221914	NM_006906.2(PTPN5):c.346G>A (p.Ala116Thr)	PTPN5 (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437205	NM_003356.4(UCP3):c.274G>A (p.Ala92Thr)	UCP3 (A92T)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 2979771	NM_001655.5(ARCN1):c.538G>A (p.Ala180Thr)	ARCN1 (A179T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021469	NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr)	FGD4 (A144T +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2080122	NM_000785.4(CYP27B1):c.274G>A (p.Ala92Thr)	CYP27B1 (A92T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427251	NM_000231.3(SGCG):c.274G>A (p.Ala92Thr)	SGCG (A110T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2312684	NM_001127202.4(PCID2):c.280G>A (p.Ala94Thr)	PCID2 (A94T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 825151	NM_002382.5(MAX):c.475G>A (p.Ala159Thr)	MAX (A96T +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 959087	NM_002382.5(MAX):c.301G>A (p.Ala101Thr)	MAX (A101T +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2273491	NM_145870.3(GSTZ1):c.400G>A (p.Ala134Thr)	GSTZ1 (A134T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554351	NM_007039.4(PTPN21):c.274G>A (p.Ala92Thr)	PTPN21 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485945	NM_138790.5(PLD4):c.253G>A (p.Ala85Thr)	PLD4 (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383748	NM_001286496.2(PIF1):c.274G>A (p.Ala92Thr)	PIF1 (A39T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255822	NM_024608.4(NEIL1):c.580G>A (p.Ala194Thr)	NEIL1 (A280T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051993	NM_032808.7(LINGO1):c.274G>A (p.Ala92Thr)	LINGO1 (A86T +1 more)	Single nucleotide variant (missense variant)	LINGO1-related disorder	GLikely benign
Select item 2254835	NM_005632.3(CAPN15):c.274G>A (p.Ala92Thr)	CAPN15 (A92T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2126524	NM_007317.3(KIF22):c.274G>A (p.Ala92Thr)	KIF22 (A24T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2279919	NM_002383.4(MAZ):c.274G>A (p.Ala92Thr)	MAZ (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 44177	NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)	LOC130058878, CTF1 (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 2633782	NM_198390.3(CMIP):c.274G>A (p.Ala92Thr)	CMIP, LOC130059505 (A92T)	Single nucleotide variant (missense variant)	CMIP-related disorder	GUncertain significance
Select item 2490197	NM_024731.4(KLHL36):c.274G>A (p.Ala92Thr)	KLHL36 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370497	NM_001142864.4(PIEZO1):c.1729G>A (p.Ala577Thr)	HSALR1, PIEZO1 (A92T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405598	NM_013337.4(TIMM22):c.274G>A (p.Ala92Thr)	TIMM22 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1500449	NM_053013.4(ENO3):c.403G>A (p.Ala135Thr)	ENO3 (A144T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2309480	NM_017533.2(MYH4):c.274G>A (p.Ala92Thr)	MYH4, MYHAS (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320620	NM_033133.5(CNP):c.274G>A (p.Ala92Thr)	CNP (A72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 868341	NM_007294.4(BRCA1):c.274G>A (p.Ala92Thr)	BRCA1 (A45T +4 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	Gnot provided
Select item 2356368	NM_032376.4(TMEM101):c.274G>A (p.Ala92Thr)	LOC126862572, TMEM101 (A34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188987	NM_004655.4(AXIN2):c.274G>A (p.Ala92Thr)	AXIN2 (A92T)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 2601383	NM_001142958.2(FBXO15):c.502G>A (p.Ala168Thr)	FBXO15 (A168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094367	NM_018708.3(FEM1A):c.274G>A (p.Ala92Thr)	FEM1A (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518686	NM_001080452.2(GPR108):c.1000G>A (p.Ala334Thr)	GPR108 (A317T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 970064	NM_001367823.1(ARHGEF18):c.1312G>A (p.Ala438Thr)	ARHGEF18 (A196T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385583	NM_003765.3(STX10):c.421G>A (p.Ala141Thr)	STX10 (A141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1042677	NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)	CEBPA (A197T +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2525223	NM_198089.3(ZNF155):c.274G>A (p.Ala92Thr)	ZNF155 (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557903	NM_013361.6(ZNF223):c.274G>A (p.Ala92Thr)	ZNF223 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 191106	NM_000554.6(CRX):c.274G>A (p.Ala92Thr)	CRX (A92T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2715700	NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)	RRAS (A92T)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 2330092	NM_001648.2(KLK3):c.403G>A (p.Ala135Thr)	KLK3 (A135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179758	NM_021784.5(FOXA2):c.274G>A (p.Ala92Thr)	FOXA2 (A92T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2208928	NM_024663.4(NPEPL1):c.274G>A (p.Ala92Thr)	NPEPL1, STX16-NPEPL1 (A44T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1018904	NM_001958.5(EEF1A2):c.274G>A (p.Ala92Thr)	EEF1A2 (A92T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GPathogenic
Select item 1415879	NM_001283009.2(RTEL1):c.274G>A (p.Ala92Thr)	RTEL1, RTEL1-TNFRSF6B (A92T)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance

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