R248Q[VARNAME] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228246	NM_030937.6(CCNL2):c.1409G>A (p.Arg470Gln)	CCNL2 (R248Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130677	NM_001170535.3(ATAD3A):c.980G>A (p.Arg327Gln)	ATAD3A (R375Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464387	NM_004672.5(MAP3K6):c.767G>A (p.Arg256Gln)	MAP3K6 (R248Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 661966	NM_005356.5(LCK):c.896G>A (p.Arg299Gln)	LCK (R248Q +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to LCK deficiency	GUncertain significance
Select item 3171432	NM_001282547.2(STK40):c.743G>A (p.Arg248Gln)	STK40 (R253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090191	NM_024066.3(ERI3):c.977G>A (p.Arg326Gln)	ERI3 (R248Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386134	NM_020524.4(PBXIP1):c.1208G>A (p.Arg403Gln)	PBXIP1 (R374Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157220	NM_001105203.2(RUSC1):c.2468G>A (p.Arg823Gln)	RUSC1 (R354Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1429245	NM_022367.4(SEMA4A):c.1250G>A (p.Arg417Gln)	SEMA4A (R318Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2460882	NM_017542.5(POGK):c.743G>A (p.Arg248Gln)	POGK (R130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349159	NM_001042552.3(TATDN3):c.806G>A (p.Arg269Gln)	TATDN3 (R248Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2388899	NM_001366245.2(LIN9):c.899G>A (p.Arg300Gln)	LIN9 (R281Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594967	NM_182828.4(GDF7):c.743G>A (p.Arg248Gln)	GDF7 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082321	NM_198963.3(DHX57):c.743G>A (p.Arg248Gln)	DHX57 (R146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 184990	NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)	MSH6 (R248Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 2182315	NM_019885.4(CYP26B1):c.968G>A (p.Arg323Gln)	CYP26B1 (R248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1131106	NM_001557.4(CXCR2):c.743G>A (p.Arg248Gln)	CXCR2 (R248Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2460908	NM_022340.4(RBSN):c.743G>A (p.Arg248Gln)	RBSN (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 133829	NM_170662.5(CBLB):c.743G>A (p.Arg248Gln)	CBLB (R248Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 3086920	NM_001100121.2(ECE2):c.389G>A (p.Arg130Gln)	ECE2, EEF1AKMT4-ECE2 (R176Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1058532	NM_018192.4(P3H2):c.743G>A (p.Arg248Gln)	P3H2 (R248Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797824	NM_001382273.1(TNK2):c.647G>A (p.Arg216Gln)	TNK2 (R248Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3142270	NM_001812.4(CENPC):c.743G>A (p.Arg248Gln)	CENPC (R248Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2604928	NM_018227.6(UBA6):c.743G>A (p.Arg248Gln)	UBA6 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513380	NM_001080477.4(TENM3):c.1559G>A (p.Arg520Gln)	TENM3 (R248Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537665	NM_001395207.1(SORBS2):c.854G>A (p.Arg285Gln)	SORBS2 (R231Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1010861	NM_198253.3(TERT):c.743G>A (p.Arg248Gln)	TERT (R248Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 1147868	NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln)	MAP3K1 (R248Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 3123882	NM_001164664.2(MAST4):c.1310G>A (p.Arg437Gln)	MAST4 (R231Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872350	NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)	HSD17B4 (R111Q +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1387456	NM_001903.5(CTNNA1):c.2192G>A (p.Arg731Gln)	CTNNA1 (R361Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522084	NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)	LOC121740638, TFAP2A +1 more (R248Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2327657	NM_001271944.2(TFEB):c.701G>A (p.Arg234Gln)	TFEB (R248Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 569233	NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln)	SUN1 (R331Q +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2370999	NM_002510.3(GPNMB):c.743G>A (p.Arg248Gln)	GPNMB (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470760	NM_001014436.3(DBNL):c.743G>A (p.Arg248Gln)	DBNL (R154Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183996	NM_002541.4(OGDH):c.755G>A (p.Arg252Gln)	OGDH (R263Q +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2361377	NM_003596.4(TPST1):c.743G>A (p.Arg248Gln)	TPST1 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1930672	NM_001061.7(TBXAS1):c.944G>A (p.Arg315Gln)	TBXAS1 (R361Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571503	NM_015178.3(RHOBTB2):c.677G>A (p.Arg226Gln)	RHOBTB2 (R226Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2234369	NM_032664.3(FUT10):c.743G>A (p.Arg248Gln)	FUT10 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2187432	NM_007198.4(PLPBP):c.749G>A (p.Arg250Gln)	PLPBP (R260Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16303	NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)	FGFR1 (R250Q +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic
Select item 3285967	NM_005536.4(IMPA1):c.743G>A (p.Arg248Gln)	IMPA1 (R248Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 931255	NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln)	NDUFAF6 (R137Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 653439	NM_201384.3(PLEC):c.332G>A (p.Arg111Gln)	PLEC (R79Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 366321	NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln)	SMARCA2 (R1560Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414192	NM_005802.5(TOPORS):c.743G>A (p.Arg248Gln)	TOPORS (R183Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1758925	NM_198252.3(GSN):c.590G>A (p.Arg197Gln)	GSN (R248Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3103184	NM_012087.4(GTF3C5):c.743G>A (p.Arg248Gln)	GTF3C5 (R74Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202395	NM_001130969.3(NSMF):c.743G>A (p.Arg248Gln)	NSMF (R246Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085501	NM_138778.5(DPH7):c.809G>A (p.Arg270Gln)	DPH7 (R136Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147179	NM_001368882.1(COL13A1):c.1406G>A (p.Arg469Gln)	COL13A1 (R248Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205234	NM_000278.5(PAX2):c.674G>A (p.Arg225Gln)	PAX2 (R248Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080530	NM_030912.3(TRIM8):c.743G>A (p.Arg248Gln)	TRIM8 (R216Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3109895	NM_001042536.3(INSC):c.743G>A (p.Arg248Gln)	INSC (R283Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228771	NM_006133.3(DAGLA):c.743G>A (p.Arg248Gln)	DAGLA (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242804	NM_003952.3(RPS6KB2):c.743G>A (p.Arg248Gln)	RPS6KB2 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 837193	NM_003977.4(AIP):c.920G>A (p.Arg307Gln)	AIP (R248Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2589346	NM_025208.5(PDGFD):c.761G>A (p.Arg254Gln)	PDGFD (R254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 479015	NM_000051.4(ATM):c.743G>A (p.Arg248Gln)	ATM (R248Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 2314943	NM_001142276.2(APLP2):c.1211G>A (p.Arg404Gln)	APLP2 (R348Q +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164130	NM_001286234.2(SLC2A14):c.674G>A (p.Arg225Gln)	SLC2A14 (R225Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1460645	NM_005276.4(GPD1):c.812G>A (p.Arg271Gln)	GPD1 (R248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2216315	NM_175066.4(DDX51):c.743G>A (p.Arg248Gln)	DDX51 (R248Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1420679	NM_002863.5(PYGL):c.743G>A (p.Arg248Gln)	PYGL (R214Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI +1 more	GConflicting classifications of pathogenicity
Select item 956568	NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln)	SYNE2 (R248Q +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	GUncertain significance
Select item 2218929	NM_001193315.2(VIPAS39):c.776G>A (p.Arg259Gln)	VIPAS39 (R179Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3144313	NM_001275.4(CHGA):c.1196G>A (p.Arg399Gln)	CHGA (R399Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 708693	NM_019074.4(DLL4):c.743G>A (p.Arg248Gln)	DLL4 (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3190544	NM_006154.4(NEDD4):c.743G>A (p.Arg248Gln)	NEDD4 (R667Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208799	NM_001323532.2(PARP6):c.743G>A (p.Arg248Gln)	PARP6 (R248Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370474	NM_005545.4(ISLR):c.743G>A (p.Arg248Gln)	ISLR (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137141	NM_005632.3(CAPN15):c.743G>A (p.Arg248Gln)	CAPN15 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3074843	NM_002474.3(MYH11):c.722G>A (p.Arg241Gln)	MYH11 (R241Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1984623	NM_153603.4(COG7):c.743G>A (p.Arg248Gln)	COG7 (R248Q)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 1406806	NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln)	CLN3 (R172Q +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 3141106	NM_001257.5(CDH13):c.602G>A (p.Arg201Gln)	CDH13 (R162Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561838	NM_001128159.3(VPS53):c.1337G>A (p.Arg446Gln)	VPS53 (R417Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594066	NM_001288702.2(GGT6):c.761G>A (p.Arg254Gln)	GGT6 (R216Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2065683	NM_014804.3(KIAA0753):c.1640G>A (p.Arg547Gln)	KIAA0753 (R248Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 3168810	NM_001243439.2(SPECC1):c.743G>A (p.Arg248Gln)	SPECC1 (R167Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 768875	NM_033419.5(PGAP3):c.743G>A (p.Arg248Gln)	PGAP3 (R197Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2565277	NM_005486.3(TOM1L1):c.974G>A (p.Arg325Gln)	TOM1L1 (R325Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298392	NM_024612.5(DHX40):c.743G>A (p.Arg248Gln)	DHX40 (R171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094354	NM_024417.5(FDXR):c.725G>A (p.Arg242Gln)	FDXR (R202Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1677131	NM_000154.2(GALK1):c.743G>A (p.Arg248Gln)	GALK1 (R248Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2394265	NM_012336.4(NARF):c.743G>A (p.Arg248Gln)	NARF (R200Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214064	NM_001395333.1(MTCL1):c.1823G>A (p.Arg608Gln)	MTCL1 (R248Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164728	NM_012319.4(SLC39A6):c.743G>A (p.Arg248Gln)	SLC39A6 (R248Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1513306	NM_032737.4(LMNB2):c.743G>A (p.Arg248Gln)	LMNB2 (R248Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 251752	NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	LDLR (R416Q +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 2553171	NM_005716.4(GIPC1):c.743G>A (p.Arg248Gln)	GIPC1 (R248Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156565	NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln)	PROKR2 (R248Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 2581631	NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)	NDUFAF5 (R119Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3060391	NM_005297.4(MCHR1):c.743G>A (p.Arg248Gln)	MCHR1 (R248Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2454997	NM_138415.5(PHF21B):c.1355G>A (p.Arg452Gln)	PHF21B (R452Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1691040	NM_001291867.2(NHS):c.743G>A (p.Arg248Gln)	NHS (R248Q +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1033569	NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln)	CDKL5 (R248Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance

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