acaaca rhamphophylla - ClinVar - NCBI

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The following term was not found in ClinVar: rhamphophylla.
Showing results for Acacia rhamphophylla. Your search for Acacia rhamphophylla retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033488	NM_018489.3(ASH1L):c.1404TGT[1] (p.Val470del)	ASH1L (V470del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 294302	NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del)	HMCN1 (Q5345del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 555509	NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)	USH2A (V4044del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 2805197	NM_206933.4(USH2A):c.6485+15_6485+17del	USH2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2736104	NM_206933.4(USH2A):c.1972-14_1972-12del	USH2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2016148	NM_000081.4(LYST):c.8949TGT[1] (p.Val2985del)	LYST (V2985del)	Microsatellite (inframe_deletion)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2928874	NM_001103.4(ACTN2):c.1766ACA[1] (p.Asn590del)	ACTN2 (N590del +2 more)	Microsatellite (inframe_deletion +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2109125	NM_001001957.2(OR2W3):c.833ACA[1] (p.Asn279del)	OR2W3 (N279del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1412600	NM_000379.4(XDH):c.2187TGT[1] (p.Val731del)	XDH (V731del)	Microsatellite (inframe_deletion)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 422782	NM_005633.4(SOS1):c.213+14_213+16del	SOS1	Microsatellite (intron variant)	RASopathy +3 more	GLikely benign
Select item 1368207	NM_022173.4(TIA1):c.475-12_475-10del	TIA1	Microsatellite (intron variant)	Welander distal myopathy	GUncertain significance
Select item 2690160	NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)	ST3GAL5 (V191del +3 more)	Microsatellite (inframe_deletion +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 2812878	NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)	MBD5 (T862del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3011620	NM_003742.4(ABCB11):c.1435-21TGT[3]	ABCB11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 562095	NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)	PJVK (N303del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GPathogenic/Likely pathogenic
Select item 2092524	NM_001267550.2(TTN):c.106602TGT[1] (p.Val35536del)	TTN, TTN-AS1 (V26663del +5 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 549938	NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)	CPS1 (N343del +1 more)	Microsatellite (inframe_deletion +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 551382	NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)	CPS1 (N861del +1 more)	Microsatellite (inframe_deletion +1 more)	Congenital hyperammonemia, type I	GUncertain significance
Select item 16832	NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)	DES (N366del +4 more)	Microsatellite (inframe_deletion +1 more)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1350217	NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup)	TRNT1	Microsatellite (inframe_insertion +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1758414	NM_000249.4(MLH1):c.734_736dup (p.Tyr245_Ile246insAsn)	MLH1	Duplication (inframe_insertion +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1449331	NM_052859.4(RFT1):c.342TGT[1] (p.Val116del)	RFT1 (V116del)	Microsatellite (inframe_deletion)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 3017009	NM_053025.4(MYLK):c.3986-19_3986-17del	MYLK	Microsatellite (intron variant)	Aortic aneurysm, familial thoracic 7	GLikely benign
Select item 471698	NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del)	MYLK (V395del +1 more)	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1411206	NM_004130.4(GYG1):c.1016ACA[1] (p.Asn340del)	GYG1 (N340del +2 more)	Microsatellite (inframe_deletion)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1762090	NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)	TECRL (L271del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype	GLikely pathogenic
Select item 580135	NM_001148.6(ANK2):c.6526ACA[1] (p.Thr2177del)	ANK2 (T2177del +4 more)	Microsatellite (intron variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1765676	NM_001148.6(ANK2):c.9064ACA[2] (p.Thr3024del)	ANK2 (T2946del +4 more)	Microsatellite (inframe_indel +2 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3344527	NM_176824.3(BBS7):c.851TGT[1] (p.Leu285del)	BBS7 (L285del)	Microsatellite (inframe_deletion)	BBS7-related disorder	GUncertain significance
Select item 229830	NM_000038.6(APC):c.1163ACA[1] (p.Asn389del)	APC (N371del +6 more)	Microsatellite (inframe_deletion +1 more)	Classic or attenuated familial adenomatous polyposis +1 more	GUncertain significance
Select item 1680397	NM_020117.11(LARS1):c.247TGT[1] (p.Cys84del)	LARS1 (C30del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1507910	NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del)	FOXC1 (N160del)	Microsatellite (inframe_deletion)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1951993	NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)	DSP (N2219del +2 more)	Microsatellite (inframe_deletion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 281809	NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	EYS, PHF3 (V3116del +1 more)	Microsatellite (inframe_deletion +1 more)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 1802743	NM_000535.7(PMS2):c.163+44TGT[2]	PMS2	Microsatellite (intron variant)	not specified	GLikely benign
Select item 2039110	NM_033026.6(PCLO):c.10203TGT[2] (p.Val3404del)	PCLO (V3404del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 288706	NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)	PEX1 (L879del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550239	NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del)	LOC123956210, SLC26A4 (N712del)	Microsatellite (inframe_deletion)	Pendred syndrome	GUncertain significance
Select item 1246110	NM_001024613.4(FEZF1):c.1069+18_1069+20dup	FEZF1	Duplication (intron variant)	not provided	GBenign
Select item 1556504	NM_001164665.2(KIAA1549):c.3847+18_3847+20del	KIAA1549	Microsatellite (intron variant)	not provided	GLikely benign
Select item 363394	NM_017813.5(BPNT2):c.*501TGT[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 3252663	NM_017780.4(CHD7):c.2951ACA[1] (p.Asn985del)	CHD7 (N985del)	Microsatellite (inframe_indel +2 more)	not provided	GLikely pathogenic
Select item 1733678	NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)	GDAP1 (Q122del +2 more)	Microsatellite (inframe_deletion +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 554277	NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del)	VPS13B (N3393del +1 more)	Microsatellite (inframe_deletion)	Cohen syndrome	GUncertain significance
Select item 553032	NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del)	VPS13B (N3929del +1 more)	Microsatellite (inframe_deletion)	Cohen syndrome	GUncertain significance
Select item 1723565	NM_024915.4(GRHL2):c.1784ACA[1] (p.Asn596del)	GRHL2 (N580del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 366615	NM_001497.4(B4GALT1):c.2172_2176del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 558632	NR_003051.3(RMRP):n.-17_-15dupTGT	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 1937934	NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)	DOLK	Duplication (inframe_insertion)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1199071	NM_006059.4(LAMC3):c.1383-289_1383-288insCAACA	LAMC3	Insertion (intron variant)	not provided	GLikely benign
Select item 2110365	NM_145698.5(ACBD5):c.423_425dup (p.Val142_Ile143insVal)	ACBD5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1997632	NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del)	CHAT (N487del +2 more)	Microsatellite (inframe_deletion)	Familial infantile myasthenia	GUncertain significance
Select item 1210372	NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del)	CDH23 (N3197del +2 more)	Microsatellite (inframe_deletion)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 2717922	NM_005097.4(LGI1):c.827ACA[1] (p.Asn277del)	LGI1 (N229del +1 more)	Microsatellite (inframe_deletion +1 more)	Autosomal dominant epilepsy with auditory features	GUncertain significance
Select item 2162028	NM_198075.4(LRRC56):c.440ACA[2] (p.Asn149del)	LRRC56 (N149del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 931318	NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)	BEST1 (N119del +2 more)	Microsatellite (inframe_deletion +2 more)	Vitelliform macular dystrophy 2 +2 more	GUncertain significance
Select item 1935260	NM_001567.4(INPPL1):c.2366ACA[1] (p.Asn790del)	INPPL1 (N790del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 827059	NM_005591.4(MRE11):c.745_747dup (p.Cys249dup)	MRE11	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 739114	NM_001197104.2(KMT2A):c.7021ACA[1] (p.Thr2342del)	KMT2A (T2339del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 954561	NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup)	PRICKLE1	Duplication (inframe_insertion)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1560916	NM_003482.4(KMT2D):c.1259-17TGT[2]	KMT2D	Microsatellite (intron variant)	Kabuki syndrome	GLikely benign
Select item 2820868	NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)	ACVRL1 (N151del +2 more)	Microsatellite (inframe_deletion)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 17796	NM_170665.4(ATP2A2):c.2258ACA[2] (p.Asn755del)	ATP2A2 (N755del +2 more)	Microsatellite (inframe_deletion)	Keratosis follicularis	GPathogenic
Select item 804174	NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)	PTPN11 (Q257del +1 more)	Microsatellite (inframe_deletion)	RASopathy +5 more	GConflicting classifications of pathogenicity
Select item 1693218	NM_000545.8(HNF1A):c.377ACA[1] (p.Asn127del)	HNF1A (N127del)	Microsatellite (inframe_deletion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 13091	NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)	RB1 (N480del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2446294	NM_002742.3(PRKD1):c.1923TGT[1] (p.Val643del)	PRKD1 (V555del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2853534	NM_015346.4(ZFYVE26):c.7189-15_7189-13del	ZFYVE26	Microsatellite (intron variant)	Spastic paraplegia	GLikely benign
Select item 1053404	NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)	GABRB3 (V139del +2 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 43 +2 more	GUncertain significance
Select item 962767	NM_001036.6(RYR3):c.3970ACA[2] (p.Thr1326del)	RYR3 (T1326del)	Microsatellite (inframe_deletion)	Epileptic encephalopathy	GUncertain significance
Select item 2129946	NM_005902.4(SMAD3):c.864_866dup (p.Arg288_His289insGln)	SMAD3	Duplication (inframe_insertion +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 64905	NM_000548.5(TSC2):c.821ACA[1] (p.Asn275del)	TSC2 (N275del +4 more)	Microsatellite (inframe_deletion)	Tuberous sclerosis syndrome	Gnot provided
Select item 410208	NM_024675.4(PALB2):c.3264_3266dup (p.Val1089dup)	PALB2	Duplication (inframe_insertion)	Familial cancer of breast +1 more	GUncertain significance
Select item 2023002	NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)	CLN3	Duplication (inframe_insertion)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1878831	NM_004320.6(ATP2A1):c.2261ACA[2] (p.Asn756del)	ATP2A1 (N631del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1378904	NM_138713.4(NFAT5):c.2268ACA[2] (p.Gln761del)	NFAT5 (Q760del +4 more)	Microsatellite (inframe_deletion)	Immunodeficiency	GUncertain significance
Select item 2033694	NM_000018.4(ACADVL):c.1434+6_1434+8dup	ACADVL	Duplication (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1698056	NM_020795.4(NLGN2):c.2465ACA[2] (p.Asn824del)	NLGN2 (N824del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2499822	NM_001042492.3(NF1):c.6854ACA[1] (p.Asn2286del)	NF1 (N2265del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1194910	NM_007294.4(BRCA1):c.*1337TGT[1]	BRCA1	Microsatellite (3 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 811092	NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del)	COL1A1 (L69del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 140945	NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)	BRIP1 (C88del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1372280	NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del)	COG1 (N470del)	Microsatellite (inframe_deletion)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 3252890	NM_000213.5(ITGB4):c.950ACA[1] (p.Asn318del)	ITGB4 (N318del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 932901	NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)	GAA	Duplication (inframe_insertion)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 189006	NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)	GAA (N675del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226813	NM_003803.4(MYOM1):c.2507-22TGT[2]	MYOM1	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 1705812	NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)	NPC1	Duplication (inframe_insertion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2575035	NM_030632.3(ASXL3):c.1939ACA[1] (p.Thr648del)	ASXL3 (T648del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2739890	NM_015559.3(SETBP1):c.2621ACA[2] (p.Asn876del)	SETBP1 (N876del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2586599	NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)	STK11 (N247del)	Microsatellite (inframe_indel +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1672804	NM_005535.3(IL12RB1):c.1984-15TGT[4]	IL12RB1	Microsatellite (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 969565	NM_001037.5(SCN1B):c.401ACA[1] (p.Asn135del)	SCN1B (N135del +1 more)	Microsatellite (inframe_deletion)	Brugada syndrome 5	GUncertain significance
Select item 3362467	NM_001083961.2(WDR62):c.752ACA[2] (p.Asn253del)	WDR62 (N253del)	Microsatellite	Skraban-Deardorff syndrome	GUncertain significance
Select item 3071344	NM_000540.3(RYR1):c.3149ACA[1] (p.Asn1051del)	RYR1 (N1051del)	Microsatellite (inframe_deletion)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3029108	NM_000540.3(RYR1):c.10250ACA[2] (p.Asn3419del)	RYR1 (N3419del)	Microsatellite (inframe_indel)	RYR1-related disorder	GUncertain significance
Select item 543381	NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)	PRX	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 2956321	NM_175875.5(SIX5):c.1967TGT[1] (p.Leu657del)	SIX5 (L657del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3352353	NM_019888.3(MC3R):c.350ACA[1] (p.Asn118del)	MC3R (N118del)	Microsatellite (inframe_deletion)	MC3R-related disorder	GUncertain significance
Select item 1906278	NM_005560.6(LAMA5):c.7042+12_7042+14del	LAMA5	Microsatellite (intron variant)	not provided	GLikely benign

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