C3714756[trait identifier] AND "Diagnostic Laboratory, Strasbourg Univ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981265	NM_002074.5(GNB1):c.343G>A (p.Gly115Ser)	GNB1 (G115S +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 978895	NM_003036.4(SKI):c.1351dup (p.Gln451fs)	SKI (Q451fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 981291	NM_015215.4(CAMTA1):c.511-1G>A	CAMTA1	Single nucleotide variant (splice acceptor variant)	Intellectual disability	GPathogenic
Select item 225081	NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)	ARID1A (E2078K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 973127	NM_001371928.1(AHDC1):c.3384C>A (p.Tyr1128Ter)	AHDC1 (Y1128*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 973126	NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs)	AHDC1 (G1027fs)	Insertion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 1299762	NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)	AGO1 (L115R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 1299669	NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)	AGO1 (E120K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1299763	NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)	AGO1 (G124S +1 more)	Single nucleotide variant (missense variant)	AGO1-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 976687	NM_012199.5(AGO1):c.650-2A>G	AGO1	Single nucleotide variant (splice acceptor variant)	AGO1-associated disorder	GPathogenic
Select item 1299764	NM_012199.5(AGO1):c.758G>A (p.Arg253His)	AGO1, LOC129930123 (R178H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300186	NM_012199.5(AGO1):c.760G>A (p.Val254Ile)	AGO1, LOC129930123 (V179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251924	NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)	AGO1 (E301del +1 more)	Microsatellite (inframe_deletion)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 1300187	NM_012199.5(AGO1):c.2252A>T (p.His751Leu)	AGO1 (H676L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1300188	NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)	AGO1 (I722F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 202196	NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)	SLC2A1 (Q242*)	Single nucleotide variant (nonsense)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic
Select item 978896	NM_006516.4(SLC2A1):c.286del (p.Met96fs)	SLC2A1 (M96fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 981396	NM_006279.5(ST3GAL3):c.557+5G>A	ST3GAL3	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability	GUncertain significance
Select item 981411	NM_006279.5(ST3GAL3):c.595G>A (p.Val199Met)	ST3GAL3 (V106M +8 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GUncertain significance
Select item 297550	NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn)	STIL (D1192N +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 207798	NM_015100.4(POGZ):c.3041del (p.Gln1014fs)	POGZ (Q1014fs +4 more)	Deletion (frameshift variant)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 978915	NM_015100.4(POGZ):c.2574del (p.His858fs)	POGZ (H763fs +4 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978916	NM_015100.4(POGZ):c.2469del (p.Thr824fs)	POGZ (T729fs +4 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978967	NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs)	POGZ (K706fs +4 more)	Indel (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978914	NM_015100.4(POGZ):c.2400dup (p.Lys801fs)	POGZ (K706fs +4 more)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978964	NM_015100.4(POGZ):c.2345del (p.Cys782fs)	POGZ (C687fs +4 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978966	NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)	POGZ (Y675* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 978963	NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs)	POGZ (R645fs +4 more)	Microsatellite (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978965	NM_015100.4(POGZ):c.1079-20A>G	POGZ	Single nucleotide variant (intron variant)	Intellectual disability	GPathogenic
Select item 435290	NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)	GATAD2B (R179*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 981263	NM_020699.4(GATAD2B):c.115dup (p.Ala39fs)	GATAD2B (A39fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 981417	NM_001379403.1(WDR26):c.1944+1G>C	WDR26	Single nucleotide variant (splice donor variant)	Intellectual disability	GPathogenic
Select item 981344	NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer)	HNRNPU	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 981343	NM_031844.3(HNRNPU):c.1016A>C (p.Lys339Thr)	HNRNPU (K320T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 978909	NM_001303052.2(MYT1L):c.2671A>G (p.Ser891Gly)	MYT1L (S889G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 978911	NM_001303052.2(MYT1L):c.2423_2424del (p.Cys808fs)	MYT1L (C806fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability	GPathogenic
Select item 617454	NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)	MYT1L (T739fs +1 more)	Deletion (frameshift variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 235469	NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	MYT1L (R567Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 978910	NM_001303052.2(MYT1L):c.1579C>T (p.Leu527=)	MYT1L	Single nucleotide variant (synonymous variant)	Intellectual disability	GPathogenic
Select item 978961	NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn)	MYT1L (H522N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 978960	NM_001303052.2(MYT1L):c.1533del (p.Cys511fs)	MYT1L (C509fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978962	NM_001303052.2(MYT1L):c.505G>A (p.Glu169Lys)	MYT1L (E169K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 981260	NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)	DNMT3A (Y685N +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 981259	NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)	DNMT3A (R513C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +2 more	GConflicting classifications of pathogenicity
Select item 981258	NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)	DNMT3A (G109R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1058696	NM_001171613.2(PREPL):c.1827+5G>A	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 206257	NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly)	NRXN1 (R247G)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GUncertain significance
Select item 973119	NM_022893.4(BCL11A):c.55+1G>T	BCL11A	Single nucleotide variant (splice donor variant)	Intellectual disability	GLikely pathogenic
Select item 981385	NM_003896.4(ST3GAL5):c.1255T>C (p.Ter419Arg)	ST3GAL5	Single nucleotide variant (stop lost)	Intellectual disability	GPathogenic
Select item 666332	NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)	ST3GAL5 (G219D +4 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GLikely pathogenic
Select item 280856	NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	ZEB2 (R1016* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +2 more	GPathogenic/Likely pathogenic
Select item 160323	NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	ZEB2 (R921* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 978905	NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser)	MBD5 (P224S)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 521004	NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	MBD5 (R325*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 978957	NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs)	MBD5 (S460fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978955	NM_001378120.1(MBD5):c.3079A>G (p.Thr1027Ala)	MBD5 (T1027A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 978906	NM_001378120.1(MBD5):c.3987del (p.Ser1330fs)	MBD5 (S1097fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 978956	NM_001378120.1(MBD5):c.4648del (p.Gln1550fs)	MBD5 (Q1317fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 981434	NM_006593.4(TBR1):c.173G>T (p.Gly58Val)	TBR1 (G58V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 523674	NM_006593.4(TBR1):c.713_719del (p.Ser238fs)	TBR1 (S238fs)	Deletion (frameshift variant)	Moderate global developmental delay +2 more	GPathogenic/Likely pathogenic
Select item 523682	NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs)	TBR1 (T457fs)	Indel (frameshift variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 523685	NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)	TBR1 (Q552fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 449164	NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)	SCN2A (A240V)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 978920	NM_001040142.2(SCN2A):c.1094C>A (p.Thr365Lys)	SCN2A (T365K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 978936	NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)	SCN2A (L611fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 978924	NM_001040142.2(SCN2A):c.3440A>G (p.Asp1147Gly)	SCN2A (D1147G)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 978922	NM_001040142.2(SCN2A):c.3798del (p.Gln1267fs)	SCN2A (Q1267fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978923	NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp)	SCN2A (G1361D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 978918	NM_001040142.2(SCN2A):c.4244T>C (p.Leu1415Pro)	SCN2A (L1415P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 419721	NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)	SCN2A (R1435*)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 3 +4 more	GPathogenic/Likely pathogenic
Select item 978919	NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe)	SCN2A (L1653F)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 978921	NM_001040142.2(SCN2A):c.5046_5048delinsGG (p.Phe1682fs)	SCN2A (F1682fs)	Indel (frameshift variant)	Intellectual disability	GPathogenic
Select item 426175	NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)	LOC102724058, SCN1A (V1470I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 978917	NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr)	SCN1A (I68T +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 12889	NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SCN1A (R222*)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +6 more	GPathogenic/Likely pathogenic
Select item 978890	NM_001172509.2(SATB2):c.1762C>T (p.Gln588Ter)	LOC126806462, SATB2 (Q588*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 978888	NM_001172509.2(SATB2):c.1727del (p.Pro576fs)	SATB2 (P576fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978891	NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs)	SATB2 (N537fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978889	NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn)	SATB2 (S513N)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 662501	NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)	SATB2 (R399C)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +2 more	GPathogenic
Select item 268207	NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)	UNC80 (Q602H)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 703510	NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)	CPS1 (T1156S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 981274	NM_003590.5(CUL3):c.1445_1446del (p.Thr482fs)	CUL3 (T416fs +2 more)	Microsatellite (frameshift variant)	Intellectual disability	GUncertain significance
Select item 981364	NM_003590.5(CUL3):c.602_603dup (p.Glu202fs)	CUL3 (E136fs +2 more)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 981390	NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs)	TRIP12 (A1007fs +11 more)	Microsatellite (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 981420	NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter)	TRIP12 (Q1121* +8 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 981398	NM_001348323.3(TRIP12):c.2683C>T (p.Arg895Ter)	TRIP12 (R550* +8 more)	Single nucleotide variant (nonsense)	Intellectual disability	GUncertain significance
Select item 981418	NM_001348323.3(TRIP12):c.1336G>T (p.Glu446Ter)	TRIP12 (E101* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 516109	NM_001378414.1(HDAC4):c.871G>A (p.Ala291Thr)	HDAC4 (A291T)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 981337	NM_001378414.1(HDAC4):c.565C>T (p.Arg189Trp)	HDAC4 (R189W)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 981338	NM_001378414.1(HDAC4):c.412C>T (p.Arg138Cys)	HDAC4 (R138C)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 245852	NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)	KIF1A (P14L)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 981273	NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)	ITPR1 (R496G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 978944	NM_001080517.3(SETD5):c.648del (p.Gln216fs)	SETD5 (Q118fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978945	NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter)	SETD5 (S528* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 978946	NM_001080517.3(SETD5):c.1895G>T (p.Arg632Leu)	SETD5 (R534L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 268185	NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)	BRPF1 (V351fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability	GPathogenic
Select item 973120	NM_001003694.2(BRPF1):c.3020_3021del (p.Asp1006_Ser1007insTer)	BRPF1	Microsatellite (nonsense +1 more)	Intellectual disability	GPathogenic
Select item 973121	NM_001003694.2(BRPF1):c.3316C>G (p.Pro1106Ala)	BRPF1 (P1099A +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance

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