ClinVar for PubMed (Select 27841880) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 1 to 100 of 246

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 268045	46;XX;t(5;7)(q12.2;q21.2)mat		Translocation	Specific learning disability +3 more	GUncertain significance
Select item 268044	46;XX;ins(2;9)(q24.3;p22.1p24.3)dn		Translocation	Delayed speech and language development +19 more	GPathogenic
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn		Complex	Drooling +16 more	GPathogenic
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Generalized opacification of the cornea +26 more	GUncertain significance
Select item 268041	46;XY;t(5;7)(q35;q33)dn		Translocation	Premature eruption of permanent teeth +6 more	GPathogenic
Select item 268040	46;XY;t(1;3)(p32.1;p25)		Translocation	Delayed speech and language development +6 more	GUncertain significance
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn		Translocation	Attention deficit hyperactivity disorder +29 more	GPathogenic
Select item 268038	46;XY;t(6;16)(p21.1;q21)dn		Translocation	Polymicrogyria +10 more	GUncertain significance
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 268036	46;XX;t(2;10)(q22;22.3)dn		Translocation	Obesity +15 more	GPathogenic
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Thin upper lip vermilion +22 more	GPathogenic
Select item 268034	46;XY;t(1;10;4)(p32.2;q21.1;q23)dn		Translocation	Intellectual disability +4 more	GUncertain significance
Select item 268033	46;X;t(X;3)(p11.23;q13.2)dn		Translocation	Seizure	GLikely pathogenic
Select item 268032	46;XY;t(2;10)(p15;p14)dn		Translocation	Specific learning disability +9 more	GUncertain significance
Select item 268031	46;XY;t(7;12)(q21;q21)dn		Translocation	Male infertility	GUncertain significance
Select item 268030	46;XY;t(10;17)(p13;q23)dn		Translocation	Isolated Pierre-Robin syndrome +13 more	GUncertain significance
Select item 268029	46;XY;t(5;19)(q33;p13.1)dn		Translocation	Abnormal facial shape +1 more	GPathogenic
Select item 268028	46;XY;t(1;14)(p32.1;q32.1)dn		Translocation	Congenital sensorineural hearing impairment +2 more	GUncertain significance
Select item 268027	46;XY;t(2;5)(q11.2;q33.1)dn		Translocation	Protruding tongue +6 more	GUncertain significance
Select item 268026	46;XX;t(7;14)(p15;q24)dn		Translocation	Frontal bossing +13 more	GUncertain significance
Select item 268025	46;XX;t(6;21)(q14;q21)dn		Translocation	Clinodactyly of the 5th finger +7 more	GLikely pathogenic
Select item 268024	46;XY;t(2;19)(q12;p13.2)dn		Translocation	Motor delay +8 more	GUncertain significance
Select item 268023	46;X;t(X;21)(q26.1;q21.22)dn		Translocation	Camptodactyly of finger +15 more	GUncertain significance
Select item 268022	46;XY;t(2;4)(p23;q27)dn		Translocation	Global developmental delay +1 more	GLikely pathogenic
Select item 268021	46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn		Complex	Clubfoot +9 more	GUncertain significance
Select item 268020	46;XX;inv(1)(p36q25)dn		Inversion	Abnormality of prenatal development or birth	GLikely pathogenic
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 268018	46;XY;t(2;10)(p25;q26)dn		Translocation	Clubfoot +6 more	GPathogenic
Select item 268017	46;XY;t(2;17)(p25;q23)dn		Translocation	Delayed speech and language development +3 more	GPathogenic
Select item 268016	46;XY;inv(1)(p22.3p34.1)dn		Inversion	Blepharophimosis +8 more	GPathogenic
Select item 268015	46;XY;t(1;14)(q42.1;q31.1)dn		Translocation	Chronic constipation +2 more	GUncertain significance
Select item 268014	46;XY;inv(2)(q11.2q33)dn		Inversion	Prominent nasal bridge +9 more	GLikely pathogenic
Select item 268013	46;XX;inv(6)(p11.1q21)dn		Inversion	Abnormality of the eye +1 more	GUncertain significance
Select item 268012	46;XX;t(X;19)(p11.4;q13.3)		Translocation	Intellectual disability, mild +2 more	GUncertain significance
Select item 268011	46;XX;t(17;22)(q23;q12.2)dn		Translocation	Short metatarsal +10 more	GUncertain significance
Select item 268010	46;XX;t(2;10)(p23;q22.1)dn		Translocation	Hypernasal speech +9 more	GPathogenic
Select item 268009	46;X;t(X;3)(p21.3;p25.1)dn		Translocation	Dolichocephaly +11 more	GPathogenic
Select item 268008	46;XX;inv(5)(q14q33)dn		Inversion	Protruding tongue +7 more	GUncertain significance
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn		Translocation	Hypotonia +10 more	GUncertain significance
Select item 268006	46;XY;t(6;11)(p12.3;p14.2)dn		Translocation	Hypotonia +12 more	GPathogenic
Select item 268005	46;XX;t(8;14)(q21.2;q12)dn		Translocation	Pectus excavatum +11 more	GLikely pathogenic
Select item 268004	46;XX;t(16;22)(q23.2;q13.3)		Translocation	Failure to thrive	GUncertain significance
Select item 268003	46;XY;t(5;15)(q13.1;q13)		Translocation	Abnormality of prenatal development or birth	GPathogenic
Select item 268002	46;XY;t(1;5)(p34.1;q13.1)		Translocation	Atypical behavior	GUncertain significance
Select item 268001	46;XY;inv(8)(q21.2q24.11)		Inversion	Global developmental delay	GUncertain significance
Select item 268000	46;XY;inv(2)(q21.3q32.1)mat		Inversion	Seizure	GUncertain significance
Select item 267999	46;XY;t(2;18)(p16.2;q21.1)		Translocation	Autistic behavior	GUncertain significance
Select item 267998	46;XY;inv(1)(q25.3q31.2).ish		Inversion	Global developmental delay	GUncertain significance
Select item 267997	46;XY;t(5;8)(q15;q22.1)		Translocation	Abnormality of prenatal development or birth	GUncertain significance
Select item 267996	46;XY;inv(4)(q12q13.2)		Inversion	Delayed puberty +1 more	GUncertain significance
Select item 267995	46;XY;inv(11)(p13q25)		Inversion	Speech apraxia	GUncertain significance
Select item 267994	46;XY;inv(22)(q11.2q13.3)		Inversion	Global developmental delay	GLikely pathogenic
Select item 267993	46;XY;t(2;12)(p25.1;p11.2)dn		Translocation	Global developmental delay	GPathogenic
Select item 267992	46;XY;t(5;18)(q33.3;q21.2)dn		Translocation	Small for gestational age	GUncertain significance
Select item 267991	46;XX;inv(12)(p11.2q15)		Inversion	Seizure +1 more	GUncertain significance
Select item 267990	46;XX;inv(2)(q13q14.2)		Inversion	Global developmental delay +1 more	GUncertain significance
Select item 267989	46;XY;t(2;3)(q23;q13.32)		Translocation	Global developmental delay	GUncertain significance
Select item 267988	46;XY;inv(9)(p24q12)		Inversion	Involuntary movements +3 more	GUncertain significance
Select item 267987	46;XY;inv(6)(p11.2q25.3)		Inversion	Delayed speech and language development +1 more	GUncertain significance
Select item 267986	46;XX;inv(13)(q21.2q32.3)		Inversion	Short stature +1 more	GUncertain significance
Select item 267985	46;XY;inv(9)(p21.2p22.1)		Inversion	Encephalopathy	GUncertain significance
Select item 267984	46;XY;inv(9)(q22.3q33.2)		Inversion	Abnormal facial shape	GUncertain significance
Select item 267983	46;XY;t(11;12)(q25;q24.11)		Translocation	Global developmental delay	GUncertain significance
Select item 267982	46;XY;t(10;11)(q24.3;q21)		Translocation	Seizure	GUncertain significance
Select item 267981	46;XY;t(13;14)(q32;q21.2)		Translocation	Autistic behavior	GUncertain significance
Select item 267980	46;XY;t(1;3)(q32.3;q21.1)		Translocation	Abnormality of the nervous system	GUncertain significance
Select item 267979	46;XX;t(7;18)(p15;q21.1)		Translocation	Failure to thrive +2 more	GUncertain significance
Select item 267978	46;XY;t(7;12)(q21.2;q14.2)		Translocation	Slurred speech	GLikely pathogenic
Select item 267977	46;XY;t(6;14)(q21;q32.1)		Translocation	Failure to thrive	GUncertain significance
Select item 267976	46;XY;inv(14)(q13q24.1)		Inversion	Encephalopathy	GLikely pathogenic
Select item 267975	46;XY;t(6;13)(q15;q22.3)		Translocation	Global developmental delay +1 more	GUncertain significance
Select item 267974	46;XY;t(1;15)(p22.3;q15)		Translocation	Short stature	GPathogenic
Select item 267973	46;X;inv(X)(q22.3q26)		Inversion	Delayed skeletal maturation +1 more	GUncertain significance
Select item 267972	46;XY;inv(17)(q24q25)		Inversion	Failure to thrive	GUncertain significance
Select item 267971	46;X;inv(X)(q27q28)		Inversion	Insulin resistance +3 more	GUncertain significance
Select item 267970	46;XX;inv(7)(p13q11.23)		Inversion	Abnormal facial shape +1 more	GPathogenic
Select item 267969	46;X;inv(X)(p11.21p11.23)		Inversion	Short stature +1 more	GUncertain significance
Select item 267968	46;XX;inv(7)(q21.2q34)		Inversion	Abnormal facial shape +2 more	GLikely pathogenic
Select item 267967	46;XX;inv(6)(p22.2q23.3)		Inversion	Aplasia/Hypoplasia of the breasts +1 more	GUncertain significance
Select item 267966	46;XX;t(2;5)(q33;p15.3)		Translocation	Oppositional defiant disorder +5 more	GUncertain significance
Select item 267965	46;XX;t(1;5)(p32.1;q31.3)		Translocation	Aplasia of the uterus	GUncertain significance
Select item 267964	46;XX;add(1)(q32.1)		Translocation	Primary amenorrhea	GUncertain significance
Select item 267963	46;XY;t(5;9)(q11.1;q22.33)		Translocation	Global developmental delay	GUncertain significance
Select item 267961	46;XY;t(4;14)(p15.1;q13)		Translocation	Abnormal mandible morphology +2 more	GUncertain significance
Select item 267960	46;XY;t(16;17)(p13.3;p11.1)		Translocation	Abnormal skull morphology +2 more	GUncertain significance
Select item 267959	46;XY;t(1;14)(p36.22;q22.1)		Translocation	Dysarthria +2 more	GPathogenic
Select item 267958	46;XY;inv(10)(q21.2q22.3)pat		Inversion	Hypoplastic left heart syndrome	GLikely pathogenic
Select item 267957	46;XX;t(5;15)(q15;q26.3)dn		Translocation	Global developmental delay	GLikely pathogenic
Select item 267956	46;XY;t(3;18)(q13.3;q21.3)dn		Translocation	Abnormal facial shape +3 more	GPathogenic
Select item 267955	46;XX;t(3;14)(q25;q11.2)dn		Translocation	Autistic behavior	GPathogenic
Select item 267954	46;XY;inv(12)(p12.1q21.2)dn		Inversion	Autistic behavior	GPathogenic
Select item 267953	46;XY;t(1;6)(p22;q15)dn		Translocation	Congenital diaphragmatic hernia	GUncertain significance
Select item 267952	46;XX;t(9;16)(q22.3;p11.2)dn		Translocation	Autistic behavior +2 more	GUncertain significance
Select item 267951	46;XX;inv(3)(q13.2q28-29)dn		Inversion	Autistic behavior	GUncertain significance
Select item 267950	46;XY;t(2;9)(p13;q34.3)pat		Translocation	Autistic behavior	GUncertain significance
Select item 267949	46;XY;t(3;6)(q26.2;q16.2)dn		Translocation	Autistic behavior	GUncertain significance
Select item 267948	46;XY;t(6;9)(q16.2;q13)dn		Translocation	Autistic behavior	GUncertain significance
Select item 267947	46;XX;t(2;14)(q21;q24.3)dn		Translocation	Dyskinesia +3 more	GUncertain significance
Select item 267946	46;XX;inv(4)(q34.2q35.2).ish		Inversion	Microtia +1 more	GUncertain significance
Select item 267945	46;XY;t(1;18)(q32.1;q22.1)		Translocation	Mild global developmental delay +5 more	GUncertain significance

<< First< Prev

Page of 3