C0026827[trait identifier] AND "Talkowski Laboratory, Center for Human - ClinVar

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Items: 36

	Variation	Type (Consequence)	Condition	Classification, Review status
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	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn	Translocation	Brisk reflexes +29 more	GPathogenic
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn	Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 268027	46;XY;t(2;5)(q11.2;q33.1)dn	Translocation	Hypotonia +6 more	GUncertain significance
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 268012	46;XX;t(X;19)(p11.4;q13.3)	Translocation	Intellectual disability, mild +2 more	GUncertain significance
Select item 268010	46;XX;t(2;10)(p23;q22.1)dn	Translocation	Large for gestational age +9 more	GPathogenic
Select item 268009	46;X;t(X;3)(p21.3;p25.1)dn	Translocation	Dolichocephaly +11 more	GPathogenic
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	Lumbar hypertrichosis +12 more	GPathogenic
Select item 267959	46;XY;t(1;14)(p36.22;q22.1)	Translocation	Dysarthria +2 more	GPathogenic
Select item 267956	46;XY;t(3;18)(q13.3;q21.3)dn	Translocation	Abnormal facial shape +3 more	GPathogenic
Select item 267947	46;XX;t(2;14)(q21;q24.3)dn	Translocation	Choreoathetosis +3 more	GUncertain significance
Select item 267941	46;XY;inv(6)(p22q13)dn	Inversion	Hypotonia +22 more	GPathogenic
Select item 267925	46;XX;t(1;2)(q42.3;q24.2)dn	Translocation	Inversion of nipple +13 more	GUncertain significance
Select item 267922	46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn	Translocation	Athetosis +14 more	GUncertain significance
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn	Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 267891	46;XY;t(9;15)(q13;q11.2)dn	Translocation	Receptive language delay +7 more	GPathogenic
Select item 267886	46;XX;inv(5)(p12q13.1)dn	Inversion	Autistic behavior +3 more	GLikely pathogenic
Select item 267879	46;XY;inv(1)(p11q21)dn	Inversion	Tall stature +3 more	GPathogenic
Select item 267878	46;XX;t(1;13)(p36.1;q12.1)dn	Translocation	Isolated Pierre-Robin syndrome +1 more	GUncertain significance
Select item 267876	46;XY;t(2;6)(q32.3;q25.3)dn	Translocation	Growth delay +3 more	GLikely pathogenic
Select item 267873	46;XX;t(7;16)(p15.2;q22)dn	Translocation	Delayed speech and language development +3 more	GUncertain significance
Select item 267872	46;XY;t(5;7)(q14.3;q21.3)dn	Translocation	Intellectual disability +3 more	GLikely pathogenic
Select item 267869	46;XX;t(6;13)(q21;q32)dn	Translocation	Anteverted nares +9 more	GLikely pathogenic
Select item 267855	46;XX;inv(18)(q11.2q23)dn	Inversion	Hypotonia +2 more	GLikely pathogenic
Select item 267841	46;XX;t(7;13)(p13;q34)dn	Translocation	Muscular dystrophy +18 more	GPathogenic
Select item 267839	46;XY;inv(6)(q22.2q27)dn	Inversion	Hypertelorism +20 more	GPathogenic
Select item 267837	46;XY;t(7;13)(p15.3;q14.1)dn	Translocation	Synophrys +11 more	GPathogenic
Select item 267832	46;XX;t(1;5)(p31;q33)dn	Translocation	Short philtrum +13 more	GLikely pathogenic
Select item 267824	46;XX;t(5;13)(q15;q32)dn	Translocation	Hypotonia +4 more	GUncertain significance
Select item 267813	46;X;t(X;9)(p22.2;p13)dn	Translocation	Myopia +8 more	GUncertain significance
Select item 267810	46;XX;t(4;15)(q31.3;q15)	Translocation	Asthma +5 more	GUncertain significance
Select item 267807	46;XY;t(7;9)(q21;p23)dn	Translocation	Microcephaly +5 more	GLikely pathogenic
Select item 267804	46;XX;ins(3;1)(q23;p22p32)dn	Translocation	Hemangioma +6 more	GLikely pathogenic
Select item 267802	46;XY;t(11;19)(p11.2;p13.3)dn	Translocation	Hypotonia +15 more	GPathogenic

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Items: 36