C0424503[trait identifier] AND "Talkowski Laboratory, Center for Human - ClinVar

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Items: 41

	Variation	Type (Consequence)	Condition	Classification, Review status
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn	Translocation	Attention deficit hyperactivity disorder +29 more	GPathogenic
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn	Translocation	Pectus excavatum +22 more	GPathogenic
Select item 268029	46;XY;t(5;19)(q33;p13.1)dn	Translocation	Intellectual disability +1 more	GPathogenic
Select item 267988	46;XY;inv(9)(p24q12)	Inversion	Involuntary movements +3 more	GUncertain significance
Select item 267984	46;XY;inv(9)(q22.3q33.2)	Inversion	Abnormal facial shape	GUncertain significance
Select item 267970	46;XX;inv(7)(p13q11.23)	Inversion	Abnormal facial shape +1 more	GPathogenic
Select item 267968	46;XX;inv(7)(q21.2q34)	Inversion	Patent ductus arteriosus +2 more	GLikely pathogenic
Select item 267956	46;XY;t(3;18)(q13.3;q21.3)dn	Translocation	Abnormal facial shape +3 more	GPathogenic
Select item 267943	46;XX;t(4;13)(q31.3;q14.3)dn	Translocation	Microcephaly +7 more	GUncertain significance
Select item 267941	46;XY;inv(6)(p22q13)dn	Inversion	Hypotonia +22 more	GPathogenic
Select item 267936	46;XY;t(12;14)(q15;q13)mat	Translocation	Attention deficit hyperactivity disorder +14 more	GUncertain significance
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn	Translocation	Short philtrum +28 more	GUncertain significance
Select item 267925	46;XX;t(1;2)(q42.3;q24.2)dn	Translocation	Inversion of nipple +13 more	GUncertain significance
Select item 267908	46;XY;t(3;18)(q13.2;q11.2)dn	Translocation	Abnormal ileum morphology +4 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn	Translocation	Posteriorly placed tongue +17 more	GLikely pathogenic
Select item 267902	46;XY;t(3;5)(q24;p15.3)dn	Translocation	Attention deficit hyperactivity disorder +13 more	GPathogenic
Select item 267890	46;XX;t(7;12)(q11.2;q12).ish	Translocation	Tetralogy of Fallot +5 more	GUncertain significance
Select item 267889	46;XX;inv(14)(q24.1q32.1)dn	Inversion	Cardiac arrhythmia +12 more	GUncertain significance
Select item 267888	46;XY;t(1;6)(p32;p24)	Translocation	Abnormal facial shape +2 more	GLikely pathogenic
Select item 267881	46;XX;t(1;5)(p23;q15)dn	Translocation	Microcephaly +3 more	GLikely pathogenic
Select item 267867	46;XX;t(6;15)(q23;q22)dn	Translocation	Cerebral calcification +12 more	GLikely pathogenic
Select item 267862	46;XY;t(1;3)(p22;q21)dn	Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267860	46;X;t(X;12)(p11.2;q24.33)dn	Translocation	Epicanthus +11 more	GLikely pathogenic
Select item 267856	46;XY;t(7;15)(q21;q26)dn	Translocation	Abnormal facial shape +16 more	GLikely pathogenic
Select item 267852	46;XY;t(2;14)(p23;q13)dn	Translocation	Mild conductive hearing impairment +12 more	GUncertain significance
Select item 267851	46;XX;ins(5;6)(p13;p24p25)dn	Translocation	Isolated Pierre-Robin syndrome +14 more	GPathogenic
Select item 267848	46;XY;t(3;10)(p26.3;q26.3)dn	Translocation	Abnormal facial shape +4 more	GPathogenic
Select item 267846	46;X;t(X;17)(q22;p13.3)dn	Translocation	Round face +8 more	GPathogenic
Select item 267845	46;X;t(X;17)(p11.23;p11.2)dn	Translocation	Global developmental delay +9 more	GUncertain significance
Select item 267844	46;XX;t(9;19)(q22.3;q13.1)dn	Translocation	Skin rash +7 more	GUncertain significance
Select item 267841	46;XX;t(7;13)(p13;q34)dn	Translocation	Muscular dystrophy +18 more	GPathogenic
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn	Complex	Growth delay +14 more	GPathogenic
Select item 267832	46;XX;t(1;5)(p31;q33)dn	Translocation	Short philtrum +13 more	GLikely pathogenic
Select item 267831	46;Y;inv(X)(q27q28)	Inversion	Macroorchidism +14 more	GUncertain significance
Select item 267828	46;XY;t(7;19)(q32;q13.1)dn	Translocation	Delayed myelination +13 more	GPathogenic
Select item 267825	46;XY;t(1;9;5)(compleX)dn	Translocation	Abnormality of the outer ear +10 more	GLikely pathogenic
Select item 267821	46;XX;t(3;12)(q13.2;q14)dn	Translocation	Craniosynostosis syndrome +16 more	GPathogenic
Select item 267819	46;X;inv(X)(q26q28)dn	Inversion	Accelerated skeletal maturation +12 more	GUncertain significance
Select item 267816	46;XY;inv(5)(q13q15)dn	Inversion	Partial duplication of thumb phalanx +4 more	GLikely pathogenic
Select item 267813	46;X;t(X;9)(p22.2;p13)dn	Translocation	Myopia +8 more	GUncertain significance
Select item 267797	46;XX;inv(2)(p11q13)dn	Inversion	Prominent forehead +9 more	GUncertain significance

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Items: 41