C0678230[trait identifier] AND "Talkowski Laboratory, Center for Human - ClinVar

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Items: 21

	Variation	Type (Consequence)	Condition	Classification, Review status
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn	Translocation	Atrial septal defect, ostium secundum type +26 more	GUncertain significance
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn	Translocation	Thin upper lip vermilion +22 more	GPathogenic
Select item 268018	46;XY;t(2;10)(p25;q26)dn	Translocation	Joint hypermobility +6 more	GPathogenic
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn	Translocation	Hypotonia +10 more	GUncertain significance
Select item 267941	46;XY;inv(6)(p22q13)dn	Inversion	Patent ductus arteriosus +22 more	GPathogenic
Select item 267937	46;XY;t(5;15)(q11.2;q24)	Translocation	Coarse hair +13 more	GPathogenic
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn	Translocation	Epicanthus +28 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn	Translocation	Inability to walk +17 more	GLikely pathogenic
Select item 267867	46;XX;t(6;15)(q23;q22)dn	Translocation	Speech articulation difficulties +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	Wide mouth +11 more	GLikely pathogenic
Select item 267854	46;XX;inv(2)(p23q31)dn	Inversion	Upturned corners of mouth +8 more	GPathogenic
Select item 267832	46;XX;t(1;5)(p31;q33)dn	Translocation	Medial flaring of the eyebrow +13 more	GLikely pathogenic
Select item 267828	46;XY;t(7;19)(q32;q13.1)dn	Translocation	Achalasia +13 more	GPathogenic
Select item 267825	46;XY;t(1;9;5)(compleX)dn	Translocation	Alopecia areata +10 more	GLikely pathogenic
Select item 267824	46;XX;t(5;13)(q15;q32)dn	Translocation	Hypotonia +4 more	GUncertain significance
Select item 267821	46;XX;t(3;12)(q13.2;q14)dn	Translocation	Thin upper lip vermilion +16 more	GPathogenic
Select item 267817	46;XY;t(1;5)(p35.3;q31.3)dn	Translocation	Coarctation of aorta +17 more	GPathogenic
Select item 267812	46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn	Complex	Hydrocele testis +10 more	GPathogenic
Select item 267806	46;XX;ins(1;2)(p34.2;q22q24)dn	Translocation	Clinodactyly of the 5th finger +5 more	GUncertain significance
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn	Translocation	Epicanthus +15 more	GLikely pathogenic

ClinVar

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Items: 21