ClinVar for MedGen (Select 140836) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523552	NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	COL11A1	Deletion (inframe_deletion +1 more)	Myopia +7 more	GLikely pathogenic
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 523366	NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)	COL5A2 (G252C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GLikely pathogenic
Select item 268045	46;XX;t(5;7)(q12.2;q21.2)mat		Translocation	Telecanthus +3 more	GUncertain significance
Select item 267867	46;XX;t(6;15)(q23;q22)dn		Translocation	Cerebral calcification +12 more	GLikely pathogenic
Select item 267825	46;XY;t(1;9;5)(compleX)dn		Translocation	Abnormality of the outer ear +10 more	GLikely pathogenic

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