ClinVar for MedGen (Select 9370) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523398	NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)	SLC9A6 (A449E +3 more)	Single nucleotide variant (missense variant)	Astigmatism +12 more	GUncertain significance
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 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

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