C3809320[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64356	NM_173551.5(ANKS6):c.1973-3C>G	ANKS6	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 996118	NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala)	ANKS6 (D313A)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GLikely pathogenic
Select item 996117	NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro)	ANKS6 (A312P)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GLikely pathogenic

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