C2750076[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280322	NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	ANO5 (K102fs +1 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +3 more	GPathogenic
Select item 96688	NM_213599.3(ANO5):c.989dup (p.Leu330fs)	ANO5 (L329fs +1 more)	Duplication (frameshift variant)	Gnathodiaphyseal dysplasia +2 more	GPathogenic
Select item 452453	NM_213599.3(ANO5):c.1081G>C (p.Asp361His)	ANO5 (D361H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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