ClinVar for MedGen (Select 18752) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571641	NM_005428.4(VAV1):c.909del (p.Asp303fs)	VAV1 (D271fs +1 more)	Deletion (frameshift variant)	Anxiety +10 more	GUncertain significance
Select item 997831	NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs)	LOC100507346, PTCH1 (L605fs +4 more)	Deletion (non-coding transcript variant +1 more)	PTCH1-related condition	GLikely pathogenic