Related gene-specific medical variations for Gene (Select 165) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360521	NM_001129.5(AEBP1):c.1219C>T (p.Arg407Cys)	AEBP1 (R407C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007853	NM_001129.5(AEBP1):c.1486-8C>T	AEBP1, MIR4649	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2764710	NM_001129.5(AEBP1):c.1486-6C>T	AEBP1, MIR4649	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2440134	NM_001129.5(AEBP1):c.821del (p.Pro274fs)	AEBP1 (P274fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic-like, 2	GLikely pathogenic
Select item 2438901	NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)	AEBP1 (R65Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2	GUncertain significance
Select item 2430073	NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)	AEBP1 (C868*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 709786	NM_001129.5(AEBP1):c.1486-8C>G	AEBP1, MIR4649	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign

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