ClinVar for MedGen (Select 8511) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598989	NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)	USH2A, USH2A-AS2 (G1668V)	Single nucleotide variant (missense variant)	Abnormal upper limb bone morphology +15 more	GUncertain significance
Select item 598988	NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val)	MYHAS, MYH8 (I1915V)	Single nucleotide variant (missense variant)	Cognitive impairment +12 more	GUncertain significance
Select item 560516	NM_206933.2(USH2A):c.[2299del;4714C>T]	USH2A (E767fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 2A	GPathogenic
Select item 267889	46;XX;inv(14)(q24.1q32.1)dn		Inversion	Cardiac arrhythmia +12 more	GUncertain significance
Select item 8954	NM_000098.3(CPT2):c.149C>A (p.Pro50His)	CPT2, LOC129930561 (P50H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more	GPathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Rare genetic deafness +23 more	GConflicting classifications of pathogenicity

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