ClinVar for MedGen (Select 900413) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290984	NM_144498.4(OSBPL2):c.37+23G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1220939	NM_144498.4(OSBPL2):c.394-17C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174532	NM_144498.4(OSBPL2):c.888_890delinsATG (p.Phe296_Met297delinsLeuTrp)	OSBPL2	Indel (missense variant)	Autosomal dominant nonsyndromic hearing loss 67	GUncertain significance
Select item 1048636	NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser)	OSBPL2 (N179S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 67	GUncertain significance
Select item 987443	NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs)	OSBPL2 (Q41fs +1 more)	Deletion (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67 +1 more	GPathogenic
Select item 977817	NM_144498.4(OSBPL2):c.180_181del (p.His60fs)	OSBPL2 (H48fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67	GPathogenic
Select item 517559	NM_144498.4(OSBPL2):c.1125+15A>G	OSBPL2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 506081	NM_144498.4(OSBPL2):c.1249+4C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 190111	NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs)	OSBPL2 (R50fs +1 more)	Deletion (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67	GPathogenic
Select item 190110	NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs)	OSBPL2 (Q41fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 67	GPathogenic