ClinVar for MedGen (Select 1843285) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679197	NM_004999.4(MYO6):c.560del (p.Pro187fs)	MYO6 (P187fs)	Deletion (frameshift variant +2 more)	Autosomal dominant nonsyndromic hearing loss	GPathogenic
Select item 1327912	NM_005982.4(SIX1):c.316G>T (p.Val106Leu)	SIX1 (V106L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss	GLikely pathogenic
Select item 1279938	NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe)	DIABLO (L20F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss 64 +1 more	GUncertain significance
Select item 929431	NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile)	GREB1L, LOC101927521 (T116I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss	GUncertain significance
Select item 917514	NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter)	ATP2B2 (Q345*)	Single nucleotide variant (intron variant +1 more)	Autosomal dominant nonsyndromic hearing loss	GPathogenic
Select item 633603	NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)	PLS1 (F128S)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 433528	NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)	PDE1C (A320S +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 74 +1 more	GPathogenic/Likely pathogenic

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