ClinVar for MedGen (Select 65923) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339911	NM_004086.3(COCH):c.1046_1049del (p.Lys349fs)	COCH, LOC100506071 (K349fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hereditary hearing loss and deafness	GPathogenic
Select item 988885	NM_003059.3(SLC22A4):c.338G>A (p.Cys113Tyr)	SLC22A4 (C113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812588	NM_000219.6(KCNE1):c.94dup (p.Arg32fs)	KCNE1 (R32fs)	Duplication (frameshift variant)	Long QT syndrome +1 more	GPathogenic
Select item 812587	NM_000091.5(COL4A3):c.387+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Hereditary hearing loss and deafness	GPathogenic
Select item 632608	NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)	PLS1 (E269K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 76 +1 more	GConflicting classifications of pathogenicity
Select item 446295	NM_005850.5(SF3B4):c.827del (p.Pro276fs)	SF3B4 (P276fs)	Deletion (frameshift variant)	Hereditary hearing loss and deafness +1 more	GPathogenic
Select item 6610	NM_004086.3(COCH):c.349T>C (p.Trp117Arg)	COCH, LOC100506071 (W117R +1 more)	Single nucleotide variant (missense variant)	Hereditary hearing loss and deafness	GPathogenic

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