"Eurofins Ntd Llc (ga)"[submitter] AND "COCH"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595709	NM_004086.3(COCH):c.87C>T (p.Pro29=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 287013	NM_004086.3(COCH):c.153A>C (p.Pro51=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 286749	NM_004086.3(COCH):c.198A>T (p.Val66=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 197227	NM_004086.3(COCH):c.239+5G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500137	NM_004086.3(COCH):c.272G>A (p.Arg91Gln)	COCH, LOC100506071 (R91Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504560	NM_004086.3(COCH):c.373+4G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 284741	NM_004086.3(COCH):c.442C>T (p.Arg148Ter)	COCH, LOC100506071 (R148* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 595298	NM_004086.3(COCH):c.482-4G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 281981	NM_004086.3(COCH):c.629+5C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenignFDA Recognized database
Select item 282143	NM_004086.3(COCH):c.1026C>T (p.Tyr342=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 228523	NM_004086.3(COCH):c.1348A>G (p.Ile450Val)	COCH, LOC100506071 (I450V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 498004	NM_004086.3(COCH):c.1547C>T (p.Pro516Leu)	COCH, LOC100506071 (P516L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance