Related gene-specific medical variations for Gene (Select 10804) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361771	NM_001110219.3(GJB6):c.416G>A (p.Ser139Asn)	GJB6 (S139N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1072828	NC_000013.10:g.(?_20797176)_21105944del	GJB6	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic
Select item 688734	GRCh37/hg19 13q12.11(chr13:20788295-20827928)x1	GJB6	Copy number loss	not provided	GUncertain significance

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