Related gene-specific medical variations for Gene (Select 2103) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242369	NM_001379180.1(ESRRB):c.785C>A (p.Thr262Asn)	ESRRB (T241N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35	GUncertain significance
Select item 686192	GRCh37/hg19 14q24.3(chr14:76931560-76977846)x3	ESRRB	Copy number gain	not provided	GUncertain significance
Select item 395374	GRCh37/hg19 14q24.3(chr14:76837541-77007569)x3	ESRRB	Copy number gain	See cases	GLikely benign
Select item 394091	GRCh37/hg19 14q24.3(chr14:76837541-76957445)x3	ESRRB	Copy number gain	See cases	GLikely benign
Select item 259399	NM_001379180.1(ESRRB):c.1032C>T (p.Ala344=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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