Related gene-specific medical variations for Gene (Select 27133) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063336	GRCh37/hg19 14q23.2(chr14:62715828-63487534)x1	KCNH5	Copy number loss	not specified	GUncertain significance
Select item 2689287	NM_139318.5(KCNH5):c.478C>T (p.Arg160Ter)	KCNH5 (R160*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 112	GUncertain significance
Select item 1340581	GRCh37/hg19 14q23.2(chr14:63122010-63230883)x1	KCNH5	Copy number loss	not provided	GUncertain significance
Select item 688774	GRCh37/hg19 14q23.2(chr14:63408187-63435283)x1	KCNH5	Copy number loss	not provided	GUncertain significance

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