Related gene-specific medical variations for Gene (Select 90134) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113270	NM_033272.4(KCNH7):c.3577C>A (p.Leu1193Ile)	GCA, KCNH7 (L1193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113269	NM_033272.4(KCNH7):c.3487G>A (p.Val1163Ile)	GCA, KCNH7 (V1163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113268	NM_033272.4(KCNH7):c.3278C>T (p.Pro1093Leu)	GCA, KCNH7 (P1093L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113267	NM_033272.4(KCNH7):c.3250A>G (p.Ile1084Val)	GCA, KCNH7 (I1084V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495365	NM_033272.4(KCNH7):c.3374C>T (p.Ser1125Phe)	GCA, KCNH7 (S1125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980602	GRCh37/hg19 2q24.2-24.3(chr2:163418327-163811396)x3	KCNH7	Copy number gain	not provided	GUncertain significance

ClinVar