"GeneDx"[submitter] AND "KCNA6"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 3372528	NM_002235.5(KCNA6):c.49G>A (p.Gly17Arg)	KCNA6 (G17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375911	NM_002235.5(KCNA6):c.406G>T (p.Glu136Ter)	KCNA6 (E136*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3372884	NM_002235.5(KCNA6):c.688G>C (p.Asp230His)	KCNA6 (D230H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363969	NM_002235.5(KCNA6):c.727A>G (p.Met243Val)	KCNA6 (M243V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428979	NM_002235.5(KCNA6):c.781G>C (p.Asp261His)	KCNA6 (D261H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365521	NM_002235.5(KCNA6):c.842G>C (p.Arg281Pro)	KCNA6 (R281P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364450	NM_002235.5(KCNA6):c.848C>T (p.Ser283Phe)	KCNA6 (S283F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370775	NM_002235.5(KCNA6):c.1057T>G (p.Phe353Val)	KCNA6 (F353V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428866	NM_002235.5(KCNA6):c.1126C>G (p.Leu376Val)	KCNA6 (L376V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370851	NM_002235.5(KCNA6):c.1231G>T (p.Asp411Tyr)	KCNA6 (D411Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365490	NM_002235.5(KCNA6):c.1261A>G (p.Thr421Ala)	KCNA6 (T421A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370026	NM_002235.5(KCNA6):c.1310T>C (p.Ile437Thr)	KCNA6 (I437T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582073	NM_002235.5(KCNA6):c.1372G>C (p.Val458Leu)	KCNA6 (V458L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252827	NM_002235.5(KCNA6):c.1420C>G (p.Gln474Glu)	KCNA6 (Q474E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 58207	GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3	ANO2, KCNA1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 253862	GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3	GALNT8, KCNA6 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic