"Ambry Genetics"[submitter] AND "KCNJ6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2531632	NM_002240.5(KCNJ6):c.1243G>A (p.Ala415Thr)	KCNJ6, KCNJ6-AS1 (A415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217791	NM_002240.5(KCNJ6):c.1177G>T (p.Ala393Ser)	KCNJ6, KCNJ6-AS1 (A393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603784	NM_002240.5(KCNJ6):c.1153G>T (p.Val385Leu)	KCNJ6, KCNJ6-AS1 (V385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229119	NM_002240.5(KCNJ6):c.1132G>A (p.Glu378Lys)	KCNJ6, KCNJ6-AS1 (E378K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255815	NM_002240.5(KCNJ6):c.738G>C (p.Gln246His)	KCNJ6, KCNJ6-AS1 (Q246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287654	NM_002240.5(KCNJ6):c.386G>C (p.Trp129Ser)	KCNJ6, KCNJ6-AS1 (W129S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177232	NM_002240.5(KCNJ6):c.372A>G (p.Ile124Met)	KCNJ6, KCNJ6-AS1 (I124M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255852	NM_002240.5(KCNJ6):c.356G>T (p.Gly119Val)	KCNJ6, KCNJ6-AS1 (G119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3113343	NM_002240.5(KCNJ6):c.158T>C (p.Ile53Thr)	KCNJ6, KCNJ6-AS1 (I53T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1080222	NM_002240.5(KCNJ6):c.157A>G (p.Ile53Val)	KCNJ6, KCNJ6-AS1 (I53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3287655	NM_002240.5(KCNJ6):c.103C>A (p.Gln35Lys)	KCNJ6, KCNJ6-AS1 (Q35K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2168488	NM_002240.5(KCNJ6):c.73G>T (p.Val25Leu)	KCNJ6, KCNJ6-AS1 (V25L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2478204	NM_002240.5(KCNJ6):c.52G>A (p.Asp18Asn)	KCNJ6, KCNJ6-AS1 (D18N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance