KCNJ18[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59297	GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3	CCDC144NL-AS1, DHRS7B +41 more	Copy number gain	See cases	GUncertain significance
Select item 1295652	NM_021012.5(KCNJ12):c.*21A>G	KCNJ12, KCNJ18	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 147858	GRCh38/hg38 17p11.2(chr17:21416753-22176920)x3	KCNJ12, KCNJ18 +4 more	Copy number gain	See cases	GUncertain significance
Select item 153073	GRCh38/hg38 17p11.2(chr17:21530124-22176920)x3	KCNJ18, LINC02693 +2 more	Copy number gain	See cases	GBenign
Select item 3039589	NM_001194958.2(KCNJ18):c.42A>G (p.Ser14=)	KCNJ18	Single nucleotide variant (synonymous variant)	KCNJ18-related disorder	GLikely benign
Select item 1235905	NM_001194958.2(KCNJ18):c.87C>T (p.Asn29=)	KCNJ18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3061031	NM_001194958.2(KCNJ18):c.119G>A (p.Arg40His)	KCNJ18 (R40H)	Single nucleotide variant (missense variant)	KCNJ18-related disorder	GBenign
Select item 2683414	NM_001194958.2(KCNJ18):c.123G>T (p.Arg41Ser)	KCNJ18 (R41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048042	NM_001194958.2(KCNJ18):c.171C>T (p.Phe57=)	KCNJ18	Single nucleotide variant (synonymous variant)	KCNJ18-related disorder	GLikely benign
Select item 1809683	NM_001194958.2(KCNJ18):c.364C>T (p.Pro122Ser)	KCNJ18 (P122S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 2	GUncertain significance
Select item 204	NM_001194958.2(KCNJ18):c.429del (p.Ile144fs)	KCNJ18 (I144fs)	Deletion (frameshift variant)	Thyrotoxic periodic paralysis, susceptibility to, 2	Grisk factor
Select item 206	NM_001194958.2(KCNJ18):c.614G>A (p.Arg205His)	KCNJ18 (R205H)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 2	Grisk factor
Select item 448965	NM_001194958.2(KCNJ18):c.655C>T (p.Arg219Cys)	KCNJ18 (R219C)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 2	GUncertain significance
Select item 205	NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)	KCNJ18 (T354M)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 2	Grisk factor
Select item 207	NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg)	KCNJ18 (K366R)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 2	Grisk factor