"GeneDx"[submitter] AND "KCNJ8"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283823	NM_004982.4(KCNJ8):c.*255T>A	KCNJ8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 515597	NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 157543	NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)	KCNJ8 (S422L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 449327	NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)	KCNJ8 (V346I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 137998	NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)	KCNJ8 (V334A)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GBenign/Likely benign
Select item 507454	NM_004982.4(KCNJ8):c.897G>A (p.Val299=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 221023	NM_004982.4(KCNJ8):c.855G>A (p.Leu285=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 221022	NM_004982.4(KCNJ8):c.793T>C (p.Leu265=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 378009	NM_004982.4(KCNJ8):c.507C>T (p.Ile169=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 511968	NM_004982.4(KCNJ8):c.471G>A (p.Thr157=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 264182	NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)	KCNJ8	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 381495	NM_004982.4(KCNJ8):c.465C>T (p.Ala155=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1318347	NM_004982.4(KCNJ8):c.375-168C>G	KCNJ8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137997	NM_004982.4(KCNJ8):c.291C>G (p.Ala97=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +3 more	GBenign
Select item 190832	NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly)	KCNJ8 (A88G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 511645	NM_004982.4(KCNJ8):c.189C>T (p.Thr63=)	KCNJ8	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 388964	NM_004982.4(KCNJ8):c.138G>T (p.Ala46=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 532159	NM_004982.4(KCNJ8):c.111C>T (p.Ile37=)	KCNJ8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 385543	NM_004982.4(KCNJ8):c.54C>T (p.Ala18=)	KCNJ8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 190830	NM_004982.4(KCNJ8):c.-40G>A	KCNJ8	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 137996	NM_004982.4(KCNJ8):c.-66A>T	KCNJ8	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1316793	NM_004982.4(KCNJ8):c.-70-11C>T	KCNJ8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273151	NM_004982.4(KCNJ8):c.-70-247_-70-244del	KCNJ8	Deletion (intron variant)	not provided	GBenign
Select item 1223928	NM_004982.4(KCNJ8):c.-71+196dup	KCNJ8	Duplication (intron variant)	not provided	GBenign
Select item 1318307	NM_004982.4(KCNJ8):c.-71+215del	KCNJ8	Deletion (intron variant)	not provided	GLikely benign
Select item 1260924	NM_004982.4(KCNJ8):c.-71+214_-71+215del	KCNJ8	Deletion (intron variant)	not provided	GBenign
Select item 1317961	NM_004982.4(KCNJ8):c.-71+166dup	KCNJ8	Duplication (intron variant)	not provided	GLikely benign
Select item 190831	NM_004982.4(KCNJ8):c.-77G>A	KCNJ8	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 508217	NM_004982.4(KCNJ8):c.-88_-87delinsTT	KCNJ8	Indel (5 prime UTR variant)	not specified	GLikely benign
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

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Items: 31