ClinVar for Gene (Select 3773) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068383	NM_170741.4(KCNJ16):c.397G>T (p.Gly133Ter)	KCNJ16 (G133*)	Single nucleotide variant (nonsense)	Hypokalemic tubulopathy and deafness	GLikely pathogenic
Select item 3068382	NM_170741.4(KCNJ16):c.12C>G (p.Tyr4Ter)	KCNJ16 (Y4*)	Single nucleotide variant (nonsense)	Hypokalemic tubulopathy and deafness	GLikely pathogenic
Select item 2636067	NM_170741.4(KCNJ16):c.467T>G (p.Leu156Ter)	KCNJ16 (L156*)	Single nucleotide variant (nonsense)	KCNJ16-related condition	GLikely pathogenic
Select item 2633613	NM_170741.4(KCNJ16):c.397_399dup (p.Gly133_Tyr134insGly)	KCNJ16	Duplication (inframe_insertion)	KCNJ16-related condition	GLikely pathogenic
Select item 2571001	NM_170741.4(KCNJ16):c.409C>G (p.Arg137Gly)	KCNJ16 (R137G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1808881	GRCh37/hg19 17q24.3(chr17:67730594-68272354)x3	KCNJ16, KCNJ2	Copy number gain	not provided	GUncertain significance
Select item 1706680	NM_170741.4(KCNJ16):c.-190-164A>G	KCNJ16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327751	NM_170741.4(KCNJ16):c.-94+218_-94+219insA	KCNJ16	Insertion (intron variant)	not provided	GBenign
Select item 1317397	NM_170741.4(KCNJ16):c.-94+219C>A	KCNJ16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293328	NM_170741.4(KCNJ16):c.-190-229A>G	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291191	NM_170741.4(KCNJ16):c.*150del	KCNJ16	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1291190	NM_170741.4(KCNJ16):c.-94+74T>A	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289569	NC_000017.11:g.70075206C>T	KCNJ16	Single nucleotide variant	not provided	GBenign
Select item 1275437	NM_170741.4(KCNJ16):c.-94+234dup	KCNJ16	Duplication (intron variant)	not provided	GBenign
Select item 1274410	NM_170741.4(KCNJ16):c.-191+7669G>A	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270035	NM_170741.4(KCNJ16):c.-299-141T>C	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266075	NM_170741.4(KCNJ16):c.31A>G (p.Ile11Val)	KCNJ16 (I11V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1234459	NM_170741.4(KCNJ16):c.672A>C (p.Thr224=)	KCNJ16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1228894	NM_170741.4(KCNJ16):c.-191+7733A>C	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224739	NM_170741.4(KCNJ16):c.-94+234del	KCNJ16	Deletion (intron variant)	not provided	GBenign
Select item 1175594	NM_170741.4(KCNJ16):c.-94+77C>T	KCNJ16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174521	NM_170741.4(KCNJ16):c.191C>T (p.Thr64Ile)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174520	NM_170741.4(KCNJ16):c.404G>C (p.Gly135Ala)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174519	NM_170741.4(KCNJ16):c.749C>T (p.Pro250Leu)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174518	NM_170741.4(KCNJ16):c.395T>G (p.Ile132Arg)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174517	NM_170741.4(KCNJ16):c.526C>T (p.Arg176Ter)	KCNJ16	Single nucleotide variant (nonsense)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174516	NM_170741.4(KCNJ16):c.409C>T (p.Arg137Cys)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 815949	GRCh37/hg19 17q24.3(chr17:68056381-68268736)x1	KCNJ16, KCNJ2	Copy number loss	not provided	GLikely pathogenic
Select item 789845	NM_170741.4(KCNJ16):c.1233A>G (p.Arg411=)	KCNJ16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564467	GRCh37/hg19 17q24.3(chr17:67671686-70691445)x3	KCNJ16, KCNJ2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 517056	NM_170741.4(KCNJ16):c.-191+1=	KCNJ16	Single nucleotide variant (splice donor variant)	not specified	GBenign
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA8, PSMD12 +18 more	Copy number gain	See cases	GUncertain significance
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	ABCA10, ABCA5 +59 more	Copy number loss	See cases	GPathogenic
Select item 152589	GRCh38/hg38 17q24.3(chr17:70089117-71111424)x3	CASC17, KCNJ16 +12 more	Copy number gain	See cases	GLikely benign
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 60172	GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3	KCNJ16, KCNJ2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57404	GRCh38/hg38 17q24.3(chr17:69766783-71154921)x1	CASC17, KCNJ16 +18 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 47