KCNJ1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 303553	NM_153766.3(KCNJ1):c.*1045C>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome +1 more	GBenign
Select item 303554	NM_153766.3(KCNJ1):c.*1011C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 879566	NM_153766.3(KCNJ1):c.*968T>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303555	NM_153766.3(KCNJ1):c.*964A>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 879567	NM_153766.3(KCNJ1):c.*864G>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 879568	NM_153766.3(KCNJ1):c.*801C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 879569	NM_153766.3(KCNJ1):c.*737T>C	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303556	NM_153766.3(KCNJ1):c.*676A>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303557	NM_153766.3(KCNJ1):c.*669A>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GLikely benign
Select item 303558	NM_153766.3(KCNJ1):c.*597C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome +1 more	GUncertain significance
Select item 303559	NM_153766.3(KCNJ1):c.*553C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303560	NM_153766.3(KCNJ1):c.*507C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GLikely benign
Select item 303561	NM_153766.3(KCNJ1):c.499_501dup	KCNJ1	Duplication (3 prime UTR variant)	Antenatal Bartter syndrome	GBenign
Select item 303562	NM_153766.3(KCNJ1):c.*452G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303563	NM_153766.3(KCNJ1):c.*382G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303564	NM_153766.3(KCNJ1):c.*348C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GBenign
Select item 303565	NM_153766.3(KCNJ1):c.*141G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GUncertain significance
Select item 1691192	NM_153766.3(KCNJ1):c.*96del	KCNJ1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 303566	NM_153766.3(KCNJ1):c.*88G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GLikely benign
Select item 877123	NM_153766.3(KCNJ1):c.*83G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303567	NM_153766.3(KCNJ1):c.*73A>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome +1 more	GBenign
Select item 303568	NM_153766.3(KCNJ1):c.*16G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2 +1 more	GLikely benign
Select item 64387	NM_153766.3(KCNJ1):c.*5G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1809678	NM_153766.3(KCNJ1):c.*1C>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 935618	NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile)	KCNJ1 (M389I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2891442	NM_153766.3(KCNJ1):c.1101A>G (p.Thr367=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161825	NM_153766.3(KCNJ1):c.1094A>T (p.Asn365Ile)	KCNJ1 (N365I +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 965937	NM_153766.3(KCNJ1):c.1077C>A (p.Phe359Leu)	KCNJ1 (F359L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954822	NM_153766.3(KCNJ1):c.1074C>T (p.Asn358=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174683	NM_153766.3(KCNJ1):c.1045A>G (p.Arg349Gly)	KCNJ1 (R368G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 235615	NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly)	KCNJ1 (D345G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 64389	NM_153766.3(KCNJ1):c.1028A>C (p.Glu343Ala)	KCNJ1 (E343A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64388	NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys)	KCNJ1 (E343K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450954	NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg)	KCNJ1 (L359R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +2 more	GUncertain significance
Select item 2486765	NM_153766.3(KCNJ1):c.1016G>A (p.Cys339Tyr)	KCNJ1 (C356Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9158	NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)	KCNJ1 (M338T +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +2 more	GBenign/Likely benign
Select item 2794645	NM_153766.3(KCNJ1):c.1010C>A (p.Ala337Asp)	KCNJ1 (A337D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586075	NM_153766.3(KCNJ1):c.1001dup (p.His335fs)	KCNJ1 (H335fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1341767	NM_153766.3(KCNJ1):c.1001del (p.Pro334fs)	KCNJ1 (P334fs +2 more)	Deletion (frameshift variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 591088	NM_153766.3(KCNJ1):c.1000C>T (p.Pro334Ser)	KCNJ1 (P334S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903274	NM_153766.3(KCNJ1):c.999C>A (p.Thr333=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997211	NM_153766.3(KCNJ1):c.996G>A (p.Glu332=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827700	NM_153766.3(KCNJ1):c.978C>T (p.Ser326=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978609	NM_153766.3(KCNJ1):c.975T>C (p.Phe325=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077566	NM_153766.3(KCNJ1):c.973T>G (p.Phe325Val)	KCNJ1 (F342V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794031	NM_153766.3(KCNJ1):c.972C>T (p.Asn324=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967984	NM_153766.3(KCNJ1):c.966C>T (p.Phe322=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523794	NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter)	KCNJ1 (R319* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 757735	NM_153766.3(KCNJ1):c.954C>T (p.Tyr318=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878155	NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg)	KCNJ1 (G333R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 872042	NM_153766.3(KCNJ1):c.939_942del (p.Glu315fs)	KCNJ1 (E332fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 303569	NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu)	KCNJ1 (P308L +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 1723052	NM_153766.3(KCNJ1):c.920C>A (p.Ala307Asp)	KCNJ1 (A307D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875630	NM_153766.3(KCNJ1):c.918del (p.Phe306fs)	KCNJ1 (F323fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3113311	NM_153766.3(KCNJ1):c.913C>T (p.Arg305Cys)	KCNJ1 (R305C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271202	NM_153766.3(KCNJ1):c.913C>A (p.Arg305Ser)	KCNJ1 (R305S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2697319	NM_153766.3(KCNJ1):c.906G>A (p.Trp302Ter)	KCNJ1 (W302* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3344448	NM_153766.3(KCNJ1):c.905G>A (p.Trp302Ter)	KCNJ1 (W302* +2 more)	Single nucleotide variant (nonsense)	KCNJ1-related disorder	GLikely pathogenic
Select item 2834770	NM_153766.3(KCNJ1):c.903T>G (p.Leu301=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555522	NM_153766.3(KCNJ1):c.903T>C (p.Leu301=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037358	NM_153766.3(KCNJ1):c.902T>C (p.Leu301Pro)	KCNJ1 (L320P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3287637	NM_153766.3(KCNJ1):c.901C>A (p.Leu301Ile)	KCNJ1 (L301I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068341	NM_153766.3(KCNJ1):c.899_900del (p.Val300fs)	KCNJ1 (V300fs +2 more)	Deletion (frameshift variant)	Bartter disease type 2	GLikely pathogenic
Select item 1683231	NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)	KCNJ1 (V296G +2 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic
Select item 2862511	NM_153766.3(KCNJ1):c.885T>C (p.Tyr295=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735785	NM_153766.3(KCNJ1):c.884A>G (p.Tyr295Cys)	KCNJ1 (Y312C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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