3759[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	LOC129390924, LOC129390925 +59 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +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
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 152589	GRCh38/hg38 17q24.3(chr17:70089117-71111424)x3	CASC17, KCNJ16 +12 more	Copy number gain	See cases	GLikely benign
Select item 60172	GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3	KCNJ16, KCNJ2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1342469	NC_000017.11:g.70166313_70176696dup	LOC130061539, KCNJ2 +1 more	Duplication	not provided	GUncertain significance
Select item 1276910	NC_000017.11:g.70169388G>A	KCNJ2, KCNJ2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 889397	NM_000891.3(KCNJ2):c.-361G>C	KCNJ2, LOC130061539	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324822	NM_000891.3(KCNJ2):c.-349C>A	KCNJ2, LOC130061539	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 889398	NM_000891.3(KCNJ2):c.-348G>A	KCNJ2, LOC130061539	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324823	NM_000891.3(KCNJ2):c.-314T>C	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GConflicting classifications of pathogenicity
Select item 324824	NM_000891.3(KCNJ2):c.-258C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GUncertain significance
Select item 517924	NM_000891.3(KCNJ2):c.-235G>A	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 324825	NM_000891.3(KCNJ2):c.-228C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 392838	NM_000891.3(KCNJ2):c.-217+11C>T	KCNJ2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1229696	NM_000891.3(KCNJ2):c.-217+39C>T	KCNJ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 946743	NM_000891.3(KCNJ2):c.-217+1029_422del	KCNJ2	Deletion (splice acceptor variant +1 more)	Short QT syndrome type 3 +1 more	GPathogenic
Select item 1219726	NM_000891.3(KCNJ2):c.-216-169G>C	KCNJ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268619	NM_000891.3(KCNJ2):c.-216-109A>G	KCNJ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202336	NM_000891.3(KCNJ2):c.-216-7C>A	KCNJ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509425	NM_000891.3(KCNJ2):c.-210T>C	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 324826	NM_000891.3(KCNJ2):c.-195C>G	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GConflicting classifications of pathogenicity
Select item 1273919	NM_000891.3(KCNJ2):c.-163_-162insTC	KCNJ2	Insertion (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1280715	NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT	KCNJ2	Insertion (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1228266	NM_000891.3(KCNJ2):c.-162A>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 324827	NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT	KCNJ2	Indel (5 prime UTR variant)	Familial atrial fibrillation +2 more	GUncertain significance
Select item 1261658	NM_000891.3(KCNJ2):c.-143C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 324828	NM_000891.3(KCNJ2):c.-88C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Familial atrial fibrillation +2 more	GUncertain significance
Select item 1231447	NM_000891.3(KCNJ2):c.-60G>A	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1291249	NM_000891.3(KCNJ2):c.-14C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3232300	NM_000891.3(KCNJ2):c.-3G>A	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 324829	NM_000891.3(KCNJ2):c.-2C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +4 more	GBenign/Likely benign
Select item 1784213	NM_000891.3(KCNJ2):c.-1G>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1784208	NM_000891.3(KCNJ2):c.-1G>A	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 190805	NM_000891.3(KCNJ2):c.2T>C (p.Met1Thr)	KCNJ2 (M1T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2928993	NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)	KCNJ2 (G2R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1060281	NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup)	KCNJ2	Insertion (inframe_insertion)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2602434	NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2577327	NM_000891.3(KCNJ2):c.8G>C (p.Ser3Thr)	KCNJ2 (S3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760477	NM_000891.3(KCNJ2):c.9T>C (p.Ser3=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 1880634	NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)	KCNJ2 (R5G)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1064345	NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)	KCNJ2 (R5*)	Single nucleotide variant (nonsense)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 1052929	NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln)	KCNJ2 (R5Q)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 3232299	NM_000891.3(KCNJ2):c.16A>T (p.Thr6Ser)	KCNJ2 (T6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1698177	NM_000891.3(KCNJ2):c.17C>T (p.Thr6Ile)	KCNJ2 (T6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591495	NM_000891.3(KCNJ2):c.18C>A (p.Thr6=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2566712	NM_000891.3(KCNJ2):c.21C>G (p.Asn7Lys)	KCNJ2 (N7K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 890665	NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)	KCNJ2 (R8C)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +3 more	GUncertain significance
Select item 844830	NM_000891.3(KCNJ2):c.23G>A (p.Arg8His)	KCNJ2 (R8H)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 536361	NM_000891.3(KCNJ2):c.24C>T (p.Arg8=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2052697	NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)	KCNJ2 (I11V)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance
Select item 506474	NM_000891.3(KCNJ2):c.33C>T (p.Ile11=)	KCNJ2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1547170	NM_000891.3(KCNJ2):c.42A>G (p.Ser14=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1742546	NM_000891.3(KCNJ2):c.46G>C (p.Glu16Gln)	KCNJ2 (E16Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1096305	NM_000891.3(KCNJ2):c.48A>G (p.Glu16=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 487624	NM_000891.3(KCNJ2):c.49G>A (p.Asp17Asn)	KCNJ2 (D17N)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 378004	NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +3 more	GLikely benign
Select item 2932834	NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)	KCNJ2 (G18R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 536360	NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser)	KCNJ2 (G18S)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 509930	NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2149616	NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)	KCNJ2 (M24V)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1080589	NM_000891.3(KCNJ2):c.75A>C (p.Ala25=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1108001	NM_000891.3(KCNJ2):c.81A>C (p.Ala27=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 977182	NM_000891.3(KCNJ2):c.83A>G (p.Asn28Ser)	KCNJ2 (N28S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1129579	NM_000891.3(KCNJ2):c.87C>A (p.Gly29=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 764423	NM_000891.3(KCNJ2):c.87C>T (p.Gly29=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +2 more	GLikely benign
Select item 2934270	NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)	KCNJ2 (F30S)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2934118	NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 2929738	NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)	KCNJ2 (N32K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 412685	NM_000891.3(KCNJ2):c.96C>T (p.Asn32=)	KCNJ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1409457	NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg)	KCNJ2 (G33R)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 1163708	NM_000891.3(KCNJ2):c.97G>A (p.Gly33Arg)	KCNJ2 (G33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627275	NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +1 more	GLikely benign
Select item 661299	NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg)	KCNJ2 (K34R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1522998	NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)	KCNJ2 (K34N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1110608	NM_000891.3(KCNJ2):c.102G>A (p.Lys34=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 979139	NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn)	KCNJ2 (K34N)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome	GUncertain significance
Select item 2120833	NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)	KCNJ2 (K36E)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 3232298	NM_000891.3(KCNJ2):c.109G>A (p.Val37Ile)	KCNJ2 (V37I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733620	NM_000891.3(KCNJ2):c.114C>T (p.His38=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190806	NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)	KCNJ2 (R40*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2098462	NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)	KCNJ2 (R40L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 403976	NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro)	KCNJ2 (R40P)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 324830	NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)	KCNJ2 (R40Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 9 +5 more	GConflicting classifications of pathogenicity
Select item 1572837	NM_000891.3(KCNJ2):c.126G>A (p.Gln42=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +1 more	GLikely benign
Select item 1054264	NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)	KCNJ2 (C43Y)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1403486	NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys)	KCNJ2 (R44K)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 705489	NM_000891.3(KCNJ2):c.132G>A (p.Arg44=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +2 more	GLikely benign
Select item 2452376	NM_000891.3(KCNJ2):c.135C>T (p.Ser45=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1436343	NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys)	KCNJ2 (R46C)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1388498	NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly)	KCNJ2 (R46G)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 2442607	NM_000891.3(KCNJ2):c.137G>A (p.Arg46His)	KCNJ2 (R46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668945	NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +4 more	GLikely benign
Select item 2944046	NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)	KCNJ2 (V48M)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1423577	NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)	KCNJ2 (K50R)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 523694	NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val)	KCNJ2 (G52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 640748	NM_000891.3(KCNJ2):c.158A>G (p.His53Arg)	KCNJ2 (H53R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GUncertain significance
Select item 1351074	NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly)	KCNJ2 (C54G)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +1 more	GUncertain significance

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