"GeneDx"[submitter] AND "KCNJ2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60172	GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3	KCNJ16, KCNJ2 +7 more	Copy number gain	See cases	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 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)	Andersen Tawil syndrome +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 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)	Short QT syndrome type 3 +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 1261658	NM_000891.3(KCNJ2):c.-143C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 324829	NM_000891.3(KCNJ2):c.-2C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
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 1698177	NM_000891.3(KCNJ2):c.17C>T (p.Thr6Ile)	KCNJ2 (T6I)	Single nucleotide variant (missense variant)	not provided	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 378004	NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)	KCNJ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 509930	NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)	KCNJ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 412685	NM_000891.3(KCNJ2):c.96C>T (p.Asn32=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +3 more	GBenign/Likely benign
Select item 1522998	NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)	KCNJ2 (K34N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 324830	NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)	KCNJ2 (R40Q)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +5 more	GConflicting classifications of pathogenicity
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)	not specified +4 more	GLikely benign
Select item 1307723	NM_000891.3(KCNJ2):c.166G>A (p.Val56Ile)	KCNJ2 (V56I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285530	NM_000891.3(KCNJ2):c.168T>C (p.Val56=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2662019	NM_000891.3(KCNJ2):c.169C>T (p.Gln57Ter)	KCNJ2 (Q57*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 137983	NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +4 more	GBenign/Likely benign
Select item 8923	NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	KCNJ2	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic
Select item 67560	NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	KCNJ2 (R67Q)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GPathogenic/Likely pathogenic
Select item 403977	NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)	KCNJ2 (A70S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 190807	NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr)	KCNJ2 (A70T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 67562	NM_000891.3(KCNJ2):c.211G>A (p.Asp71Asn)	KCNJ2 (D71N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 263553	NM_000891.3(KCNJ2):c.213C>T (p.Asp71=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 512939	NM_000891.3(KCNJ2):c.222C>T (p.Thr74=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 67565	NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)	KCNJ2 (T75M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 190808	NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)	KCNJ2 (C76G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 190809	NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr)	KCNJ2 (I79T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 67568	NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	KCNJ2 (R82W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 67569	NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	KCNJ2 (R82Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 1809974	NM_000891.3(KCNJ2):c.256G>A (p.Val86Ile)	KCNJ2 (V86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190810	NM_000891.3(KCNJ2):c.256G>T (p.Val86Phe)	KCNJ2 (V86F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451647	NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)	KCNJ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1301226	NM_000891.3(KCNJ2):c.267C>T (p.Cys89=)	KCNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 412686	NM_000891.3(KCNJ2):c.276C>T (p.Phe92=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 30121	NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)	KCNJ2 (V93I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1702825	NM_000891.3(KCNJ2):c.278T>C (p.Val93Ala)	KCNJ2 (V93A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363313	NM_000891.3(KCNJ2):c.286T>C (p.Trp96Arg)	KCNJ2 (W96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449152	NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)	KCNJ2 (C101F)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +3 more	GUncertain significance
Select item 705806	NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)	KCNJ2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 468465	NM_000891.3(KCNJ2):c.327C>T (p.Leu109=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 190811	NM_000891.3(KCNJ2):c.328C>T (p.His110Tyr)	KCNJ2 (H110Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302594	NM_000891.3(KCNJ2):c.346T>C (p.Ser116Pro)	KCNJ2 (S116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432434	NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)	KCNJ2 (K120T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 137984	NM_000891.3(KCNJ2):c.372C>T (p.Ser124=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 969996	NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met)	KCNJ2 (T130M)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +3 more	GUncertain significance
Select item 190822	NM_000891.3(KCNJ2):c.394_396dup (p.Ala132dup)	KCNJ2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1136946	NM_000891.3(KCNJ2):c.411T>C (p.Ile137=)	KCNJ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 403973	NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile)	KCNJ2 (T139I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 67574	NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)	KCNJ2 (G144D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1327728	NM_000891.3(KCNJ2):c.436G>C (p.Gly146Arg)	KCNJ2 (G146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964778	NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)	KCNJ2 (I171V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 382505	NM_000891.3(KCNJ2):c.513C>T (p.Ile171=)	KCNJ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 451172	NM_000891.3(KCNJ2):c.529G>A (p.Gly177Ser)	KCNJ2 (G177S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429589	NM_000891.3(KCNJ2):c.565A>G (p.Arg189Gly)	KCNJ2 (R189G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 190812	NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)	KCNJ2 (R189K)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 67580	NM_000891.3(KCNJ2):c.566G>T (p.Arg189Ile)	KCNJ2 (R189I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 932125	NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)	KCNJ2 (L193P)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1706136	NM_000891.3(KCNJ2):c.608T>C (p.Met203Thr)	KCNJ2 (M203T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1146781	NM_000891.3(KCNJ2):c.615C>T (p.Asp205=)	KCNJ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1344911	NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)	KCNJ2 (R213*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 8919	NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	KCNJ2	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 430545	NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)	KCNJ2 (R218P)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 190813	NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)	KCNJ2 (R218L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GConflicting classifications of pathogenicity
Select item 67585	NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	KCNJ2 (R218Q)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +4 more	GPathogenic
Select item 1004911	NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn)	KCNJ2 (S220N)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 36434	NM_000891.3(KCNJ2):c.660C>T (p.Ser220=)	KCNJ2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 546134	NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)	KCNJ2 (L222S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 703076	NM_000891.3(KCNJ2):c.678T>C (p.His226=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +3 more	GBenign/Likely benign
Select item 506604	NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +2 more	GLikely benign
Select item 453204	NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)	KCNJ2 (N251S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 137985	NM_000891.3(KCNJ2):c.773T>C (p.Ile258Thr)	KCNJ2 (I258T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 391532	NM_000891.3(KCNJ2):c.774C>T (p.Ile258=)	KCNJ2	Single nucleotide variant (synonymous variant)	Andersen Tawil syndrome +2 more	GLikely benign
Select item 1306566	NM_000891.3(KCNJ2):c.778C>T (p.Arg260Cys)	KCNJ2 (R260C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 67587	NM_000891.3(KCNJ2):c.779G>C (p.Arg260Pro)	KCNJ2 (R260P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 691668	NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)	KCNJ2 (I261V)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +3 more	GUncertain significance
Select item 190814	NM_000891.3(KCNJ2):c.821A>T (p.Asp274Val)	KCNJ2 (D274V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503654	NM_000891.3(KCNJ2):c.853C>T (p.Gln285Ter)	KCNJ2 (Q285*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 389292	NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)	KCNJ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 378005	NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)	KCNJ2	Single nucleotide variant (synonymous variant)	Short QT syndrome type 3 +4 more	GConflicting classifications of pathogenicity
Select item 191474	NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala)	KCNJ2 (V295A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1704086	NM_000891.3(KCNJ2):c.887T>C (p.Val296Ala)	KCNJ2 (V296A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190815	NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val)	KCNJ2 (E299V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8920	NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)	KCNJ2 (G300V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 378921	NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)	KCNJ2 (M301L)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GConflicting classifications of pathogenicity

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