ClinVar for Gene (Select 3782) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3862975	NM_002249.6(KCNN3):c.270A>T (p.Gln90His)	KCNN3 (Q90H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3862974	NM_002249.6(KCNN3):c.409C>T (p.Leu137Phe)	KCNN3 (L137F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3862973	NM_002249.6(KCNN3):c.68G>A (p.Cys23Tyr)	KCNN3 (C23Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3862972	NM_002249.6(KCNN3):c.2031C>T (p.Ile677=)	KCNN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3862971	NM_002249.6(KCNN3):c.140C>A (p.Pro47Gln)	KCNN3 (P47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3862970	NM_002249.6(KCNN3):c.748G>A (p.Ala250Thr)	KCNN3 (A250T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3862969	NM_002249.6(KCNN3):c.1539G>T (p.Met513Ile)	KCNN3 (M208I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3862968	NM_002249.6(KCNN3):c.700C>T (p.Leu234Phe)	KCNN3 (L234F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3779782	NM_002249.6(KCNN3):c.1449-3921del	KCNN3, LOC126805875 (S178fs +1 more)	Deletion (frameshift variant +1 more)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 3770705	NM_002249.6(KCNN3):c.945T>A (p.Phe315Leu)	KCNN3 (F10L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3768275	NM_002249.6(KCNN3):c.670C>T (p.Arg224Trp)	KCNN3 (R224W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3603254	NM_002249.6(KCNN3):c.1667A>C (p.His556Pro)	KCNN3 (H243P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573516	NM_002249.6(KCNN3):c.1484T>C (p.Leu495Pro)	KCNN3 (L182P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3532628	NM_002249.6(KCNN3):c.2039C>A (p.Thr680Asn)	KCNN3 (T382N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3532627	NM_002249.6(KCNN3):c.692A>T (p.Gln231Leu)	KCNN3 (Q231L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391974	GRCh37/hg19 1q21.3(chr1:153416920-154957232)x3	ADAR, AQP10 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3389896	NM_002249.6(KCNN3):c.681C>T (p.Asn227=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3381255	NM_002249.6(KCNN3):c.1124T>G (p.Ile375Ser)	KCNN3 (I375S +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 3377896	NM_002249.6(KCNN3):c.1313G>C (p.Gly438Ala)	KCNN3 (G125A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377894	NM_002249.6(KCNN3):c.1146C>A (p.Tyr382Ter)	KCNN3 (Y382* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371678	NM_002249.6(KCNN3):c.766C>T (p.Pro256Ser)	KCNN3 (P256S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368974	NM_002249.6(KCNN3):c.335dup (p.Ser113fs)	KCNN3 (S113fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3367864	NM_002249.6(KCNN3):c.1622T>C (p.Val541Ala)	KCNN3 (V228A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367536	NM_002249.6(KCNN3):c.889G>T (p.Val297Phe)	KCNN3 (V297F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367470	NM_002249.6(KCNN3):c.1885G>A (p.Val629Met)	KCNN3 (V316M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365263	NM_002249.6(KCNN3):c.1727T>C (p.Leu576Pro)	KCNN3 (L263P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362408	NM_002249.6(KCNN3):c.1192C>T (p.Arg398Trp)	KCNN3 (R398W +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 3360728	NM_002249.6(KCNN3):c.1189T>G (p.Ser397Ala)	KCNN3 (S397A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360091	NM_002249.6(KCNN3):c.2189G>A (p.Ser730Asn)	KCNN3 (S417N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287721	NM_002249.6(KCNN3):c.1914G>C (p.Met638Ile)	KCNN3 (M333I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287720	NM_002249.6(KCNN3):c.338C>T (p.Ser113Leu)	KCNN3 (S113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287719	NM_002249.6(KCNN3):c.1700G>A (p.Arg567Gln)	KCNN3 (R262Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253302	NM_002249.6(KCNN3):c.1739G>A (p.Trp580Ter)	KCNN3 (W267* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3234369	NM_002249.6(KCNN3):c.1119C>T (p.Cys373=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234017	NM_002249.6(KCNN3):c.1786A>G (p.Lys596Glu)	KCNN3 (K283E +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 3113455	NM_002249.6(KCNN3):c.34G>C (p.Val12Leu)	KCNN3 (V12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113453	NM_002249.6(KCNN3):c.2141T>C (p.Ile714Thr)	KCNN3 (I409T +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 3113452	NM_002249.6(KCNN3):c.2089G>C (p.Gly697Arg)	KCNN3 (G697R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067570	NM_002249.6(KCNN3):c.687C>A (p.Ala229=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3026233	NM_002249.6(KCNN3):c.687C>T (p.Ala229=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025444	NM_002249.6(KCNN3):c.1545C>A (p.Pro515=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025166	NM_002249.6(KCNN3):c.334C>A (p.Pro112Thr)	KCNN3 (P112T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685829	GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3	CKS1B, DCST1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2662433	NM_002249.6(KCNN3):c.460C>T (p.Arg154Trp)	KCNN3 (R154W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639381	NM_002249.6(KCNN3):c.87GCA[9] (p.Gln41_Pro42insGln)	KCNN3	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2639380	NM_002249.6(KCNN3):c.139C>T (p.Pro47Ser)	KCNN3 (P47S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639379	NM_002249.6(KCNN3):c.1076C>G (p.Thr359Ser)	KCNN3 (T359S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639378	NM_002249.6(KCNN3):c.1449-3920T>G	KCNN3, LOC126805875	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2639377	NM_002249.6(KCNN3):c.1729C>T (p.Arg577Trp)	KCNN3 (R264W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639376	NM_002249.6(KCNN3):c.2172G>A (p.Pro724=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637819	NM_002249.6(KCNN3):c.470A>C (p.Gln157Pro)	KCNN3 (Q157P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635791	NM_002249.6(KCNN3):c.1351A>G (p.Met451Val)	KCNN3 (M138V +2 more)	Single nucleotide variant (missense variant)	KCNN3-related disorder	GUncertain significance
Select item 2603249	NM_002249.6(KCNN3):c.173C>T (p.Ser58Leu)	KCNN3 (S58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582863	NM_002249.6(KCNN3):c.1337A>G (p.Asn446Ser)	KCNN3 (N133S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580494	NM_002249.6(KCNN3):c.1371C>G (p.Ile457Met)	KCNN3 (I144M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ENSA, NBPF8 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2578582	NM_002249.6(KCNN3):c.1432G>A (p.Val478Ile)	KCNN3 (V165I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2572455	NM_002249.6(KCNN3):c.1259G>A (p.Arg420Gln)	KCNN3 (R107Q +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 2570734	NM_002249.6(KCNN3):c.2097C>T (p.Ser699=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2520637	NM_002249.6(KCNN3):c.1376C>G (p.Pro459Arg)	KCNN3 (P459R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507316	NM_002249.6(KCNN3):c.1436G>A (p.Arg479His)	KCNN3 (R166H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504434	NM_002249.6(KCNN3):c.1100G>C (p.Ser367Thr)	KCNN3 (S367T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471884	NM_002249.6(KCNN3):c.465C>A (p.His155Gln)	KCNN3 (H155Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2446471	NM_002249.6(KCNN3):c.962G>A (p.Cys321Tyr)	KCNN3 (C16Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433011	NM_002249.6(KCNN3):c.2059C>T (p.Gln687Ter)	KCNN3 (Q374* +4 more)	Single nucleotide variant (nonsense)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 2431680	NM_002249.6(KCNN3):c.682C>T (p.His228Tyr)	KCNN3 (H228Y)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 2386822	NM_002249.6(KCNN3):c.611A>G (p.Glu204Gly)	KCNN3 (E204G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2375171	NM_002249.6(KCNN3):c.1160C>T (p.Thr387Met)	KCNN3 (T82M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362038	NM_002249.6(KCNN3):c.87GCA[10] (p.Gln41_Pro42insGlnGln)	KCNN3	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2339889	NM_002249.6(KCNN3):c.250C>T (p.Pro84Ser)	KCNN3 (P84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336406	NM_002249.6(KCNN3):c.29C>T (p.Ser10Leu)	KCNN3 (S10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330091	NM_002249.6(KCNN3):c.1349T>C (p.Val450Ala)	KCNN3 (V137A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2329384	NM_002249.6(KCNN3):c.334C>T (p.Pro112Ser)	KCNN3 (P112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280728	NM_002249.6(KCNN3):c.1972A>C (p.Ser658Arg)	KCNN3 (S658R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242259	NM_002249.6(KCNN3):c.910C>A (p.Leu304Ile)	KCNN3 (L304I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237048	NM_002249.6(KCNN3):c.953C>T (p.Ala318Val)	KCNN3 (A318V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225124	NM_002249.6(KCNN3):c.1783G>A (p.Ala595Thr)	KCNN3 (A290T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223927	NM_002249.6(KCNN3):c.2146G>T (p.Val716Phe)	KCNN3 (V403F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221172	NM_002249.6(KCNN3):c.671G>A (p.Arg224Gln)	KCNN3 (R224Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2216634	NM_002249.6(KCNN3):c.489C>G (p.His163Gln)	KCNN3 (H163Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804639	NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)	KCNN3 (P217L)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1803409	NM_002249.6(KCNN3):c.1448+2T>C	KCNN3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1723286	NM_002249.6(KCNN3):c.592C>G (p.Leu198Val)	KCNN3 (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708605	NM_002249.6(KCNN3):c.946T>C (p.Ser316Pro)	KCNN3 (S11P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703120	NM_002249.6(KCNN3):c.439A>G (p.Ser147Gly)	KCNN3 (S147G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703064	NM_002249.6(KCNN3):c.601G>A (p.Ala201Thr)	KCNN3 (A201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700915	NM_002249.6(KCNN3):c.1571G>C (p.Cys524Ser)	KCNN3 (C211S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691669	NM_002249.6(KCNN3):c.591C>G (p.Asn197Lys)	KCNN3 (N197K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685505	NM_002249.6(KCNN3):c.200AGC[9] (p.Gln76_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1685501	NM_002249.6(KCNN3):c.200AGC[5] (p.Gln72_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 1685494	NM_002249.6(KCNN3):c.200AGC[24] (p.Gln71_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 1685458	NM_002249.6(KCNN3):c.200AGC[15] (p.Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 1685448	NM_002249.6(KCNN3):c.200AGC[7] (p.Gln74_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1685442	NM_002249.6(KCNN3):c.200AGC[8] (p.Gln75_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1685432	NM_002249.6(KCNN3):c.200AGC[21] (p.Gln74_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 1685424	NM_002249.6(KCNN3):c.200AGC[11] (p.Gln78_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign

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