3782[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 2639376	NM_002249.6(KCNN3):c.2172G>A (p.Pro724=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3113453	NM_002249.6(KCNN3):c.2141T>C (p.Ile714Thr)	KCNN3 (I409T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315335	NM_002249.6(KCNN3):c.2107G>T (p.Gly703Cys)	KCNN3 (G390C +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 1098591	NM_002249.6(KCNN3):c.2080G>A (p.Glu694Lys)	KCNN3 (E381K +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	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 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 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 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 3253302	NM_002249.6(KCNN3):c.1739G>A (p.Trp580Ter)	KCNN3 (W267* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1679705	NM_002249.6(KCNN3):c.1701+3059C>T	KCNN3	Single nucleotide variant (intron variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1331578	NM_002249.6(KCNN3):c.1652C>T (p.Ala551Val)	KCNN3 (A238V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064423	NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr)	KCNN3 (A223T +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
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 3025444	NM_002249.6(KCNN3):c.1545C>A (p.Pro515=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1803409	NM_002249.6(KCNN3):c.1448+2T>C	KCNN3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 161592	NM_002249.6(KCNN3):c.1448+1G>T	KCNN3	Single nucleotide variant (splice donor variant)	Malignant tumor of prostate	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 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 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 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 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 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 1029428	NM_002249.6(KCNN3):c.1343G>A (p.Arg448His)	KCNN3 (R135H +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
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 804200	NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys)	KCNN3 (S436C +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
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 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 1675377	NM_002249.6(KCNN3):c.1141G>C (p.Glu381Gln)	KCNN3 (E381Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234369	NM_002249.6(KCNN3):c.1119C>T (p.Cys373=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 403001	NM_002249.6(KCNN3):c.1092G>C (p.Leu364=)	KCNN3	Single nucleotide variant (synonymous variant)	Zimmermann-laband syndrome 3 +1 more	GBenign
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 804202	NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp)	KCNN3 (G350D +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
Select item 403002	NM_002249.6(KCNN3):c.1047T>C (p.Asn349=)	KCNN3	Single nucleotide variant (synonymous variant)	Zimmermann-laband syndrome 3 +1 more	GBenign
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 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 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 2242259	NM_002249.6(KCNN3):c.910C>A (p.Leu304Ile)	KCNN3 (L304I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804201	NM_002249.6(KCNN3):c.805A>G (p.Lys269Glu)	KCNN3 (K269E)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
Select item 3067570	NM_002249.6(KCNN3):c.687C>A (p.Ala229=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026233	NM_002249.6(KCNN3):c.687C>T (p.Ala229=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2221172	NM_002249.6(KCNN3):c.671G>A (p.Arg224Gln)	KCNN3 (R224Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2386822	NM_002249.6(KCNN3):c.611A>G (p.Glu204Gly)	KCNN3 (E204G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1723286	NM_002249.6(KCNN3):c.592C>G (p.Leu198Val)	KCNN3 (L198V)	Single nucleotide variant (missense variant)	not specified	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 1333820	NM_002249.6(KCNN3):c.504C>A (p.Asn168Lys)	KCNN3 (N168K)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	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 2637819	NM_002249.6(KCNN3):c.470A>C (p.Gln157Pro)	KCNN3 (Q157P)	Single nucleotide variant (missense variant)	not specified	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 2662433	NM_002249.6(KCNN3):c.460C>T (p.Arg154Trp)	KCNN3 (R154W)	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 3025166	NM_002249.6(KCNN3):c.334C>A (p.Pro112Thr)	KCNN3 (P112T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2339889	NM_002249.6(KCNN3):c.250C>T (p.Pro84Ser)	KCNN3 (P84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1685432	NM_002249.6(KCNN3):c.200AGC[21] (p.Gln74_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 1685415	NM_002249.6(KCNN3):c.200AGC[23] (p.Gln72_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GBenign
Select item 1685406	NM_002249.6(KCNN3):c.200AGC[22] (p.Gln73_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified +1 more	GBenign/Likely benign
Select item 1685377	NM_002249.6(KCNN3):c.241_242insAGCAGCAGCAGCCAC (p.Gln80_Pro81insGlnGlnGlnGlnPro)	KCNN3	Insertion (inframe_insertion)	not specified	GBenign
Select item 1685371	NM_002249.6(KCNN3):c.241_242insAGCACCAGCAGC (p.Gln80_Pro81insGlnHisGlnGln)	KCNN3	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 1290509	NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not provided +2 more	GBenign
Select item 682032	NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	KCNN3-related disorder +2 more	GBenign/Likely benign
Select item 403006	NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified	GConflicting classifications of pathogenicity
Select item 403005	NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	Zimmermann-laband syndrome 3 +2 more	GBenign/Likely benign
Select item 403003	NM_002249.6(KCNN3):c.200AGC[18] (p.Gln77_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
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 provided +1 more	GBenign/Likely benign
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 1685424	NM_002249.6(KCNN3):c.200AGC[11] (p.Gln78_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1685397	NM_002249.6(KCNN3):c.200AGC[10] (p.Gln77_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1685389	NM_002249.6(KCNN3):c.200AGC[12] (p.Gln79_Gln80del)	KCNN3	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 403004	NM_002249.6(KCNN3):c.200AGC[13] (p.Gln80del)	KCNN3 (Q80del)	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1208844	NM_002249.6(KCNN3):c.198T>G (p.Leu66=)	KCNN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197867	NM_002249.6(KCNN3):c.197T>A (p.Leu66His)	KCNN3 (L66H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1212871	NM_002249.6(KCNN3):c.191C>A (p.Pro64Gln)	KCNN3 (P64Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1211276	NM_002249.6(KCNN3):c.188C>A (p.Pro63His)	KCNN3 (P63H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2639380	NM_002249.6(KCNN3):c.139C>T (p.Pro47Ser)	KCNN3 (P47S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639381	NM_002249.6(KCNN3):c.87GCA[9] (p.Gln41_Pro42insGln)	KCNN3	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2362038	NM_002249.6(KCNN3):c.87GCA[10] (p.Gln41_Pro42insGlnGln)	KCNN3	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 1239520	NM_002249.6(KCNN3):c.87GCA[5] (p.Gln39_Gln41del)	KCNN3	Microsatellite (inframe_deletion)	not provided	GBenign
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 2336406	NM_002249.6(KCNN3):c.29C>T (p.Ser10Leu)	KCNN3 (S10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

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