KCNN2[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	LOC129994315, LOC129994316 +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, APC +119 more	Copy number loss	See cases	GPathogenic
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 221708	GRCh38/hg38 5q22.3(chr5:114167726-114281297)x1	KCNN2	Copy number loss	Premature ovarian failure	GBenign
Select item 3027297	NM_001372233.1(KCNN2):c.52C>T (p.Pro18Ser)	KCNN2 (P18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026052	NM_021614.4(KCNN2):c.314C>T (p.Ser105Leu)	KCNN2 (S105L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655642	NM_021614.4(KCNN2):c.329C>T (p.Ser110Leu)	KCNN2 (S110L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655643	NM_021614.4(KCNN2):c.354G>T (p.Ser118=)	KCNN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2506500	NM_021614.4(KCNN2):c.428_439dup (p.Gln146_Ser147insTyrAlaGlnGln)	KCNN2	Duplication (inframe_insertion +1 more)	Dystonia 34, myoclonic	GUncertain significance
Select item 2655644	NM_021614.4(KCNN2):c.485G>C (p.Ser162Thr)	KCNN2 (S162T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502471	NM_021614.4(KCNN2):c.637A>G (p.Met213Val)	KCNN2 (M213V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2484761	NM_021614.4(KCNN2):c.670C>G (p.Arg224Gly)	KCNN2 (R290G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1978725	NM_021614.4(KCNN2):c.674C>T (p.Pro225Leu)	KCNN2 (P291L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175041	NM_021614.4(KCNN2):c.698G>T (p.Arg233Leu)	KCNN2 (R233L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2534900	NM_021614.4(KCNN2):c.718G>C (p.Asp240His)	KCNN2 (D240H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3027193	NM_021614.4(KCNN2):c.725_726del (p.Glu242fs)	KCNN2 (E242fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 521195	NM_021614.4(KCNN2):c.724G>C (p.Glu242Gln)	KCNN2 (E242Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113447	NM_021614.4(KCNN2):c.743C>A (p.Pro248His)	KCNN2 (P314H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655645	NM_021614.4(KCNN2):c.743C>T (p.Pro248Leu)	KCNN2 (P248L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025823	NM_021614.4(KCNN2):c.782C>G (p.Pro261Arg)	KCNN2 (P261R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 769655	NM_021614.4(KCNN2):c.798CGC[5] (p.Ala270dup)	KCNN2	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1687498	NM_021614.4(KCNN2):c.804_805insTCC (p.Ala268_Ala269insSer)	KCNN2	Insertion (inframe_insertion +1 more)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	GUncertain significance
Select item 2493012	NM_021614.4(KCNN2):c.838G>A (p.Val280Met)	KCNN2 (V280M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1392272	NM_021614.4(KCNN2):c.838G>T (p.Val280Leu)	KCNN2 (V280L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692568	NM_021614.4(KCNN2):c.842C>G (p.Ser281Cys)	KCNN2 (S347C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2673021	NM_021614.4(KCNN2):c.842C>T (p.Ser281Phe)	KCNN2 (S281F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582352	NM_021614.4(KCNN2):c.866A>G (p.Asn289Ser)	KCNN2 (N289S +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	GUncertain significance
Select item 3113449	NM_021614.4(KCNN2):c.904A>C (p.Thr302Pro)	KCNN2 (T368P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1804247	NM_021614.4(KCNN2):c.919G>A (p.Gly307Ser)	KCNN2 (G307S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2545618	NM_021614.4(KCNN2):c.934G>C (p.Gly312Arg)	KCNN2 (G312R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655646	NM_021614.4(KCNN2):c.940G>C (p.Gly314Arg)	KCNN2 (G314R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581984	NM_021614.4(KCNN2):c.971A>G (p.Lys324Arg)	KCNN2 (K324R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973617	NM_021614.4(KCNN2):c.995A>G (p.Lys332Arg)	KCNN2 (K332R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3113450	NM_021614.4(KCNN2):c.1000G>A (p.Gly334Ser)	KCNN2 (G400S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2571228	NM_021614.4(KCNN2):c.1004A>G (p.His335Arg)	KCNN2 (H335R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026220	NM_021614.4(KCNN2):c.1015C>T (p.Leu339=)	KCNN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2536801	NM_021614.4(KCNN2):c.1031A>G (p.Lys344Arg)	KCNN2 (K344R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2632011	NM_021614.4(KCNN2):c.1054A>G (p.Ile352Val)	KCNN2 (I352V +1 more)	Single nucleotide variant (missense variant +1 more)	KCNN2-related condition	GUncertain significance
Select item 933142	NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)	KCNN2 (Y372* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, severe +3 more	GPathogenic
Select item 2499528	NM_021614.4(KCNN2):c.1193T>C (p.Ile398Thr)	KCNN2 (I398T +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	GUncertain significance
Select item 2655647	NM_021614.4(KCNN2):c.1203C>T (p.His401=)	KCNN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1302424	NM_021614.4(KCNN2):c.1207A>G (p.Arg403Gly)	KCNN2 (R403G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342588	NM_021614.4(KCNN2):c.1235A>G (p.Asn412Ser)	KCNN2 (N412S +1 more)	Single nucleotide variant (missense variant)	KCNN2-related Neurodevelopmental movement disorder	GUncertain significance
Select item 2504455	NM_021614.4(KCNN2):c.1299A>G (p.Ile433Met)	KCNN2 (I433M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502639	NM_021614.4(KCNN2):c.1324C>T (p.Pro442Ser)	KCNN2 (P442S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571229	NM_021614.4(KCNN2):c.1325C>T (p.Pro442Leu)	KCNN2 (P442L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3069186	NM_021614.4(KCNN2):c.1384dup (p.Thr462fs)	KCNN2 (T462fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities +1 more	GPathogenic
Select item 3113451	NM_021614.4(KCNN2):c.1391C>G (p.Ala464Gly)	KCNN2 (A464G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 933141	NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer)	KCNN2	Deletion (nonsense)	Intellectual disability, mild +2 more	GPathogenic
Select item 933143	NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)	KCNN2 (I566S +1 more)	Indel (missense variant)	Motor tics +3 more	GLikely pathogenic
Select item 1878691	NM_021614.4(KCNN2):c.1499T>C (p.Ile500Thr)	KCNN2 (I500T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521994	NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del)	KCNN2 (L533del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2579479	NM_021614.4(KCNN2):c.1708T>C (p.Ser570Pro)	KCNN2, LOC101927078 (S10P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 933144	NM_021614.4(KCNN2):c.1713T>G (p.Ile571Met)	LOC101927078, KCNN2 (I637M +2 more)	Single nucleotide variant (missense variant +1 more)	Motor tics +4 more	GConflicting classifications of pathogenicity
Select item 933145	NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)	KCNN2, LOC101927078 (Y13C +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +4 more	GLikely pathogenic
Select item 933146	NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser)	KCNN2, LOC101927078 (G640S +2 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 1338743	NM_021614.4(KCNN2):c.1748G>A (p.Gly583Glu)	KCNN2, LOC101927078 (G23E +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 34, myoclonic	GPathogenic
Select item 1699369	NM_021614.4(KCNN2):c.1771G>C (p.Gly591Arg)	KCNN2, LOC101927078 (G31R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 933147	NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val)	KCNN2, LOC101927078 (L40V +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +2 more	GPathogenic
Select item 2207510	NM_021614.4(KCNN2):c.1831C>A (p.Leu611Ile)	KCNN2, LOC101927078 (L677I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 933148	NM_021614.4(KCNN2):c.1890+2T>C	KCNN2, LOC101927078	Single nucleotide variant (splice donor variant)	Autistic behavior +4 more	GLikely pathogenic
Select item 933149	NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)	LOC101927078, KCNN2 (L644P +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskinesia +3 more	GPathogenic
Select item 1705549	NM_021614.4(KCNN2):c.1970A>G (p.His657Arg)	KCNN2, LOC101927078 (H657R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	GUncertain significance
Select item 2499578	NM_021614.4(KCNN2):c.1977dup (p.Val660fs)	KCNN2, LOC101927078 (V100fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	GLikely pathogenic
Select item 2408393	NM_021614.4(KCNN2):c.1976A>G (p.Lys659Arg)	KCNN2, LOC101927078 (K659R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2575728	NM_021614.4(KCNN2):c.1988A>T (p.His663Leu)	KCNN2, LOC101927078 (H103L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025191	NM_021614.4(KCNN2):c.2202C>T (p.His734=)	KCNN2, LOC101927078	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578982	NM_021614.4(KCNN2):c.2253C>T (p.Phe751=)	KCNN2, LOC101927078	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2326381	NM_021614.4(KCNN2):c.2267T>G (p.Met756Arg)	KCNN2, LOC101927078 (M756R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536800	NM_021614.4(KCNN2):c.2308T>C (p.Ser770Pro)	KCNN2, LOC101927078 (S210P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286949	NM_021614.4(KCNN2):c.2312G>A (p.Arg771Gln)	KCNN2, LOC101927078 (R211Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3113448	NM_021614.4(KCNN2):c.2332C>T (p.Arg778Trp)	KCNN2, LOC101927078 (R844W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2631563	NM_021614.4(KCNN2):c.2344A>G (p.Thr782Ala)	KCNN2, LOC101927078 (T222A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	KCNN2-related condition	GUncertain significance
Select item 2655648	NM_021614.4(KCNN2):c.2362T>C (p.Ser788Pro)	KCNN2, LOC101927078 (S228P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527187	GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797)	TSSK1B, YTHDC2 +7 more	Copy number loss	not specified	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	AP3S1, APC +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 98