LOC101927078[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 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	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +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	LOC129389350, LOC129389351 +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, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 3343787	NM_021614.4(KCNN2):c.1686G>C (p.Trp562Cys)	KCNN2, LOC101927078 (W2C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365762	NM_021614.4(KCNN2):c.1698_1700dup (p.Thr567_Phe568insThr)	KCNN2, LOC101927078	Duplication (non-coding transcript variant)	not provided	GLikely 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)	KCNN2, LOC101927078 (I637M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +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)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities +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)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3363942	NM_021614.4(KCNN2):c.1721G>A (p.Gly574Asp)	KCNN2, LOC101927078 (G14D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	KCNN2, LOC101927078 (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 3287716	NM_021614.4(KCNN2):c.2144T>C (p.Phe715Ser)	KCNN2, LOC101927078 (F155S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3339898	NM_021614.4(KCNN2):c.2191G>A (p.Gly731Ser)	KCNN2, LOC101927078 (G171S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3287718	NM_021614.4(KCNN2):c.2212G>C (p.Gly738Arg)	KCNN2, LOC101927078 (G178R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3364117	NM_021614.4(KCNN2):c.2242C>T (p.Gln748Ter)	KCNN2, LOC101927078 (Q188* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 3287717	NM_021614.4(KCNN2):c.2318C>T (p.Ser773Leu)	KCNN2, LOC101927078 (S773L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities +2 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GUncertain significance
Select item 156994	Single allele	LINC01957, LOC101927078	Deletion	Preeclampsia	Gnot provided
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic

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Items: 43