Related gene-specific medical variations for Gene (Select 3781) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 933145	NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)	LOC101927078, KCNN2 (Y13C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +4 more	GLikely pathogenic
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 221708	GRCh38/hg38 5q22.3(chr5:114167726-114281297)x1	KCNN2	Copy number loss	Premature ovarian failure	GBenign

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Links from Gene

Items: 24