ClinVar for Gene (Select 284716) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314347	NM_173642.4(RIMKLA):c.224C>A (p.Pro75His)	RIMKLA (P75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154356	NM_173642.4(RIMKLA):c.911C>A (p.Pro304Gln)	RIMKLA (P304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154355	NM_173642.4(RIMKLA):c.542G>A (p.Arg181His)	RIMKLA (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154354	NM_173642.4(RIMKLA):c.320A>G (p.Asn107Ser)	RIMKLA (N107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2519554	NM_173642.4(RIMKLA):c.102C>G (p.Asp34Glu)	RIMKLA (D34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513181	NM_173642.4(RIMKLA):c.1040C>T (p.Thr347Ile)	RIMKLA (T347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487845	NM_173642.4(RIMKLA):c.644G>A (p.Arg215His)	RIMKLA (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473147	NM_173642.4(RIMKLA):c.1093A>G (p.Thr365Ala)	RIMKLA (T365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462145	NM_173642.4(RIMKLA):c.122T>G (p.Leu41Arg)	RIMKLA (L41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363652	NM_173642.4(RIMKLA):c.1116G>A (p.Met372Ile)	RIMKLA (M372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360320	NM_173642.4(RIMKLA):c.1019A>G (p.Tyr340Cys)	RIMKLA (Y340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346518	NM_173642.4(RIMKLA):c.541C>T (p.Arg181Cys)	RIMKLA (R181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305050	NM_173642.4(RIMKLA):c.121C>G (p.Leu41Val)	RIMKLA (L41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296262	NM_173642.4(RIMKLA):c.1076G>A (p.Arg359Gln)	RIMKLA (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290518	NM_173642.4(RIMKLA):c.299A>G (p.Asn100Ser)	RIMKLA (N100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267961	NM_173642.4(RIMKLA):c.1079A>G (p.Asp360Gly)	RIMKLA (D360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 242842	GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1	RIMKLA, FOXO6 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 27