CIMAP3[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3235415	NM_181643.6(CIMAP3):c.46A>G (p.Thr16Ala)	CIMAP3 (T16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267409	NM_181643.6(CIMAP3):c.67T>C (p.Phe23Leu)	CIMAP3 (F23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235387	NM_181643.6(CIMAP3):c.199A>G (p.Ser67Gly)	CIMAP3 (S67G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235394	NM_181643.6(CIMAP3):c.359A>C (p.Lys120Thr)	CIMAP3 (K120T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235401	NM_181643.6(CIMAP3):c.407C>T (p.Pro136Leu)	CIMAP3 (P103L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235402	NM_181643.6(CIMAP3):c.414G>T (p.Lys138Asn)	CIMAP3 (K105N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356564	NM_181643.6(CIMAP3):c.434C>G (p.Ala145Gly)	CIMAP3 (A145G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465907	NM_181643.6(CIMAP3):c.442A>G (p.Met148Val)	CIMAP3 (M148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464227	NM_181643.6(CIMAP3):c.541A>G (p.Asn181Asp)	CIMAP3 (N148D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469253	NM_181643.6(CIMAP3):c.544C>T (p.Arg182Cys)	CIMAP3 (R182C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398995	NM_181643.6(CIMAP3):c.545G>A (p.Arg182His)	CIMAP3 (R182H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
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

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Items: 23