ClinVar for Gene (Select 284611) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274581	NM_001010883.3(EEIG2):c.103C>A (p.Leu35Met)	EEIG2 (L35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087384	NM_001010883.3(EEIG2):c.860A>T (p.Asp287Val)	EEIG2 (D287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087383	NM_001010883.3(EEIG2):c.836T>G (p.Leu279Arg)	EEIG2 (L279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087382	NM_001010883.3(EEIG2):c.781A>G (p.Ile261Val)	EEIG2 (I261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087381	NM_001010883.3(EEIG2):c.74A>G (p.Asn25Ser)	EEIG2 (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087380	NM_001010883.3(EEIG2):c.475A>G (p.Ile159Val)	EEIG2 (I159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087379	NM_001010883.3(EEIG2):c.205A>G (p.Ser69Gly)	EEIG2 (S69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087378	NM_001010883.3(EEIG2):c.1021A>G (p.Ser341Gly)	EEIG2 (S341G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685814	GRCh37/hg19 1p13.3(chr1:109069332-109366802)x3	AKNAD1, EEIG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2599689	NM_001010883.3(EEIG2):c.37T>G (p.Phe13Val)	EEIG2 (F13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593838	NM_001010883.3(EEIG2):c.596G>T (p.Gly199Val)	EEIG2 (G199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527837	NM_001010883.3(EEIG2):c.298G>A (p.Ala100Thr)	EEIG2 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458380	NM_001010883.3(EEIG2):c.770T>C (p.Ile257Thr)	EEIG2 (I257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979271	GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	AKNAD1, EEIG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
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
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 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
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 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31