AMIGO1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 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 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 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3115828	NM_020703.4(AMIGO1):c.1424G>A (p.Arg475Lys)	AMIGO1 (R475K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115824	NM_020703.4(AMIGO1):c.1382A>T (p.Asn461Ile)	AMIGO1 (N461I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259170	NM_020703.4(AMIGO1):c.1319G>A (p.Arg440Gln)	AMIGO1 (R440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589793	NM_020703.4(AMIGO1):c.1264A>T (p.Thr422Ser)	AMIGO1 (T422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247889	NM_020703.4(AMIGO1):c.1232G>C (p.Gly411Ala)	AMIGO1 (G411A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296333	NM_020703.4(AMIGO1):c.1210G>A (p.Glu404Lys)	AMIGO1 (E404K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369752	NM_020703.4(AMIGO1):c.1205G>A (p.Gly402Asp)	AMIGO1 (G402D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279578	NM_020703.4(AMIGO1):c.1195T>C (p.Trp399Arg)	AMIGO1 (W399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390247	NM_020703.4(AMIGO1):c.1141A>G (p.Ile381Val)	AMIGO1 (I381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115859	NM_020703.4(AMIGO1):c.921A>C (p.Glu307Asp)	AMIGO1 (E307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610050	NM_020703.4(AMIGO1):c.907A>G (p.Thr303Ala)	AMIGO1 (T303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287513	NM_020703.4(AMIGO1):c.827G>A (p.Arg276His)	AMIGO1 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285528	NM_020703.4(AMIGO1):c.770A>G (p.Lys257Arg)	AMIGO1 (K257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285429	NM_020703.4(AMIGO1):c.608C>T (p.Pro203Leu)	AMIGO1 (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555117	NM_020703.4(AMIGO1):c.550C>G (p.Leu184Val)	AMIGO1 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292863	NM_020703.4(AMIGO1):c.542G>A (p.Gly181Glu)	AMIGO1 (G181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115840	NM_020703.4(AMIGO1):c.323C>T (p.Pro108Leu)	AMIGO1 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115835	NM_020703.4(AMIGO1):c.248C>G (p.Thr83Arg)	AMIGO1 (T83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115856	NM_020703.4(AMIGO1):c.82G>A (p.Gly28Ser)	AMIGO1 (G28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718581	NM_020703.4(AMIGO1):c.73G>A (p.Ala25Thr)	AMIGO1 (A25T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2685566	GRCh37/hg19 1p13.3(chr1:109944288-110157840)x1	AMIGO1, ATXN7L2 +7 more	Copy number loss	not provided	GUncertain significance
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 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
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 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 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 1676472	NM_020703.4(AMIGO1):c.1136G>A (p.Gly379Asp)	AMIGO1 (G379D)	Single nucleotide variant	not provided	GUncertain significance

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Items: 40