ELAPOR1[gene] - ClinVar - NCBI

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	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 +332 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	LOC129388571, LOC129388572 +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 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3088175	NM_020775.5(ELAPOR1):c.8A>C (p.Glu3Ala)	ELAPOR1 (E3A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511420	NM_020775.5(ELAPOR1):c.61C>G (p.Arg21Gly)	ELAPOR1 (R21G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088168	NM_020775.5(ELAPOR1):c.62G>T (p.Arg21Leu)	ELAPOR1 (R21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088169	NM_020775.5(ELAPOR1):c.65T>A (p.Ile22Lys)	ELAPOR1 (I22K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088171	NM_020775.5(ELAPOR1):c.70C>T (p.Arg24Trp)	ELAPOR1 (R24W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088131	NM_020775.5(ELAPOR1):c.110A>G (p.Gln37Arg)	ELAPOR1 (Q37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088141	NM_020775.5(ELAPOR1):c.185A>G (p.Asp62Gly)	ELAPOR1 (D62G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597031	NM_020775.5(ELAPOR1):c.190A>G (p.Thr64Ala)	ELAPOR1 (T64A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088145	NM_020775.5(ELAPOR1):c.218C>G (p.Pro73Arg)	ELAPOR1 (P73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088149	NM_020775.5(ELAPOR1):c.243C>G (p.Ser81Arg)	ELAPOR1 (S81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088160	NM_020775.5(ELAPOR1):c.275C>G (p.Ser92Cys)	ELAPOR1 (S92C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088159	NM_020775.5(ELAPOR1):c.275C>A (p.Ser92Tyr)	ELAPOR1 (S92Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088162	NM_020775.5(ELAPOR1):c.331T>C (p.Cys111Arg)	ELAPOR1 (C9R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088163	NM_020775.5(ELAPOR1):c.343C>T (p.Arg115Cys)	ELAPOR1 (R115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088164	NM_020775.5(ELAPOR1):c.350C>G (p.Ser117Cys)	ELAPOR1 (S15C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088165	NM_020775.5(ELAPOR1):c.368G>A (p.Arg123Gln)	ELAPOR1 (R21Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088166	NM_020775.5(ELAPOR1):c.434A>T (p.Asp145Val)	ELAPOR1 (D145V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088167	NM_020775.5(ELAPOR1):c.454G>A (p.Gly152Arg)	ELAPOR1 (G50R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467234	NM_020775.5(ELAPOR1):c.473A>G (p.Lys158Arg)	ELAPOR1 (K158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524396	NM_020775.5(ELAPOR1):c.539C>T (p.Ala180Val)	ELAPOR1 (A180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545956	NM_020775.5(ELAPOR1):c.596G>A (p.Ser199Asn)	ELAPOR1 (S97N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088170	NM_020775.5(ELAPOR1):c.701A>T (p.Glu234Val)	ELAPOR1 (E132V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088172	NM_020775.5(ELAPOR1):c.710G>A (p.Arg237Gln)	ELAPOR1 (R237Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088173	NM_020775.5(ELAPOR1):c.844A>T (p.Thr282Ser)	ELAPOR1 (T180S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088174	NM_020775.5(ELAPOR1):c.890C>G (p.Ala297Gly)	ELAPOR1 (A195G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590499	NM_020775.5(ELAPOR1):c.927C>G (p.His309Gln)	ELAPOR1 (H309Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516232	NM_020775.5(ELAPOR1):c.1016A>C (p.His339Pro)	ELAPOR1 (H237P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088125	NM_020775.5(ELAPOR1):c.1019C>T (p.Thr340Met)	ELAPOR1 (T238M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088126	NM_020775.5(ELAPOR1):c.1027G>A (p.Asp343Asn)	ELAPOR1 (D343N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088127	NM_020775.5(ELAPOR1):c.1034A>G (p.Asn345Ser)	ELAPOR1 (N345S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088128	NM_020775.5(ELAPOR1):c.1091T>C (p.Leu364Pro)	ELAPOR1 (L277P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088129	NM_020775.5(ELAPOR1):c.1093G>A (p.Glu365Lys)	ELAPOR1 (E263K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088130	NM_020775.5(ELAPOR1):c.1095G>C (p.Glu365Asp)	ELAPOR1 (E27D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088132	NM_020775.5(ELAPOR1):c.1133A>C (p.His378Pro)	ELAPOR1 (H291P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088133	NM_020775.5(ELAPOR1):c.1172A>G (p.Asn391Ser)	ELAPOR1 (N53S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088134	NM_020775.5(ELAPOR1):c.1192C>T (p.Pro398Ser)	ELAPOR1 (P398S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521292	NM_020775.5(ELAPOR1):c.1208C>A (p.Ser403Tyr)	ELAPOR1 (S316Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088135	NM_020775.5(ELAPOR1):c.1241G>C (p.Gly414Ala)	ELAPOR1 (G312A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088136	NM_020775.5(ELAPOR1):c.1267T>C (p.Tyr423His)	ELAPOR1 (Y321H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088137	NM_020775.5(ELAPOR1):c.1378A>G (p.Thr460Ala)	ELAPOR1 (T373A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088138	NM_020775.5(ELAPOR1):c.1420C>G (p.Leu474Val)	ELAPOR1 (L387V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615311	NM_020775.5(ELAPOR1):c.1429C>G (p.Pro477Ala)	ELAPOR1 (P139A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609527	NM_020775.5(ELAPOR1):c.1686C>A (p.Ser562Arg)	ELAPOR1 (S224R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088139	NM_020775.5(ELAPOR1):c.1718A>G (p.Tyr573Cys)	ELAPOR1 (Y471C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088140	NM_020775.5(ELAPOR1):c.1766G>A (p.Arg589His)	ELAPOR1 (R251H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777927	NM_020775.5(ELAPOR1):c.1932G>A (p.Gly644=)	ELAPOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088142	NM_020775.5(ELAPOR1):c.1951C>T (p.His651Tyr)	ELAPOR1 (H549Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088143	NM_020775.5(ELAPOR1):c.2084A>T (p.Tyr695Phe)	ELAPOR1 (Y593F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088144	NM_020775.5(ELAPOR1):c.2144C>T (p.Thr715Ile)	ELAPOR1, LOC126805820 (T377I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777928	NM_020775.5(ELAPOR1):c.2154C>G (p.Val718=)	ELAPOR1, LOC126805820	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509270	NM_020775.5(ELAPOR1):c.2165G>A (p.Arg722Gln)	ELAPOR1, LOC126805820 (R620Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088146	NM_020775.5(ELAPOR1):c.2216G>A (p.Cys739Tyr)	ELAPOR1, LOC126805820 (C401Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088147	NM_020775.5(ELAPOR1):c.2305G>T (p.Val769Leu)	ELAPOR1, LOC126805820 (V667L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088148	NM_020775.5(ELAPOR1):c.2383G>A (p.Val795Met)	ELAPOR1, LOC126805820 (V457M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088150	NM_020775.5(ELAPOR1):c.2449C>T (p.Arg817Cys)	ELAPOR1 (R730C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088151	NM_020775.5(ELAPOR1):c.2450G>A (p.Arg817His)	ELAPOR1 (R817H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088152	NM_020775.5(ELAPOR1):c.2452G>C (p.Val818Leu)	ELAPOR1 (V731L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088153	NM_020775.5(ELAPOR1):c.2479C>T (p.Pro827Ser)	ELAPOR1 (P740S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088154	NM_020775.5(ELAPOR1):c.2504C>T (p.Thr835Met)	ELAPOR1 (T497M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088155	NM_020775.5(ELAPOR1):c.2510C>T (p.Ser837Leu)	ELAPOR1 (S499L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088156	NM_020775.5(ELAPOR1):c.2556C>A (p.Ser852Arg)	ELAPOR1 (S750R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547946	NM_020775.5(ELAPOR1):c.2594A>G (p.His865Arg)	ELAPOR1 (H527R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088157	NM_020775.5(ELAPOR1):c.2621G>A (p.Gly874Glu)	ELAPOR1 (G787E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088158	NM_020775.5(ELAPOR1):c.2756C>T (p.Thr919Ile)	ELAPOR1 (T581I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523267	NM_020775.5(ELAPOR1):c.2773G>A (p.Val925Ile)	ELAPOR1 (V823I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088161	NM_020775.5(ELAPOR1):c.2939C>T (p.Ser980Leu)	ELAPOR1 (S642L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513467	NM_020775.5(ELAPOR1):c.3036C>A (p.Asp1012Glu)	ELAPOR1 (D1012E +2 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 3063332	GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3	CELSR2, CFAP276 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685815	GRCh37/hg19 1p13.3(chr1:109494147-109818306)x3	CLCC1, ELAPOR1 +6 more	Copy number gain	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 2423588	NC_000001.10:g.(?_109428145)_(109817590_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527248	GRCh37/hg19 1p13.3(chr1:109396970-109807574)	AKNAD1, CELSR2 +8 more	Copy number gain	not specified	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 1010549	NC_000001.10:g.(?_109428145)_(109816671_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 814117	GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1	GPSM2, CFAP276 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687687	GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3	CELSR2, CFAP276 +7 more	Copy number gain	not provided	GUncertain significance
Select item 686200	GRCh37/hg19 1p13.3(chr1:109425142-109703243)x3	CFAP276, CLCC1 +5 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 585239	GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3	ELAPOR1, GPSM2 +6 more	Copy number gain	not provided	Gnot provided
Select item 565138	GRCh37/hg19 1p13.3(chr1:109680019-109762816)x1	SARS1, ELAPOR1	Copy number loss	not provided	GUncertain significance
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic

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