EDEM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153453	GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3	ARL8B, BHLHE40 +92 more	Copy number gain	See cases	GUncertain significance
Select item 60052	GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1	ARL8B, BHLHE40 +53 more	Copy number loss	See cases	GUncertain significance
Select item 148215	GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3	ARL8B, BHLHE40 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154441	GRCh38/hg38 3p26.1(chr3:4952791-5689195)x3	ARL8B, BHLHE40 +43 more	Copy number gain	See cases	GLikely benign
Select item 2224506	NM_014674.3(EDEM1):c.31G>A (p.Val11Met)	EDEM1 (V11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599830	NM_014674.3(EDEM1):c.34C>T (p.Leu12Phe)	EDEM1 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224043	NM_014674.3(EDEM1):c.172G>T (p.Gly58Trp)	EDEM1 (G58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332181	NM_014674.3(EDEM1):c.173G>A (p.Gly58Glu)	EDEM1 (G58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236165	NM_014674.3(EDEM1):c.176C>T (p.Pro59Leu)	EDEM1 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524569	NM_014674.3(EDEM1):c.178G>T (p.Val60Leu)	EDEM1 (V60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087157	NM_014674.3(EDEM1):c.190G>C (p.Gly64Arg)	EDEM1, LOC129936094 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087158	NM_014674.3(EDEM1):c.193G>C (p.Gly65Arg)	EDEM1, LOC129936094 (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455393	NM_014674.3(EDEM1):c.197T>C (p.Val66Ala)	EDEM1, LOC129936094 (V66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382312	NM_014674.3(EDEM1):c.209C>T (p.Ser70Leu)	EDEM1, LOC129936094 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274491	NM_014674.3(EDEM1):c.221C>T (p.Pro74Leu)	EDEM1, LOC129936094 (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591126	NM_014674.3(EDEM1):c.223C>T (p.Pro75Ser)	EDEM1, LOC129936094 (P75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274485	NM_014674.3(EDEM1):c.238G>T (p.Ala80Ser)	EDEM1, LOC129936094 (A80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087159	NM_014674.3(EDEM1):c.256G>C (p.Ala86Pro)	EDEM1, LOC129936094 (A86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274488	NM_014674.3(EDEM1):c.293C>G (p.Ala98Gly)	EDEM1, LOC129936094 (A98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219933	NM_014674.3(EDEM1):c.313G>A (p.Gly105Ser)	EDEM1, LOC129936094 (G105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274490	NM_014674.3(EDEM1):c.332C>G (p.Pro111Arg)	EDEM1, LOC129936094 (P111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297587	NM_014674.3(EDEM1):c.358G>A (p.Gly120Ser)	EDEM1 (G120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283983	NM_014674.3(EDEM1):c.358G>T (p.Gly120Cys)	EDEM1 (G120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087160	NM_014674.3(EDEM1):c.373C>A (p.Gln125Lys)	EDEM1 (Q125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274487	NM_014674.3(EDEM1):c.401C>T (p.Ala134Val)	EDEM1, LOC129936095 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274492	NM_014674.3(EDEM1):c.467A>G (p.Asn156Ser)	EDEM1, LOC129936095 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087161	NM_014674.3(EDEM1):c.496G>T (p.Asp166Tyr)	EDEM1, LOC129936095 (D166Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365284	NM_014674.3(EDEM1):c.680C>T (p.Thr227Met)	EDEM1 (T227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486685	NM_014674.3(EDEM1):c.729C>G (p.Asp243Glu)	EDEM1 (D243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534948	NM_014674.3(EDEM1):c.734A>G (p.Lys245Arg)	EDEM1 (K245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087162	NM_014674.3(EDEM1):c.739C>A (p.Pro247Thr)	EDEM1 (P247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274493	NM_014674.3(EDEM1):c.752T>C (p.Met251Thr)	EDEM1 (M251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087163	NM_014674.3(EDEM1):c.784T>C (p.Tyr262His)	EDEM1 (Y262H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365128	NM_014674.3(EDEM1):c.808C>T (p.Arg270Trp)	EDEM1 (R270W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371740	NM_014674.3(EDEM1):c.820G>A (p.Ala274Thr)	EDEM1 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087165	NM_014674.3(EDEM1):c.837G>C (p.Lys279Asn)	EDEM1 (K279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396106	NM_014674.3(EDEM1):c.856C>T (p.Arg286Trp)	EDEM1 (R286W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087166	NM_014674.3(EDEM1):c.893A>G (p.Asn298Ser)	EDEM1 (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240430	NM_014674.3(EDEM1):c.911C>T (p.Ala304Val)	EDEM1 (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087167	NM_014674.3(EDEM1):c.935A>C (p.Glu312Ala)	EDEM1 (E312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539041	NM_014674.3(EDEM1):c.1192A>T (p.Ser398Cys)	EDEM1 (S398C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274494	NM_014674.3(EDEM1):c.1298C>G (p.Thr433Ser)	EDEM1 (T433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533203	NM_014674.3(EDEM1):c.1466C>A (p.Pro489Gln)	EDEM1 (P489Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295556	NM_014674.3(EDEM1):c.1520A>G (p.Asn507Ser)	EDEM1 (N507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087154	NM_014674.3(EDEM1):c.1570T>C (p.Tyr524His)	EDEM1 (Y524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274486	NM_014674.3(EDEM1):c.1609G>A (p.Val537Ile)	EDEM1 (V537I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087155	NM_014674.3(EDEM1):c.1612A>G (p.Ile538Val)	EDEM1 (I538V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274483	NM_014674.3(EDEM1):c.1617C>G (p.Asp539Glu)	EDEM1 (D539E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597003	NM_014674.3(EDEM1):c.1766A>G (p.His589Arg)	EDEM1 (H589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531965	NM_014674.3(EDEM1):c.1810G>A (p.Gly604Arg)	EDEM1 (G604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508905	NM_014674.3(EDEM1):c.1837C>T (p.His613Tyr)	EDEM1 (H613Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087156	NM_014674.3(EDEM1):c.1853A>G (p.His618Arg)	EDEM1 (H618R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274484	NM_014674.3(EDEM1):c.1906A>G (p.Arg636Gly)	EDEM1 (R636G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 1809392	GRCh37/hg19 3p26.1(chr3:5069922-5374881)x1	ARL8B, EDEM1	Copy number loss	not provided	GUncertain significance
Select item 1808511	GRCh37/hg19 3p26.3-26.1(chr3:2347813-6381546)x3	ARL8B, BHLHE40 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807746	GRCh37/hg19 3p26.2-26.1(chr3:3718732-5377364)x1	ARL8B, BHLHE40 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526994	GRCh37/hg19 3p26.1(chr3:4876684-7615554)	ARL8B, BHLHE40 +3 more	Copy number gain	not specified	GUncertain significance

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