ClinVar for Gene (Select 9695) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3274493	NM_014674.3(EDEM1):c.752T>C (p.Met251Thr)	EDEM1 (M251T)	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 3274491	NM_014674.3(EDEM1):c.221C>T (p.Pro74Leu)	EDEM1, LOC129936094 (P74L)	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 3274488	NM_014674.3(EDEM1):c.293C>G (p.Ala98Gly)	EDEM1, LOC129936094 (A98G)	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 3274486	NM_014674.3(EDEM1):c.1609G>A (p.Val537Ile)	EDEM1 (V537I)	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 3274484	NM_014674.3(EDEM1):c.1906A>G (p.Arg636Gly)	EDEM1 (R636G)	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 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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 3087166	NM_014674.3(EDEM1):c.893A>G (p.Asn298Ser)	EDEM1 (N298S)	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 3087163	NM_014674.3(EDEM1):c.784T>C (p.Tyr262His)	EDEM1 (Y262H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3087161	NM_014674.3(EDEM1):c.496G>T (p.Asp166Tyr)	EDEM1, LOC129936095 (D166Y)	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 3087159	NM_014674.3(EDEM1):c.256G>C (p.Ala86Pro)	EDEM1, LOC129936094 (A86P)	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 3087157	NM_014674.3(EDEM1):c.190G>C (p.Gly64Arg)	EDEM1, LOC129936094 (G64R)	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 3087155	NM_014674.3(EDEM1):c.1612A>G (p.Ile538Val)	EDEM1 (I538V)	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 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 2599830	NM_014674.3(EDEM1):c.34C>T (p.Leu12Phe)	EDEM1 (L12F)	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 2591126	NM_014674.3(EDEM1):c.223C>T (p.Pro75Ser)	EDEM1, LOC129936094 (P75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2539041	NM_014674.3(EDEM1):c.1192A>T (p.Ser398Cys)	EDEM1 (S398C)	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 2533203	NM_014674.3(EDEM1):c.1466C>A (p.Pro489Gln)	EDEM1 (P489Q)	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 2524569	NM_014674.3(EDEM1):c.178G>T (p.Val60Leu)	EDEM1 (V60L)	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 2486685	NM_014674.3(EDEM1):c.729C>G (p.Asp243Glu)	EDEM1 (D243E)	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 2396106	NM_014674.3(EDEM1):c.856C>T (p.Arg286Trp)	EDEM1 (R286W)	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 2371740	NM_014674.3(EDEM1):c.820G>A (p.Ala274Thr)	EDEM1 (A274T)	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 2365128	NM_014674.3(EDEM1):c.808C>T (p.Arg270Trp)	EDEM1 (R270W)	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 2297587	NM_014674.3(EDEM1):c.358G>A (p.Gly120Ser)	EDEM1 (G120S)	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 2283983	NM_014674.3(EDEM1):c.358G>T (p.Gly120Cys)	EDEM1 (G120C)	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 2236165	NM_014674.3(EDEM1):c.176C>T (p.Pro59Leu)	EDEM1 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2224043	NM_014674.3(EDEM1):c.172G>T (p.Gly58Trp)	EDEM1 (G58W)	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 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
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1180543	GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 1047886	GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)	ARL8B, BHLHE40 +12 more	Copy number loss	Abnormal brain morphology	GPathogenic
Select item 980633	GRCh37/hg19 3p26.1(chr3:4921390-5408983)x3	BHLHE40, EDEM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688515	GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 687650	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 687648	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 685069	GRCh37/hg19 3p26.1(chr3:5163462-7925439)x1	GRM7, ARL8B +1 more	Copy number loss	not provided	GUncertain significance
Select item 638144	GRCh37/hg19 3p26.1(chr3:4812298-5515770)x3	ITPR1, BHLHE40 +2 more	Copy number gain	See cases	GUncertain significance
Select item 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 625697	GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572)	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562743	GRCh37/hg19 3p26.1(chr3:5163403-7918601)x1	ARL8B, EDEM1 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 562690	GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1	CRBN, LRRN1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562689	GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1	TRNT1, SUMF1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562688	GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1	SETMAR, EDEM1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562687	GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1	EDEM1, EGOT +13 more	Copy number loss	not provided	GPathogenic
Select item 560068	Single allele	ITPR1, SUMF1 +4 more	Duplication	not provided	GUncertain significance
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Seizure +2 more	GLikely pathogenic
Select item 443797	GRCh37/hg19 3p26.2-26.1(chr3:2930451-5953602)x1	ARL8B, BHLHE40 +10 more	Copy number loss	See cases	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 443360	GRCh37/hg19 3p26.3-26.1(chr3:61891-7456866)x1	ARL8B, BHLHE40 +13 more	Copy number loss	See cases	GPathogenic
Select item 443052	GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1	ARL8B, BHLHE40 +17 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 442243	GRCh37/hg19 3p26.3-26.1(chr3:61891-7865381)x1	SETMAR, SUMF1 +13 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	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 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

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