MIDEAS[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	COQ6, DNAL1 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 3126384	NM_001367710.1(MIDEAS):c.3053T>C (p.Phe1018Ser)	MIDEAS (F1018S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467984	NM_001367710.1(MIDEAS):c.3019G>A (p.Glu1007Lys)	MIDEAS (E1007K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126383	NM_001367710.1(MIDEAS):c.2936C>T (p.Ser979Leu)	MIDEAS (S979L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126382	NM_001367710.1(MIDEAS):c.2930A>G (p.Asn977Ser)	MIDEAS (N977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294821	NM_001367710.1(MIDEAS):c.2909C>T (p.Ala970Val)	MIDEAS (A970V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126381	NM_001367710.1(MIDEAS):c.2897C>T (p.Ala966Val)	MIDEAS (A966V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126379	NM_001367710.1(MIDEAS):c.2891G>A (p.Arg964Gln)	MIDEAS (R964Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126378	NM_001367710.1(MIDEAS):c.2882G>A (p.Arg961His)	MIDEAS (R961H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126377	NM_001367710.1(MIDEAS):c.2854A>G (p.Lys952Glu)	MIDEAS (K952E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620540	NM_001367710.1(MIDEAS):c.2831A>T (p.Glu944Val)	MIDEAS (E944V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126375	NM_001367710.1(MIDEAS):c.2773A>T (p.Ser925Cys)	MIDEAS (S925C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126374	NM_001367710.1(MIDEAS):c.2773A>G (p.Ser925Gly)	MIDEAS (S925G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126373	NM_001367710.1(MIDEAS):c.2678C>T (p.Thr893Met)	MIDEAS (T893M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561726	NM_001367710.1(MIDEAS):c.2527A>C (p.Lys843Gln)	MIDEAS (K843Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126372	NM_001367710.1(MIDEAS):c.2495A>G (p.Gln832Arg)	MIDEAS (Q832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126371	NM_001367710.1(MIDEAS):c.2462C>T (p.Pro821Leu)	MIDEAS (P821L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126369	NM_001367710.1(MIDEAS):c.2447G>A (p.Arg816Gln)	MIDEAS (R816Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126368	NM_001367710.1(MIDEAS):c.2420A>G (p.Asn807Ser)	MIDEAS (N807S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126367	NM_001367710.1(MIDEAS):c.2321C>T (p.Thr774Ile)	MIDEAS (T774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126366	NM_001367710.1(MIDEAS):c.2298G>C (p.Gln766His)	MIDEAS (Q766H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126365	NM_001367710.1(MIDEAS):c.2263C>T (p.Pro755Ser)	MIDEAS (P755S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126364	NM_001367710.1(MIDEAS):c.2254G>A (p.Val752Met)	MIDEAS (V752M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126363	NM_001367710.1(MIDEAS):c.2235T>A (p.Asp745Glu)	MIDEAS (D745E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294825	NM_001367710.1(MIDEAS):c.2216G>A (p.Arg739His)	MIDEAS (R739H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126362	NM_001367710.1(MIDEAS):c.2146C>G (p.Pro716Ala)	MIDEAS (P716A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126360	NM_001367710.1(MIDEAS):c.2105A>C (p.Glu702Ala)	MIDEAS (E702A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539742	NM_001367710.1(MIDEAS):c.2059A>G (p.Thr687Ala)	MIDEAS (T687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294832	NM_001367710.1(MIDEAS):c.2030C>A (p.Thr677Asn)	MIDEAS (T677N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126359	NM_001367710.1(MIDEAS):c.2015A>G (p.Asn672Ser)	MIDEAS (N672S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126358	NM_001367710.1(MIDEAS):c.1912G>A (p.Val638Met)	MIDEAS (V638M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126357	NM_001367710.1(MIDEAS):c.1904G>A (p.Arg635His)	MIDEAS (R635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294827	NM_001367710.1(MIDEAS):c.1865C>T (p.Pro622Leu)	MIDEAS (P622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511130	NM_001367710.1(MIDEAS):c.1793G>A (p.Arg598Gln)	MIDEAS (R598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126356	NM_001367710.1(MIDEAS):c.1706G>T (p.Arg569Leu)	MIDEAS (R569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485476	NM_001367710.1(MIDEAS):c.1696A>G (p.Ile566Val)	MIDEAS (I566V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126355	NM_001367710.1(MIDEAS):c.1663G>A (p.Glu555Lys)	MIDEAS (E555K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538563	NM_001367710.1(MIDEAS):c.1622C>T (p.Ala541Val)	MIDEAS (A541V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126353	NM_001367710.1(MIDEAS):c.1606G>A (p.Val536Met)	MIDEAS (V536M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553147	NM_001367710.1(MIDEAS):c.1557C>G (p.Asp519Glu)	MIDEAS (D519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126352	NM_001367710.1(MIDEAS):c.1475G>A (p.Arg492Gln)	MIDEAS (R492Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488578	NM_001367710.1(MIDEAS):c.1385A>C (p.Gln462Pro)	MIDEAS (Q462P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126351	NM_001367710.1(MIDEAS):c.1376G>A (p.Arg459Gln)	MIDEAS (R459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126350	NM_001367710.1(MIDEAS):c.1367G>A (p.Arg456Gln)	MIDEAS (R456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550862	NM_001367710.1(MIDEAS):c.1343G>A (p.Gly448Asp)	MIDEAS (G448D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294826	NM_001367710.1(MIDEAS):c.1339C>T (p.Arg447Trp)	MIDEAS (R447W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126349	NM_001367710.1(MIDEAS):c.1276C>T (p.Pro426Ser)	MIDEAS (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126348	NM_001367710.1(MIDEAS):c.1262G>A (p.Arg421Gln)	MIDEAS (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126347	NM_001367710.1(MIDEAS):c.1252C>T (p.Pro418Ser)	MIDEAS (P418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126346	NM_001367710.1(MIDEAS):c.1214G>T (p.Arg405Met)	MIDEAS (R405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457331	NM_001367710.1(MIDEAS):c.1204C>G (p.Leu402Val)	MIDEAS (L402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527244	NM_001367710.1(MIDEAS):c.1118G>A (p.Gly373Asp)	MIDEAS (G373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474401	NM_001367710.1(MIDEAS):c.1030C>T (p.Arg344Cys)	MIDEAS (R344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489460	NM_001367710.1(MIDEAS):c.971C>A (p.Ala324Asp)	MIDEAS (A324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126395	NM_001367710.1(MIDEAS):c.962T>C (p.Leu321Pro)	MIDEAS (L321P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509506	NM_001367710.1(MIDEAS):c.938C>G (p.Pro313Arg)	MIDEAS (P313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126394	NM_001367710.1(MIDEAS):c.922C>A (p.Pro308Thr)	MIDEAS (P308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126393	NM_001367710.1(MIDEAS):c.907C>T (p.His303Tyr)	MIDEAS (H303Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126392	NM_001367710.1(MIDEAS):c.896C>T (p.Ser299Phe)	MIDEAS (S299F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126391	NM_001367710.1(MIDEAS):c.859G>A (p.Asp287Asn)	MIDEAS (D287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126390	NM_001367710.1(MIDEAS):c.716C>T (p.Pro239Leu)	MIDEAS (P239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541835	NM_001367710.1(MIDEAS):c.704C>T (p.Pro235Leu)	MIDEAS (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600431	NM_001367710.1(MIDEAS):c.700C>G (p.Pro234Ala)	MIDEAS (P234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294828	NM_001367710.1(MIDEAS):c.686T>C (p.Val229Ala)	MIDEAS (V229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294831	NM_001367710.1(MIDEAS):c.607G>A (p.Ala203Thr)	MIDEAS (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557179	NM_001367710.1(MIDEAS):c.547A>T (p.Met183Leu)	MIDEAS (M183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126387	NM_001367710.1(MIDEAS):c.539G>A (p.Arg180Gln)	MIDEAS (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294822	NM_001367710.1(MIDEAS):c.467C>T (p.Pro156Leu)	MIDEAS (P156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617222	NM_001367710.1(MIDEAS):c.457G>A (p.Val153Met)	MIDEAS (V153M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126386	NM_001367710.1(MIDEAS):c.446C>T (p.Pro149Leu)	MIDEAS (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294830	NM_001367710.1(MIDEAS):c.436A>G (p.Lys146Glu)	MIDEAS (K146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126385	NM_001367710.1(MIDEAS):c.337G>A (p.Gly113Ser)	MIDEAS (G113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126376	NM_001367710.1(MIDEAS):c.283G>A (p.Val95Ile)	MIDEAS (V95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126370	NM_001367710.1(MIDEAS):c.244C>T (p.Arg82Trp)	MIDEAS (R82W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294824	NM_001367710.1(MIDEAS):c.236G>C (p.Gly79Ala)	MIDEAS (G79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126354	NM_001367710.1(MIDEAS):c.164C>A (p.Ala55Glu)	MIDEAS (A55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482081	NM_001367710.1(MIDEAS):c.163G>A (p.Ala55Thr)	MIDEAS (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126389	NM_001367710.1(MIDEAS):c.59G>A (p.Gly20Asp)	MIDEAS (G20D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3294823	NM_001367710.1(MIDEAS):c.43C>T (p.Arg15Cys)	MIDEAS (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465162	NM_001367710.1(MIDEAS):c.35A>G (p.Lys12Arg)	MIDEAS (K12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	COQ6, ENTPD5 +23 more	Copy number gain	See cases	GUncertain significance
Select item 3244015	NC_000014.8:g.(?_74111743)_(74551097_?)del	ALDH6A1, BBOF1 +8 more	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 564126	GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	ABCD4, ALDH6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 96