ClinVar for Gene (Select 387733) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3108218	NM_001025295.3(IFITM5):c.173C>T (p.Ala58Val)	IFITM5 (A58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2994747	NM_001025295.3(IFITM5):c.313_322del (p.Val105fs)	IFITM5 (V105fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2988936	NM_001025295.3(IFITM5):c.43C>T (p.Pro15Ser)	IFITM5 (P15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988525	NM_001025295.3(IFITM5):c.223G>A (p.Ala75Thr)	IFITM5 (A75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988228	NM_001025295.3(IFITM5):c.310G>A (p.Val104Met)	IFITM5 (V104M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987556	NM_001025295.3(IFITM5):c.261C>T (p.Ile87=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984362	NM_001025295.3(IFITM5):c.338G>C (p.Arg113Pro)	IFITM5 (R113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974197	NM_001025295.3(IFITM5):c.328C>T (p.His110Tyr)	IFITM5 (H110Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954843	NM_001025295.3(IFITM5):c.101G>A (p.Arg34Gln)	IFITM5 (R34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914504	NM_001025295.3(IFITM5):c.11C>T (p.Ala4Val)	IFITM5 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2871324	NM_001025295.3(IFITM5):c.186+14C>T	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852899	NM_001025295.3(IFITM5):c.263T>C (p.Leu88Pro)	IFITM5 (L88P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802555	NM_001025295.3(IFITM5):c.186+17C>T	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767661	NM_001025295.3(IFITM5):c.54C>T (p.Ala18=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739282	NM_001025295.3(IFITM5):c.90C>T (p.His30=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723518	NM_001025295.3(IFITM5):c.38C>T (p.Pro13Leu)	IFITM5 (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704259	NM_001025295.3(IFITM5):c.191G>A (p.Arg64Gln)	IFITM5, LOC130005046 (R64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2691489	NM_001025295.3(IFITM5):c.94C>T (p.Pro32Ser)	IFITM5 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641038	NM_001025295.3(IFITM5):c.168G>A (p.Ala56=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588153	NM_001025295.3(IFITM5):c.117G>T (p.Trp39Cys)	IFITM5 (W39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	CDHR5, MIR210HG +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2513488	NM_001025295.3(IFITM5):c.58G>A (p.Ala20Thr)	IFITM5 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2418441	NM_001025295.3(IFITM5):c.202G>C (p.Val68Leu)	IFITM5, LOC130005046 (V68L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2332639	NM_001025295.3(IFITM5):c.63C>G (p.His21Gln)	IFITM5 (H21Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196306	NM_001025295.3(IFITM5):c.26A>G (p.Asp9Gly)	IFITM5 (D9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194348	NM_001025295.3(IFITM5):c.283G>C (p.Val95Leu)	IFITM5 (V95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192954	NM_001025295.3(IFITM5):c.287C>T (p.Pro96Leu)	IFITM5 (P96L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187160	NM_001025295.3(IFITM5):c.61C>T (p.His21Tyr)	IFITM5 (H21Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173146	NM_001025295.3(IFITM5):c.206T>C (p.Val69Ala)	IFITM5 (V69A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2163159	NM_001025295.3(IFITM5):c.22G>A (p.Glu8Lys)	IFITM5 (E8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158535	NM_001025295.3(IFITM5):c.254A>G (p.Tyr85Cys)	IFITM5 (Y85C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2138248	NM_001025295.3(IFITM5):c.186+6_186+57del	IFITM5	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2127003	NM_001025295.3(IFITM5):c.124T>C (p.Phe42Leu)	IFITM5 (F42L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2084133	NM_001025295.3(IFITM5):c.387G>A (p.Ala129=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069253	NM_001025295.3(IFITM5):c.358G>A (p.Ala120Thr)	IFITM5 (A120T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2068905	NM_001025295.3(IFITM5):c.37C>T (p.Pro13Ser)	IFITM5 (P13S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2066198	NM_001025295.3(IFITM5):c.196C>G (p.Gln66Glu)	IFITM5, LOC130005046 (Q66E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2052758	NM_001025295.3(IFITM5):c.157G>A (p.Gly53Ser)	IFITM5 (G53S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1999077	NM_001025295.3(IFITM5):c.185A>G (p.Lys62Arg)	IFITM5 (K62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973352	NM_001025295.3(IFITM5):c.9G>A (p.Thr3=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968910	NM_001025295.3(IFITM5):c.154C>T (p.Leu52Phe)	IFITM5 (L52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966308	NM_001025295.3(IFITM5):c.24G>C (p.Glu8Asp)	IFITM5 (E8D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1956590	NM_001025295.3(IFITM5):c.176A>G (p.Tyr59Cys)	IFITM5 (Y59C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947327	NM_001025295.3(IFITM5):c.228G>C (p.Arg76=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939652	NM_001025295.3(IFITM5):c.186+15dup	IFITM5	Duplication (intron variant)	not provided	GLikely benign
Select item 1927589	NM_001025295.3(IFITM5):c.19C>T (p.Arg7Cys)	IFITM5 (R7C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919818	NM_001025295.3(IFITM5):c.330C>G (p.His110Gln)	IFITM5 (H110Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1918993	NM_001025295.3(IFITM5):c.82G>A (p.Ala28Thr)	IFITM5 (A28T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1918249	NM_001025295.3(IFITM5):c.279G>A (p.Thr93=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917149	NM_001025295.3(IFITM5):c.186+9G>A	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916872	NM_001025295.3(IFITM5):c.226C>T (p.Arg76Trp)	IFITM5 (R76W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1915453	NM_001025295.3(IFITM5):c.187-15C>T	IFITM5, LOC130005046	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914960	NM_001025295.3(IFITM5):c.35C>T (p.Ala12Val)	IFITM5 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900671	NM_001025295.3(IFITM5):c.376T>G (p.Phe126Val)	IFITM5 (F126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1702010	NM_001025295.3(IFITM5):c.68C>T (p.Ala23Val)	IFITM5 (A23V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1702009	NM_001025295.3(IFITM5):c.187-10CT[2]	IFITM5, LOC130005046	Microsatellite (intron variant)	Osteogenesis imperfecta	GLikely benign
Select item 1664535	NM_001025295.3(IFITM5):c.190C>A (p.Arg64=)	IFITM5, LOC130005046	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647822	NM_001025295.3(IFITM5):c.86C>T (p.Pro29Leu)	IFITM5 (P29L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1645451	NM_001025295.3(IFITM5):c.270G>A (p.Ala90=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1625528	NM_001025295.3(IFITM5):c.385G>A (p.Ala129Thr)	IFITM5 (A129T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1622683	NM_001025295.3(IFITM5):c.170T>G (p.Leu57Arg)	IFITM5 (L57R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1617920	NM_001025295.3(IFITM5):c.222G>A (p.Ala74=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1611467	NM_001025295.3(IFITM5):c.267C>G (p.Ala89=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602626	NM_001025295.3(IFITM5):c.186+18C>T	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592978	NM_001025295.3(IFITM5):c.262C>T (p.Leu88=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1591969	NM_001025295.3(IFITM5):c.53C>T (p.Ala18Val)	IFITM5 (A18V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1567769	NM_001025295.3(IFITM5):c.21C>G (p.Arg7=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563813	NM_001025295.3(IFITM5):c.34G>T (p.Ala12Ser)	IFITM5 (A12S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1561543	NM_001025295.3(IFITM5):c.106_108del (p.His36del)	IFITM5 (H36del)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1539704	NM_001025295.3(IFITM5):c.42G>A (p.Thr14=)	IFITM5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 1538567	NM_001025295.3(IFITM5):c.295C>T (p.Leu99=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533820	NM_001025295.3(IFITM5):c.288G>A (p.Pro96=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532377	NM_001025295.3(IFITM5):c.95C>T (p.Pro32Leu)	IFITM5 (P32L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1529467	NM_001025295.3(IFITM5):c.337C>T (p.Arg113Trp)	IFITM5 (R113W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1517862	NM_001025295.3(IFITM5):c.338G>A (p.Arg113Gln)	IFITM5 (R113Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1498162	NM_001025295.3(IFITM5):c.229C>T (p.Arg77Cys)	IFITM5 (R77C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496267	NM_001025295.3(IFITM5):c.142A>G (p.Asn48Asp)	IFITM5 (N48D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1493613	NM_001025295.3(IFITM5):c.142A>C (p.Asn48His)	IFITM5 (N48H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477760	NM_001025295.3(IFITM5):c.230G>A (p.Arg77His)	IFITM5 (R77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1474655	NM_001025295.3(IFITM5):c.149G>A (p.Cys50Tyr)	IFITM5 (C50Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472957	NM_001025295.3(IFITM5):c.386C>T (p.Ala129Val)	IFITM5 (A129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471194	NM_001025295.3(IFITM5):c.143_149del (p.Asn48fs)	IFITM5 (N48fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1469358	NM_001025295.3(IFITM5):c.32G>C (p.Arg11Pro)	IFITM5 (R11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1416624	NM_001025295.3(IFITM5):c.55G>A (p.Gly19Ser)	IFITM5 (G19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413031	NM_001025295.3(IFITM5):c.95C>G (p.Pro32Arg)	IFITM5 (P32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410009	NC_000011.9:g.(?_216698)_(299504_?)dup	PSMD13, IFITM5 +3 more	Duplication	not provided	GUncertain significance
Select item 1408481	NM_001025295.3(IFITM5):c.32G>A (p.Arg11Gln)	IFITM5 (R11Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401251	NM_001025295.3(IFITM5):c.242A>G (p.Lys81Arg)	IFITM5 (K81R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1391428	NM_001025295.3(IFITM5):c.191G>C (p.Arg64Pro)	IFITM5, LOC130005046 (R64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376055	NM_001025295.3(IFITM5):c.251G>A (p.Cys84Tyr)	IFITM5 (C84Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1333457	NM_001025295.3(IFITM5):c.143A>G (p.Asn48Ser)	IFITM5 (N48S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 5	GUncertain significance
Select item 1310810	NM_001025295.3(IFITM5):c.39del (p.Thr14fs)	IFITM5 (T14fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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