60509[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 3040179	NM_021831.6(AGBL5):c.-2C>T	AGBL5	Single nucleotide variant (5 prime UTR variant +1 more)	AGBL5-related disorder	GLikely benign
Select item 1060630	NM_021831.6(AGBL5):c.10C>T (p.Arg4Cys)	AGBL5 (R4C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2003286	NM_021831.6(AGBL5):c.18G>T (p.Gly6=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1026284	NM_021831.6(AGBL5):c.19G>A (p.Gly7Arg)	AGBL5 (G7R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1161220	NM_021831.6(AGBL5):c.22T>C (p.Leu8=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1637782	NM_021831.6(AGBL5):c.27G>A (p.Leu9=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3095277	NM_021831.6(AGBL5):c.32G>A (p.Ser11Asn)	AGBL5 (S11N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 965490	NM_021831.6(AGBL5):c.35C>T (p.Ser12Phe)	AGBL5 (S12F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 751443	NM_021831.6(AGBL5):c.48A>G (p.Ser16=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1020464	NM_021831.6(AGBL5):c.53A>G (p.Asn18Ser)	AGBL5 (N18S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028753	NM_021831.6(AGBL5):c.61C>T (p.His21Tyr)	AGBL5 (H21Y)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1116133	NM_021831.6(AGBL5):c.63C>T (p.His21=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409712	NM_021831.6(AGBL5):c.74T>C (p.Val25Ala)	AGBL5 (V25A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 853560	NM_021831.6(AGBL5):c.78A>C (p.Glu26Asp)	AGBL5 (E26D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 953380	NM_021831.6(AGBL5):c.85T>A (p.Ser29Thr)	AGBL5 (S29T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083877	NM_021831.6(AGBL5):c.88A>G (p.Ser30Gly)	AGBL5 (S30G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2542578	NM_021831.6(AGBL5):c.89G>A (p.Ser30Asn)	AGBL5 (S30N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1502550	NM_021831.6(AGBL5):c.91G>C (p.Asp31His)	AGBL5 (D31H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028754	NM_021831.6(AGBL5):c.93T>A (p.Asp31Glu)	AGBL5 (D31E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1367000	NM_021831.6(AGBL5):c.107G>C (p.Gly36Ala)	AGBL5 (G36A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026337	NM_021831.6(AGBL5):c.111T>C (p.Gly37=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518623	NM_021831.6(AGBL5):c.116C>T (p.Ala39Val)	AGBL5 (A39V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918381	NM_021831.6(AGBL5):c.117G>A (p.Ala39=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079597	NM_021831.6(AGBL5):c.133G>A (p.Gly45Ser)	AGBL5 (G45S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1391360	NM_021831.6(AGBL5):c.143dup (p.Ser49fs)	AGBL5 (S49fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 846344	NM_021831.6(AGBL5):c.149C>T (p.Pro50Leu)	AGBL5 (P50L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1149761	NM_021831.6(AGBL5):c.153C>T (p.Asp51=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779613	NM_021831.6(AGBL5):c.156T>C (p.Tyr52=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1041566	NM_021831.6(AGBL5):c.159A>T (p.Glu53Asp)	AGBL5 (E53D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1176088	NM_021831.6(AGBL5):c.163A>T (p.Asn55Tyr)	AGBL5 (N55Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1965012	NM_021831.6(AGBL5):c.166G>C (p.Val56Leu)	AGBL5 (V56L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1076597	NM_021831.6(AGBL5):c.175C>T (p.Arg59Ter)	AGBL5 (R59*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1521993	NM_021831.6(AGBL5):c.176G>T (p.Arg59Leu)	AGBL5 (R59L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 942994	NM_021831.6(AGBL5):c.176G>A (p.Arg59Gln)	AGBL5 (R59Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028755	NM_021831.6(AGBL5):c.194C>T (p.Thr65Met)	AGBL5 (T65M)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1378712	NM_021831.6(AGBL5):c.215+4T>C	AGBL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2088880	NM_021831.6(AGBL5):c.215+5A>G	AGBL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2983145	NM_021831.6(AGBL5):c.215+7G>A	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1106017	NM_021831.6(AGBL5):c.215+10A>T	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635209	NM_021831.6(AGBL5):c.215+11C>T	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657813	NM_021831.6(AGBL5):c.215+17G>A	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165572	NM_021831.6(AGBL5):c.215+20G>A	AGBL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1665053	NM_021831.6(AGBL5):c.216-14dup	AGBL5	Duplication (intron variant)	not provided	GLikely benign
Select item 1629167	NM_021831.6(AGBL5):c.216-15T>C	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088337	NM_021831.6(AGBL5):c.216-5C>G	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667399	NM_021831.6(AGBL5):c.216-5C>T	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1000266	NM_021831.6(AGBL5):c.226T>C (p.Tyr76His)	AGBL5 (Y76H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1613858	NM_021831.6(AGBL5):c.234C>T (p.Ser78=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1043679	NM_021831.6(AGBL5):c.235G>A (p.Val79Ile)	AGBL5 (V79I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028756	NM_021831.6(AGBL5):c.238C>T (p.Arg80Trp)	AGBL5 (R80W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 967211	NM_021831.6(AGBL5):c.239G>A (p.Arg80Gln)	AGBL5 (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1123071	NM_021831.6(AGBL5):c.240G>A (p.Arg80=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1423877	NM_021831.6(AGBL5):c.241G>A (p.Gly81Arg)	AGBL5 (G81R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461592	NM_021831.6(AGBL5):c.253G>C (p.Gly85Arg)	AGBL5 (G85R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 836411	NM_021831.6(AGBL5):c.258A>T (p.Lys86Asn)	AGBL5 (K86N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3028757	NM_021831.6(AGBL5):c.259C>G (p.Leu87Val)	AGBL5 (L87V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1512212	NM_021831.6(AGBL5):c.266A>G (p.Lys89Arg)	AGBL5 (K89R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1530991	NM_021831.6(AGBL5):c.270C>T (p.Ile90=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830562	NM_021831.6(AGBL5):c.273C>T (p.Asn91=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2096374	NM_021831.6(AGBL5):c.288C>T (p.Asn96=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2236773	NM_021831.6(AGBL5):c.307T>G (p.Ser103Ala)	AGBL5 (S103A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 916722	NM_021831.6(AGBL5):c.313_319del (p.Gly105fs)	AGBL5 (G105fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 75	GLikely pathogenic
Select item 2879141	NM_021831.6(AGBL5):c.315C>A (p.Gly105=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1184585	NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg)	AGBL5 (P108R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75	GLikely pathogenic
Select item 1038147	NM_021831.6(AGBL5):c.331C>T (p.Arg111Cys)	AGBL5 (R111C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 866311	NM_021831.6(AGBL5):c.332G>A (p.Arg111His)	AGBL5 (R111H)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 2988916	NM_021831.6(AGBL5):c.339G>A (p.Leu113=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1468575	NM_021831.6(AGBL5):c.347G>T (p.Arg116Leu)	AGBL5 (R116L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958029	NM_021831.6(AGBL5):c.351A>G (p.Pro117=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 845515	NM_021831.6(AGBL5):c.352C>T (p.Arg118Cys)	AGBL5 (R118C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1017912	NM_021831.6(AGBL5):c.353G>A (p.Arg118His)	AGBL5 (R118H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1176089	NM_021831.6(AGBL5):c.356G>A (p.Trp119Ter)	AGBL5 (W119*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 958171	NM_021831.6(AGBL5):c.362G>A (p.Arg121His)	AGBL5 (R121H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 961518	NM_021831.6(AGBL5):c.374G>A (p.Arg125Gln)	AGBL5 (R125Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1556424	NM_021831.6(AGBL5):c.387+12A>C	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784630	NM_021831.6(AGBL5):c.388-16C>T	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1139183	NM_021831.6(AGBL5):c.388-9G>C	AGBL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836112	NM_021831.6(AGBL5):c.388-1G>A	AGBL5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1443464	NM_021831.6(AGBL5):c.398C>T (p.Thr133Met)	AGBL5 (T133M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958865	NM_021831.6(AGBL5):c.399G>A (p.Thr133=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1662343	NM_021831.6(AGBL5):c.402G>A (p.Gln134=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1359913	NM_021831.6(AGBL5):c.406G>A (p.Val136Met)	AGBL5 (V136M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970301	NM_021831.6(AGBL5):c.418G>A (p.Val140Ile)	AGBL5 (V140I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061231	NM_021831.6(AGBL5):c.421dup (p.His141fs)	AGBL5 (H141fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2520502	NM_021831.6(AGBL5):c.424C>T (p.Arg142Cys)	AGBL5 (R142C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2026884	NM_021831.6(AGBL5):c.426T>G (p.Arg142=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762380	NM_021831.6(AGBL5):c.429C>T (p.Phe143=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1371880	NM_021831.6(AGBL5):c.430G>A (p.Val144Met)	AGBL5 (V144M)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 1504103	NM_021831.6(AGBL5):c.437G>A (p.Gly146Asp)	AGBL5 (G146D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481269	NM_021831.6(AGBL5):c.439C>G (p.Arg147Gly)	AGBL5 (R147G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 837462	NM_021831.6(AGBL5):c.439C>T (p.Arg147Cys)	AGBL5 (R147C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1393377	NM_021831.6(AGBL5):c.440G>A (p.Arg147His)	AGBL5 (R147H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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