Related gene-specific medical variations for Gene (Select 5903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321591	NM_023016.4(SOWAHC):c.674G>A (p.Ser225Asn)	RANBP2, SOWAHC (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321590	NM_023016.4(SOWAHC):c.749C>T (p.Ser250Leu)	RANBP2, SOWAHC (S250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321589	NM_023016.4(SOWAHC):c.739G>A (p.Val247Met)	RANBP2, SOWAHC (V247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321588	NM_023016.4(SOWAHC):c.532C>G (p.Leu178Val)	RANBP2, SOWAHC (L178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321587	NM_023016.4(SOWAHC):c.389A>T (p.Gln130Leu)	RANBP2, SOWAHC (Q130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321586	NM_023016.4(SOWAHC):c.165C>G (p.His55Gln)	RANBP2, SOWAHC (H55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318144	NM_001099289.3(SH3RF3):c.2192C>T (p.Ser731Phe)	RANBP2, SH3RF3 (S731F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318143	NM_001099289.3(SH3RF3):c.1307C>T (p.Ser436Phe)	RANBP2, SH3RF3 (S436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318142	NM_001099289.3(SH3RF3):c.1282T>C (p.Cys428Arg)	RANBP2, SH3RF3 (C428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318141	NM_001099289.3(SH3RF3):c.418A>G (p.Ile140Val)	RANBP2, SH3RF3 +1 more (I140V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3318140	NM_001099289.3(SH3RF3):c.1661C>T (p.Pro554Leu)	RANBP2, SH3RF3 (P554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318139	NM_001099289.3(SH3RF3):c.1907G>A (p.Arg636His)	RANBP2, SH3RF3 (R636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318138	NM_001099289.3(SH3RF3):c.101G>A (p.Arg34Gln)	RANBP2, SH3RF3 +1 more (R34Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318137	NM_001099289.3(SH3RF3):c.259T>A (p.Cys87Ser)	RANBP2, SH3RF3 +1 more (C87S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318135	NM_001099289.3(SH3RF3):c.2287G>C (p.Glu763Gln)	RANBP2, SH3RF3 (E763Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318134	NM_001099289.3(SH3RF3):c.2057A>G (p.Asn686Ser)	RANBP2, SH3RF3 (N686S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318133	NM_001099289.3(SH3RF3):c.1249G>A (p.Ala417Thr)	RANBP2, SH3RF3 (A417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318132	NM_001099289.3(SH3RF3):c.1988G>A (p.Arg663Gln)	RANBP2, SH3RF3 (R663Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317472	NM_144710.5(SEPTIN10):c.530A>G (p.Tyr177Cys)	RANBP2, SEPTIN10 (Y135C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317471	NM_144710.5(SEPTIN10):c.542C>T (p.Pro181Leu)	RANBP2, SEPTIN10 (P166L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317470	NM_144710.5(SEPTIN10):c.1343G>T (p.Arg448Leu)	RANBP2, SEPTIN10 (R315L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274469	NM_022336.4(EDAR):c.295G>A (p.Ala99Thr)	EDAR, RANBP2 (A99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274467	NM_022336.4(EDAR):c.214G>A (p.Val72Ile)	EDAR, RANBP2 (V72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263861	NM_144978.3(CCDC138):c.430C>T (p.Arg144Trp)	CCDC138, RANBP2 (R150W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3263860	NM_144978.3(CCDC138):c.415A>G (p.Thr139Ala)	CCDC138, RANBP2 (T139A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3263859	NM_144978.3(CCDC138):c.1398G>C (p.Gln466His)	CCDC138, RANBP2 (Q150H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263858	NM_144978.3(CCDC138):c.1093A>G (p.Ile365Val)	CCDC138, RANBP2 (I371V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263857	NM_144978.3(CCDC138):c.1088A>G (p.Asp363Gly)	CCDC138, RANBP2 (D321G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263855	NM_144978.3(CCDC138):c.21G>C (p.Lys7Asn)	CCDC138, LOC129934529 +1 more (A22P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3263854	NM_144978.3(CCDC138):c.517C>T (p.Leu173Phe)	CCDC138, RANBP2 (L131F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263853	NM_144978.3(CCDC138):c.730A>G (p.Lys244Glu)	CCDC138, RANBP2 (K250E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263852	NM_144978.3(CCDC138):c.156T>A (p.Asp52Glu)	CCDC138, RANBP2 (D52E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3250747	NM_022336.4(EDAR):c.42C>T (p.Pro14=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250522	NM_022336.4(EDAR):c.483C>T (p.Gly161=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3167679	NM_023016.4(SOWAHC):c.866G>A (p.Cys289Tyr)	RANBP2, SOWAHC (C289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167678	NM_023016.4(SOWAHC):c.1553G>C (p.Arg518Thr)	RANBP2, SOWAHC (R518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167676	NM_023016.4(SOWAHC):c.140A>G (p.Glu47Gly)	RANBP2, SOWAHC (E47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167675	NM_023016.4(SOWAHC):c.1212C>A (p.Ser404Arg)	RANBP2, SOWAHC (S404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167674	NM_023016.4(SOWAHC):c.107A>G (p.Gln36Arg)	RANBP2, SOWAHC (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161428	NM_001099289.3(SH3RF3):c.991C>G (p.Pro331Ala)	RANBP2, SH3RF3 (P331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161427	NM_001099289.3(SH3RF3):c.98G>A (p.Arg33His)	RANBP2, SH3RF3 +1 more (R33H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161426	NM_001099289.3(SH3RF3):c.902T>G (p.Met301Arg)	RANBP2, SH3RF3 (M301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161425	NM_001099289.3(SH3RF3):c.709C>T (p.His237Tyr)	RANBP2, SH3RF3 (H237Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161424	NM_001099289.3(SH3RF3):c.544G>T (p.Ala182Ser)	RANBP2, SH3RF3 +1 more (A182S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161423	NM_001099289.3(SH3RF3):c.535C>T (p.Arg179Trp)	RANBP2, SH3RF3 +1 more (R179W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161421	NM_001099289.3(SH3RF3):c.503C>T (p.Ser168Phe)	RANBP2, SH3RF3 +1 more (S168F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161420	NM_001099289.3(SH3RF3):c.389G>T (p.Ser130Ile)	RANBP2, SH3RF3 +1 more (S130I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161419	NM_001099289.3(SH3RF3):c.270C>G (p.His90Gln)	RANBP2, SH3RF3 +1 more (H90Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161418	NM_001099289.3(SH3RF3):c.231C>G (p.Phe77Leu)	RANBP2, SH3RF3 +1 more (F77L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161417	NM_001099289.3(SH3RF3):c.2246A>G (p.Gln749Arg)	RANBP2, SH3RF3 (Q749R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161416	NM_001099289.3(SH3RF3):c.2038G>A (p.Val680Ile)	RANBP2, SH3RF3 (V680I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161415	NM_001099289.3(SH3RF3):c.1987C>T (p.Arg663Trp)	RANBP2, SH3RF3 (R663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161414	NM_001099289.3(SH3RF3):c.1811G>A (p.Arg604Gln)	RANBP2, SH3RF3 (R604Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161413	NM_001099289.3(SH3RF3):c.1747A>G (p.Thr583Ala)	RANBP2, SH3RF3 (T583A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161412	NM_001099289.3(SH3RF3):c.1604G>A (p.Arg535Gln)	RANBP2, SH3RF3 (R535Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161411	NM_001099289.3(SH3RF3):c.1576G>A (p.Val526Met)	RANBP2, SH3RF3 (V526M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161410	NM_001099289.3(SH3RF3):c.1354G>A (p.Val452Met)	RANBP2, SH3RF3 (V452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161409	NM_001099289.3(SH3RF3):c.1252G>T (p.Ala418Ser)	RANBP2, SH3RF3 (A418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161407	NM_001099289.3(SH3RF3):c.1123A>G (p.Asn375Asp)	RANBP2, SH3RF3 (N375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161406	NM_001099289.3(SH3RF3):c.110C>T (p.Ala37Val)	RANBP2, SH3RF3 +1 more (A37V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3161405	NM_001099289.3(SH3RF3):c.1094C>T (p.Ala365Val)	RANBP2, SH3RF3 (A365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161404	NM_001099289.3(SH3RF3):c.1022T>A (p.Leu341Gln)	RANBP2, SH3RF3 (L341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161403	NM_001099289.3(SH3RF3):c.1010G>A (p.Cys337Tyr)	RANBP2, SH3RF3 (C337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160049	NM_144710.5(SEPTIN10):c.932G>T (p.Arg311Leu)	RANBP2, SEPTIN10 (R144L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160048	NM_144710.5(SEPTIN10):c.916A>T (p.Asn306Tyr)	RANBP2, SEPTIN10 (N297Y +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160047	NM_144710.5(SEPTIN10):c.905T>C (p.Leu302Pro)	RANBP2, SEPTIN10 (L112P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160046	NM_144710.5(SEPTIN10):c.896G>A (p.Arg299Gln)	RANBP2, SEPTIN10 (R166Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160045	NM_144710.5(SEPTIN10):c.835C>G (p.Gln279Glu)	RANBP2, SEPTIN10 (Q256E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160044	NM_144710.5(SEPTIN10):c.833G>A (p.Arg278His)	RANBP2, SEPTIN10 (R255H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160043	NM_144710.5(SEPTIN10):c.832C>T (p.Arg278Cys)	RANBP2, SEPTIN10 (R255C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160042	NM_144710.5(SEPTIN10):c.824T>G (p.Val275Gly)	RANBP2, SEPTIN10 (V243G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160041	NM_144710.5(SEPTIN10):c.822G>T (p.Met274Ile)	RANBP2, SEPTIN10 (M107I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160040	NM_144710.5(SEPTIN10):c.811G>A (p.Gly271Arg)	RANBP2, SEPTIN10 (G104R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160039	NM_144710.5(SEPTIN10):c.785T>C (p.Val262Ala)	RANBP2, SEPTIN10 (V220A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160038	NM_144710.5(SEPTIN10):c.777T>G (p.Phe259Leu)	RANBP2, SEPTIN10 (F227L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160037	NM_144710.5(SEPTIN10):c.731A>G (p.Asp244Gly)	RANBP2, SEPTIN10 (D221G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160036	NM_144710.5(SEPTIN10):c.695A>G (p.Asn232Ser)	RANBP2, SEPTIN10 (N190S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160035	NM_144710.5(SEPTIN10):c.67A>G (p.Met23Val)	RANBP2, SEPTIN10 (M23V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3160034	NM_144710.5(SEPTIN10):c.667A>G (p.Ile223Val)	RANBP2, SEPTIN10 (I181V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160033	NM_144710.5(SEPTIN10):c.5C>T (p.Ala2Val)	LOC129934550, RANBP2 +1 more (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3160032	NM_144710.5(SEPTIN10):c.550C>G (p.His184Asp)	RANBP2, SEPTIN10 (H142D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160031	NM_144710.5(SEPTIN10):c.520G>T (p.Val174Leu)	RANBP2, SEPTIN10 (V142L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160030	NM_144710.5(SEPTIN10):c.500A>G (p.Tyr167Cys)	RANBP2, SEPTIN10 (Y152C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160029	NM_144710.5(SEPTIN10):c.458A>G (p.Tyr153Cys)	RANBP2, SEPTIN10 (Y121C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160028	NM_144710.5(SEPTIN10):c.443C>T (p.Ala148Val)	RANBP2, SEPTIN10 (A106V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160027	NM_144710.5(SEPTIN10):c.434A>G (p.Tyr145Cys)	RANBP2, SEPTIN10 (Y130C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160026	NM_144710.5(SEPTIN10):c.329A>G (p.Tyr110Cys)	RANBP2, SEPTIN10 (Y101C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160025	NM_144710.5(SEPTIN10):c.218G>A (p.Gly73Glu)	RANBP2, SEPTIN10 (G58E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160024	NM_144710.5(SEPTIN10):c.16G>A (p.Val6Met)	LOC129934550, RANBP2 +1 more (V6M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3160023	NM_144710.5(SEPTIN10):c.143G>A (p.Gly48Asp)	RANBP2, SEPTIN10 (G16D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160022	NM_144710.5(SEPTIN10):c.127A>G (p.Met43Val)	RANBP2, SEPTIN10 (M11V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160021	NM_144710.5(SEPTIN10):c.1175T>C (p.Phe392Ser)	RANBP2, SEPTIN10 (F199S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160020	NM_144710.5(SEPTIN10):c.116G>A (p.Arg39His)	RANBP2, SEPTIN10 (R16H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160019	NM_144710.5(SEPTIN10):c.1169C>T (p.Ala390Val)	RANBP2, SEPTIN10 (A367V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160018	NM_144710.5(SEPTIN10):c.115C>T (p.Arg39Cys)	RANBP2, SEPTIN10 (R30C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160017	NM_144710.5(SEPTIN10):c.1076G>T (p.Arg359Leu)	RANBP2, SEPTIN10 (R166L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160016	NM_144710.5(SEPTIN10):c.1070G>A (p.Gly357Asp)	RANBP2, SEPTIN10 (G334D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138392	NM_144978.3(CCDC138):c.731A>G (p.Lys244Arg)	CCDC138, RANBP2 (K239R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138391	NM_144978.3(CCDC138):c.607G>A (p.Glu203Lys)	CCDC138, RANBP2 (E161K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138390	NM_144978.3(CCDC138):c.409A>G (p.Asn137Asp)	CCDC138, RANBP2 (N132D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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