ClinVar for Gene (Select 5903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372892	NM_006267.5(RANBP2):c.8114A>G (p.Asp2705Gly)	RANBP2 (D2704G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372411	NM_006267.5(RANBP2):c.1640A>G (p.Asn547Ser)	RANBP2 (N546S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372248	NM_006267.5(RANBP2):c.1411C>T (p.Leu471Phe)	RANBP2 (L470F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369521	NM_022336.4(EDAR):c.1044_1046del (p.Pro349del)	EDAR, RANBP2 (P349del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3369019	NM_006267.5(RANBP2):c.1836G>T (p.Leu612Phe)	RANBP2 (L611F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368959	NM_006267.5(RANBP2):c.1300C>A (p.Leu434Ile)	RANBP2 (L433I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368638	NM_006267.5(RANBP2):c.1440T>A (p.Cys480Ter)	RANBP2 (C479* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368111	NM_006267.5(RANBP2):c.2151_2164del (p.Leu718fs)	RANBP2 (L717fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3367367	NM_006267.5(RANBP2):c.5650T>A (p.Ser1884Thr)	RANBP2 (S1883T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365156	NM_006267.5(RANBP2):c.970T>G (p.Phe324Val)	RANBP2 (F323V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364393	NM_006267.5(RANBP2):c.270C>A (p.Asn90Lys)	RANBP2 (N89K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364266	NM_006267.5(RANBP2):c.821G>A (p.Gly274Glu)	RANBP2 (G273E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363937	NM_006267.5(RANBP2):c.6043C>G (p.Pro2015Ala)	RANBP2 (P2014A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363859	NM_006267.5(RANBP2):c.7460_7474delinsCAG (p.Asp2487_Thr2492delinsAlaAla)	RANBP2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3363577	NM_006267.5(RANBP2):c.3076A>G (p.Thr1026Ala)	RANBP2 (T1025A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363248	NM_006267.5(RANBP2):c.2831T>C (p.Leu944Ser)	RANBP2 (L943S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361929	NM_006267.5(RANBP2):c.3548A>T (p.Glu1183Val)	RANBP2 (E1182V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361547	NM_006267.5(RANBP2):c.178C>T (p.Pro60Ser)	RANBP2 (P59S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350308	NM_022336.4(EDAR):c.964-7_964-6del	EDAR, RANBP2	Deletion (intron variant)	EDAR-related disorder	GUncertain significance
Select item 3343866	NM_006267.5(RANBP2):c.1234C>T (p.Arg412Ter)	RANBP2 (R411* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343615	NM_006267.5(RANBP2):c.9551_9552del (p.Asp3183_Phe3184insTer)	RANBP2	Deletion (nonsense)	not provided	GUncertain significance
Select item 3343533	NM_006267.5(RANBP2):c.7940T>G (p.Leu2647Arg)	RANBP2 (L2646R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343372	NM_006267.5(RANBP2):c.782+1G>T	RANBP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3341133	NM_022336.4(EDAR):c.346T>C (p.Cys116Arg)	EDAR, RANBP2 (C116R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3339226	NM_006267.5(RANBP2):c.3292A>G (p.Thr1098Ala)	RANBP2 (T1097A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3312698	NM_006267.5(RANBP2):c.5203G>A (p.Val1735Ile)	RANBP2 (V1735I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312697	NM_006267.5(RANBP2):c.3309C>G (p.Ser1103Arg)	RANBP2 (S1103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312696	NM_006267.5(RANBP2):c.3076A>T (p.Thr1026Ser)	RANBP2 (T1026S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312695	NM_006267.5(RANBP2):c.5563A>G (p.Thr1855Ala)	RANBP2 (T1854A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312693	NM_006267.5(RANBP2):c.4383G>C (p.Gln1461His)	RANBP2 (Q1460H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312692	NM_006267.5(RANBP2):c.4374A>C (p.Lys1458Asn)	RANBP2 (K1458N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312691	NM_006267.5(RANBP2):c.8323A>G (p.Thr2775Ala)	RANBP2 (T2774A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312690	NM_006267.5(RANBP2):c.7282G>A (p.Val2428Ile)	RANBP2 (V2428I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312689	NM_006267.5(RANBP2):c.6955C>A (p.Leu2319Ile)	RANBP2 (L2318I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312688	NM_006267.5(RANBP2):c.8480C>T (p.Thr2827Ile)	RANBP2 (T2827I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312687	NM_006267.5(RANBP2):c.6410A>G (p.Gln2137Arg)	RANBP2 (Q2136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312686	NM_006267.5(RANBP2):c.4961C>A (p.Pro1654Gln)	RANBP2 (P1654Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312685	NM_006267.5(RANBP2):c.6950C>G (p.Pro2317Arg)	RANBP2 (P2317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312684	NM_006267.5(RANBP2):c.412C>G (p.Leu138Val)	RANBP2 (L137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312683	NM_006267.5(RANBP2):c.8306A>C (p.Glu2769Ala)	RANBP2 (E2795A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312682	NM_006267.5(RANBP2):c.3202G>T (p.Gly1068Cys)	RANBP2 (G1067C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312681	NM_006267.5(RANBP2):c.1204G>C (p.Gly402Arg)	RANBP2 (G402R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312680	NM_006267.5(RANBP2):c.8129G>A (p.Cys2710Tyr)	RANBP2 (C2709Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312679	NM_006267.5(RANBP2):c.333T>A (p.Asp111Glu)	RANBP2 (D110E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312678	NM_006267.5(RANBP2):c.5792A>G (p.Lys1931Arg)	RANBP2 (K1931R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312676	NM_006267.5(RANBP2):c.7870G>C (p.Glu2624Gln)	RANBP2 (E2623Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312675	NM_006267.5(RANBP2):c.3950A>G (p.Asn1317Ser)	RANBP2 (N1317S +1 more)	Single nucleotide variant (missense variant)	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 3253344	NM_006267.5(RANBP2):c.9656C>G (p.Thr3219Arg)	RANBP2 (T3218R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252871	NM_006267.5(RANBP2):c.8684A>T (p.Glu2895Val)	RANBP2 (E2894V +3 more)	Single nucleotide variant (missense variant)	not provided	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 3247345	NC_000002.11:g.(?_109368307)_(109579739_?)del	CCDC138, EDAR +1 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3242095	NM_006267.5(RANBP2):c.7795T>C (p.Ser2599Pro)	RANBP2 (S2598P +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	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

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