ClinVar for Gene (Select 57221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346386	NM_020340.5(ARFGEF3):c.1059C>A (p.Tyr353Ter)	ARFGEF3 (Y353*)	Single nucleotide variant (nonsense)	ARFGEF3-related disorder	GUncertain significance
Select item 3344490	NM_020340.5(ARFGEF3):c.5618G>A (p.Arg1873Lys)	ARFGEF3 (R1873K)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GUncertain significance
Select item 3310439	NM_020340.5(ARFGEF3):c.6374A>G (p.Asn2125Ser)	ARFGEF3 (N2125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310432	NM_020340.5(ARFGEF3):c.6094A>G (p.Arg2032Gly)	ARFGEF3 (R2032G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310420	NM_020340.5(ARFGEF3):c.4156G>C (p.Asp1386His)	ARFGEF3 (D1386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310410	NM_020340.5(ARFGEF3):c.5945G>C (p.Gly1982Ala)	ARFGEF3 (G1982A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310400	NM_020340.5(ARFGEF3):c.6491A>G (p.Glu2164Gly)	ARFGEF3 (E2164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310390	NM_020340.5(ARFGEF3):c.3923G>A (p.Gly1308Asp)	ARFGEF3 (G1308D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310385	NM_020340.5(ARFGEF3):c.5647C>T (p.Arg1883Trp)	ARFGEF3 (R1883W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310374	NM_020340.5(ARFGEF3):c.6216C>G (p.Asp2072Glu)	ARFGEF3 (D2072E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310364	NM_020340.5(ARFGEF3):c.4277T>G (p.Leu1426Arg)	ARFGEF3 (L1426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310356	NM_020340.5(ARFGEF3):c.1745G>A (p.Cys582Tyr)	ARFGEF3 (C582Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310346	NM_020340.5(ARFGEF3):c.982G>A (p.Glu328Lys)	ARFGEF3 (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310335	NM_020340.5(ARFGEF3):c.3319G>T (p.Gly1107Trp)	ARFGEF3 (G1107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310323	NM_020340.5(ARFGEF3):c.2767C>T (p.Arg923Trp)	ARFGEF3 (R923W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310313	NM_020340.5(ARFGEF3):c.3135G>C (p.Lys1045Asn)	ARFGEF3 (K1045N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310302	NM_020340.5(ARFGEF3):c.5419T>C (p.Tyr1807His)	ARFGEF3 (Y1807H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310295	NM_020340.5(ARFGEF3):c.880G>A (p.Ala294Thr)	ARFGEF3 (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310285	NM_020340.5(ARFGEF3):c.5053C>T (p.His1685Tyr)	ARFGEF3 (H1685Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310276	NM_020340.5(ARFGEF3):c.3064G>A (p.Gly1022Ser)	ARFGEF3 (G1022S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310265	NM_020340.5(ARFGEF3):c.5125G>A (p.Val1709Met)	ARFGEF3 (V1709M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310255	NM_020340.5(ARFGEF3):c.1915G>A (p.Asp639Asn)	ARFGEF3 (D639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310245	NM_020340.5(ARFGEF3):c.2045G>T (p.Gly682Val)	ARFGEF3 (G682V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310235	NM_020340.5(ARFGEF3):c.2779G>A (p.Ala927Thr)	ARFGEF3 (A927T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310224	NM_020340.5(ARFGEF3):c.3292G>A (p.Asp1098Asn)	ARFGEF3 (D1098N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252065	NM_020340.5(ARFGEF3):c.3671_3672del (p.His1224fs)	ARFGEF3 (H1224fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3209020	NM_021635.3(PBOV1):c.143T>C (p.Phe48Ser)	ARFGEF3, PBOV1 (F48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128414	NM_020340.5(ARFGEF3):c.857G>A (p.Ser286Asn)	ARFGEF3 (S286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128413	NM_020340.5(ARFGEF3):c.752G>A (p.Arg251His)	ARFGEF3 (R251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128412	NM_020340.5(ARFGEF3):c.6367G>C (p.Val2123Leu)	ARFGEF3 (V2123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128411	NM_020340.5(ARFGEF3):c.6353A>G (p.Asn2118Ser)	ARFGEF3 (N2118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128409	NM_020340.5(ARFGEF3):c.5860G>T (p.Gly1954Cys)	ARFGEF3 (G1954C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128408	NM_020340.5(ARFGEF3):c.5398A>C (p.Ile1800Leu)	ARFGEF3 (I1800L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128407	NM_020340.5(ARFGEF3):c.4538G>A (p.Arg1513His)	ARFGEF3 (R1513H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128406	NM_020340.5(ARFGEF3):c.4537C>T (p.Arg1513Cys)	ARFGEF3 (R1513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128405	NM_020340.5(ARFGEF3):c.4526C>G (p.Ser1509Cys)	ARFGEF3 (S1509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128404	NM_020340.5(ARFGEF3):c.4463C>T (p.Thr1488Met)	ARFGEF3 (T1488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128403	NM_020340.5(ARFGEF3):c.4459G>A (p.Val1487Met)	ARFGEF3 (V1487M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128402	NM_020340.5(ARFGEF3):c.428T>C (p.Ile143Thr)	ARFGEF3 (I143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128401	NM_020340.5(ARFGEF3):c.3933G>C (p.Lys1311Asn)	ARFGEF3 (K1311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128400	NM_020340.5(ARFGEF3):c.3773G>A (p.Arg1258Gln)	ARFGEF3 (R1258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128399	NM_020340.5(ARFGEF3):c.3695T>G (p.Phe1232Cys)	ARFGEF3 (F1232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128397	NM_020340.5(ARFGEF3):c.3241C>T (p.Pro1081Ser)	ARFGEF3 (P1081S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128396	NM_020340.5(ARFGEF3):c.2746G>A (p.Asp916Asn)	ARFGEF3 (D916N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128395	NM_020340.5(ARFGEF3):c.2477A>G (p.Glu826Gly)	ARFGEF3 (E826G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128394	NM_020340.5(ARFGEF3):c.2270G>A (p.Arg757Gln)	ARFGEF3 (R757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128393	NM_020340.5(ARFGEF3):c.2140T>C (p.Ser714Pro)	ARFGEF3 (S714P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128392	NM_020340.5(ARFGEF3):c.2110G>T (p.Ala704Ser)	ARFGEF3 (A704S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128391	NM_020340.5(ARFGEF3):c.2095G>A (p.Ala699Thr)	ARFGEF3 (A699T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128390	NM_020340.5(ARFGEF3):c.2086G>T (p.Val696Leu)	ARFGEF3 (V696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128389	NM_020340.5(ARFGEF3):c.1930C>T (p.Pro644Ser)	ARFGEF3 (P644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128388	NM_020340.5(ARFGEF3):c.1669G>A (p.Val557Ile)	ARFGEF3 (V557I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128387	NM_020340.5(ARFGEF3):c.1576G>A (p.Glu526Lys)	ARFGEF3 (E526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128386	NM_020340.5(ARFGEF3):c.1237G>A (p.Glu413Lys)	ARFGEF3 (E413K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128385	NM_020340.5(ARFGEF3):c.1180A>G (p.Ile394Val)	ARFGEF3 (I394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128384	NM_020340.5(ARFGEF3):c.1172A>G (p.Lys391Arg)	ARFGEF3 (K391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128383	NM_020340.5(ARFGEF3):c.1115G>T (p.Ser372Ile)	ARFGEF3 (S372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128382	NM_020340.5(ARFGEF3):c.1066C>T (p.Pro356Ser)	ARFGEF3 (P356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128381	NM_020340.5(ARFGEF3):c.1000G>A (p.Gly334Arg)	ARFGEF3 (G334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3060737	NM_020340.5(ARFGEF3):c.3387G>A (p.Thr1129=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3060331	NM_020340.5(ARFGEF3):c.2065T>G (p.Ser689Ala)	ARFGEF3 (S689A)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 3060241	NM_020340.5(ARFGEF3):c.4938G>A (p.Ala1646=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3058221	NM_020340.5(ARFGEF3):c.5410G>A (p.Ala1804Thr)	ARFGEF3 (A1804T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057190	NM_020340.5(ARFGEF3):c.4766+10T>C	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GBenign
Select item 3056917	NM_020340.5(ARFGEF3):c.5956C>T (p.Leu1986=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3056860	NM_020340.5(ARFGEF3):c.4785G>A (p.Ala1595=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3056392	NM_020340.5(ARFGEF3):c.4652-5C>T	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GBenign
Select item 3056230	NM_020340.5(ARFGEF3):c.3060C>T (p.Tyr1020=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3056200	NM_020340.5(ARFGEF3):c.4662C>T (p.Tyr1554=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3055885	NM_020340.5(ARFGEF3):c.5001+10G>T	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GBenign
Select item 3055768	NM_020340.5(ARFGEF3):c.3321G>A (p.Gly1107=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3055398	NM_020340.5(ARFGEF3):c.4968C>T (p.Ala1656=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3052686	NM_020340.5(ARFGEF3):c.948A>G (p.Gly316=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3052025	NM_020340.5(ARFGEF3):c.2786-6C>G	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GLikely benign
Select item 3050958	NM_020340.5(ARFGEF3):c.3942G>A (p.Met1314Ile)	ARFGEF3 (M1314I)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GLikely benign
Select item 3050012	NM_020340.5(ARFGEF3):c.4539C>G (p.Arg1513=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3049900	NM_020340.5(ARFGEF3):c.4770C>T (p.Tyr1590=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3049634	NM_020340.5(ARFGEF3):c.656C>T (p.Ala219Val)	ARFGEF3 (A219V)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 3049593	NM_020340.5(ARFGEF3):c.2785+5C>A	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GLikely benign
Select item 3049539	NM_020340.5(ARFGEF3):c.5730A>G (p.Glu1910=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3048521	NM_020340.5(ARFGEF3):c.3318C>T (p.Ser1106=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3045228	NM_020340.5(ARFGEF3):c.6407C>G (p.Thr2136Arg)	ARFGEF3 (T2136R)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GLikely benign
Select item 3043464	NM_020340.5(ARFGEF3):c.6003G>A (p.Arg2001=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3042271	NM_020340.5(ARFGEF3):c.1644G>A (p.Leu548=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3041933	NM_020340.5(ARFGEF3):c.1896G>A (p.Ser632=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3041335	NM_020340.5(ARFGEF3):c.137+4G>A	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GBenign
Select item 3041206	NM_020340.5(ARFGEF3):c.2787C>T (p.Gly929=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3040972	NM_020340.5(ARFGEF3):c.4275A>G (p.Arg1425=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3040522	NM_020340.5(ARFGEF3):c.3039C>T (p.His1013=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3038377	NM_020340.5(ARFGEF3):c.3648+7A>C	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GBenign
Select item 3035912	NM_020340.5(ARFGEF3):c.1472C>T (p.Thr491Met)	ARFGEF3 (T491M)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 3035392	NM_020340.5(ARFGEF3):c.5279G>C (p.Arg1760Thr)	ARFGEF3 (R1760T)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 3035248	NM_020340.5(ARFGEF3):c.265G>T (p.Asp89Tyr)	ARFGEF3 (D89Y)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GLikely benign
Select item 3035094	NM_020340.5(ARFGEF3):c.657C>T (p.Ala219=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3035038	NM_020340.5(ARFGEF3):c.4097-8G>A	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GLikely benign
Select item 3034440	NM_020340.5(ARFGEF3):c.5626_5628del (p.Glu1876del)	ARFGEF3 (E1876del)	Deletion	ARFGEF3-related disorder	GLikely benign
Select item 3034386	NM_020340.5(ARFGEF3):c.737T>C (p.Met246Thr)	ARFGEF3 (M246T)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GLikely benign
Select item 2656940	NM_020340.5(ARFGEF3):c.4141G>A (p.Gly1381Arg)	ARFGEF3 (G1381R)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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