10564[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 667986	NM_006420.2(ARFGEF2):c.-330A>G	ARFGEF2	Single nucleotide variant	not provided	GBenign
Select item 1214235	NC_000020.11:g.48921698G>A	ARFGEF2	Single nucleotide variant	not provided	GLikely benign
Select item 338676	NM_006420.3(ARFGEF2):c.-94C>T	LOC130066080, ARFGEF2	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 338677	NM_006420.3(ARFGEF2):c.-68C>A	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338678	NM_006420.3(ARFGEF2):c.-60C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338679	NM_006420.3(ARFGEF2):c.-43G>A	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	ARFGEF2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 896552	NM_006420.3(ARFGEF2):c.-39C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418016	NM_006420.3(ARFGEF2):c.-24_-1del	LOC130066080, ARFGEF2	Deletion (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 377496	NM_006420.3(ARFGEF2):c.-27G>A	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516307	NM_006420.3(ARFGEF2):c.-25C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 338680	NM_006420.3(ARFGEF2):c.-5G>A	ARFGEF2	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 1947448	NM_006420.3(ARFGEF2):c.39G>A (p.Arg13=)	ARFGEF2, LOC130066081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337388	NM_006420.3(ARFGEF2):c.48G>A (p.Glu16=)	ARFGEF2, LOC130066081	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2728906	NM_006420.3(ARFGEF2):c.51G>A (p.Lys17=)	ARFGEF2, LOC130066081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128444	NM_006420.3(ARFGEF2):c.79C>T (p.Pro27Ser)	ARFGEF2, LOC130066081 (P27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707703	NM_006420.3(ARFGEF2):c.81C>G (p.Pro27=)	ARFGEF2, LOC130066081	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GBenign/Likely benign
Select item 2585457	NM_006420.3(ARFGEF2):c.91C>T (p.Gln31Ter)	ARFGEF2 (Q31*)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely pathogenic
Select item 434269	NM_006420.3(ARFGEF2):c.103G>A (p.Ala35Thr)	ARFGEF2 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1946895	NM_006420.3(ARFGEF2):c.108C>T (p.Cys36=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023849	NM_006420.3(ARFGEF2):c.120C>A (p.Leu40=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1902824	NM_006420.3(ARFGEF2):c.121+12G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216921	NM_006420.3(ARFGEF2):c.121+207C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217561	NM_006420.3(ARFGEF2):c.153-32C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930657	NM_006420.3(ARFGEF2):c.153-17T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3128368	NM_006420.3(ARFGEF2):c.154C>T (p.Leu52Phe)	ARFGEF2 (L52F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 898181	NM_006420.3(ARFGEF2):c.158G>T (p.Gly53Val)	ARFGEF2 (G53V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 2731251	NM_006420.3(ARFGEF2):c.168A>G (p.Ala56=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128433	NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)	ARFGEF2 (P57S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 210226	NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser)	ARFGEF2 (P58S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1336536	NM_006420.3(ARFGEF2):c.178G>A (p.Ala60Thr)	ARFGEF2 (A60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128369	NM_006420.3(ARFGEF2):c.187A>G (p.Ile63Val)	ARFGEF2 (I63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1356628	NM_006420.3(ARFGEF2):c.188T>C (p.Ile63Thr)	ARFGEF2 (I63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679556	NM_006420.3(ARFGEF2):c.242C>A (p.Pro81Gln)	ARFGEF2 (P81Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 5051	NM_006420.3(ARFGEF2):c.[242C>A;247_249delinsTT]	ARFGEF2 (P81Q +1 more)	Single nucleotide variant (missense variant +1 more)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 1679557	NM_006420.3(ARFGEF2):c.247_249delinsTT (p.Val83fs)	ARFGEF2 (V83fs)	Indel (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2057318	NM_006420.3(ARFGEF2):c.260C>G (p.Ser87Cys)	ARFGEF2 (S87C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1360650	NM_006420.3(ARFGEF2):c.276+6A>G	ARFGEF2	Single nucleotide variant (intron variant)	ARFGEF2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1196766	NM_006420.3(ARFGEF2):c.276+99T>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211290	NM_006420.3(ARFGEF2):c.276+106G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673283	NM_006420.3(ARFGEF2):c.276+329del	ARFGEF2	Deletion (intron variant)	not provided	GBenign
Select item 1257451	NM_006420.3(ARFGEF2):c.277-121C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205700	NM_006420.3(ARFGEF2):c.277-70G>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670369	NM_006420.3(ARFGEF2):c.277-59C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 434270	NM_006420.3(ARFGEF2):c.284T>C (p.Ile95Thr)	ARFGEF2 (I95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 515718	NM_006420.3(ARFGEF2):c.285C>T (p.Ile95=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514504	NM_006420.3(ARFGEF2):c.291C>T (p.Tyr97=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2720413	NM_006420.3(ARFGEF2):c.321T>C (p.Ser107=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721164	NM_006420.3(ARFGEF2):c.330T>G (p.Pro110=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016951	NM_006420.3(ARFGEF2):c.335A>G (p.Lys112Arg)	ARFGEF2 (K112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813556	NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln)	ARFGEF2 (R113Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128440	NM_006420.3(ARFGEF2):c.423+3A>G	ARFGEF2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 679352	NM_006420.3(ARFGEF2):c.424-130C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382225	NM_006420.3(ARFGEF2):c.424-17G>A	ARFGEF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 136418	NM_006420.3(ARFGEF2):c.424-16C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2078931	NM_006420.3(ARFGEF2):c.424-13A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016005	NM_006420.3(ARFGEF2):c.453C>T (p.His151=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898182	NM_006420.3(ARFGEF2):c.454A>G (p.Ile152Val)	ARFGEF2 (I152V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 2078740	NM_006420.3(ARFGEF2):c.460A>G (p.Ile154Val)	ARFGEF2 (I154V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767102	NM_006420.3(ARFGEF2):c.489G>A (p.Val163=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 210244	NM_006420.3(ARFGEF2):c.493A>G (p.Thr165Ala)	ARFGEF2 (T165A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2004841	NM_006420.3(ARFGEF2):c.562C>T (p.Gln188Ter)	ARFGEF2 (Q188*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1919013	NM_006420.3(ARFGEF2):c.573C>T (p.Asn191=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 434271	NM_006420.3(ARFGEF2):c.586C>T (p.Arg196Cys)	ARFGEF2 (R196C)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 2154225	NM_006420.3(ARFGEF2):c.587G>A (p.Arg196His)	ARFGEF2 (R196H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956093	NM_006420.3(ARFGEF2):c.603+18C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215381	NM_006420.3(ARFGEF2):c.603+259TTTC[4]	ARFGEF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1215723	NM_006420.3(ARFGEF2):c.603+285_603+298del	ARFGEF2	Deletion (intron variant)	not provided	GLikely benign
Select item 1227261	NM_006420.3(ARFGEF2):c.603+282T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206623	NM_006420.3(ARFGEF2):c.604-35C>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2199323	NM_006420.3(ARFGEF2):c.604-20C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974618	NM_006420.3(ARFGEF2):c.615C>T (p.Ala205=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5050	NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)	ARFGEF2 (E209K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 183282	NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)	ARFGEF2 (V220fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2287584	NM_006420.3(ARFGEF2):c.656C>T (p.Pro219Leu)	ARFGEF2 (P219L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332968	NM_006420.3(ARFGEF2):c.694C>G (p.Arg232Gly)	ARFGEF2 (R232G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 898183	NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys)	ARFGEF2 (R232C)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 338681	NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His)	ARFGEF2 (R232H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 898184	NM_006420.3(ARFGEF2):c.699G>A (p.Leu233=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 2058717	NM_006420.3(ARFGEF2):c.706A>T (p.Ser236Cys)	ARFGEF2 (S236C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312024	NM_006420.3(ARFGEF2):c.710A>G (p.Gln237Arg)	ARFGEF2 (Q237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194773	NM_006420.3(ARFGEF2):c.719G>A (p.Ser240Asn)	ARFGEF2 (S240N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439149	NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg)	ARFGEF2 (T243R)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 2477037	NM_006420.3(ARFGEF2):c.737A>T (p.Glu246Val)	ARFGEF2 (E246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196589	NM_006420.3(ARFGEF2):c.754A>T (p.Asn252Tyr)	ARFGEF2 (N252Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434272	NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +2 more	GBenign/Likely benign
Select item 128443	NM_006420.3(ARFGEF2):c.756C>A (p.Asn252Lys)	ARFGEF2 (N252K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315028	NM_006420.3(ARFGEF2):c.757G>A (p.Gly253Ser)	ARFGEF2 (G253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506913	NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys)	ARFGEF2 (R257K)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2178724	NM_006420.3(ARFGEF2):c.777T>C (p.Asp259=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128445	NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 210246	NM_006420.3(ARFGEF2):c.808G>A (p.Ala270Thr)	ARFGEF2 (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2040514	NM_006420.3(ARFGEF2):c.810A>G (p.Ala270=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128446	NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)	ARFGEF2 (P271A)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 2232349	NM_006420.3(ARFGEF2):c.815G>A (p.Arg272Lys)	ARFGEF2 (R272K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764189	NM_006420.3(ARFGEF2):c.834G>A (p.Leu278=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355518	NM_006420.3(ARFGEF2):c.838+10G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037797	NM_006420.3(ARFGEF2):c.838+15G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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