C1842563[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Periventricular heterotopia with microcephaly, autosomal recessive +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 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 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 128433	NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)	ARFGEF2 (P57S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 5050	NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)	ARFGEF2 (E209K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 128446	NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)	ARFGEF2 (P271A)	Single nucleotide variant (missense variant)	ARFGEF2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 338682	NM_006420.3(ARFGEF2):c.847G>A (p.Asp283Asn)	ARFGEF2 (D283N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 338683	NM_006420.3(ARFGEF2):c.1030A>C (p.Arg344=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 338684	NM_006420.3(ARFGEF2):c.1064C>T (p.Ser355Leu)	ARFGEF2 (S355L)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 899289	NM_006420.3(ARFGEF2):c.1155C>T (p.Ser385=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338685	NM_006420.3(ARFGEF2):c.1182A>G (p.Pro394=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 899290	NM_006420.3(ARFGEF2):c.1204C>T (p.Arg402Cys)	ARFGEF2 (R402C)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895198	NM_006420.3(ARFGEF2):c.1240G>C (p.Val414Leu)	ARFGEF2 (V414L)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895199	NM_006420.3(ARFGEF2):c.1247A>C (p.Gln416Pro)	ARFGEF2 (Q416P)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 128427	NM_006420.3(ARFGEF2):c.1275C>T (p.His425=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 338686	NM_006420.3(ARFGEF2):c.1294A>G (p.Ile432Val)	ARFGEF2 (I432V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 895200	NM_006420.3(ARFGEF2):c.1299G>A (p.Lys433=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 718061	NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 338687	NM_006420.3(ARFGEF2):c.1425+11C>T	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GBenign/Likely benign
Select item 338688	NM_006420.3(ARFGEF2):c.1425+15G>A	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 338689	NM_006420.3(ARFGEF2):c.1497C>T (p.Val499=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896611	NM_006420.3(ARFGEF2):c.1498A>G (p.Ile500Val)	ARFGEF2 (I500V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338690	NM_006420.3(ARFGEF2):c.1585A>G (p.Ile529Val)	ARFGEF2 (I529V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 128432	NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 896612	NM_006420.3(ARFGEF2):c.1665+7A>C	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896613	NM_006420.3(ARFGEF2):c.1834C>T (p.Arg612Trp)	ARFGEF2 (R612W)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 210228	NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)	ARFGEF2 (V630I)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 896614	NM_006420.3(ARFGEF2):c.1926A>G (p.Gln642=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338691	NM_006420.3(ARFGEF2):c.2071-10T>C	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898238	NM_006420.3(ARFGEF2):c.2133C>T (p.Tyr711=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898239	NM_006420.3(ARFGEF2):c.2147A>G (p.Asp716Gly)	ARFGEF2 (D716G)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898240	NM_006420.3(ARFGEF2):c.2250C>T (p.Ala750=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898241	NM_006420.3(ARFGEF2):c.2251G>T (p.Ala751Ser)	ARFGEF2 (A751S)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 210231	NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 898242	NM_006420.3(ARFGEF2):c.2276+10G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898243	NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln)	ARFGEF2 (R853Q)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 434282	NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 338693	NM_006420.3(ARFGEF2):c.2658C>T (p.His886=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128434	NM_006420.3(ARFGEF2):c.2686-9C>T	ARFGEF2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128435	NM_006420.3(ARFGEF2):c.2815-7G>A	ARFGEF2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 899354	NM_006420.3(ARFGEF2):c.2815-5T>A	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338694	NM_006420.3(ARFGEF2):c.2831A>T (p.Tyr944Phe)	ARFGEF2 (Y944F)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338695	NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg)	ARFGEF2 (G1016R)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GUncertain significance
Select item 210234	NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 128436	NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 895253	NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys)	ARFGEF2 (R1092C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 210235	NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His)	ARFGEF2 (R1092H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 895254	NM_006420.3(ARFGEF2):c.3318C>T (p.His1106=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 434286	NM_006420.3(ARFGEF2):c.3456T>C (p.Asp1152=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 338696	NM_006420.3(ARFGEF2):c.3507T>G (p.Leu1169=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 128437	NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 210239	NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)	ARFGEF2 (G1298S)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 338697	NM_006420.3(ARFGEF2):c.3900C>T (p.Tyr1300=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896690	NM_006420.3(ARFGEF2):c.3945C>T (p.Asp1315=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338698	NM_006420.3(ARFGEF2):c.4061T>C (p.Val1354Ala)	ARFGEF2 (V1354A)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 128438	NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 896691	NM_006420.3(ARFGEF2):c.4180-13T>C	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896692	NM_006420.3(ARFGEF2):c.4219T>A (p.Tyr1407Asn)	ARFGEF2 (Y1407N)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338699	NM_006420.3(ARFGEF2):c.4315+5T>G	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 338700	NM_006420.3(ARFGEF2):c.4316-12T>C	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 210241	NM_006420.3(ARFGEF2):c.4332G>A (p.Ala1444=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 798173	NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)	ARFGEF2 (N1449T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897141	NM_006420.3(ARFGEF2):c.4348T>A (p.Cys1450Ser)	ARFGEF2 (C1450S)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338701	NM_006420.3(ARFGEF2):c.4373A>G (p.Asn1458Ser)	ARFGEF2 (N1458S)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 128441	NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)	ARFGEF2 (T1488S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338702	NM_006420.3(ARFGEF2):c.4480A>G (p.Met1494Val)	ARFGEF2 (M1494V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 338703	NM_006420.3(ARFGEF2):c.4526G>A (p.Arg1509His)	ARFGEF2 (R1509H)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 897142	NM_006420.3(ARFGEF2):c.4732G>C (p.Ala1578Pro)	ARFGEF2 (A1578P)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338704	NM_006420.3(ARFGEF2):c.4924+13A>G	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338705	NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile)	ARFGEF2 (T1688I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 338706	NM_006420.3(ARFGEF2):c.5105C>T (p.Ser1702Phe)	ARFGEF2 (S1702F)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898306	NM_006420.3(ARFGEF2):c.5275T>C (p.Phe1759Leu)	ARFGEF2 (F1759L)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898307	NM_006420.3(ARFGEF2):c.5286A>G (p.Ile1762Met)	ARFGEF2 (I1762M)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898308	NM_006420.3(ARFGEF2):c.*29T>C	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338708	NM_006420.3(ARFGEF2):c.*32G>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338709	NM_006420.3(ARFGEF2):c.*70C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895327	NM_006420.3(ARFGEF2):c.*127C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895328	NM_006420.3(ARFGEF2):c.*134C>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338710	NM_006420.3(ARFGEF2):c.*134C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895329	NM_006420.3(ARFGEF2):c.*140C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338711	NM_006420.3(ARFGEF2):c.*141G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895330	NM_006420.3(ARFGEF2):c.*148C>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895331	NM_006420.3(ARFGEF2):c.*161A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338712	NM_006420.3(ARFGEF2):c.*215G>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338713	NM_006420.3(ARFGEF2):c.*237A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign/Likely benign
Select item 896744	NM_006420.3(ARFGEF2):c.*323G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338714	NM_006420.3(ARFGEF2):c.*368A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338715	NM_006420.3(ARFGEF2):c.*494G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GBenign
Select item 338716	NM_006420.3(ARFGEF2):c.*503G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896745	NM_006420.3(ARFGEF2):c.*640T>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance

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