ClinVar for MedGen (Select 334110) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254661	NM_006420.3(ARFGEF2):c.4918C>T (p.Arg1640Ter)	ARFGEF2 (R1639* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 3064073	NM_006420.3(ARFGEF2):c.2776C>T (p.Arg926Ter)	ARFGEF2 (R925* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
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 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 2434911	NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter)	ARFGEF2 (R940* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely pathogenic
Select item 2223474	NM_006420.3(ARFGEF2):c.5068T>G (p.Cys1690Gly)	ARFGEF2 (C1690G +1 more)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 1705394	NM_006420.3(ARFGEF2):c.4003G>T (p.Glu1335Ter)	ARFGEF2 (E1334* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 1323380	NM_006420.3(ARFGEF2):c.1072C>T (p.Gln358Ter)	ARFGEF2 (Q358*)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 1304757	NM_006420.3(ARFGEF2):c.5266C>T (p.Arg1756Trp)	ARFGEF2 (R1756W)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 1033104	NM_006420.3(ARFGEF2):c.3718A>G (p.Ile1240Val)	ARFGEF2 (I1240V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033103	NM_006420.3(ARFGEF2):c.2260A>G (p.Ile754Val)	ARFGEF2 (I754V)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 1033101	NM_006420.3(ARFGEF2):c.1105G>A (p.Val369Ile)	ARFGEF2 (V369I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982854	NM_006420.3(ARFGEF2):c.1015G>C (p.Gly339Arg)	ARFGEF2 (G339R)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 930714	NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs)	ARFGEF2 (L1424fs)	Deletion (frameshift variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely pathogenic
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 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 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 898392	NM_006420.3(ARFGEF2):c.*1708C>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 898391	NM_006420.3(ARFGEF2):c.*1560G>A	ARFGEF2	Single nucleotide variant (3 prime UTR 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 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 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 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 898242	NM_006420.3(ARFGEF2):c.2276+10G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 897284	NM_006420.3(ARFGEF2):c.*2858C>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 897221	NM_006420.3(ARFGEF2):c.*1184A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 897220	NM_006420.3(ARFGEF2):c.*1104G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 897219	NM_006420.3(ARFGEF2):c.*1015C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 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 896803	NM_006420.3(ARFGEF2):c.*2692C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896802	NM_006420.3(ARFGEF2):c.*2391C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 896746	NM_006420.3(ARFGEF2):c.*866T>C	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
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 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 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 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 896614	NM_006420.3(ARFGEF2):c.1926A>G (p.Gln642=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 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 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 896552	NM_006420.3(ARFGEF2):c.-39C>T	ARFGEF2, LOC130066080	Single nucleotide variant (5 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 895407	NM_006420.3(ARFGEF2):c.*1943G>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 895406	NM_006420.3(ARFGEF2):c.*1876G>A	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 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 895329	NM_006420.3(ARFGEF2):c.*140C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 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 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 895253	NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys)	ARFGEF2 (R1092C)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 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 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 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 813556	NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln)	ARFGEF2 (R113Q)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GUncertain significance
Select item 803611	NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter)	ARFGEF2 (R1752*)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 803610	NM_006420.3(ARFGEF2):c.1492del (p.Met498fs)	ARFGEF2 (M498fs)	Deletion (frameshift variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 798173	NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)	ARFGEF2 (N1449T)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 718061	NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 679360	NM_006420.3(ARFGEF2):c.4180-63A>G	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 679358	NM_006420.3(ARFGEF2):c.3222-65G>A	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 674155	NM_006420.3(ARFGEF2):c.3433-53G>A	ARFGEF2	Single nucleotide variant (intron variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 670925	NM_006420.3(ARFGEF2):c.1060-42T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 587411	NM_006420.3(ARFGEF2):c.3262G>A (p.Val1088Ile)	ARFGEF2 (V1088I)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 506913	NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys)	ARFGEF2 (R257K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434297	NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs)	ARFGEF2 (P880fs)	Indel (frameshift variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 434295	NM_006420.2(ARFGEF2):c.1062_1067del	ARFGEF2	Deletion	not provided +1 more	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 434282	NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 338747	NM_006420.3(ARFGEF2):c.*3486T>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338746	NM_006420.3(ARFGEF2):c.*2898C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338745	NM_006420.3(ARFGEF2):c.*2820T>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338740	NM_006420.3(ARFGEF2):c.*2758A>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338739	NM_006420.3(ARFGEF2):c.*2609C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338738	NM_006420.3(ARFGEF2):c.*2602A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 338737	NM_006420.3(ARFGEF2):c.*2591G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338736	NM_006420.3(ARFGEF2):c.*2518A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 338735	NM_006420.3(ARFGEF2):c.*2451A>C	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338734	NM_006420.3(ARFGEF2):c.*2240A>C	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338733	NM_006420.3(ARFGEF2):c.*2067G>C	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338732	NM_006420.3(ARFGEF2):c.*2014T>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338731	NM_006420.3(ARFGEF2):c.*1969G>C	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338730	NM_006420.3(ARFGEF2):c.*1969G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338729	NM_006420.3(ARFGEF2):c.*1932A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338728	NM_006420.3(ARFGEF2):c.*1846C>T	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338727	NM_006420.3(ARFGEF2):c.*1789A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338726	NM_006420.3(ARFGEF2):c.*1756G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive +1 more	GBenign
Select item 338725	NM_006420.3(ARFGEF2):c.*1608T>C	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 338724	NM_006420.3(ARFGEF2):c.*1603A>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely benign
Select item 338723	NM_006420.3(ARFGEF2):c.*1564G>A	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance

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