"PreventionGenetics, part of Exact Sciences"[submitter] AND "ARFGEF2"[ - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 418016	NM_006420.3(ARFGEF2):c.-24_-1del	LOC130066080, ARFGEF2	Deletion (5 prime UTR variant)	not specified +1 more	GLikely benign
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 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 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 136418	NM_006420.3(ARFGEF2):c.424-16C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 259981	NM_006420.3(ARFGEF2):c.839-20A>G	ARFGEF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2652381	NM_006420.3(ARFGEF2):c.849C>T (p.Asp283=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031205	NM_006420.3(ARFGEF2):c.1026T>C (p.Asp342=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 434275	NM_006420.3(ARFGEF2):c.1203G>A (p.Leu401=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GLikely benign
Select item 3048300	NM_006420.3(ARFGEF2):c.1228C>T (p.Leu410=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 718061	NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128431	NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +2 more	GBenign/Likely benign
Select item 210225	NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 128432	NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)	ARFGEF2	Single nucleotide variant (synonymous variant)	Periventricular heterotopia with microcephaly, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 2634869	NM_006420.3(ARFGEF2):c.1852A>G (p.Met618Val)	ARFGEF2 (M617V +1 more)	Single nucleotide variant (missense variant)	ARFGEF2-related disorder	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 1200812	NM_006420.3(ARFGEF2):c.1947C>T (p.His649=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GLikely benign
Select item 434278	NM_006420.3(ARFGEF2):c.1953C>T (p.Ile651=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +2 more	GLikely benign
Select item 210232	NM_006420.3(ARFGEF2):c.2276+6C>T	ARFGEF2	Single nucleotide variant (intron variant)	ARFGEF2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 898242	NM_006420.3(ARFGEF2):c.2276+10G>A	ARFGEF2	Single nucleotide variant (intron variant)	ARFGEF2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 259979	NM_006420.3(ARFGEF2):c.2277-16G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3038242	NM_006420.3(ARFGEF2):c.2319G>A (p.Ala773=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GBenign
Select item 3045992	NM_006420.3(ARFGEF2):c.2362-9dup	ARFGEF2	Duplication (intron variant)	ARFGEF2-related disorder	GLikely benign
Select item 1204867	NM_006420.3(ARFGEF2):c.2553G>A (p.Gln851=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GLikely benign
Select item 707753	NM_006420.3(ARFGEF2):c.3003C>T (p.Leu1001=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +2 more	GLikely benign
Select item 1436986	NM_006420.3(ARFGEF2):c.3129G>T (p.Leu1043Phe)	ARFGEF2 (L1043F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3061738	NM_006420.3(ARFGEF2):c.3195G>A (p.Ser1065=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
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 210237	NM_006420.3(ARFGEF2):c.3758-3del	ARFGEF2	Deletion (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 773789	NM_006420.3(ARFGEF2):c.3840C>T (p.Asn1280=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GLikely benign
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 2103160	NM_006420.3(ARFGEF2):c.4120C>T (p.Leu1374=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GLikely benign
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 383707	NM_006420.3(ARFGEF2):c.4212C>T (p.His1404=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +1 more	GBenign/Likely benign
Select item 3029437	NM_006420.3(ARFGEF2):c.4456T>C (p.Leu1486=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3048147	NM_006420.3(ARFGEF2):c.4620C>T (p.Tyr1540=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 784868	NM_006420.3(ARFGEF2):c.4625-4A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 259980	NM_006420.3(ARFGEF2):c.4755+19A>G	ARFGEF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 434291	NM_006420.3(ARFGEF2):c.4756-7C>T	ARFGEF2	Single nucleotide variant (intron variant)	ARFGEF2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3053438	NM_006420.3(ARFGEF2):c.4791G>A (p.Thr1597=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 210243	NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3039234	NM_006420.3(ARFGEF2):c.5352G>A (p.Val1784=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3048746	NM_006420.3(ARFGEF2):c.*2C>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	ARFGEF2-related disorder	GLikely benign

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Items: 48