ClinVar for MedGen (Select 1627611) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663890	NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)	LOC107372315, OSGEP (F40L)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 2584900	NM_017807.4(OSGEP):c.875G>A (p.Cys292Tyr)	OSGEP (C292Y)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 2434516	NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)	OSGEP (F238fs)	Microsatellite (frameshift variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 1684038	NM_017807.4(OSGEP):c.560G>T (p.Gly187Val)	OSGEP (G187V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 1676512	NM_017807.4(OSGEP):c.365G>T (p.Gly122Val)	OSGEP (G122V)	Single nucleotide variant	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 1431992	NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter)	OSGEP (Q255*)	Single nucleotide variant (nonsense)	Galloway-Mowat syndrome 3 +1 more	GUncertain significance
Select item 1331684	NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)	OSGEP (A184T)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 1236170	NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu)	OSGEP (R280L)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 1236169	NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr)	OSGEP (S232Y)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 1229728	NM_017807.4(OSGEP):c.236-32T>C	LOC107372315, OSGEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1168189	NM_017807.4(OSGEP):c.558-17C>T	OSGEP	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 3 +1 more	GBenign
Select item 1165354	NM_017807.4(OSGEP):c.294A>G (p.Gln98=)	LOC107372315, OSGEP	Single nucleotide variant (synonymous variant)	Galloway-Mowat syndrome 3 +1 more	GBenign
Select item 1165353	NM_017807.4(OSGEP):c.570A>G (p.Leu190=)	OSGEP	Single nucleotide variant (synonymous variant)	Galloway-Mowat syndrome 3 +1 more	GBenign
Select item 1164991	NM_017807.4(OSGEP):c.412-17T>A	OSGEP	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 3 +1 more	GBenign
Select item 1033447	NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg)	OSGEP (G281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033446	NM_017807.4(OSGEP):c.317G>T (p.Gly106Val)	LOC107372315, OSGEP (G106V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 992324	NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter)	OSGEP (R186*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 974488	NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys)	LOC107372315, OSGEP (N27K)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 974487	NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe)	LOC107372315, OSGEP (I53F)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GLikely pathogenic
Select item 599157	NM_017807.4(OSGEP):c.892A>T (p.Met298Leu)	OSGEP (M298L)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GUncertain significance
Select item 521157	NM_017807.4(OSGEP):c.319G>A (p.Val107Met)	OSGEP, LOC107372315 (V107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 449687	NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp)	OSGEP (R325W)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 444893	NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)	OSGEP (R247Q)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3 +1 more	GPathogenic
Select item 444892	NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)	OSGEP (R280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 444891	NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)	LOC107372315, OSGEP (I111T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 444890	NM_017807.4(OSGEP):c.839G>A (p.Arg280His)	OSGEP (R280H)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 3	GPathogenic
Select item 444889	NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe)	LOC107372315, OSGEP (I14F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 444888	NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala)	OSGEP (G177A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444887	NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	LOC107372315, OSGEP (C110R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 444886	NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln)	OSGEP (R325Q)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome	GPathogenic

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Items: 30