ClinVar for MedGen (Select 390820) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1669142	NM_003661.4(APOL1):c.837T>C (p.Ile279=)	APOL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1644603	NM_003661.4(APOL1):c.390C>T (p.His130=)	APOL1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GLikely benign
Select item 1634665	NM_003661.4(APOL1):c.314+14G>T	APOL1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GLikely benign
Select item 1585625	NM_003661.4(APOL1):c.1182G>A (p.Ala394=)	APOL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1558598	NM_003661.4(APOL1):c.188-14T>A	APOL1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GBenign/Likely benign
Select item 1532046	NM_003661.4(APOL1):c.315-7T>C	APOL1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GBenign/Likely benign
Select item 1497764	NM_003661.4(APOL1):c.1150A>T (p.Ile384Phe)	APOL1 (I366F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1448613	NM_003661.4(APOL1):c.1051T>C (p.Tyr351His)	APOL1 (Y333H +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GUncertain significance
Select item 1413487	NM_003661.4(APOL1):c.1181C>G (p.Ala394Gly)	APOL1 (A394G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357869	NM_003661.4(APOL1):c.967G>C (p.Glu323Gln)	APOL1 (E305Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301813	NM_003661.4(APOL1):c.1048G>A (p.Val350Ile)	APOL1 (V332I +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 4, susceptibility to	GUncertain significance
Select item 1299830	NM_003661.4(APOL1):c.318T>C (p.Asn106=)	APOL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1165272	NM_003661.4(APOL1):c.188-14T>G	APOL1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 4, susceptibility to +2 more	GBenign/Likely benign
Select item 1120175	NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA]	APOL1 (I400M +5 more)	Single nucleotide variant (missense variant)	Hyalinosis, Segmental Glomerular	Grisk factor
Select item 1045474	NM_003661.4(APOL1):c.797T>G (p.Leu266Arg)	APOL1 (L266R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032145	NM_003661.4(APOL1):c.334C>T (p.Arg112Cys)	APOL1 (R128C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 727880	NM_003661.4(APOL1):c.945T>G (p.Gly315=)	APOL1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GLikely benign
Select item 717758	NM_003661.4(APOL1):c.573C>T (p.Leu191=)	APOL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716600	NM_003661.4(APOL1):c.1116G>A (p.Lys372=)	APOL1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GBenign/Likely benign
Select item 634950	NM_003661.4(APOL1):c.1104T>G (p.Ala368=)	APOL1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 4, susceptibility to +1 more	GLikely benign; risk factor
Select item 634949	NM_003661.4(APOL1):c.976A>G (p.Ile326Val)	APOL1 (I342V +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 4, susceptibility to	Grisk factor
Select item 6081	NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)	APOL1	Deletion (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 6080	NM_003661.3(APOL1):c.[1024A>G;1152T>G]	APOL1 (I400M +5 more)	Single nucleotide variant (missense variant)	Hyalinosis, Segmental Glomerular	Grisk factor

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Items: 23