"GeneDx"[submitter] AND "APOL1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59059	GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3	APOL1, LOC126863137 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1277110	NM_003661.4(APOL1):c.-20+309G>A	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256906	NM_003661.4(APOL1):c.-20+526G>A	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255247	NM_003661.4(APOL1):c.-20+537C>T	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225811	NM_003661.4(APOL1):c.-20+701C>T	APOL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1316241	NM_003661.4(APOL1):c.-20+739C>T	APOL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1316242	NM_003661.4(APOL1):c.-19-843A>G	APOL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317254	NM_003661.4(APOL1):c.-19-762C>G	APOL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706719	NM_003661.4(APOL1):c.-19-171G>T	APOL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290711	NM_003661.4(APOL1):c.-19-27G>A	APOL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1289058	NM_003661.4(APOL1):c.44+186T>G	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259540	NM_003661.4(APOL1):c.45-240G>T	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264808	NM_003661.4(APOL1):c.45-198C>T	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317542	NM_003661.4(APOL1):c.45-92C>T	APOL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290732	NM_003661.4(APOL1):c.99-90G>A	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249696	NM_003661.4(APOL1):c.187+300_187+302del	APOL1	Deletion (intron variant)	not provided	GBenign
Select item 1229453	NM_003661.4(APOL1):c.187+290G>A	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222042	NM_003661.4(APOL1):c.188-313T>C	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175461	NM_003661.4(APOL1):c.188-210G>C	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317754	NM_003661.4(APOL1):c.188-168A>C	APOL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289203	NM_003661.4(APOL1):c.188-168A>G	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240866	NM_003661.4(APOL1):c.188-46A>G	APOL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1166217	NM_003661.4(APOL1):c.286G>A (p.Gly96Arg)	APOL1 (G112R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1228848	NM_003661.4(APOL1):c.314+21T>C	APOL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1256932	NM_003661.4(APOL1):c.315-276C>T	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277036	NM_003661.4(APOL1):c.315-222A>G	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183411	NM_003661.4(APOL1):c.315-136A>G	APOL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262895	NM_003661.4(APOL1):c.315-48A>G	APOL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225494	NM_003661.4(APOL1):c.315-45G>A	APOL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1168875	NM_003661.4(APOL1):c.448G>A (p.Glu150Lys)	APOL1 (E132K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 787506	NM_003661.4(APOL1):c.527A>G (p.Asn176Ser)	APOL1 (N176S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1170848	NM_003661.4(APOL1):c.654C>A (p.Ala218=)	APOL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1170849	NM_003661.4(APOL1):c.684G>A (p.Met228Ile)	APOL1 (M210I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170850	NM_003661.4(APOL1):c.764G>A (p.Arg255Lys)	APOL1 (R237K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170737	NM_003661.4(APOL1):c.792C>A (p.Asn264Lys)	APOL1 (N246K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 666614	NM_003661.4(APOL1):c.960G>A (p.Arg320=)	APOL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 777703	NM_003661.4(APOL1):c.1009G>A (p.Asp337Asn)	APOL1 (D337N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 277678	NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	APOL1 (S358G +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity; risk factor
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 127198	NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	APOL1 (I400M +2 more)	Single nucleotide variant (missense variant)	APOL1-associated kidney disease +3 more	GConflicting classifications of pathogenicity; risk 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 1182811	NM_003661.4(APOL1):c.*92T>A	APOL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1221694	NM_003661.4(APOL1):c.*151G>A	APOL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242511	NM_003661.4(APOL1):c.*292T>G	APOL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245562	NM_003661.4(APOL1):c.*298T>C	APOL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1248991	NM_003661.4(APOL1):c.*307T>C	APOL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253911	GRCh37/hg19 22q12.3(chr22:36623928-36677639)x3	APOL2, MYH9 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 52