80833[Gene ID] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
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 3128028	NM_145639.2(APOL3):c.982T>C (p.Cys328Arg)	APOL3 (C199R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211018	NM_145639.2(APOL3):c.971G>A (p.Arg324His)	APOL3 (R195H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128027	NM_145639.2(APOL3):c.916C>T (p.Arg306Trp)	APOL3 (R307W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243980	NM_145639.2(APOL3):c.799C>T (p.Arg267Trp)	APOL3 (R138W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128036	NM_145639.2(APOL3):c.778C>T (p.Arg260Trp)	APOL3 (R260W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128035	NM_145639.2(APOL3):c.765T>G (p.Ile255Met)	APOL3 (I256M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128034	NM_145639.2(APOL3):c.707T>C (p.Leu236Pro)	APOL3 (L237P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396152	NM_145639.2(APOL3):c.674G>A (p.Arg225His)	APOL3 (R225H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352913	NM_145639.2(APOL3):c.659T>C (p.Ile220Thr)	APOL3 (I291T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327894	NM_145639.2(APOL3):c.604A>T (p.Ile202Phe)	APOL3 (I188F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128033	NM_145639.2(APOL3):c.599G>A (p.Arg200His)	APOL3 (R186H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318721	NM_145639.2(APOL3):c.521C>T (p.Thr174Ile)	APOL3 (T175I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515252	NM_145639.2(APOL3):c.473C>T (p.Ala158Val)	APOL3 (A144V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774970	NM_145639.2(APOL3):c.469G>A (p.Ala157Thr)	APOL3 (A228T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2473958	NM_145639.2(APOL3):c.464T>C (p.Leu155Pro)	APOL3 (L155P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207679	NM_145639.2(APOL3):c.461G>A (p.Gly154Glu)	APOL3 (G140E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784420	NM_145639.2(APOL3):c.446C>T (p.Thr149Ile)	APOL3 (T149I +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714120	NM_145639.2(APOL3):c.432G>A (p.Thr144=)	APOL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2224009	NM_145639.2(APOL3):c.401G>T (p.Gly134Val)	APOL3 (G134V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128032	NM_145639.2(APOL3):c.307G>A (p.Ala103Thr)	APOL3 (A103T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789682	NM_145639.2(APOL3):c.191C>T (p.Ala64Val)	APOL3 (A135V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3128031	NM_145639.2(APOL3):c.182C>T (p.Thr61Ile)	APOL3 (T61I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128030	NM_145639.2(APOL3):c.139G>C (p.Asp47His)	APOL3 (D47H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771540	NM_145639.2(APOL3):c.91A>G (p.Asn31Asp)	APOL3 (N31D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2332519	NM_145639.2(APOL3):c.41A>G (p.Lys14Arg)	APOL3 (K15R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540530	NM_145639.2(APOL3):c.26C>T (p.Thr9Ile)	APOL3 (T10I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 771541	NM_145639.2(APOL3):c.-100A>G	APOL3 (R71G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2554033	NM_145639.2(APOL3):c.-112C>T	APOL3 (H67Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3308625	NM_145639.2(APOL3):c.-118T>C	APOL3 (C65R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3308636	NM_145640.2(APOL3):c.127G>A (p.Val43Met)	APOL3 (V43M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 747554	NM_145640.2(APOL3):c.104G>T (p.Gly35Val)	APOL3 (G35V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2309299	NM_145640.2(APOL3):c.101A>C (p.Gln34Pro)	APOL3 (Q34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 764006	NM_145640.2(APOL3):c.66C>T (p.Cys22=)	APOL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2608765	NM_145640.2(APOL3):c.59G>A (p.Ser20Asn)	APOL3 (S20N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623301	NM_145640.2(APOL3):c.52A>G (p.Ile18Val)	APOL3 (I18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 764007	NM_145640.2(APOL3):c.39T>G (p.Cys13Trp)	APOL3 (C13W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2271611	NM_145640.2(APOL3):c.31G>A (p.Ala11Thr)	APOL3 (A11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128029	NM_145640.2(APOL3):c.17G>T (p.Gly6Val)	APOL3 (G6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684937	GRCh37/hg19 22q12.3(chr22:36340692-36640557)x3	APOL2, APOL3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809309	GRCh37/hg19 22q12.3(chr22:36540261-36587511)x1	APOL3, APOL4	Copy number loss	not provided	GUncertain significance
Select item 1340532	GRCh37/hg19 22q12.3(chr22:36540261-36595778)x1	APOL3, APOL4	Copy number loss	not provided	GUncertain significance
Select item 1340247	GRCh37/hg19 22q12.3(chr22:36296883-36631953)x3	APOL2, APOL3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816223	GRCh37/hg19 22q12.3(chr22:36259882-36540046)x3	APOL3, RBFOX2	Copy number gain	not provided	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394896	GRCh37/hg19 22q12.3(chr22:36537975-36561044)x1	APOL3	Copy number loss	See cases	GUncertain significance
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
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
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 63