ClinVar for Gene (Select 80830) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308702	NM_030641.4(APOL6):c.448G>A (p.Asp150Asn)	APOL6 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308690	NM_030641.4(APOL6):c.177G>C (p.Lys59Asn)	APOL6 (K59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128054	NM_030641.4(APOL6):c.646G>A (p.Val216Met)	APOL6 (V216M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128052	NM_030641.4(APOL6):c.616A>G (p.Thr206Ala)	APOL6 (T206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128051	NM_030641.4(APOL6):c.496G>C (p.Ala166Pro)	APOL6 (A166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128049	NM_030641.4(APOL6):c.334G>A (p.Ala112Thr)	APOL6 (A112T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128048	NM_030641.4(APOL6):c.263C>G (p.Ser88Cys)	APOL6 (S88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128047	NM_030641.4(APOL6):c.104T>C (p.Leu35Pro)	APOL6 (L35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653094	NM_030641.4(APOL6):c.804G>A (p.Ala268=)	APOL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653093	NM_030641.4(APOL6):c.375C>T (p.Ile125=)	APOL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608647	NM_030641.4(APOL6):c.216G>T (p.Lys72Asn)	APOL6 (K72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606842	NM_030641.4(APOL6):c.34G>A (p.Gly12Ser)	APOL6 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598507	NM_030641.4(APOL6):c.656A>G (p.Gln219Arg)	APOL6 (Q219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589926	NM_030641.4(APOL6):c.82G>A (p.Val28Met)	APOL6 (V28M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588742	NM_030641.4(APOL6):c.896G>T (p.Arg299Met)	APOL6 (R299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566301	NM_030641.4(APOL6):c.97G>A (p.Gly33Arg)	APOL6 (G33R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2565140	NM_030641.4(APOL6):c.997T>G (p.Cys333Gly)	APOL6 (C333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549693	NM_030641.4(APOL6):c.234C>G (p.Asn78Lys)	APOL6 (N78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515754	NM_030641.4(APOL6):c.530C>A (p.Thr177Asn)	APOL6 (T177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515696	NM_030641.4(APOL6):c.466G>A (p.Asp156Asn)	APOL6 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515641	NM_030641.4(APOL6):c.425C>T (p.Ala142Val)	APOL6 (A142V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509278	NM_030641.4(APOL6):c.683C>T (p.Ala228Val)	APOL6 (A228V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486124	NM_030641.4(APOL6):c.1016A>C (p.Tyr339Ser)	APOL6 (Y339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474214	NM_030641.4(APOL6):c.687G>A (p.Met229Ile)	APOL6 (M229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467914	NM_030641.4(APOL6):c.395G>A (p.Arg132His)	APOL6 (R132H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467761	NM_030641.4(APOL6):c.14C>T (p.Ala5Val)	APOL6 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458797	NM_030641.4(APOL6):c.421C>T (p.Arg141Trp)	APOL6 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454910	NM_030641.4(APOL6):c.926G>A (p.Gly309Glu)	APOL6 (G309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2396088	NM_030641.4(APOL6):c.898G>T (p.Ala300Ser)	APOL6 (A300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395242	NM_030641.4(APOL6):c.709G>A (p.Gly237Arg)	APOL6 (G237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378577	NM_030641.4(APOL6):c.542C>A (p.Ala181Asp)	APOL6 (A181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366185	NM_030641.4(APOL6):c.305C>A (p.Thr102Lys)	APOL6 (T102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365989	NM_030641.4(APOL6):c.112G>A (p.Glu38Lys)	APOL6 (E38K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353642	NM_030641.4(APOL6):c.586C>T (p.Arg196Cys)	APOL6 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345823	NM_030641.4(APOL6):c.251C>T (p.Thr84Ile)	APOL6 (T84I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335635	NM_030641.4(APOL6):c.799T>G (p.Phe267Val)	APOL6 (F267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297843	NM_030641.4(APOL6):c.557G>A (p.Arg186His)	APOL6 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286626	NM_030641.4(APOL6):c.416A>G (p.Gln139Arg)	APOL6 (Q139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277339	NM_030641.4(APOL6):c.595A>C (p.Asn199His)	APOL6 (N199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261373	NM_030641.4(APOL6):c.296C>T (p.Ala99Val)	APOL6 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246082	NM_030641.4(APOL6):c.608G>A (p.Arg203His)	APOL6 (R203H)	Single nucleotide variant (missense variant)	not specified	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 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 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
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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 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 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 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

ClinVar

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Germline classification

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Links from Gene

Items: 59