ClinVar for Gene (Select 57144) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208074	NM_177990.4(PAK5):c.985C>A (p.Pro329Thr)	PAK5 (P329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208073	NM_177990.4(PAK5):c.968A>G (p.Glu323Gly)	PAK5 (E323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208072	NM_177990.4(PAK5):c.884C>T (p.Pro295Leu)	PAK5 (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208071	NM_177990.4(PAK5):c.855G>T (p.Arg285Ser)	PAK5 (R285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208070	NM_177990.4(PAK5):c.821A>G (p.Asn274Ser)	PAK5 (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208069	NM_177990.4(PAK5):c.755A>T (p.Tyr252Phe)	PAK5 (Y252F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208068	NM_177990.4(PAK5):c.716C>G (p.Thr239Ser)	PAK5 (T239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208067	NM_177990.4(PAK5):c.674G>C (p.Ser225Thr)	PAK5 (S225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208066	NM_177990.4(PAK5):c.610G>T (p.Asp204Tyr)	PAK5 (D204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208065	NM_177990.4(PAK5):c.592G>A (p.Asp198Asn)	PAK5 (D198N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208064	NM_177990.4(PAK5):c.542A>G (p.Tyr181Cys)	PAK5 (Y181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208063	NM_177990.4(PAK5):c.359C>G (p.Ala120Gly)	PAK5 (A120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208062	NM_177990.4(PAK5):c.347G>A (p.Gly116Asp)	PAK5 (G116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208061	NM_177990.4(PAK5):c.24G>T (p.Lys8Asn)	PAK5 (K8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208060	NM_177990.4(PAK5):c.211G>A (p.Val71Ile)	PAK5 (V71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208059	NM_177990.4(PAK5):c.2097C>G (p.Phe699Leu)	PAK5 (F699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208058	NM_177990.4(PAK5):c.2047A>G (p.Arg683Gly)	PAK5 (R683G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208057	NM_177990.4(PAK5):c.1951G>T (p.Ala651Ser)	PAK5 (A651S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208056	NM_177990.4(PAK5):c.1896G>A (p.Met632Ile)	PAK5 (M632I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208055	NM_177990.4(PAK5):c.1873G>T (p.Asp625Tyr)	PAK5 (D625Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208054	NM_177990.4(PAK5):c.1345T>A (p.Leu449Met)	PAK5 (L449M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208053	NM_177990.4(PAK5):c.1261G>T (p.Asp421Tyr)	PAK5 (D421Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208051	NM_177990.4(PAK5):c.1145T>C (p.Leu382Ser)	PAK5 (L382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208050	NM_177990.4(PAK5):c.1139C>G (p.Ala380Gly)	PAK5 (A380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208049	NM_177990.4(PAK5):c.1072C>T (p.Pro358Ser)	PAK5 (P358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062413	GRCh37/hg19 20p12.2(chr20:9596286-10678665)x1	ANKEF1, JAG1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2652201	NM_177990.4(PAK5):c.390G>A (p.Gln130=)	PAK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593929	NM_177990.4(PAK5):c.848G>T (p.Arg283Leu)	PAK5 (R283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2546697	NM_177990.4(PAK5):c.1172G>A (p.Ser391Asn)	PAK5 (S391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540613	NM_177990.4(PAK5):c.1057G>C (p.Gly353Arg)	PAK5 (G353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520602	NM_177990.4(PAK5):c.638G>A (p.Ser213Asn)	PAK5 (S213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517693	NM_177990.4(PAK5):c.1057G>A (p.Gly353Ser)	PAK5 (G353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487055	NM_177990.4(PAK5):c.181C>A (p.Pro61Thr)	PAK5 (P61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477599	NM_177990.4(PAK5):c.451C>A (p.Leu151Ile)	PAK5 (L151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460681	NM_177990.4(PAK5):c.1000G>A (p.Asp334Asn)	PAK5 (D334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1676927	NM_177990.4(PAK5):c.1468C>T (p.Leu490=)	PAK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1526681	GRCh37/hg19 20p12.3-12.2(chr20:8243107-9680538)	LAMP5, PAK5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526679	GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)	ANKEF1, BTBD3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1440938	NC_000020.10:g.(?_7812350)_(10654278_?)dup	ANKEF1, HAO1 +9 more	Duplication	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1340160	GRCh37/hg19 20p12.2(chr20:9537352-9808288)x3	PAK5	Copy number gain	not provided	GUncertain significance
Select item 816116	GRCh37/hg19 20p12.3-12.2(chr20:9017816-9752893)x3	LAMP5, PLCB4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 790215	NM_177990.4(PAK5):c.516A>G (p.Val172=)	PAK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786363	NM_177990.4(PAK5):c.1807T>C (p.Leu603=)	PAK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769077	NM_177990.4(PAK5):c.648G>A (p.Lys216=)	PAK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769076	NM_177990.4(PAK5):c.999C>T (p.Tyr333=)	PAK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689190	GRCh37/hg19 20p12.2(chr20:9736492-9881109)x3	PAK5	Copy number gain	not provided	GUncertain significance
Select item 688968	GRCh37/hg19 20p12.2(chr20:9736492-9886643)x3	PAK5	Copy number gain	not provided	GUncertain significance
Select item 687279	GRCh37/hg19 20p12.2(chr20:9736492-9886643)x3	PAK5	Copy number gain	not provided	GUncertain significance
Select item 685949	GRCh37/hg19 20p12.2(chr20:9736492-9886643)x4	PAK5	Copy number gain	not provided	GUncertain significance
Select item 685422	GRCh37/hg19 20p12.2(chr20:9736492-9881437)x3	PAK5	Copy number gain	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 152496	GRCh38/hg38 20p12.2(chr20:9771030-9988151)x3	LOC126862969, LOC130065413 +3 more	Copy number gain	See cases	GLikely benign
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 80