FASTKD5[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 2356196	NM_021826.5(FASTKD5):c.2276T>C (p.Val759Ala)	FASTKD5, UBOX5 +1 more (V759A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401375	NM_021826.5(FASTKD5):c.2275G>A (p.Val759Ile)	FASTKD5, UBOX5 +1 more (V759I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093006	NM_021826.5(FASTKD5):c.2243G>T (p.Arg748Leu)	FASTKD5, UBOX5 +1 more (R748L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093005	NM_021826.5(FASTKD5):c.2179C>T (p.Arg727Trp)	FASTKD5, UBOX5 +1 more (R727W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559167	NM_021826.5(FASTKD5):c.2168G>A (p.Arg723Gln)	FASTKD5, UBOX5 +1 more (R723Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381826	NM_021826.5(FASTKD5):c.2126A>G (p.Tyr709Cys)	FASTKD5, UBOX5 +1 more (Y709C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621804	NM_021826.5(FASTKD5):c.2117A>G (p.Gln706Arg)	FASTKD5, UBOX5 +1 more (Q706R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268687	NM_021826.5(FASTKD5):c.2095G>T (p.Val699Phe)	FASTKD5, UBOX5 +1 more (V699F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093004	NM_021826.5(FASTKD5):c.2059G>A (p.Ala687Thr)	FASTKD5, UBOX5 +1 more (A687T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281288	NM_021826.5(FASTKD5):c.1930G>T (p.Gly644Cys)	FASTKD5, UBOX5 +1 more (G644C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537444	NM_021826.5(FASTKD5):c.1913C>G (p.Ala638Gly)	FASTKD5, UBOX5 +1 more (A638G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277766	NM_021826.5(FASTKD5):c.1836T>G (p.Asn612Lys)	FASTKD5, UBOX5 +1 more (N612K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614060	NM_021826.5(FASTKD5):c.1757G>A (p.Arg586Gln)	FASTKD5, UBOX5 +1 more (R586Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093003	NM_021826.5(FASTKD5):c.1645G>A (p.Ala549Thr)	FASTKD5, UBOX5 +1 more (A549T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093002	NM_021826.5(FASTKD5):c.1624T>C (p.Ser542Pro)	FASTKD5, UBOX5 +1 more (S542P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277762	NM_021826.5(FASTKD5):c.1606C>T (p.His536Tyr)	FASTKD5, UBOX5 +1 more (H536Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093001	NM_021826.5(FASTKD5):c.1592A>G (p.Asn531Ser)	FASTKD5, UBOX5 +1 more (N531S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093000	NM_021826.5(FASTKD5):c.1588G>C (p.Gly530Arg)	FASTKD5, UBOX5 +1 more (G530R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092999	NM_021826.5(FASTKD5):c.1568T>A (p.Ile523Asn)	FASTKD5, UBOX5 +1 more (I523N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320529	NM_021826.5(FASTKD5):c.1553A>G (p.Asp518Gly)	FASTKD5, UBOX5 +1 more (D518G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092998	NM_021826.5(FASTKD5):c.1532T>C (p.Leu511Pro)	FASTKD5, UBOX5 +1 more (L511P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285147	NM_021826.5(FASTKD5):c.1447G>C (p.Glu483Gln)	FASTKD5, UBOX5 +1 more (E483Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374483	NM_021826.5(FASTKD5):c.1445T>G (p.Leu482Trp)	FASTKD5, UBOX5 +1 more (L482W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228416	NM_021826.5(FASTKD5):c.1400A>G (p.Gln467Arg)	FASTKD5, UBOX5 +1 more (Q467R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092997	NM_021826.5(FASTKD5):c.1339G>A (p.Ala447Thr)	FASTKD5, UBOX5 +1 more (A447T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476827	NM_021826.5(FASTKD5):c.1277G>A (p.Arg426Gln)	FASTKD5, UBOX5 +1 more (R426Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296298	NM_021826.5(FASTKD5):c.1259C>G (p.Pro420Arg)	FASTKD5, UBOX5 +1 more (P420R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523181	NM_021826.5(FASTKD5):c.1258C>T (p.Pro420Ser)	FASTKD5, UBOX5 +1 more (P420S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224606	NM_021826.5(FASTKD5):c.1202C>T (p.Ser401Leu)	FASTKD5, UBOX5 +1 more (S401L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301318	NM_021826.5(FASTKD5):c.1091G>A (p.Arg364His)	FASTKD5, UBOX5 +1 more (R364H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092995	NM_021826.5(FASTKD5):c.1087T>A (p.Phe363Ile)	FASTKD5, UBOX5 +1 more (F363I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093011	NM_021826.5(FASTKD5):c.941A>G (p.Asn314Ser)	FASTKD5, UBOX5 +1 more (N314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460111	NM_021826.5(FASTKD5):c.929T>C (p.Ile310Thr)	FASTKD5, UBOX5 +1 more (I310T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093010	NM_021826.5(FASTKD5):c.908A>T (p.Glu303Val)	FASTKD5, UBOX5 +1 more (E303V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537992	NM_021826.5(FASTKD5):c.851T>C (p.Leu284Ser)	FASTKD5, UBOX5 +1 more (L284S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598877	NM_021826.5(FASTKD5):c.825T>G (p.Asp275Glu)	FASTKD5, UBOX5 +1 more (D275E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263503	NM_021826.5(FASTKD5):c.803A>G (p.Tyr268Cys)	FASTKD5, UBOX5 +1 more (Y268C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547020	NM_021826.5(FASTKD5):c.799A>G (p.Ser267Gly)	FASTKD5, UBOX5 +1 more (S267G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386087	NM_021826.5(FASTKD5):c.683A>G (p.Tyr228Cys)	FASTKD5, UBOX5 +1 more (Y228C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372599	NM_021826.5(FASTKD5):c.670A>G (p.Met224Val)	FASTKD5, UBOX5 +1 more (M224V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093009	NM_021826.5(FASTKD5):c.488T>C (p.Ile163Thr)	FASTKD5, UBOX5 +1 more (I163T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093008	NM_021826.5(FASTKD5):c.477G>C (p.Gln159His)	FASTKD5, UBOX5 +1 more (Q159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093007	NM_021826.5(FASTKD5):c.452T>C (p.Val151Ala)	FASTKD5, UBOX5 +1 more (V151A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277763	NM_021826.5(FASTKD5):c.376C>T (p.Arg126Cys)	FASTKD5, UBOX5 +1 more (R126C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345625	NM_021826.5(FASTKD5):c.289A>G (p.Arg97Gly)	FASTKD5, UBOX5 +1 more (R97G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277765	NM_021826.5(FASTKD5):c.286C>T (p.Pro96Ser)	FASTKD5, UBOX5 +1 more (P96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550219	NM_021826.5(FASTKD5):c.269C>T (p.Thr90Ile)	FASTKD5, UBOX5 +1 more (T90I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612469	NM_021826.5(FASTKD5):c.227C>T (p.Pro76Leu)	FASTKD5, UBOX5 +1 more (P76L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2388657	NM_021826.5(FASTKD5):c.217A>C (p.Ser73Arg)	FASTKD5, UBOX5 +1 more (S73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535831	NM_021826.5(FASTKD5):c.197G>A (p.Arg66Gln)	FASTKD5, UBOX5 +1 more (R66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277764	NM_021826.5(FASTKD5):c.189C>G (p.Phe63Leu)	FASTKD5, UBOX5 +1 more (F63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325446	NM_021826.5(FASTKD5):c.77G>C (p.Arg26Pro)	FASTKD5, UBOX5 +1 more (R26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206303	NM_021826.5(FASTKD5):c.41G>A (p.Arg14Gln)	FASTKD5, UBOX5 +1 more (R14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +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 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2427137	NC_000020.10:g.(?_3063276)_(3218325_?)dup	AVP, DDRGK1 +5 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564614	GRCh37/hg19 20p13(chr20:3019956-3178446)x1	AVP, LZTS3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, ADISSP +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253695	GRCh37/hg19 20p13(chr20:3026868-3657453)x3	DDRGK1, OXT +11 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 94