STK35[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC130065300, LOC130065301 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +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	ADAM33, ADISSP +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	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, 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
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065331, LOC130065332 +300 more	Copy number gain	See cases	GPathogenic
Select item 2291209	NM_080836.4(STK35):c.61A>T (p.Arg21Trp)	STK35 (R21W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351149	NM_080836.4(STK35):c.101G>A (p.Ser34Asn)	STK35 (S34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243626	NM_080836.4(STK35):c.176G>A (p.Arg59Gln)	LOC130065299, STK35 (R59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652142	NM_080836.4(STK35):c.180C>T (p.Ala60=)	LOC130065299, STK35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390671	NM_080836.4(STK35):c.187T>G (p.Ser63Ala)	LOC130065299, STK35 (S63A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291836	NM_080836.4(STK35):c.229G>C (p.Asp77His)	LOC130065299, STK35 (D77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525619	NM_080836.4(STK35):c.235C>A (p.Pro79Thr)	LOC130065299, STK35 (P79T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310243	NM_080836.4(STK35):c.356G>C (p.Gly119Ala)	STK35 (G119A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285969	NM_080836.4(STK35):c.359C>T (p.Ala120Val)	STK35 (A120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311000	NM_080836.4(STK35):c.362G>C (p.Arg121Pro)	STK35 (R121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569552	NM_080836.4(STK35):c.392C>T (p.Pro131Leu)	STK35 (P131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548216	NM_080836.4(STK35):c.409G>A (p.Gly137Arg)	STK35 (G137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461741	NM_080836.4(STK35):c.434C>A (p.Thr145Lys)	STK35 (T145K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256302	NM_080836.4(STK35):c.442C>T (p.Pro148Ser)	STK35 (P148S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534646	NM_080836.4(STK35):c.479C>T (p.Pro160Leu)	STK35 (P160L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534647	NM_080836.4(STK35):c.484A>G (p.Thr162Ala)	STK35 (T162A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534648	NM_080836.4(STK35):c.512G>A (p.Arg171Gln)	STK35 (R171Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534650	NM_080836.4(STK35):c.533C>T (p.Ala178Val)	STK35 (A178V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534651	NM_080836.4(STK35):c.554T>A (p.Phe185Tyr)	STK35 (F185Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2204325	NM_080836.4(STK35):c.898A>G (p.Arg300Gly)	STK35 (R300G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603996	NM_080836.4(STK35):c.1204A>C (p.Asn402His)	STK35 (N402H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +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 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	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 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	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	KIF3B, KIZ +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 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	ANGPT4, C20orf141 +48 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	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 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 51