STK25[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 144757	GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	ATG4B, BOK +44 more	Copy number loss	See cases	GUncertain significance
Select item 2496410	NM_014808.4(FARP2):c.2854G>A (p.Val952Ile)	FARP2, STK25 (V952I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2307980	NM_014808.4(FARP2):c.2882A>G (p.Tyr961Cys)	FARP2, STK25 (Y961C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329254	NM_014808.4(FARP2):c.2930G>A (p.Gly977Asp)	FARP2, STK25 (G977D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455987	NM_014808.4(FARP2):c.2956G>A (p.Ala986Thr)	FARP2, STK25 (A986T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305151	NM_014808.4(FARP2):c.2968C>A (p.His990Asn)	FARP2, STK25 (H990N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092902	NM_014808.4(FARP2):c.3023C>T (p.Ala1008Val)	FARP2, STK25 (A1008V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 785028	NM_014808.4(FARP2):c.3027G>A (p.Glu1009=)	FARP2, STK25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2316074	NM_014808.4(FARP2):c.3044A>G (p.Glu1015Gly)	FARP2, STK25 (E1015G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2484415	NM_014808.4(FARP2):c.3070G>A (p.Ala1024Thr)	FARP2, STK25 (A1024T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356558	NM_014808.4(FARP2):c.3097A>G (p.Ser1033Gly)	FARP2, STK25 (S1033G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 722356	NM_014808.4(FARP2):c.3138G>A (p.Glu1046=)	FARP2, STK25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2652114	NM_014808.4(FARP2):c.3159G>A (p.Glu1053=)	FARP2, STK25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2387473	NM_001271977.2(STK25):c.1277G>A (p.Arg426His)	STK25 (R426H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385933	NM_001271977.2(STK25):c.1276C>T (p.Arg426Cys)	STK25 (R332C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493045	NM_001271977.2(STK25):c.1230G>T (p.Glu410Asp)	STK25 (E336D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293193	NM_001271977.2(STK25):c.1093G>A (p.Val365Ile)	STK25 (V288I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467973	NM_001271977.2(STK25):c.1087C>T (p.Arg363Trp)	STK25 (R286W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171309	NM_001271977.2(STK25):c.1045G>A (p.Val349Ile)	STK25 (V275I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281163	NM_001271977.2(STK25):c.1034C>T (p.Pro345Leu)	STK25 (P268L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255795	NM_001271977.2(STK25):c.1021A>G (p.Ser341Gly)	STK25 (S267G +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480932	NM_001271977.2(STK25):c.976C>T (p.Arg326Trp)	STK25 (R326W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171317	NM_001271977.2(STK25):c.967C>G (p.Pro323Ala)	STK25 (P323A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475257	NM_001271977.2(STK25):c.953T>G (p.Ile318Ser)	STK25 (I224S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171316	NM_001271977.2(STK25):c.932A>C (p.Glu311Ala)	STK25 (E234A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171315	NM_001271977.2(STK25):c.929C>T (p.Ala310Val)	STK25 (A216V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171314	NM_001271977.2(STK25):c.875C>T (p.Ser292Leu)	STK25 (S215L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171313	NM_001271977.2(STK25):c.865C>T (p.Arg289Cys)	STK25 (R212C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171312	NM_001271977.2(STK25):c.856C>T (p.Arg286Cys)	STK25 (R212C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171311	NM_001271977.2(STK25):c.767G>A (p.Arg256Gln)	STK25 (R179Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304166	NM_001271977.2(STK25):c.764C>T (p.Pro255Leu)	STK25 (P161L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171310	NM_001271977.2(STK25):c.577G>A (p.Asp193Asn)	STK25 (D193N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476805	NM_001271977.2(STK25):c.386A>G (p.Asp129Gly)	STK25 (D35G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283014	NM_001271977.2(STK25):c.301G>A (p.Gly101Ser)	STK25 (G7S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612766	NM_001271977.2(STK25):c.154G>A (p.Asp52Asn)	STK25 (D52N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479846	NM_001271977.2(STK25):c.23C>T (p.Ala8Val)	STK25 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323290	NM_001271977.2(STK25):c.9C>G (p.His3Gln)	STK25 (H3Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1808495	GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1	ATG4B, BOK +8 more	Copy number loss	not provided	GUncertain significance
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	AGXT, ANKMY1 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic

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