PHACTR4[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 148584	GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1	LOC112577575, LOC112577576 +24 more	Copy number loss	See cases	GUncertain significance
Select item 151064	GRCh38/hg38 1p35.3(chr1:28386723-28416172)x4	LOC129929932, PHACTR4	Copy number gain	See cases	GUncertain significance
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 2300335	NM_001048183.3(PHACTR4):c.17-20664G>A	PHACTR4 (D13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211957	NM_001048183.3(PHACTR4):c.42G>T (p.Glu14Asp)	PHACTR4 (E22D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285330	NM_001048183.3(PHACTR4):c.88C>T (p.Pro30Ser)	PHACTR4 (P30S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606088	NM_001048183.3(PHACTR4):c.91A>C (p.Thr31Pro)	PHACTR4 (T15P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308122	NM_001048183.3(PHACTR4):c.101A>G (p.Lys34Arg)	PHACTR4 (K34R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478140	NM_001048183.3(PHACTR4):c.121G>T (p.Gly41Cys)	PHACTR4 (G25C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211953	NM_001048183.3(PHACTR4):c.151A>G (p.Lys51Glu)	PHACTR4 (K51E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211955	NM_001048183.3(PHACTR4):c.199C>T (p.Arg67Trp)	PHACTR4 (R75W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276628	NM_001048183.3(PHACTR4):c.284C>T (p.Pro95Leu)	PHACTR4 (P105L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411227	NM_001048183.3(PHACTR4):c.314A>G (p.Asn105Ser)	PHACTR4 (N105S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517715	NM_001048183.3(PHACTR4):c.356C>T (p.Pro119Leu)	PHACTR4 (P127L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211956	NM_001048183.3(PHACTR4):c.521C>T (p.Pro174Leu)	PHACTR4 (P158L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404623	NM_001048183.3(PHACTR4):c.598A>C (p.Ile200Leu)	PHACTR4 (I210L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319691	NM_001048183.3(PHACTR4):c.793C>T (p.Pro265Ser)	PHACTR4 (P275S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354031	NM_001048183.3(PHACTR4):c.800A>T (p.His267Leu)	PHACTR4 (H251L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615384	NM_001048183.3(PHACTR4):c.826G>A (p.Glu276Lys)	PHACTR4 (E260K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301506	NM_001048183.3(PHACTR4):c.848G>C (p.Ser283Thr)	PHACTR4 (S291T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206772	NM_001048183.3(PHACTR4):c.868C>G (p.Pro290Ala)	PHACTR4 (P290A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404261	NM_001048183.3(PHACTR4):c.869C>T (p.Pro290Leu)	PHACTR4 (P274L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301348	NM_001048183.3(PHACTR4):c.877C>A (p.Pro293Thr)	PHACTR4 (P293T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494879	NM_001048183.3(PHACTR4):c.899T>C (p.Ile300Thr)	PHACTR4 (I284T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239474	NM_001048183.3(PHACTR4):c.980C>T (p.Thr327Met)	PHACTR4 (T337M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464761	NM_001048183.3(PHACTR4):c.988A>G (p.Met330Val)	PHACTR4 (M340V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211951	NM_001048183.3(PHACTR4):c.1049A>G (p.His350Arg)	PHACTR4 (H358R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468516	NM_001048183.3(PHACTR4):c.1152T>G (p.Ile384Met)	PHACTR4 (I368M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211952	NM_001048183.3(PHACTR4):c.1373C>T (p.Thr458Met)	PHACTR4 (T442M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247706	NM_001048183.3(PHACTR4):c.1406T>C (p.Ile469Thr)	PHACTR4 (I453T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391604	NM_001048183.3(PHACTR4):c.1479G>C (p.Met493Ile)	PHACTR4 (M493I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363181	NM_001048183.3(PHACTR4):c.1653G>T (p.Lys551Asn)	PHACTR4 (K561N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392443	NM_001048183.3(PHACTR4):c.1732C>T (p.Arg578Trp)	PHACTR4 (R588W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245922	NM_001048183.3(PHACTR4):c.1753C>G (p.Leu585Val)	PHACTR4 (L593V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475123	NM_001048183.3(PHACTR4):c.1955A>G (p.Asp652Gly)	PHACTR4 (D660G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211954	NM_001048183.3(PHACTR4):c.2030A>C (p.Lys677Thr)	PHACTR4 (K677T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395120	GRCh37/hg19 1p35.3(chr1:28666901-28929761)x3	PHACTR4, RAB42 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 47