PHF3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 148991	GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3	ADGRB3, ADGRB3-DT +105 more	Copy number gain	See cases	GPathogenic
Select item 2569469	NM_001370348.2(PHF3):c.106G>A (p.Ala36Thr)	PHF3 (A36T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2634524	NM_001370348.2(PHF3):c.151G>A (p.Asp51Asn)	PHF3 (D51N)	Single nucleotide variant (5 prime UTR variant +2 more)	PHF3-related disorder	GUncertain significance
Select item 3306151	NM_001370348.2(PHF3):c.181A>G (p.Asn61Asp)	PHF3 (N61D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3306152	NM_001370348.2(PHF3):c.182A>C (p.Asn61Thr)	PHF3 (N61T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3045235	NM_001370348.2(PHF3):c.244+7C>A	PHF3	Single nucleotide variant (intron variant)	PHF3-related disorder	GLikely benign
Select item 2776132	NM_001370348.2(PHF3):c.244+33del	PHF3	Deletion (intron variant)	not provided	GBenign
Select item 2214698	NM_001370348.2(PHF3):c.312A>T (p.Glu104Asp)	PHF3 (E104D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037746	NM_001370348.2(PHF3):c.407-9_407-8del	PHF3	Deletion (intron variant)	PHF3-related disorder	GBenign
Select item 3306158	NM_001370348.2(PHF3):c.413T>C (p.Val138Ala)	PHF3 (V50A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781871	NM_001370348.2(PHF3):c.443A>G (p.Lys148Arg)	PHF3 (K148R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716135	NM_001370348.2(PHF3):c.454G>T (p.Ala152Ser)	PHF3 (A152S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3212179	NM_001370348.2(PHF3):c.491A>G (p.Lys164Arg)	PHF3 (K76R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042219	NM_001370348.2(PHF3):c.498A>G (p.Val166=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GBenign
Select item 3212181	NM_001370348.2(PHF3):c.502A>G (p.Thr168Ala)	PHF3 (T168A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3357790	NM_001370348.2(PHF3):c.612C>T (p.Ser204=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 3041920	NM_001370348.2(PHF3):c.697G>A (p.Gly233Arg)	PHF3 (G145R +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GBenign
Select item 2606882	NM_001370348.2(PHF3):c.718T>C (p.Cys240Arg)	PHF3 (C240R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212187	NM_001370348.2(PHF3):c.737T>C (p.Ile246Thr)	PHF3 (I246T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551694	NM_001370348.2(PHF3):c.743T>G (p.Val248Gly)	PHF3 (V160G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212496	NM_001370348.2(PHF3):c.761A>C (p.Asn254Thr)	PHF3 (N166T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3306150	NM_001370348.2(PHF3):c.794T>C (p.Ile265Thr)	PHF3 (I177T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212189	NM_001370348.2(PHF3):c.824A>G (p.Glu275Gly)	PHF3 (E187G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306149	NM_001370348.2(PHF3):c.825A>C (p.Glu275Asp)	PHF3 (E187D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035517	NM_001370348.2(PHF3):c.852A>G (p.Pro284=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2312393	NM_001370348.2(PHF3):c.917A>C (p.Glu306Ala)	PHF3 (E306A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212190	NM_001370348.2(PHF3):c.946A>G (p.Arg316Gly)	PHF3 (R228G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2633475	NM_001370348.2(PHF3):c.962A>G (p.Asp321Gly)	PHF3 (D233G +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GUncertain significance
Select item 2283447	NM_001370348.2(PHF3):c.1015G>T (p.Ala339Ser)	PHF3 (A339S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536485	NM_001370348.2(PHF3):c.1133A>G (p.Lys378Arg)	PHF3 (K378R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3306162	NM_001370348.2(PHF3):c.1169C>A (p.Thr390Asn)	PHF3 (T390N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306159	NM_001370348.2(PHF3):c.1186A>G (p.Ile396Val)	PHF3 (I308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304996	NM_001370348.2(PHF3):c.1214C>T (p.Ala405Val)	PHF3 (A405V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2309808	NM_001370348.2(PHF3):c.1229A>T (p.Gln410Leu)	PHF3 (Q410L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306160	NM_001370348.2(PHF3):c.1292C>A (p.Pro431Gln)	PHF3 (P431Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778244	NM_001370348.2(PHF3):c.1294G>A (p.Glu432Lys)	PHF3 (E432K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3355049	NM_001370348.2(PHF3):c.1335C>T (p.Asp445=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2600317	NM_001370348.2(PHF3):c.1364A>C (p.Glu455Ala)	PHF3 (E367A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221539	NM_001370348.2(PHF3):c.1459A>G (p.Lys487Glu)	PHF3 (K487E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254037	NM_001370348.2(PHF3):c.1465A>G (p.Lys489Glu)	PHF3 (K489E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786090	NM_001370348.2(PHF3):c.1506C>T (p.Thr502=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3212164	NM_001370348.2(PHF3):c.1513G>A (p.Ala505Thr)	PHF3 (A417T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3212165	NM_001370348.2(PHF3):c.1517C>T (p.Pro506Leu)	PHF3 (P418L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3035077	NM_001370348.2(PHF3):c.1584G>A (p.Val528=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2429809	NM_001370348.2(PHF3):c.1592A>G (p.Asn531Ser)	PHF3 (N443S +1 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2512643	NM_001370348.2(PHF3):c.1634T>C (p.Val545Ala)	PHF3 (V457A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294664	NM_001370348.2(PHF3):c.1685A>G (p.Asn562Ser)	PHF3 (N474S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327242	NM_001370348.2(PHF3):c.1705A>G (p.Lys569Glu)	PHF3 (K481E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212166	NM_001370348.2(PHF3):c.1780C>T (p.His594Tyr)	PHF3 (H506Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3344615	NM_001370348.2(PHF3):c.1793A>C (p.Asp598Ala)	PHF3 (D510A +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GUncertain significance
Select item 3058158	NM_001370348.2(PHF3):c.1803C>T (p.His601=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2368084	NM_001370348.2(PHF3):c.1804G>A (p.Ala602Thr)	PHF3 (A514T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3346135	NM_001370348.2(PHF3):c.1822A>G (p.Lys608Glu)	PHF3 (K520E +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GUncertain significance
Select item 2550041	NM_001370348.2(PHF3):c.1874A>G (p.Lys625Arg)	PHF3 (K537R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488475	NM_001370348.2(PHF3):c.1906G>A (p.Ala636Thr)	LOC129996682, PHF3 (A548T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383194	NM_001370348.2(PHF3):c.1909A>G (p.Met637Val)	LOC129996682, PHF3 (M549V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3053849	NM_001370348.2(PHF3):c.1927G>A (p.Val643Met)	LOC129996682, PHF3 (V555M +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GBenign
Select item 2247823	NM_001370348.2(PHF3):c.1940T>A (p.Leu647His)	LOC129996682, PHF3 (L559H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340687	NM_001370348.2(PHF3):c.1952G>A (p.Gly651Asp)	LOC129996682, PHF3 (G563D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552051	NM_001370348.2(PHF3):c.1981C>G (p.Leu661Val)	LOC129996682, PHF3 (L573V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212168	NM_001370348.2(PHF3):c.2008C>G (p.Leu670Val)	LOC129996682, PHF3 (L670V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043326	NM_001370348.2(PHF3):c.2061A>G (p.Pro687=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 725458	NM_001370348.2(PHF3):c.2079C>T (p.Asn693=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3212169	NM_001370348.2(PHF3):c.2117C>T (p.Ser706Phe)	LOC129996682, PHF3 (S618F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050427	NM_001370348.2(PHF3):c.2163G>T (p.Gly721=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2673065	NM_001370348.2(PHF3):c.2272G>A (p.Gly758Ser)	PHF3 (G27S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2319219	NM_001370348.2(PHF3):c.2381A>C (p.His794Pro)	PHF3 (H794P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212170	NM_001370348.2(PHF3):c.2393A>C (p.Lys798Thr)	PHF3 (K798T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375665	NM_001370348.2(PHF3):c.2405G>A (p.Cys802Tyr)	PHF3 (C714Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2631350	NM_001370348.2(PHF3):c.2414_2415inv (p.Leu805Gln)	PHF3 (L717Q +2 more)	Inversion (missense variant)	PHF3-related disorder	GUncertain significance
Select item 3052278	NM_001370348.2(PHF3):c.2415T>A (p.Leu805=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GLikely benign
Select item 2211452	NM_001370348.2(PHF3):c.2440G>C (p.Asp814His)	PHF3 (D814H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040949	NM_001370348.2(PHF3):c.2454T>C (p.Tyr818=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GLikely benign
Select item 3212171	NM_001370348.2(PHF3):c.2498A>C (p.Glu833Ala)	PHF3 (E833A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048131	NM_001370348.2(PHF3):c.2560G>A (p.Ala854Thr)	PHF3 (A123T +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 2317917	NM_001370348.2(PHF3):c.2575A>G (p.Met859Val)	PHF3 (M128V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355782	NM_001370348.2(PHF3):c.2582A>G (p.Gln861Arg)	PHF3 (Q773R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212172	NM_001370348.2(PHF3):c.2594C>G (p.Pro865Arg)	PHF3 (P134R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212173	NM_001370348.2(PHF3):c.2635G>A (p.Glu879Lys)	PHF3 (E148K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375798	NM_001370348.2(PHF3):c.2668G>C (p.Ala890Pro)	PHF3 (A802P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043671	NM_001370348.2(PHF3):c.2681G>T (p.Gly894Val)	PHF3 (G163V +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 2612758	NM_001370348.2(PHF3):c.2720A>G (p.Glu907Gly)	PHF3 (E907G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332158	NM_001370348.2(PHF3):c.2728G>A (p.Val910Met)	PHF3 (V910M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034369	NM_001370348.2(PHF3):c.2862G>T (p.Lys954Asn)	PHF3 (K223N +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GLikely benign
Select item 2323170	NM_001370348.2(PHF3):c.2903C>G (p.Ser968Cys)	PHF3 (S968C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598811	NM_001370348.2(PHF3):c.2981A>G (p.Asn994Ser)	PHF3 (N263S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061569	NM_001370348.2(PHF3):c.2996A>G (p.Lys999Arg)	PHF3 (K268R +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GLikely benign
Select item 2609577	NM_001370348.2(PHF3):c.3032T>C (p.Ile1011Thr)	PHF3 (I280T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329694	NM_001370348.2(PHF3):c.3041G>A (p.Ser1014Asn)	PHF3 (S1014N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052997	NM_001370348.2(PHF3):c.3140G>A (p.Arg1047Gln)	PHF3 (R1047Q +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GUncertain significance
Select item 2329078	NM_001370348.2(PHF3):c.3212A>T (p.Glu1071Val)	PHF3 (E340V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711443	NM_001370348.2(PHF3):c.3232-6C>T	PHF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656684	NM_001370348.2(PHF3):c.3232-5G>A	PHF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3034923	NM_001370348.2(PHF3):c.3276A>C (p.Glu1092Asp)	PHF3 (E1004D +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 3212174	NM_001370348.2(PHF3):c.3379C>T (p.Pro1127Ser)	PHF3 (P396S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616384	NM_001370348.2(PHF3):c.3385G>A (p.Val1129Ile)	PHF3 (V398I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618023	NM_001370348.2(PHF3):c.3463A>G (p.Ile1155Val)	PHF3 (I1067V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530791	NM_001370348.2(PHF3):c.3599C>T (p.Thr1200Ile)	PHF3 (T1200I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701851	NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter)	PHF3 (R1116* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance

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