PHF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 3044205	NM_005392.4(PHF2):c.-18GCGGC[4]	PHF2	Microsatellite (5 prime UTR variant)	PHF2-related disorder	GLikely benign
Select item 2621720	NM_005392.4(PHF2):c.16G>A (p.Val6Met)	PHF2 (V6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475531	NM_005392.4(PHF2):c.196C>T (p.Arg66Trp)	PHF2 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399781	NM_005392.4(PHF2):c.214G>T (p.Gly72Cys)	PHF2 (G72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212108	NM_005392.4(PHF2):c.244G>A (p.Val82Met)	PHF2 (V82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411057	NM_005392.4(PHF2):c.287G>A (p.Arg96Gln)	PHF2 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731722	NM_005392.4(PHF2):c.299+7T>A	PHF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278335	NM_005392.4(PHF2):c.309C>T (p.Asp103=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402333	NM_005392.4(PHF2):c.320G>A (p.Arg107His)	PHF2 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686052	NM_005392.4(PHF2):c.325C>T (p.Pro109Ser)	PHF2 (P109S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3038246	NM_005392.4(PHF2):c.342G>A (p.Thr114=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GBenign
Select item 2476847	NM_005392.4(PHF2):c.350A>G (p.Tyr117Cys)	PHF2 (Y117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262733	NM_005392.4(PHF2):c.372C>T (p.Thr124=)	PHF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3041334	NM_005392.4(PHF2):c.399C>T (p.Asp133=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 3212113	NM_005392.4(PHF2):c.504G>T (p.Lys168Asn)	PHF2 (K168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308186	NM_005392.4(PHF2):c.556C>T (p.Arg186Cys)	PHF2 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405738	NM_005392.4(PHF2):c.563G>A (p.Arg188Gln)	PHF2 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261516	NM_005392.4(PHF2):c.574G>A (p.Val192Ile)	PHF2 (V192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318351	NM_005392.4(PHF2):c.718T>C (p.Cys240Arg)	PHF2 (C240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791301	NM_005392.4(PHF2):c.789+10G>A	PHF2	Single nucleotide variant (intron variant)	PHF2-related disorder +1 more	GBenign/Likely benign
Select item 3041221	NM_005392.4(PHF2):c.819G>A (p.Pro273=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 3042745	NM_005392.4(PHF2):c.825G>A (p.Ser275=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GBenign
Select item 2689690	NM_005392.4(PHF2):c.854G>T (p.Arg285Leu)	PHF2 (R285L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526004	NM_005392.4(PHF2):c.898G>A (p.Asp300Asn)	PHF2 (D300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479105	NM_005392.4(PHF2):c.1069C>G (p.Leu357Val)	PHF2 (L357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288642	NM_005392.4(PHF2):c.1086G>C (p.Gln362His)	PHF2 (Q362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391339	NM_005392.4(PHF2):c.1106C>T (p.Ala369Val)	PHF2 (A369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284749	NM_005392.4(PHF2):c.1180C>T (p.His394Tyr)	PHF2 (H394Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551329	NM_005392.4(PHF2):c.1333G>A (p.Ala445Thr)	PHF2 (A445T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272265	NM_005392.4(PHF2):c.1340A>G (p.Lys447Arg)	PHF2 (K447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789024	NM_005392.4(PHF2):c.1345G>A (p.Val449Ile)	PHF2 (V449I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2561040	NM_005392.4(PHF2):c.1352C>T (p.Pro451Leu)	PHF2 (P451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040351	NM_005392.4(PHF2):c.1439C>T (p.Pro480Leu)	PHF2 (P480L)	Single nucleotide variant (missense variant)	PHF2-related disorder	GLikely benign
Select item 2627850	NM_005392.4(PHF2):c.1475dup (p.Thr493fs)	PHF2 (T493fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2293539	NM_005392.4(PHF2):c.1493A>C (p.Lys498Thr)	PHF2 (K498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313335	NM_005392.4(PHF2):c.1523C>A (p.Pro508His)	PHF2 (P508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633260	NM_005392.4(PHF2):c.1579G>A (p.Gly527Ser)	PHF2 (G527S)	Single nucleotide variant (missense variant)	PHF2-related disorder	GUncertain significance
Select item 2211686	NM_005392.4(PHF2):c.1613C>T (p.Ala538Val)	PHF2 (A538V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212102	NM_005392.4(PHF2):c.1624A>G (p.Ile542Val)	PHF2 (I542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212103	NM_005392.4(PHF2):c.1631A>G (p.Asn544Ser)	PHF2 (N544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041892	NM_005392.4(PHF2):c.1644C>T (p.Leu548=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GBenign
Select item 3212104	NM_005392.4(PHF2):c.1835C>G (p.Ser612Cys)	PHF2 (S612C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057561	NM_005392.4(PHF2):c.1887A>G (p.Gly629=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 2378289	NM_005392.4(PHF2):c.1921A>T (p.Asn641Tyr)	PHF2 (N641Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429883	NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)	PHF2 (N641K)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 733486	NM_005392.4(PHF2):c.1935C>T (p.Leu645=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2569068	NM_005392.4(PHF2):c.1954C>A (p.Pro652Thr)	PHF2 (P652T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689689	NM_005392.4(PHF2):c.1958C>T (p.Pro653Leu)	PHF2 (P653L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317748	NM_005392.4(PHF2):c.1981G>A (p.Ala661Thr)	PHF2 (A661T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456742	NM_005392.4(PHF2):c.2012A>C (p.Lys671Thr)	PHF2 (K671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263828	NM_005392.4(PHF2):c.2091A>C (p.Lys697Asn)	PHF2 (K697N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232758	NM_005392.4(PHF2):c.2099C>G (p.Pro700Arg)	PHF2 (P700R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287204	NM_005392.4(PHF2):c.2156C>T (p.Thr719Met)	PHF2 (T719M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341371	NM_005392.4(PHF2):c.2164A>G (p.Lys722Glu)	PHF2 (K722E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049578	NM_005392.4(PHF2):c.2174C>T (p.Ser725Leu)	PHF2 (S725L)	Single nucleotide variant (missense variant)	PHF2-related disorder	GLikely benign
Select item 781169	NM_005392.4(PHF2):c.2175G>A (p.Ser725=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217199	NM_005392.4(PHF2):c.2180C>T (p.Ala727Val)	PHF2 (A727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776435	NM_005392.4(PHF2):c.2214G>A (p.Ser738=)	PHF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3212105	NM_005392.4(PHF2):c.2223C>G (p.Ile741Met)	PHF2 (I741M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341070	NM_005392.4(PHF2):c.2254A>G (p.Arg752Gly)	PHF2 (R752G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335247	NM_005392.4(PHF2):c.2270G>A (p.Ser757Asn)	PHF2 (S757N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483096	NM_005392.4(PHF2):c.2326G>A (p.Ala776Thr)	PHF2 (A776T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466388	NM_005392.4(PHF2):c.2345G>A (p.Ser782Asn)	PHF2 (S782N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2659315	NM_005392.4(PHF2):c.2349-2312_2349-2310del	PHF2	Deletion (intron variant)	not provided	GLikely benign
Select item 709466	NM_005392.4(PHF2):c.2358G>A (p.Pro786=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778436	NM_005392.4(PHF2):c.2421C>T (p.Ser807=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212107	NM_005392.4(PHF2):c.2444G>T (p.Trp815Leu)	PHF2 (W815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212109	NM_005392.4(PHF2):c.2468G>A (p.Ser823Asn)	PHF2 (S823N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593578	NM_005392.4(PHF2):c.2506G>T (p.Gly836Cys)	PHF2 (G836C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041371	NM_005392.4(PHF2):c.2519G>A (p.Ser840Asn)	PHF2 (S840N)	Single nucleotide variant (missense variant)	PHF2-related disorder	GBenign
Select item 2275580	NM_005392.4(PHF2):c.2521G>A (p.Ala841Thr)	PHF2 (A841T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322909	NM_005392.4(PHF2):c.2559T>G (p.Ser853Arg)	PHF2 (S853R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161633	NM_005392.4(PHF2):c.2563G>A (p.Asp855Asn)	PHF2 (D855N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050762	NM_005392.4(PHF2):c.2595C>T (p.His865=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 729446	NM_005392.4(PHF2):c.2679G>A (p.Ser893=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3212110	NM_005392.4(PHF2):c.2740G>A (p.Val914Met)	PHF2 (V914M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560709	NM_005392.4(PHF2):c.2797G>A (p.Gly933Arg)	PHF2 (G933R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212111	NM_005392.4(PHF2):c.2804C>T (p.Ala935Val)	PHF2 (A935V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537244	NM_005392.4(PHF2):c.2846G>A (p.Ser949Asn)	PHF2 (S949N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993631	NM_005392.4(PHF2):c.2857_2858del (p.Lys953fs)	PHF2 (K953fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1270602	NM_005392.4(PHF2):c.2963_2964insTGCCTCCACCACACC (p.982TPAST[4])	PHF2	Insertion (inframe_insertion)	not provided	GBenign
Select item 2304759	NM_005392.4(PHF2):c.2963C>T (p.Pro988Leu)	PHF2 (P988L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722562	NM_005392.4(PHF2):c.2964G>T (p.Pro988=)	PHF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2659316	NM_005392.4(PHF2):c.2976C>A (p.Thr992=)	PHF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631238	NM_005392.4(PHF2):c.3059G>C (p.Ser1020Thr)	PHF2 (S1020T)	Single nucleotide variant (missense variant)	PHF2-related disorder	GUncertain significance

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