"GeneDx"[submitter] AND "PHF8"[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 3372396	NM_015107.3(PHF8):c.3011C>A (p.Ala1004Asp)	PHF8 (A1004D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804418	NM_015107.3(PHF8):c.2993G>A (p.Arg998His)	PHF8 (R1034H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195530	NM_015107.3(PHF8):c.2986+4C>A	PHF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571894	NM_015107.3(PHF8):c.2980G>A (p.Gly994Arg)	PHF8 (G1030R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451072	NM_015107.3(PHF8):c.2969G>A (p.Ser990Asn)	PHF8 (S990N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577656	NM_015107.3(PHF8):c.2945G>A (p.Arg982Gln)	PHF8 (R1018Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578125	NM_015107.3(PHF8):c.2909C>T (p.Thr970Ile)	PHF8 (T1006I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479263	NM_015107.3(PHF8):c.2902C>T (p.Arg968Cys)	PHF8 (R968C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313799	NM_015107.3(PHF8):c.2848G>A (p.Ala950Thr)	PHF8 (A849T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136074	NM_015107.3(PHF8):c.2837C>T (p.Ser946Leu)	PHF8 (S845L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663332	NM_015107.3(PHF8):c.2810C>T (p.Pro937Leu)	PHF8 (P836L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326170	NM_015107.3(PHF8):c.2809C>A (p.Pro937Thr)	PHF8 (P836T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211903	NM_015107.3(PHF8):c.2720G>A (p.Arg907His)	PHF8 (R907H +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 817530	NM_015107.3(PHF8):c.2713C>T (p.Gln905Ter)	PHF8 (Q941* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3373242	NM_015107.3(PHF8):c.2662G>T (p.Ala888Ser)	PHF8 (A787S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699757	NM_015107.3(PHF8):c.2636A>T (p.Lys879Met)	PHF8 (K778M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340615	NM_015107.3(PHF8):c.2614G>A (p.Gly872Ser)	PHF8 (G771S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432316	NM_015107.3(PHF8):c.2572C>T (p.Arg858Cys)	PHF8 (R858C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804307	NM_015107.3(PHF8):c.2540C>T (p.Ala847Val)	PHF8 (A746V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506809	NM_015107.3(PHF8):c.2522C>T (p.Ala841Val)	PHF8 (A740V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582170	NM_015107.3(PHF8):c.2476C>T (p.Pro826Ser)	PHF8 (P725S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662466	NM_015107.3(PHF8):c.2332C>T (p.Arg778Trp)	PHF8 (R677W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442716	NM_015107.3(PHF8):c.2308G>C (p.Ala770Pro)	PHF8 (A669P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663244	NM_015107.3(PHF8):c.2305C>T (p.Pro769Ser)	PHF8 (P668S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444538	NM_015107.3(PHF8):c.2291C>A (p.Thr764Lys)	PHF8 (T663K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878824	NM_015107.3(PHF8):c.2257C>T (p.Arg753Ter)	PHF8 (R652* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1722875	NM_015107.3(PHF8):c.2234C>T (p.Ala745Val)	PHF8 (A644V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194867	NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter)	PHF8 (S737* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2504702	NM_015107.3(PHF8):c.2156A>C (p.Gln719Pro)	PHF8 (Q618P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371622	NM_015107.3(PHF8):c.2146C>T (p.Pro716Ser)	PHF8 (P615S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 1303569	NM_015107.3(PHF8):c.2117A>G (p.Tyr706Cys)	PHF8 (Y605C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1218781	NM_015107.3(PHF8):c.2078A>G (p.Asp693Gly)	PHF8 (D592G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703914	NM_015107.3(PHF8):c.2054G>T (p.Gly685Val)	PHF8 (G584V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369936	NM_015107.3(PHF8):c.1946C>G (p.Ser649Cys)	PHF8 (S548C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306519	NM_015107.3(PHF8):c.1916C>T (p.Pro639Leu)	PHF8 (P538L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363308	NM_015107.3(PHF8):c.1854G>C (p.Glu618Asp)	PHF8 (E517D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817465	NM_015107.3(PHF8):c.1772dup (p.Ile592fs)	PHF8 (I491fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 194540	NM_015107.3(PHF8):c.1731-1G>A	PHF8	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1329535	NM_015107.3(PHF8):c.1693A>G (p.Asn565Asp)	PHF8 (N464D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503234	NM_015107.3(PHF8):c.1672C>A (p.Pro558Thr)	PHF8 (P457T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987442	NM_015107.3(PHF8):c.1615C>T (p.Gln539Ter)	PHF8 (Q539* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2499813	NM_015107.3(PHF8):c.1550C>T (p.Ala517Val)	PHF8 (A517V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313775	NM_015107.3(PHF8):c.1522G>T (p.Gly508Cys)	PHF8 (G508C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307092	NM_015107.3(PHF8):c.1379T>A (p.Ile460Asn)	PHF8 (I460N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572858	NM_015107.3(PHF8):c.1360A>C (p.Ile454Leu)	PHF8 (I454L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423906	NM_015107.3(PHF8):c.1343T>C (p.Val448Ala)	PHF8 (V448A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1693395	NM_015107.3(PHF8):c.1313G>A (p.Arg438His)	PHF8 (R438H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305647	NM_015107.3(PHF8):c.1312C>T (p.Arg438Cys)	PHF8 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3373508	NM_015107.3(PHF8):c.1297C>A (p.Leu433Met)	PHF8 (L433M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576710	NM_015107.3(PHF8):c.1293A>C (p.Lys431Asn)	PHF8 (K431N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303425	NM_015107.3(PHF8):c.947-13T>G	PHF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3369556	NM_015107.3(PHF8):c.854C>T (p.Ser285Phe)	PHF8 (S285F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817490	NM_015107.3(PHF8):c.368dup (p.Pro124fs)	PHF8 (P124fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2430482	NM_015107.3(PHF8):c.268G>A (p.Glu90Lys)	PHF8 (E126K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199843	NM_015107.3(PHF8):c.257C>T (p.Thr86Met)	PHF8 (T122M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450873	NM_015107.3(PHF8):c.247G>A (p.Gly83Arg)	PHF8 (G83R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516469	NM_015107.3(PHF8):c.219T>A (p.Asp73Glu)	PHF8 (D73E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 211902	NM_015107.3(PHF8):c.214C>A (p.His72Asn)	PHF8 (H72N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030461	NM_015107.3(PHF8):c.197G>A (p.Arg66His)	PHF8 (R66H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 817250	NM_015107.3(PHF8):c.192dup (p.Arg65fs)	PHF8 (R101fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 451824	NM_015107.3(PHF8):c.122dup (p.Ala42fs)	PHF8 (A78fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2580777	NM_015107.3(PHF8):c.-93+1G>C	PHF8	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1698048	NM_001184896.1(PHF8):c.9G>C (p.Arg3Ser)	LOC130068319, PHF8 (R3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253410	GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3	ZXDB, PHF8 +37 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3361608	NM_015107.3(PHF8):c.1021G>A (p.Glu341Lys)	PHF8 (E341K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 84