PHF20[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3212125	NM_016436.5(PHF20):c.71G>A (p.Arg24His)	PHF20 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612349	NM_016436.5(PHF20):c.187C>T (p.Pro63Ser)	PHF20 (P63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212124	NM_016436.5(PHF20):c.317A>G (p.Lys106Arg)	PHF20 (K106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323104	NM_016436.5(PHF20):c.415G>C (p.Asp139His)	PHF20 (D139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725294	NM_016436.5(PHF20):c.648C>T (p.Asn216=)	PHF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390412	NM_016436.5(PHF20):c.704C>A (p.Ala235Asp)	PHF20 (A235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212126	NM_016436.5(PHF20):c.745C>T (p.Pro249Ser)	PHF20 (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279706	NM_016436.5(PHF20):c.817T>C (p.Ser273Pro)	PHF20 (S273P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599580	NM_016436.5(PHF20):c.890C>T (p.Pro297Leu)	PHF20 (P297L)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2467741	NM_016436.5(PHF20):c.947C>T (p.Ser316Leu)	PHF20 (S316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306134	NM_016436.5(PHF20):c.961A>C (p.Lys321Gln)	PHF20 (K321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384705	NM_016436.5(PHF20):c.1055C>T (p.Thr352Met)	PHF20 (T352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257911	NM_016436.5(PHF20):c.1135G>T (p.Val379Phe)	PHF20 (V379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306133	NM_016436.5(PHF20):c.1156C>T (p.His386Tyr)	PHF20 (H386Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299106	NM_016436.5(PHF20):c.1168G>C (p.Asp390His)	PHF20 (D390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399516	NM_016436.5(PHF20):c.1210A>G (p.Met404Val)	PHF20 (M404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471271	NM_016436.5(PHF20):c.1238C>T (p.Pro413Leu)	PHF20 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212114	NM_016436.5(PHF20):c.1249C>G (p.Leu417Val)	PHF20 (L417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212115	NM_016436.5(PHF20):c.1461G>C (p.Glu487Asp)	PHF20 (E487D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363465	NM_016436.5(PHF20):c.1469G>A (p.Gly490Glu)	PHF20 (G490E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212116	NM_016436.5(PHF20):c.1522G>C (p.Glu508Gln)	PHF20 (E508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517115	NM_016436.5(PHF20):c.1604A>T (p.Glu535Val)	PHF20 (E535V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371754	NM_016436.5(PHF20):c.1772C>T (p.Pro591Leu)	PHF20 (P591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710868	NM_016436.5(PHF20):c.1826-9T>G	PHF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786366	NM_016436.5(PHF20):c.1826-4G>A	PHF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3212117	NM_016436.5(PHF20):c.1826A>T (p.Glu609Val)	PHF20 (E609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717046	NM_016436.5(PHF20):c.1863T>C (p.Phe621=)	PHF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3212118	NM_016436.5(PHF20):c.1931G>A (p.Gly644Glu)	PHF20 (G644E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328048	NM_016436.5(PHF20):c.2140G>A (p.Glu714Lys)	PHF20 (E714K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212119	NM_016436.5(PHF20):c.2218G>A (p.Val740Met)	PHF20 (V740M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306132	NM_016436.5(PHF20):c.2237T>G (p.Leu746Arg)	PHF20 (L746R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212120	NM_016436.5(PHF20):c.2263G>A (p.Val755Ile)	PHF20 (V755I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336542	NM_016436.5(PHF20):c.2313T>A (p.His771Gln)	PHF20 (H771Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212121	NM_016436.5(PHF20):c.2353T>G (p.Ser785Ala)	PHF20 (S785A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212122	NM_016436.5(PHF20):c.2354C>T (p.Ser785Leu)	PHF20 (S785L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306136	NM_016436.5(PHF20):c.2386C>G (p.Pro796Ala)	PHF20 (P796A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717595	NM_016436.5(PHF20):c.2402G>C (p.Arg801Thr)	PHF20 (R801T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710869	NM_016436.5(PHF20):c.2481G>A (p.Pro827=)	PHF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3212123	NM_016436.5(PHF20):c.2533C>T (p.Arg845Cys)	PHF20 (R845C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708475	NM_016436.5(PHF20):c.2535C>T (p.Arg845=)	PHF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335298	NM_016436.5(PHF20):c.2585C>T (p.Ser862Phe)	PHF20 (S862F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599579	NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)	PHF20 (D865N)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2357698	NM_016436.5(PHF20):c.2600C>T (p.Ala867Val)	PHF20 (A867V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306135	NM_016436.5(PHF20):c.2607C>A (p.Asn869Lys)	PHF20 (N869K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211074	NM_016436.5(PHF20):c.2642C>T (p.Pro881Leu)	PHF20 (P881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476569	NM_016436.5(PHF20):c.2672G>A (p.Arg891Lys)	PHF20 (R891K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736101	NM_016436.5(PHF20):c.2721A>G (p.Glu907=)	PHF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3306131	NM_016436.5(PHF20):c.2878A>G (p.Ile960Val)	PHF20 (I960V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717047	NM_016436.5(PHF20):c.2897-6C>T	PHF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2237516	NM_016436.5(PHF20):c.2934G>C (p.Glu978Asp)	PHF20 (E978D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391365	NM_016436.5(PHF20):c.2959C>T (p.Pro987Ser)	PHF20 (P987S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 564616	GRCh37/hg19 20q11.22-11.23(chr20:34361161-34562300)x3	CNBD2, SCAND1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 394420	GRCh37/hg19 20q11.22-11.23(chr20:34398769-34541525)x3	PHF20	Copy number gain	See cases	GUncertain significance

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Items: 63