PHF23[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 2272035	NM_024297.3(PHF23):c.1170G>C (p.Glu390Asp)	PHF23 (E323D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243746	NM_024297.3(PHF23):c.1118C>A (p.Thr373Asn)	PHF23 (T306N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262218	NM_024297.3(PHF23):c.850C>T (p.Pro284Ser)	PHF23 (P217S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212155	NM_024297.3(PHF23):c.835C>T (p.Pro279Ser)	PHF23 (P275S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623934	NM_024297.3(PHF23):c.814G>C (p.Val272Leu)	PHF23 (V272L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283868	NM_024297.3(PHF23):c.787G>A (p.Ala263Thr)	PHF23 (A259T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298240	NM_024297.3(PHF23):c.738C>G (p.Asp246Glu)	PHF23 (D179E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595677	NM_024297.3(PHF23):c.721C>T (p.Pro241Ser)	PHF23 (P174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553926	NM_024297.3(PHF23):c.688G>T (p.Asp230Tyr)	PHF23 (D226Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520073	NM_024297.3(PHF23):c.683G>A (p.Arg228Gln)	PHF23 (R161Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212154	NM_024297.3(PHF23):c.682C>T (p.Arg228Trp)	PHF23 (R224W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212153	NM_024297.3(PHF23):c.586T>A (p.Phe196Ile)	PHF23 (F192I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321543	NM_024297.3(PHF23):c.583G>A (p.Gly195Ser)	PHF23 (G191S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315984	NM_024297.3(PHF23):c.458C>T (p.Ser153Phe)	PHF23 (S149F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290745	NM_024297.3(PHF23):c.377C>A (p.Thr126Asn)	PHF23 (T122N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460768	NM_024297.3(PHF23):c.364C>T (p.Pro122Ser)	PHF23 (P122S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212152	NM_024297.3(PHF23):c.353G>A (p.Arg118His)	PHF23 (R114H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485788	NM_024297.3(PHF23):c.352C>T (p.Arg118Cys)	PHF23 (R114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382010	NM_024297.3(PHF23):c.250C>T (p.Leu84Phe)	PHF23 (L80F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212151	NM_024297.3(PHF23):c.191C>A (p.Ser64Tyr)	PHF23 (S60Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212150	NM_024297.3(PHF23):c.190T>A (p.Ser64Thr)	PHF23 (S60T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462616	NM_024297.3(PHF23):c.92T>C (p.Ile31Thr)	PHF23 (I27T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359104	NM_024297.3(PHF23):c.59A>G (p.Glu20Gly)	PHF23 (E16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809052	GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3	ACADVL, ASGR1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 980124	GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1	GPS2, NEURL4 +16 more	Copy number loss	not provided	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442228	GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1	ACADVL, ACAP1 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 221528	GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3	ACADVL, CLDN7 +7 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221393	GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3	ACADVL, CLDN7 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 57