PSMF1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 58940	GRCh38/hg38 20p13(chr20:828964-1241192)x3	ANGPT4, C20orf202 +21 more	Copy number gain	See cases	GUncertain significance
Select item 3220506	NM_006814.5(PSMF1):c.14A>G (p.Glu5Gly)	PSMF1 (E5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220505	NM_006814.5(PSMF1):c.116G>C (p.Gly39Ala)	PSMF1 (G39A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466251	NM_006814.5(PSMF1):c.131C>G (p.Pro44Arg)	PSMF1 (P44R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 732687	NM_006814.5(PSMF1):c.132G>A (p.Pro44=)	PSMF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2371056	NM_006814.5(PSMF1):c.140A>G (p.Asn47Ser)	PSMF1 (N47S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2596060	NM_006814.5(PSMF1):c.218A>G (p.Asp73Gly)	PSMF1 (D73G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472689	NM_006814.5(PSMF1):c.349C>G (p.Leu117Val)	PSMF1 (L29V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403560	NM_006814.5(PSMF1):c.398G>A (p.Arg133His)	PSMF1 (R45H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369713	NM_006814.5(PSMF1):c.410G>C (p.Gly137Ala)	PSMF1 (G49A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299314	NM_006814.5(PSMF1):c.419C>T (p.Thr140Ile)	PSMF1 (T140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543682	NM_006814.5(PSMF1):c.421C>T (p.Pro141Ser)	PSMF1 (P141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220508	NM_006814.5(PSMF1):c.422C>T (p.Pro141Leu)	PSMF1 (P141L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220509	NM_006814.5(PSMF1):c.448A>G (p.Asn150Asp)	PSMF1 (N150D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724436	NM_006814.5(PSMF1):c.466C>T (p.Arg156Trp)	PSMF1 (R156W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221380	NM_006814.5(PSMF1):c.467G>A (p.Arg156Gln)	PSMF1 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236524	NM_006814.5(PSMF1):c.487G>A (p.Ala163Thr)	PSMF1 (A75T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300467	NM_006814.5(PSMF1):c.539G>A (p.Arg180Gln)	PSMF1 (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743026	NM_006814.5(PSMF1):c.570G>A (p.Pro190=)	PSMF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785834	NM_006814.5(PSMF1):c.575T>C (p.Val192Ala)	PSMF1 (V104A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595063	NM_006814.5(PSMF1):c.611G>A (p.Arg204Gln)	PSMF1 (R116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592142	NM_006814.5(PSMF1):c.746T>C (p.Ile249Thr)	PSMF1 (I249T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353629	NM_006814.5(PSMF1):c.754A>T (p.Ser252Cys)	PSMF1 (S252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220511	NM_006814.5(PSMF1):c.808T>C (p.Tyr270His)	PSMF1 (Y270H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	CSTL1, DDRGK1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	ADAM33, ADISSP +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1809250	GRCh37/hg19 20p13(chr20:992980-1481478)x4	C20orf202, FKBP1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808289	GRCh37/hg19 20p13(chr20:1015167-1403720)x3	C20orf202, FKBP1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 816104	GRCh37/hg19 20p13(chr20:989820-1216980)x3	C20orf202, RAD21L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 688959	GRCh37/hg19 20p13(chr20:728577-1237670)x4	ANGPT4, C20orf202 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443574	GRCh37/hg19 20p13(chr20:381794-1268103)x3	ANGPT4, C20orf202 +13 more	Copy number gain	See cases	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)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 74