CFAP45[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2299244	NM_012337.3(CFAP45):c.1618C>T (p.Arg540Cys)	CFAP45 (R540C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143501	NM_012337.3(CFAP45):c.1555A>T (p.Arg519Trp)	CFAP45 (R519W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618750	NM_012337.3(CFAP45):c.1552A>G (p.Lys518Glu)	CFAP45 (K518E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266450	NM_012337.3(CFAP45):c.1543G>A (p.Asp515Asn)	CFAP45 (D515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143500	NM_012337.3(CFAP45):c.1538G>T (p.Arg513Leu)	CFAP45 (R513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208092	NM_012337.3(CFAP45):c.1538G>A (p.Arg513His)	CFAP45 (R513H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207014	NM_012337.3(CFAP45):c.1537C>T (p.Arg513Cys)	CFAP45 (R513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483423	NM_012337.3(CFAP45):c.1524G>C (p.Gln508His)	CFAP45 (Q508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639486	NM_012337.3(CFAP45):c.1521C>T (p.Ala507=)	CFAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471971	NM_012337.3(CFAP45):c.1496A>G (p.Glu499Gly)	CFAP45 (E499G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460491	NM_012337.3(CFAP45):c.1477C>G (p.Arg493Gly)	CFAP45 (R493G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319990	NM_012337.3(CFAP45):c.1472_1477delinsT (p.Gln491fs)	CFAP45 (Q491fs)	Indel (frameshift variant)	Heterotaxy, visceral, 11, autosomal, with male infertility	GPathogenic
Select item 2539849	NM_012337.3(CFAP45):c.1447C>A (p.Arg483Ser)	CFAP45 (R483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603329	NM_012337.3(CFAP45):c.1439G>C (p.Arg480Pro)	CFAP45 (R480P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382412	NM_012337.3(CFAP45):c.1438C>T (p.Arg480Cys)	CFAP45 (R480C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517841	NM_012337.3(CFAP45):c.1435C>T (p.Arg479Trp)	CFAP45 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266449	NM_012337.3(CFAP45):c.1421A>T (p.His474Leu)	CFAP45 (H474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456685	NM_012337.3(CFAP45):c.1412G>A (p.Arg471His)	CFAP45 (R471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521235	NM_012337.3(CFAP45):c.1381C>T (p.Arg461Trp)	CFAP45 (R461W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510025	NM_012337.3(CFAP45):c.1358A>G (p.Gln453Arg)	CFAP45 (Q453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639487	NM_012337.3(CFAP45):c.1326C>T (p.Asp442=)	CFAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143498	NM_012337.3(CFAP45):c.1282G>T (p.Val428Leu)	CFAP45 (V428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596318	NM_012337.3(CFAP45):c.1210A>G (p.Arg404Gly)	CFAP45 (R404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556854	NM_012337.3(CFAP45):c.1202A>G (p.Glu401Gly)	CFAP45 (E401G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279005	NM_012337.3(CFAP45):c.1186G>A (p.Glu396Lys)	CFAP45 (E396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590617	NM_012337.3(CFAP45):c.1178G>A (p.Arg393His)	CFAP45 (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599564	NM_012337.3(CFAP45):c.1177C>A (p.Arg393Ser)	CFAP45 (R393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341788	NM_012337.3(CFAP45):c.1168C>A (p.Arg390=)	CFAP45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551521	NM_012337.3(CFAP45):c.1112G>T (p.Arg371Leu)	CFAP45 (R371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532159	NM_012337.3(CFAP45):c.1071G>T (p.Glu357Asp)	CFAP45 (E357D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621347	NM_012337.3(CFAP45):c.1023G>A (p.Met341Ile)	CFAP45 (M341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143497	NM_012337.3(CFAP45):c.1013A>G (p.Gln338Arg)	CFAP45 (Q338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511673	NM_012337.3(CFAP45):c.958G>T (p.Asp320Tyr)	CFAP45 (D320Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2378651	NM_012337.3(CFAP45):c.949C>T (p.Arg317Cys)	CFAP45 (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298609	NM_012337.3(CFAP45):c.948G>T (p.Lys316Asn)	CFAP45 (K316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319988	NM_012337.3(CFAP45):c.907C>T (p.Arg303Ter)	CFAP45 (R303*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 11, autosomal, with male infertility	GPathogenic
Select item 2550028	NM_012337.3(CFAP45):c.869T>C (p.Met290Thr)	CFAP45 (M290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208183	NM_012337.3(CFAP45):c.836G>A (p.Arg279Gln)	CFAP45 (R279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143507	NM_012337.3(CFAP45):c.775C>T (p.Arg259Trp)	CFAP45 (R259W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319987	NM_012337.3(CFAP45):c.721C>T (p.Gln241Ter)	CFAP45 (Q241*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 11, autosomal, with male infertility	GPathogenic
Select item 2639488	NM_012337.3(CFAP45):c.680G>A (p.Arg227Gln)	CFAP45 (R227Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 791816	NM_012337.3(CFAP45):c.665A>G (p.Asp222Gly)	CFAP45 (D222G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3143506	NM_012337.3(CFAP45):c.619C>T (p.Arg207Trp)	CFAP45 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297911	NM_012337.3(CFAP45):c.553A>C (p.Met185Leu)	CFAP45 (M185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329100	NM_012337.3(CFAP45):c.551G>A (p.Arg184Gln)	CFAP45 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143505	NM_012337.3(CFAP45):c.515G>A (p.Arg172Gln)	CFAP45 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319989	NM_012337.3(CFAP45):c.452_464del (p.Gln151fs)	CFAP45 (Q151fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 11, autosomal, with male infertility	GPathogenic
Select item 3143504	NM_012337.3(CFAP45):c.446T>C (p.Met149Thr)	CFAP45 (M149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266448	NM_012337.3(CFAP45):c.298G>C (p.Glu100Gln)	CFAP45 (E100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143502	NM_012337.3(CFAP45):c.250C>T (p.Arg84Trp)	CFAP45, LOC126805888 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265474	NM_012337.3(CFAP45):c.221G>A (p.Arg74His)	CFAP45, LOC126805888 (R74H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284854	NM_012337.3(CFAP45):c.205G>A (p.Ala69Thr)	CFAP45, LOC126805888 (A69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284853	NM_012337.3(CFAP45):c.181C>A (p.His61Asn)	CFAP45, LOC126805888 (H61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512588	NM_012337.3(CFAP45):c.170T>G (p.Leu57Arg)	CFAP45, LOC126805888 (L57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210955	NM_012337.3(CFAP45):c.169C>T (p.Leu57Phe)	CFAP45, LOC126805888 (L57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524386	NM_012337.3(CFAP45):c.157C>A (p.Pro53Thr)	CFAP45 (P53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311252	NM_012337.3(CFAP45):c.125T>C (p.Ile42Thr)	CFAP45 (I42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143503	NM_012337.3(CFAP45):c.43G>C (p.Ala15Pro)	CFAP45 (A15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395426	GRCh37/hg19 1q23.2(chr1:159824090-159857739)x1	CFAP45, SNHG28 +1 more	Copy number loss	See cases	GLikely benign

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Items: 70