ClinVar for Gene (Select 255101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256948	NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter)	CFAP65, LOC100129175 (E1840*)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3250525	NM_194302.4(CFAP65):c.2157G>A (p.Pro719=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247494	NC_000002.11:g.(?_219646906)_(219942948_?)dup	CDK5R2, CFAP65 +9 more	Duplication	not provided	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3143620	NM_194302.4(CFAP65):c.98T>A (p.Leu33His)	CFAP65 (L33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143619	NM_194302.4(CFAP65):c.875C>T (p.Thr292Met)	CFAP65 (T227M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143618	NM_194302.4(CFAP65):c.4373G>A (p.Arg1458His)	CFAP65, LOC100129175 (R1458H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3143617	NM_194302.4(CFAP65):c.394A>G (p.Lys132Glu)	CFAP65 (K132E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052947	NM_194302.4(CFAP65):c.5153T>G (p.Phe1718Cys)	CFAP65, LOC100129175 (F1718C)	Single nucleotide variant (missense variant)	CFAP65-related disorder	GLikely benign
Select item 3026328	NM_194302.4(CFAP65):c.4185G>A (p.Ser1395=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025447	NM_194302.4(CFAP65):c.2211+49C>T	CFAP65	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2672860	NM_194302.4(CFAP65):c.15C>T (p.Thr5=)	CFAP65	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2664050	NM_194302.4(CFAP65):c.464G>C (p.Gly155Ala)	CFAP65 (G144A +2 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 40	GUncertain significance
Select item 2664049	NM_194302.4(CFAP65):c.1942C>T (p.Pro648Ser)	CFAP65 (P583S +2 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 40	GUncertain significance
Select item 2664048	NM_194302.4(CFAP65):c.4429C>T (p.Pro1477Ser)	CFAP65, LOC100129175 (P1477S)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 40	GUncertain significance
Select item 2651911	NM_194302.4(CFAP65):c.225C>T (p.Val75=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651910	NM_194302.4(CFAP65):c.960G>A (p.Thr320=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651909	NM_194302.4(CFAP65):c.1173C>T (p.Pro391=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651908	NM_194302.4(CFAP65):c.2083C>T (p.Pro695Ser)	CFAP65 (P630S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651907	NM_194302.4(CFAP65):c.3369C>T (p.Thr1123=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651906	NM_194302.4(CFAP65):c.3564C>A (p.Phe1188Leu)	CFAP65 (F1188L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651905	NM_194302.4(CFAP65):c.3701A>G (p.Asp1234Gly)	CFAP65, LOC100129175 (D1234G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2651904	NM_194302.4(CFAP65):c.3939C>T (p.Asp1313=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651903	NM_194302.4(CFAP65):c.5415G>A (p.Lys1805=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651902	NM_194302.4(CFAP65):c.5763T>C (p.Pro1921=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629507	NM_194302.4(CFAP65):c.3603G>A (p.Trp1201Ter)	CFAP65, LOC100129175 (W1201*)	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP65-related disorder	GLikely pathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2497792	NM_194302.4(CFAP65):c.2720C>T (p.Ser907Leu)	CFAP65 (S907L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497789	NM_194302.4(CFAP65):c.1228C>T (p.Pro410Ser)	CFAP65 (P345S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410022	NM_194302.4(CFAP65):c.1181T>C (p.Ile394Thr)	CFAP65 (I394T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398216	NM_194302.4(CFAP65):c.409G>A (p.Val137Met)	CFAP65 (V126M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396233	NM_194302.4(CFAP65):c.430G>A (p.Gly144Ser)	CFAP65 (G133S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394106	NM_194302.4(CFAP65):c.2278C>G (p.Arg760Gly)	CFAP65 (R760G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392909	NM_194302.4(CFAP65):c.3466C>T (p.Arg1156Trp)	CFAP65 (R1156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392232	NM_194302.4(CFAP65):c.2011C>T (p.Pro671Ser)	CFAP65 (P660S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377031	NM_194302.4(CFAP65):c.3425G>A (p.Arg1142His)	CFAP65 (R1142H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363520	NM_194302.4(CFAP65):c.1754G>A (p.Arg585Gln)	CFAP65 (R520Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361442	NM_194302.4(CFAP65):c.2140C>T (p.Arg714Cys)	CFAP65 (R703C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357395	NM_194302.4(CFAP65):c.4532A>G (p.His1511Arg)	CFAP65, LOC100129175 (H1511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318374	NM_194302.4(CFAP65):c.947A>C (p.Glu316Ala)	CFAP65 (E305A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313773	NM_194302.4(CFAP65):c.2408A>G (p.Lys803Arg)	CFAP65 (K803R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253360	NM_194302.4(CFAP65):c.3718A>G (p.Ile1240Val)	CFAP65, LOC100129175 (I1240V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2247271	NM_194302.4(CFAP65):c.643G>A (p.Ala215Thr)	CFAP65 (A215T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236158	NM_194302.4(CFAP65):c.330G>A (p.Met110Ile)	CFAP65 (M110I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226527	NM_194302.4(CFAP65):c.1946C>T (p.Pro649Leu)	CFAP65 (P649L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215558	NM_194302.4(CFAP65):c.1915G>A (p.Asp639Asn)	CFAP65 (D574N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212423	NM_194302.4(CFAP65):c.4942G>A (p.Ala1648Thr)	CFAP65, LOC100129175 (A1648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206467	NM_194302.4(CFAP65):c.4142C>T (p.Thr1381Ile)	CFAP65, LOC100129175 (T1381I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2160780	NM_194302.4(CFAP65):c.3602+1G>T	CFAP65	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2066848	NM_194302.4(CFAP65):c.400C>T (p.Gln134Ter)	CFAP65 (Q123* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	SPEG, TMEM198 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1335444	NM_194302.4(CFAP65):c.2765G>A (p.Arg922Gln)	CFAP65 (R922Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050493	NM_194302.4(CFAP65):c.3031T>A (p.Ser1011Thr)	CFAP65 (S1011T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049308	NM_194302.4(CFAP65):c.2458G>A (p.Val820Ile)	CFAP65 (V820I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1048944	NM_194302.4(CFAP65):c.5485C>A (p.Gln1829Lys)	CFAP65, LOC100129175 (Q1829K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030448	NM_194302.4(CFAP65):c.1489G>A (p.Ala497Thr)	CFAP65 (A486T +2 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 40	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980008	GRCh37/hg19 2q35(chr2:219797684-220088582)x3	CRYBA2, SLC23A3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 916252	NM_194302.4(CFAP65):c.3893A>T (p.His1298Leu)	CFAP65, LOC100129175 (H1298L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 791890	NM_194302.4(CFAP65):c.3693C>T (p.Arg1231=)	CFAP65, LOC100129175	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 785857	NM_194302.4(CFAP65):c.2279G>A (p.Arg760Gln)	CFAP65 (R760Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783354	NM_194302.4(CFAP65):c.1957G>A (p.Val653Ile)	CFAP65 (V588I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783209	NM_194302.4(CFAP65):c.2919C>T (p.Pro973=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 780365	NM_194302.4(CFAP65):c.5718G>A (p.Leu1906=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775820	NM_194302.4(CFAP65):c.4634G>A (p.Arg1545Gln)	CFAP65, LOC100129175 (R1545Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775819	NM_194302.4(CFAP65):c.4966T>C (p.Ser1656Pro)	CFAP65, LOC100129175 (S1656P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775818	NM_194302.4(CFAP65):c.5442C>T (p.Ile1814=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775817	NM_194302.4(CFAP65):c.5775G>A (p.Pro1925=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716839	NM_194302.4(CFAP65):c.3381G>C (p.Leu1127=)	CFAP65	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712975	NM_194302.4(CFAP65):c.4567C>T (p.Leu1523=)	CFAP65, LOC100129175	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709633	NM_194302.4(CFAP65):c.5186C>G (p.Pro1729Arg)	CFAP65, LOC100129175 (P1729R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 694583	NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter)	CFAP65 (W892*)	Single nucleotide variant (nonsense)	Spermatogenic failure 40	GPathogenic
Select item 694536	NM_194302.4(CFAP65):c.1580del (p.Leu527fs)	CFAP65 (L462fs +2 more)	Deletion (frameshift variant)	Spermatogenic failure 40	GPathogenic
Select item 694535	NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter)	CFAP65 (R762*)	Single nucleotide variant (nonsense)	Spermatogenic failure 40	GPathogenic
Select item 694534	NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)	CFAP65, LOC100129175 (E1781*)	Single nucleotide variant (nonsense)	Spermatogenic failure 40	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 161813	NM_194302.4(CFAP65):c.542+58del	CFAP65 (L136fs)	Deletion (frameshift variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic

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