ClinVar for Gene (Select 100129175) - ClinVar

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Links from Gene

Items: 32

	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 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 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 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 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 2357395	NM_194302.4(CFAP65):c.4532A>G (p.His1511Arg)	CFAP65, LOC100129175 (H1511R)	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 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 1048944	NM_194302.4(CFAP65):c.5485C>A (p.Gln1829Lys)	CFAP65, LOC100129175 (Q1829K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 694534	NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)	CFAP65, LOC100129175 (E1781*)	Single nucleotide variant (nonsense)	Spermatogenic failure 40	GPathogenic
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
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32