CFAP73[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2643350	NM_001144872.3(CFAP73):c.5C>T (p.Ala2Val)	CFAP73 (A2V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2375445	NM_001144872.3(CFAP73):c.23A>G (p.Tyr8Cys)	CFAP73 (Y8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388032	NM_001144872.3(CFAP73):c.29G>T (p.Arg10Leu)	CFAP73 (R10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143658	NM_001144872.3(CFAP73):c.77A>G (p.Glu26Gly)	CFAP73 (E26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266521	NM_001144872.3(CFAP73):c.78G>C (p.Glu26Asp)	CFAP73 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377101	NM_001144872.3(CFAP73):c.100C>T (p.Arg34Cys)	CFAP73 (R34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266522	NM_001144872.3(CFAP73):c.119A>G (p.Gln40Arg)	CFAP73 (Q40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143651	NM_001144872.3(CFAP73):c.287A>G (p.Asn96Ser)	CFAP73 (N96S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143652	NM_001144872.3(CFAP73):c.340G>A (p.Val114Met)	CFAP73 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143654	NM_001144872.3(CFAP73):c.511G>A (p.Ala171Thr)	CFAP73 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143655	NM_001144872.3(CFAP73):c.524C>T (p.Ala175Val)	CFAP73 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143656	NM_001144872.3(CFAP73):c.698A>G (p.Lys233Arg)	CFAP73 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531515	NM_001144872.3(CFAP73):c.703A>G (p.Ile235Val)	CFAP73 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143657	NM_001144872.3(CFAP73):c.730A>G (p.Lys244Glu)	CFAP73 (K244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643351	NM_001144872.3(CFAP73):c.771C>T (p.Asn257=)	CFAP73	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488020	NM_001144872.3(CFAP73):c.776T>A (p.Phe259Tyr)	CFAP73 (F259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266523	NM_001144872.3(CFAP73):c.797A>G (p.Gln266Arg)	CFAP73 (Q266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387371	NM_001144872.3(CFAP73):c.830C>T (p.Thr277Met)	CFAP73 (T277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548005	NM_001144872.3(CFAP73):c.844G>C (p.Glu282Gln)	CFAP73 (E282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620641	NM_024072.4(DDX54):c.2633G>A (p.Arg878Gln)	CFAP73, DDX54 (R878Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081139	NM_024072.4(DDX54):c.2632C>T (p.Arg878Trp)	CFAP73, DDX54 (R878W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394024	NM_024072.4(DDX54):c.2624G>A (p.Gly875Asp)	CFAP73, DDX54 (G876D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081138	NM_024072.4(DDX54):c.2603G>A (p.Arg868Gln)	CFAP73, DDX54 (R868Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081137	NM_024072.4(DDX54):c.2593G>T (p.Ala865Ser)	CFAP73, DDX54 (A865S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459558	NM_024072.4(DDX54):c.2591G>T (p.Gly864Val)	CFAP73, DDX54 (G865V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3040986	NM_024072.4(DDX54):c.2570G>A (p.Arg857His)	CFAP73, DDX54 (R857H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DDX54-related disorder	GLikely benign
Select item 2311895	NM_024072.4(DDX54):c.2539C>G (p.Leu847Val)	CFAP73, DDX54 (L847V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 983407	NM_024072.4(DDX54):c.2537G>T (p.Gly846Val)	CFAP73, DDX54 (G846V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability	GUncertain significance
Select item 2227509	NM_024072.4(DDX54):c.2531G>A (p.Arg844His)	CFAP73, DDX54 (R845H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271371	NM_024072.4(DDX54):c.2530C>T (p.Arg844Cys)	CFAP73, DDX54 (R845C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1325619	NM_024072.4(DDX54):c.2500C>T (p.Arg834Cys)	DDX54, CFAP73 (R834C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	See cases	GUncertain significance
Select item 2495981	NM_024072.4(DDX54):c.2483A>G (p.Gln828Arg)	CFAP73, DDX54 (Q828R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3056831	NM_024072.4(DDX54):c.2462C>T (p.Pro821Leu)	CFAP73, DDX54 (P821L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DDX54-related disorder	GBenign
Select item 2253837	NM_024072.4(DDX54):c.2453G>A (p.Arg818Gln)	CFAP73, DDX54 (R818Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081134	NM_024072.4(DDX54):c.2423G>A (p.Arg808Gln)	CFAP73, DDX54 (R809Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3081133	NM_024072.4(DDX54):c.2414G>A (p.Gly805Asp)	CFAP73, DDX54 (G805D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1252006	NC_000012.11:g.113120652_115362584del	CFAP73, DDX54 +17 more	Deletion	Radial dysplasia +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 43