Related gene-specific medical variations for Gene (Select 79039) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 2378929	NM_024072.4(DDX54):c.91G>A (p.Gly31Ser)	DDX54, LOC130008828 (G31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2207737	NM_024072.4(DDX54):c.106G>A (p.Ala36Thr)	DDX54, LOC130008828 (A36T)	Single nucleotide variant (missense variant)	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 1213789	NM_024072.4(DDX54):c.1824G>C (p.Gln608His)	DDX54 (Q608H)	Single nucleotide variant (missense variant)	not provided	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 983389	NM_024072.4(DDX54):c.1381C>G (p.Leu461Val)	DDX54 (L461V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance

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Links from Gene

Items: 21