"Ambry Genetics"[submitter] AND "CDYL"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141775	NM_004824.4(CDYL):c.172C>T (p.Arg58Cys)	CDYL (R112C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141776	NM_004824.4(CDYL):c.188A>C (p.Gln63Pro)	CDYL (Q63P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2324249	NM_004824.4(CDYL):c.260C>T (p.Thr87Ile)	CDYL (T141I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3265643	NM_004824.4(CDYL):c.307A>C (p.Lys103Gln)	CDYL (K157Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141777	NM_004824.4(CDYL):c.358A>G (p.Arg120Gly)	CDYL (R120G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2518621	NM_004824.4(CDYL):c.388C>T (p.Arg130Trp)	CDYL (R130W +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2354930	NM_004824.4(CDYL):c.389G>A (p.Arg130Gln)	CDYL (R184Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2259852	NM_004824.4(CDYL):c.412T>A (p.Ser138Thr)	CDYL (S138T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320464	NM_004824.4(CDYL):c.445G>T (p.Val149Phe)	CDYL (V203F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388138	NM_004824.4(CDYL):c.469G>A (p.Gly157Ser)	CDYL (G25S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141778	NM_004824.4(CDYL):c.508G>A (p.Glu170Lys)	CDYL (E170K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265642	NM_004824.4(CDYL):c.538G>C (p.Glu180Gln)	CDYL (E48Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265638	NM_004824.4(CDYL):c.544G>T (p.Ala182Ser)	CDYL (A50S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235575	NM_004824.4(CDYL):c.562G>A (p.Gly188Arg)	CDYL (G242R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454526	NM_004824.4(CDYL):c.631C>T (p.Pro211Ser)	CDYL (P79S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257811	NM_004824.4(CDYL):c.652A>G (p.Thr218Ala)	CDYL (T86A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463049	NM_004824.4(CDYL):c.661A>G (p.Met221Val)	CDYL (M221V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265641	NM_004824.4(CDYL):c.706A>C (p.Met236Leu)	CDYL (M1L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3141779	NM_004824.4(CDYL):c.724A>G (p.Asn242Asp)	CDYL (N242D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220166	NM_004824.4(CDYL):c.725A>G (p.Asn242Ser)	CDYL (N110S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265637	NM_004824.4(CDYL):c.779A>G (p.Lys260Arg)	CDYL (K128R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141780	NM_004824.4(CDYL):c.985G>A (p.Ala329Thr)	CDYL (A197T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599078	NM_004824.4(CDYL):c.991G>A (p.Asp331Asn)	CDYL (D309N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348889	NM_004824.4(CDYL):c.1021G>A (p.Val341Ile)	CDYL (V209I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211794	NM_004824.4(CDYL):c.1075A>G (p.Thr359Ala)	CDYL (T337A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492737	NM_004824.4(CDYL):c.1351A>G (p.Ser451Gly)	CDYL (S216G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494428	NM_004824.4(CDYL):c.1441G>A (p.Val481Ile)	CDYL (V459I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460785	NM_004824.4(CDYL):c.1474G>C (p.Val492Leu)	CDYL (V360L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141773	NM_004824.4(CDYL):c.1577C>T (p.Ser526Leu)	CDYL (S394L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290976	NM_004824.4(CDYL):c.1584G>C (p.Gln528His)	CDYL (Q528H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141774	NM_004824.4(CDYL):c.1595C>T (p.Ser532Phe)	CDYL (S400F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345870	NM_004824.4(CDYL):c.1624G>A (p.Asp542Asn)	CDYL (D410N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32