"Ambry Genetics"[submitter] AND "CYLC1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271345	NM_021118.3(CYLC1):c.181C>T (p.His61Tyr)	CYLC1 (H61Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263894	NM_021118.3(CYLC1):c.231A>G (p.Ile77Met)	CYLC1 (I77M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526593	NM_021118.3(CYLC1):c.424C>T (p.Pro142Ser)	CYLC1 (P142S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464773	NM_021118.3(CYLC1):c.443T>C (p.Val148Ala)	CYLC1 (V148A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353494	NM_021118.3(CYLC1):c.463C>G (p.Gln155Glu)	CYLC1 (Q155E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237011	NM_021118.3(CYLC1):c.484C>T (p.Pro162Ser)	CYLC1 (P162S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351746	NM_021118.3(CYLC1):c.581A>G (p.Asn194Ser)	CYLC1 (N194S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293911	NM_021118.3(CYLC1):c.822G>T (p.Lys274Asn)	CYLC1 (K274N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546756	NM_021118.3(CYLC1):c.921G>C (p.Lys307Asn)	CYLC1 (K307N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207847	NM_021118.3(CYLC1):c.925G>C (p.Asp309His)	CYLC1 (D309H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324069	NM_021118.3(CYLC1):c.974A>G (p.Asp325Gly)	CYLC1 (D325G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549446	NM_021118.3(CYLC1):c.1301A>C (p.Lys434Thr)	CYLC1 (K434T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215684	NM_021118.3(CYLC1):c.1305G>T (p.Lys435Asn)	CYLC1 (K435N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314659	NM_021118.3(CYLC1):c.1369G>C (p.Gly457Arg)	CYLC1 (G457R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475892	NM_021118.3(CYLC1):c.1411G>T (p.Asp471Tyr)	CYLC1 (D471Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238544	NM_021118.3(CYLC1):c.1493A>G (p.His498Arg)	CYLC1 (H498R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288411	NM_021118.3(CYLC1):c.1591G>A (p.Gly531Ser)	CYLC1 (G531S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392001	NM_021118.3(CYLC1):c.1626T>A (p.Asp542Glu)	CYLC1 (D542E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610392	NM_021118.3(CYLC1):c.1743G>A (p.Met581Ile)	CYLC1 (M581I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615757	NM_021118.3(CYLC1):c.1832C>A (p.Ala611Asp)	CYLC1 (A611D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318834	NM_021118.3(CYLC1):c.1907C>A (p.Pro636Gln)	CYLC1 (P636Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21