"Ambry Genetics"[submitter] AND "CHEK1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1740312	NM_001114122.3(CHEK1):c.43C>T (p.Leu15=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1766856	NM_001114122.3(CHEK1):c.93T>C (p.Thr31=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1779845	NM_001114122.3(CHEK1):c.105C>T (p.Val35=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2514773	NM_001114122.3(CHEK1):c.163G>A (p.Glu55Lys)	CHEK1 (E55K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144286	NM_001114122.3(CHEK1):c.230G>T (p.Gly77Val)	CHEK1 (G77V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1735507	NM_001114122.3(CHEK1):c.384C>T (p.His128=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1738004	NM_001114122.3(CHEK1):c.411G>A (p.Leu137=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3266936	NM_001114122.3(CHEK1):c.415G>T (p.Asp139Tyr)	CHEK1 (D139Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1741747	NM_001114122.3(CHEK1):c.459A>C (p.Thr153=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2597061	NM_001114122.3(CHEK1):c.466C>T (p.Arg156Trp)	CHEK1 (R62W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397567	NM_001114122.3(CHEK1):c.476A>T (p.Asn159Ile)	CHEK1 (N159I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144287	NM_001114122.3(CHEK1):c.499A>T (p.Met167Leu)	CHEK1 (M167L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1746434	NM_001114122.3(CHEK1):c.525T>C (p.Ala175=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3144288	NM_001114122.3(CHEK1):c.580T>C (p.Cys194Arg)	CHEK1 (C93R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1753117	NM_001114122.3(CHEK1):c.636T>C (p.Ser212=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1753653	NM_001114122.3(CHEK1):c.645T>C (p.Cys215=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1756123	NM_001114122.3(CHEK1):c.690T>C (p.Pro230=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1757861	NM_001114122.3(CHEK1):c.723G>A (p.Leu241=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1759896	NM_001114122.3(CHEK1):c.762T>A (p.Ile254=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1760835	NM_001114122.3(CHEK1):c.783A>G (p.Lys261=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2634331	NM_001114122.3(CHEK1):c.830G>A (p.Arg277Gln)	CHEK1 (R176Q +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder +1 more	GUncertain significance
Select item 3144289	NM_001114122.3(CHEK1):c.844G>C (p.Gly282Arg)	CHEK1 (G181R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495165	NM_001114122.3(CHEK1):c.860C>T (p.Pro287Leu)	CHEK1 (P287L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1765460	NM_001114122.3(CHEK1):c.900C>T (p.Phe300=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2618542	NM_001114122.3(CHEK1):c.946A>G (p.Ser316Gly)	CHEK1 (S215G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1767257	NM_001114122.3(CHEK1):c.951T>C (p.Ser317=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2397701	NM_001114122.3(CHEK1):c.965G>A (p.Arg322His)	CHEK1 (R221H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1768483	NM_001114122.3(CHEK1):c.987T>C (p.Asp329=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1772170	NM_001114122.3(CHEK1):c.1002C>T (p.Tyr334=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1747016	NM_001114122.3(CHEK1):c.1017A>G (p.Val339=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3266935	NM_001114122.3(CHEK1):c.1066A>C (p.Asn356His)	CHEK1 (N255H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1796657	NM_001114122.3(CHEK1):c.1117T>C (p.Leu373=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1741042	NM_001114122.3(CHEK1):c.1177C>T (p.Leu393=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3144284	NM_001114122.3(CHEK1):c.1225A>G (p.Met409Val)	CHEK1 (M315V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1763616	NM_001114122.3(CHEK1):c.1263C>T (p.Asn421=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1764343	NM_001114122.3(CHEK1):c.1266T>C (p.Asn422=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3144285	NM_001114122.3(CHEK1):c.1389T>G (p.Ile463Met)	CHEK1 (I429M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1771929	NM_001114122.3(CHEK1):c.1407G>A (p.Gln469=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2493441	NM_001612.6(ACRV1):c.794T>C (p.Ile265Thr)	ACRV1, CHEK1 (I210T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139289	NM_001612.6(ACRV1):c.668T>C (p.Phe223Ser)	ACRV1, CHEK1 (F153S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557071	NM_001612.6(ACRV1):c.611G>A (p.Arg204His)	ACRV1, CHEK1 (R149H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321970	NM_001612.6(ACRV1):c.370C>T (p.Leu124Phe)	ACRV1, CHEK1 (L69F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269339	NM_001612.6(ACRV1):c.229A>C (p.Lys77Gln)	ACRV1, CHEK1 (K77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139278	NM_001612.6(ACRV1):c.176C>G (p.Ser59Cys)	ACRV1, CHEK1 (S59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607272	NM_001612.6(ACRV1):c.76C>A (p.Leu26Ile)	ACRV1, CHEK1 (L26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 45