"Ambry Genetics"[submitter] AND "CHL1-AS1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529184	NM_006614.4(CHL1):c.1600A>G (p.Arg534Gly)	CHL1, CHL1-AS1 (R518G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556926	NM_006614.4(CHL1):c.1606T>G (p.Ser536Ala)	CHL1, CHL1-AS1 (S520A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267044	NM_006614.4(CHL1):c.1631A>G (p.Lys544Arg)	CHL1, CHL1-AS1 (K528R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245606	NM_006614.4(CHL1):c.1647A>C (p.Glu549Asp)	CHL1, CHL1-AS1 (E533D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144382	NM_006614.4(CHL1):c.1738A>G (p.Thr580Ala)	CHL1, CHL1-AS1 (T580A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144383	NM_006614.4(CHL1):c.1743A>T (p.Glu581Asp)	CHL1, CHL1-AS1 (E581D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267038	NM_006614.4(CHL1):c.1750A>T (p.Arg584Trp)	CHL1, CHL1-AS1 (R584W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267042	NM_006614.4(CHL1):c.1786A>G (p.Asn596Asp)	CHL1, CHL1-AS1 (N596D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393865	NM_006614.4(CHL1):c.1808G>C (p.Gly603Ala)	CHL1, CHL1-AS1 (G587A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144384	NM_006614.4(CHL1):c.1829A>C (p.His610Pro)	CHL1, CHL1-AS1 (H594P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334710	NM_006614.4(CHL1):c.1837C>G (p.Leu613Val)	CHL1, CHL1-AS1 (L613V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1078650	NM_006614.4(CHL1):c.1852G>A (p.Asp618Asn)	CHL1, CHL1-AS1 (D602N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3144385	NM_006614.4(CHL1):c.1894G>A (p.Glu632Lys)	CHL1, CHL1-AS1 (E632K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543319	NM_006614.4(CHL1):c.1940C>T (p.Thr647Ile)	CHL1, CHL1-AS1 (T631I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322387	NM_006614.4(CHL1):c.1949C>A (p.Ala650Asp)	CHL1, CHL1-AS1 (A634D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267037	NM_006614.4(CHL1):c.1957G>T (p.Asp653Tyr)	CHL1, CHL1-AS1 (D653Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144386	NM_006614.4(CHL1):c.1960C>T (p.His654Tyr)	CHL1, CHL1-AS1 (H638Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622582	NM_006614.4(CHL1):c.1963A>G (p.Asn655Asp)	CHL1, CHL1-AS1 (N655D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622583	NM_006614.4(CHL1):c.1964A>C (p.Asn655Thr)	CHL1, CHL1-AS1 (N655T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144387	NM_006614.4(CHL1):c.1973T>C (p.Ile658Thr)	CHL1, CHL1-AS1 (I642T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385990	NM_006614.4(CHL1):c.2000G>T (p.Gly667Val)	CHL1, CHL1-AS1 (G651V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267043	NM_006614.4(CHL1):c.2018G>A (p.Gly673Glu)	CHL1, CHL1-AS1 (G673E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311531	NM_006614.4(CHL1):c.2077G>A (p.Ala693Thr)	CHL1, CHL1-AS1 (A693T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2544594	NM_006614.4(CHL1):c.2113G>A (p.Val705Met)	CHL1, CHL1-AS1 (V689M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3267040	NM_006614.4(CHL1):c.2119G>A (p.Glu707Lys)	CHL1, CHL1-AS1 (E691K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3144388	NM_006614.4(CHL1):c.2167C>T (p.Pro723Ser)	CHL1, CHL1-AS1 (P707S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265014	NM_006614.4(CHL1):c.2204G>T (p.Arg735Met)	CHL1, CHL1-AS1 (R719M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27