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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2595615	NM_006614.4(CHL1):c.7C>A (p.Pro3Thr)	CHL1 (P3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518831	NM_006614.4(CHL1):c.95A>G (p.Gln32Arg)	CHL1 (Q32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1127931	NM_006614.4(CHL1):c.128T>C (p.Val43Ala)	CHL1 (V43A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2204961	NM_006614.4(CHL1):c.194C>T (p.Pro65Leu)	CHL1 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267036	NM_006614.4(CHL1):c.223C>A (p.Pro75Thr)	CHL1 (P75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144390	NM_006614.4(CHL1):c.278G>A (p.Arg93Lys)	CHL1 (R93K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544533	NM_006614.4(CHL1):c.298A>G (p.Ile100Val)	CHL1 (I100V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2548318	NM_006614.4(CHL1):c.424G>A (p.Glu142Lys)	CHL1 (E142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144402	NM_006614.4(CHL1):c.440A>G (p.Asp147Gly)	CHL1 (D147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267045	NM_006614.4(CHL1):c.535A>G (p.Arg179Gly)	CHL1 (R179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391647	NM_006614.4(CHL1):c.595C>T (p.Arg199Cys)	CHL1 (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144403	NM_006614.4(CHL1):c.596G>A (p.Arg199His)	CHL1 (R199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539813	NM_006614.4(CHL1):c.648G>C (p.Gln216His)	CHL1 (Q216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302822	NM_006614.4(CHL1):c.658A>G (p.Met220Val)	CHL1 (M220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367814	NM_006614.4(CHL1):c.671T>C (p.Val224Ala)	CHL1 (V224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528591	NM_006614.4(CHL1):c.692A>C (p.Asn231Thr)	CHL1 (N231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144404	NM_006614.4(CHL1):c.696C>G (p.Asp232Glu)	CHL1 (D232E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144405	NM_006614.4(CHL1):c.740A>G (p.Lys247Arg)	CHL1 (K231R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544974	NM_006614.4(CHL1):c.767C>T (p.Pro256Leu)	CHL1 (P256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531689	NM_006614.4(CHL1):c.853A>T (p.Thr285Ser)	CHL1 (T285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144406	NM_006614.4(CHL1):c.854C>T (p.Thr285Ile)	CHL1 (T269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559151	NM_006614.4(CHL1):c.897G>C (p.Lys299Asn)	CHL1 (K299N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144407	NM_006614.4(CHL1):c.938T>C (p.Ile313Thr)	CHL1 (I297T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528592	NM_006614.4(CHL1):c.974G>A (p.Arg325His)	CHL1 (R325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380923	NM_006614.4(CHL1):c.998G>C (p.Gly333Ala)	CHL1 (G317A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144377	NM_006614.4(CHL1):c.1006A>C (p.Thr336Pro)	CHL1 (T320P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144378	NM_006614.4(CHL1):c.1007C>T (p.Thr336Ile)	CHL1 (T320I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267047	NM_006614.4(CHL1):c.1043G>A (p.Arg348His)	CHL1 (R332H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519747	NM_006614.4(CHL1):c.1051A>G (p.Lys351Glu)	CHL1 (K351E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493766	NM_006614.4(CHL1):c.1085G>T (p.Ser362Ile)	CHL1 (S346I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387635	NM_006614.4(CHL1):c.1156C>A (p.Pro386Thr)	CHL1 (P386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300690	NM_006614.4(CHL1):c.1204A>G (p.Ile402Val)	CHL1 (I402V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355237	NM_006614.4(CHL1):c.1217A>G (p.Asn406Ser)	CHL1 (N406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559356	NM_006614.4(CHL1):c.1234A>T (p.Thr412Ser)	CHL1 (T412S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267050	NM_006614.4(CHL1):c.1283C>T (p.Ala428Val)	CHL1 (A412V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294998	NM_006614.4(CHL1):c.1301T>C (p.Val434Ala)	CHL1 (V434A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532045	NM_006614.4(CHL1):c.1315C>G (p.Pro439Ala)	CHL1 (P439A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144379	NM_006614.4(CHL1):c.1320G>T (p.Leu440Phe)	CHL1 (L424F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594210	NM_006614.4(CHL1):c.1351A>G (p.Thr451Ala)	CHL1 (T451A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485217	NM_006614.4(CHL1):c.1357G>C (p.Val453Leu)	CHL1 (V437L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144380	NM_006614.4(CHL1):c.1425G>T (p.Lys475Asn)	CHL1 (K475N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290701	NM_006614.4(CHL1):c.1450G>A (p.Gly484Ser)	CHL1 (G468S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267039	NM_006614.4(CHL1):c.1456C>T (p.Arg486Trp)	CHL1 (R470W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144381	NM_006614.4(CHL1):c.1462C>T (p.His488Tyr)	CHL1 (H472Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267048	NM_006614.4(CHL1):c.1481C>T (p.Thr494Ile)	CHL1 (T494I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302430	NM_006614.4(CHL1):c.1553A>C (p.Lys518Thr)	CHL1 (K502T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282486	NM_006614.4(CHL1):c.1559C>T (p.Ala520Val)	CHL1 (A520V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331116	NM_006614.4(CHL1):c.1573T>G (p.Leu525Val)	CHL1 (L509V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 1115499	NM_006614.4(CHL1):c.2297C>A (p.Thr766Asn)	CHL1 (T750N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2396252	NM_006614.4(CHL1):c.2387C>G (p.Pro796Arg)	CHL1 (P796R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560987	NM_006614.4(CHL1):c.2404C>A (p.Gln802Lys)	CHL1 (Q786K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484817	NM_006614.4(CHL1):c.2414A>G (p.Asn805Ser)	CHL1 (N789S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318046	NM_006614.4(CHL1):c.2524G>C (p.Val842Leu)	CHL1 (V826L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393866	NM_006614.4(CHL1):c.2569C>T (p.Arg857Cys)	CHL1 (R841C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144389	NM_006614.4(CHL1):c.2631T>G (p.His877Gln)	CHL1 (H877Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1134393	NM_006614.4(CHL1):c.2647A>G (p.Ile883Val)	CHL1 (I867V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2460636	NM_006614.4(CHL1):c.2666A>G (p.Gln889Arg)	CHL1 (Q889R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600578	NM_006614.4(CHL1):c.2686C>T (p.Pro896Ser)	CHL1 (P880S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396253	NM_006614.4(CHL1):c.2690C>T (p.Ser897Phe)	CHL1 (S897F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538600	NM_006614.4(CHL1):c.2779A>G (p.Thr927Ala)	CHL1 (T911A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144391	NM_006614.4(CHL1):c.2800C>G (p.Gln934Glu)	CHL1 (Q934E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203921	NM_006614.4(CHL1):c.2824A>G (p.Lys942Glu)	CHL1 (K942E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260520	NM_006614.4(CHL1):c.2825A>C (p.Lys942Thr)	CHL1 (K926T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144392	NM_006614.4(CHL1):c.2831A>G (p.Asp944Gly)	CHL1 (D928G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144393	NM_006614.4(CHL1):c.2839A>G (p.Thr947Ala)	CHL1 (T947A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378259	NM_006614.4(CHL1):c.2858G>A (p.Gly953Glu)	CHL1 (G937E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528574	NM_006614.4(CHL1):c.2965C>G (p.Pro989Ala)	CHL1 (P989A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302124	NM_006614.4(CHL1):c.2982G>C (p.Trp994Cys)	CHL1 (W994C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144394	NM_006614.4(CHL1):c.3079A>G (p.Thr1027Ala)	CHL1 (T1027A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144396	NM_006614.4(CHL1):c.3106G>A (p.Gly1036Arg)	CHL1 (G1036R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525363	NM_006614.4(CHL1):c.3131C>T (p.Thr1044Ile)	CHL1 (T1028I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267035	NM_006614.4(CHL1):c.3185G>T (p.Arg1062Leu)	CHL1 (R1046L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618506	NM_006614.4(CHL1):c.3259G>T (p.Ala1087Ser)	CHL1 (A1034S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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