ClinVar for Gene (Select 10752) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062738	GRCh37/hg19 3p26.3(chr3:61892-1584466)x1	CHL1, CNTN6	Copy number loss	not specified	GUncertain significance
Select item 3062715	GRCh37/hg19 3p26.3(chr3:262774-310273)x1	CHL1	Copy number loss	not specified	GUncertain significance
Select item 3062714	GRCh37/hg19 3p26.3(chr3:71403-1079629)x3	CHL1	Copy number gain	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062679	GRCh37/hg19 3p26.3(chr3:224614-1079629)x3	CHL1	Copy number gain	not specified	GUncertain significance
Select item 3062675	GRCh37/hg19 3p26.3(chr3:285805-698064)x1	CHL1	Copy number loss	not specified	GUncertain significance
Select item 3062670	GRCh37/hg19 3p26.3(chr3:247680-300799)x3	CHL1	Copy number gain	not specified	GUncertain significance
Select item 3058988	NM_006614.4(CHL1):c.49C>T (p.Leu17Phe)	CHL1 (L17F)	Single nucleotide variant (missense variant)	CHL1-related condition	GBenign
Select item 3058743	NM_006614.4(CHL1):c.679+7C>T	CHL1	Single nucleotide variant (intron variant)	CHL1-related condition	GLikely benign
Select item 3058396	NM_006614.4(CHL1):c.3104T>C (p.Ile1035Thr)	CHL1 (I1019T +1 more)	Single nucleotide variant (missense variant +1 more)	CHL1-related condition	GLikely benign
Select item 3058068	NM_006614.4(CHL1):c.2655A>G (p.Arg885=)	CHL1	Single nucleotide variant (synonymous variant)	CHL1-related condition	GLikely benign
Select item 3057254	NM_006614.4(CHL1):c.2172A>G (p.Pro724=)	CHL1, CHL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	CHL1-related condition	GLikely benign
Select item 3047973	NM_006614.4(CHL1):c.3564T>C (p.His1188=)	CHL1	Single nucleotide variant (synonymous variant)	CHL1-related condition	GLikely benign
Select item 3034045	NM_006614.4(CHL1):c.155A>G (p.Tyr52Cys)	CHL1 (Y52C)	Single nucleotide variant (missense variant)	CHL1-related condition	GLikely benign
Select item 3025738	NM_006614.4(CHL1):c.1851C>T (p.Ala617=)	CHL1, CHL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024626	GRCh37/hg19 3p26.3-26.2(chr3:299538-2928908)x4	CHL1, CNTN4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2716680	NM_006614.4(CHL1):c.2388T>G (p.Pro796=)	CHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685894	GRCh37/hg19 3p26.3(chr3:285806-1510822)x3	CHL1, CNTN6	Copy number gain	not provided	GUncertain significance
Select item 2685893	GRCh37/hg19 3p26.3(chr3:255826-467157)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 2685892	GRCh37/hg19 3p26.3(chr3:61892-399110)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 2685030	GRCh37/hg19 3p26.3(chr3:319826-979343)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2653437	NM_006614.4(CHL1):c.2281C>T (p.Leu761=)	CHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653436	NM_006614.4(CHL1):c.1978+4G>A	CHL1, CHL1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653435	NM_006614.4(CHL1):c.849-3C>T	CHL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2631603	NM_006614.4(CHL1):c.758T>A (p.Leu253Gln)	CHL1 (L237Q +1 more)	Single nucleotide variant (missense variant)	CHL1-related condition	GUncertain significance
Select item 2627206	NC_000003.11:g.(370038_382476)_(436556_439909)dup	CHL1	Duplication	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)	Inborn genetic diseases	GUncertain significance
Select item 2622582	NM_006614.4(CHL1):c.1963A>G (p.Asn655Asp)	CHL1-AS1, CHL1 (N655D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618506	NM_006614.4(CHL1):c.3259G>T (p.Ala1087Ser)	CHL1 (A1034S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600578	NM_006614.4(CHL1):c.2686C>T (p.Pro896Ser)	CHL1 (P880S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595615	NM_006614.4(CHL1):c.7C>A (p.Pro3Thr)	CHL1 (P3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594210	NM_006614.4(CHL1):c.1351A>G (p.Thr451Ala)	CHL1 (T451A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2560987	NM_006614.4(CHL1):c.2404C>A (p.Gln802Lys)	CHL1 (Q786K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559356	NM_006614.4(CHL1):c.1234A>T (p.Thr412Ser)	CHL1 (T412S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559151	NM_006614.4(CHL1):c.897G>C (p.Lys299Asn)	CHL1 (K299N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2548318	NM_006614.4(CHL1):c.424G>A (p.Glu142Lys)	CHL1 (E142K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544974	NM_006614.4(CHL1):c.767C>T (p.Pro256Leu)	CHL1 (P256L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2544533	NM_006614.4(CHL1):c.298A>G (p.Ile100Val)	CHL1 (I100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2539813	NM_006614.4(CHL1):c.648G>C (p.Gln216His)	CHL1 (Q216H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538600	NM_006614.4(CHL1):c.2779A>G (p.Thr927Ala)	CHL1 (T911A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532045	NM_006614.4(CHL1):c.1315C>G (p.Pro439Ala)	CHL1 (P439A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531689	NM_006614.4(CHL1):c.853A>T (p.Thr285Ser)	CHL1 (T285S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2528592	NM_006614.4(CHL1):c.974G>A (p.Arg325His)	CHL1 (R325H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528591	NM_006614.4(CHL1):c.692A>C (p.Asn231Thr)	CHL1 (N231T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528574	NM_006614.4(CHL1):c.2965C>G (p.Pro989Ala)	CHL1 (P989A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2519747	NM_006614.4(CHL1):c.1051A>G (p.Lys351Glu)	CHL1 (K351E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518831	NM_006614.4(CHL1):c.95A>G (p.Gln32Arg)	CHL1 (Q32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493766	NM_006614.4(CHL1):c.1085G>T (p.Ser362Ile)	CHL1 (S346I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485217	NM_006614.4(CHL1):c.1357G>C (p.Val453Leu)	CHL1 (V437L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484817	NM_006614.4(CHL1):c.2414A>G (p.Asn805Ser)	CHL1 (N789S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463210	NM_006614.4(CHL1):c.3602A>C (p.Tyr1201Ser)	CHL1 (Y1185S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460636	NM_006614.4(CHL1):c.2666A>G (p.Gln889Arg)	CHL1 (Q889R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396253	NM_006614.4(CHL1):c.2690C>T (p.Ser897Phe)	CHL1 (S897F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396252	NM_006614.4(CHL1):c.2387C>G (p.Pro796Arg)	CHL1 (P796R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393866	NM_006614.4(CHL1):c.2569C>T (p.Arg857Cys)	CHL1 (R841C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393865	NM_006614.4(CHL1):c.1808G>C (p.Gly603Ala)	CHL1-AS1, CHL1 (G587A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391647	NM_006614.4(CHL1):c.595C>T (p.Arg199Cys)	CHL1 (R199C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387635	NM_006614.4(CHL1):c.1156C>A (p.Pro386Thr)	CHL1 (P386T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385990	NM_006614.4(CHL1):c.2000G>T (p.Gly667Val)	CHL1-AS1, CHL1 (G651V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380923	NM_006614.4(CHL1):c.998G>C (p.Gly333Ala)	CHL1 (G317A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378259	NM_006614.4(CHL1):c.2858G>A (p.Gly953Glu)	CHL1 (G937E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367814	NM_006614.4(CHL1):c.671T>C (p.Val224Ala)	CHL1 (V224A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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