Related gene-specific medical variations for Gene (Select 10752) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3057254	NM_006614.4(CHL1):c.2172A>G (p.Pro724=)	CHL1, CHL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	CHL1-related disorder	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 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 2653436	NM_006614.4(CHL1):c.1978+4G>A	CHL1, CHL1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 1526974	GRCh37/hg19 3p26.3(chr3:379470-1053840)	CHL1	Copy number loss	not specified	GUncertain significance
Select item 1526972	GRCh37/hg19 3p26.3(chr3:285805-318812)	CHL1	Copy number loss	not specified	GUncertain significance
Select item 1341225	GRCh37/hg19 3p26.3(chr3:285805-317854)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 1340260	GRCh37/hg19 3p26.3(chr3:61892-353163)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 1340181	GRCh37/hg19 3p26.3(chr3:430682-730529)x3	CHL1	Copy number gain	not provided	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 979435	GRCh37/hg19 3p26.3(chr3:319825-1079859)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 979430	GRCh37/hg19 3p26.3(chr3:61891-285783)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979428	GRCh37/hg19 3p26.3(chr3:317853-979343)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979424	GRCh37/hg19 3p26.3(chr3:115780-298012)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979421	GRCh37/hg19 3p26.3(chr3:234923-473605)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979418	GRCh37/hg19 3p26.3(chr3:353990-730529)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 816605	GRCh37/hg19 3p26.3(chr3:79966-295418)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 816604	GRCh37/hg19 3p26.3(chr3:61891-271907)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 816602	GRCh37/hg19 3p26.3(chr3:295737-354495)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 816595	GRCh37/hg19 3p26.3(chr3:326726-563399)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 816594	GRCh37/hg19 3p26.3(chr3:282750-354495)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 814395	GRCh37/hg19 3p26.3(chr3:429176-730529)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 799385	NM_006614.4(CHL1):c.2118C>T (p.Asn706=)	CHL1, CHL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 743671	NM_006614.4(CHL1):c.1986T>C (p.Ile662=)	CHL1, CHL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740758	NM_006614.4(CHL1):c.1706G>A (p.Ser569Asn)	CHL1, CHL1-AS1 (S569N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729796	NM_006614.4(CHL1):c.2100C>T (p.Phe700=)	CHL1, CHL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 710904	NM_006614.4(CHL1):c.1797A>T (p.Leu599Phe)	CHL1, CHL1-AS1 (L599F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689289	GRCh37/hg19 3p26.3(chr3:232625-1090551)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 688157	GRCh37/hg19 3p26.3(chr3:285805-318812)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 686585	GRCh37/hg19 3p26.3(chr3:198463-248206)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 686379	GRCh37/hg19 3p26.3(chr3:232786-1083386)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 686214	GRCh37/hg19 3p26.3(chr3:401718-489528)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 685983	GRCh37/hg19 3p26.3(chr3:285805-318812)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 685543	GRCh37/hg19 3p26.3(chr3:419092-547428)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 685105	GRCh37/hg19 3p26.3(chr3:61891-1035503)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562705	GRCh37/hg19 3p26.3(chr3:419092-552189)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562704	GRCh37/hg19 3p26.3(chr3:400612-556260)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562703	GRCh37/hg19 3p26.3(chr3:300896-763586)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562702	GRCh37/hg19 3p26.3(chr3:291529-768230)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562701	GRCh37/hg19 3p26.3(chr3:285805-318812)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 562700	GRCh37/hg19 3p26.3(chr3:242240-556260)x1	CHL1	Copy number loss	not provided	GLikely pathogenic
Select item 562699	GRCh37/hg19 3p26.3(chr3:205861-1067569)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562698	GRCh37/hg19 3p26.3(chr3:115780-320034)x1	CHL1	Copy number loss	not provided	GLikely pathogenic
Select item 562697	GRCh37/hg19 3p26.3(chr3:95356-1127033)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 562696	GRCh37/hg19 3p26.3(chr3:87137-374869)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562695	GRCh37/hg19 3p26.3(chr3:86203-433578)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562694	GRCh37/hg19 3p26.3(chr3:79966-431824)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562693	GRCh37/hg19 3p26.3(chr3:77040-431326)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562692	GRCh37/hg19 3p26.3(chr3:71403-399110)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562682	GRCh37/hg19 3p26.3(chr3:61891-335877)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 393803	GRCh37/hg19 3p26.3(chr3:315102-1125700)x1	CHL1	Copy number loss	See cases	GLikely pathogenic
Select item 253879	GRCh37/hg19 3p26.3(chr3:270649-431897)x1	CHL1	Copy number loss	See cases	GUncertain significance
Select item 154315	GRCh38/hg38 3p26.3(chr3:228966-241369)x3	CHL1	Copy number gain	See cases	GBenign
Select item 150012	GRCh38/hg38 3p26.3(chr3:199392-241339)x1	CHL1	Copy number loss	See cases	GUncertain significance
Select item 146795	GRCh38/hg38 3p26.3(chr3:228954-241339)x1	CHL1	Copy number loss	See cases	Gconflicting data from submitters

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Items: 88