"CHL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 718047	NM_006614.4(CHL1):c.28C>G (p.Leu10Val)	CHL1 (L10V)	Single nucleotide variant (missense variant)	CHL1-related disorder +1 more	GLikely benign
Select item 3058988	NM_006614.4(CHL1):c.49C>T (p.Leu17Phe)	CHL1 (L17F)	Single nucleotide variant (missense variant)	CHL1-related disorder	GBenign
Select item 773668	NM_006614.4(CHL1):c.92-3T>A	CHL1	Single nucleotide variant (intron variant)	CHL1-related disorder +1 more	GBenign
Select item 3034045	NM_006614.4(CHL1):c.155A>G (p.Tyr52Cys)	CHL1 (Y52C)	Single nucleotide variant (missense variant)	CHL1-related disorder	GLikely benign
Select item 1676925	NM_006614.4(CHL1):c.197+10G>C	CHL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 708287	NM_006614.4(CHL1):c.385+9T>G	CHL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 739136	NM_006614.4(CHL1):c.570C>T (p.Phe190=)	CHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3058743	NM_006614.4(CHL1):c.679+7C>T	CHL1	Single nucleotide variant (intron variant)	CHL1-related disorder	GLikely benign
Select item 787251	NM_006614.4(CHL1):c.704C>T (p.Ser235Leu)	CHL1 (S235L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2631603	NM_006614.4(CHL1):c.758T>A (p.Leu253Gln)	CHL1 (L237Q +1 more)	Single nucleotide variant (missense variant)	CHL1-related disorder	GUncertain significance
Select item 708386	NM_006614.4(CHL1):c.946G>A (p.Val316Ile)	CHL1 (V316I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 763543	NM_006614.4(CHL1):c.1034-4C>T	CHL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 379251	NM_006614.4(CHL1):c.1241T>C (p.Val414Ala)	CHL1 (V414A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 750399	NM_006614.4(CHL1):c.1306+10C>A	CHL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 731515	NM_006614.4(CHL1):c.1350T>C (p.Ala450=)	CHL1	Single nucleotide variant (synonymous variant)	CHL1-related disorder +1 more	GLikely benign
Select item 789576	NM_006614.4(CHL1):c.1501A>G (p.Thr501Ala)	CHL1 (T501A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 +1 more	GLikely benign
Select item 710904	NM_006614.4(CHL1):c.1797A>T (p.Leu599Phe)	CHL1, CHL1-AS1 (L599F +1 more)	Single nucleotide variant (missense variant)	CHL1-related disorder +1 more	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)	CHL1-related disorder +1 more	GBenign/Likely benign
Select item 3057254	NM_006614.4(CHL1):c.2172A>G (p.Pro724=)	CHL1, CHL1-AS1	Single nucleotide variant (synonymous variant +1 more)	CHL1-related disorder	GLikely benign
Select item 788967	NM_006614.4(CHL1):c.2278G>C (p.Gly760Arg)	CHL1 (G744R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3058068	NM_006614.4(CHL1):c.2655A>G (p.Arg885=)	CHL1	Single nucleotide variant (synonymous variant)	CHL1-related disorder	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 disorder	GLikely benign
Select item 2063892	NM_006614.4(CHL1):c.3153G>C (p.Glu1051Asp)	CHL1 (E1051D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3047973	NM_006614.4(CHL1):c.3564T>C (p.His1188=)	CHL1	Single nucleotide variant (synonymous variant)	CHL1-related disorder	GLikely benign

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Items: 25