"Eurofins Ntd Llc (ga)"[submitter] AND "CHD7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195322	NM_017780.4(CHD7):c.90G>A (p.Pro30=)	CHD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 95775	NM_017780.4(CHD7):c.156A>G (p.Pro52=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95778	NM_017780.4(CHD7):c.216T>C (p.Tyr72=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 195323	NM_017780.4(CHD7):c.240G>A (p.Met80Ile)	CHD7 (M80I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195324	NM_017780.4(CHD7):c.272G>A (p.Ser91Asn)	CHD7 (S91N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95780	NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)	CHD7 (T93A)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 95782	NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)	CHD7 (S103T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 95783	NM_017780.4(CHD7):c.309G>A (p.Ser103=)	CHD7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 195333	NM_017780.4(CHD7):c.323C>A (p.Pro108His)	CHD7 (P108H)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95785	NM_017780.4(CHD7):c.331C>T (p.Pro111Ser)	CHD7 (P111S)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 195327	NM_017780.4(CHD7):c.360C>T (p.Gly120=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288585	NM_017780.4(CHD7):c.380del (p.Pro127fs)	CHD7 (P127fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 195321	NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	CHD7 (R157*)	Single nucleotide variant (nonsense)	CHARGE syndrome +3 more	GPathogenic
Select item 594849	NM_017780.4(CHD7):c.499C>A (p.Pro167Thr)	CHD7 (P167T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288587	NM_017780.4(CHD7):c.500C>T (p.Pro167Leu)	CHD7 (P167L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195331	NM_017780.4(CHD7):c.535G>A (p.Ala179Thr)	CHD7 (A179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195332	NM_017780.4(CHD7):c.656G>A (p.Gly219Asp)	CHD7 (G219D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95805	NM_017780.4(CHD7):c.657C>T (p.Gly219=)	CHD7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 195326	NM_017780.4(CHD7):c.712G>A (p.Val238Met)	CHD7 (V238M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 166855	NM_017780.4(CHD7):c.768C>T (p.Phe256=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158328	NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)	CHD7 (R286G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 501221	NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)	CHD7 (I304T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95773	NM_017780.4(CHD7):c.1018A>G (p.Met340Val)	CHD7 (M340V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 195325	NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)	CHD7 (N349S)	Single nucleotide variant (missense variant)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 166857	NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)	CHD7 (Q364*)	Single nucleotide variant (nonsense)	CHARGE syndrome +1 more	GPathogenic
Select item 284635	NM_017780.4(CHD7):c.1104C>T (p.His368=)	CHD7	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 195328	NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260890	NM_017780.4(CHD7):c.1179A>G (p.Pro393=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 290788	NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)	CHD7 (M396I)	Single nucleotide variant (missense variant)	CHARGE syndrome +4 more	GBenign/Likely benign
Select item 195329	NM_017780.4(CHD7):c.1224_1234del (p.Pro409fs)	CHD7 (P409fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 595876	NM_017780.4(CHD7):c.1327A>G (p.Met443Val)	CHD7 (M443V)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 166858	NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter)	CHD7 (Q457*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 260891	NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)	CHD7 (S466L)	Single nucleotide variant (missense variant)	CHARGE syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95774	NM_017780.4(CHD7):c.1419G>C (p.Gly473=)	CHD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 195334	NM_017780.4(CHD7):c.1465C>T (p.Gln489Ter)	CHD7 (Q489*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 502182	NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg)	CHD7 (Q500R)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 597511	NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala)	CHD7 (P512A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195330	NM_017780.4(CHD7):c.1536A>G (p.Pro512=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +4 more	GBenign/Likely benign
Select item 241189	NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)	CHD7 (G522V)	Single nucleotide variant (missense variant)	CHARGE syndrome +5 more	GBenign/Likely benign
Select item 195335	NM_017780.4(CHD7):c.1644G>A (p.Pro548=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166859	NM_017780.4(CHD7):c.1698A>G (p.Pro566=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593135	NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg)	CHD7, LOC126860403 (G623R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	CHD7, LOC126860403	Duplication	not specified +4 more	GBenign/Likely benign
Select item 196478	NM_017780.4(CHD7):c.2067G>A (p.Thr689=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95777	NM_017780.4(CHD7):c.2124T>C (p.Ser708=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 587800	NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)	CHD7 (K729E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95779	NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)	CHD7 (P732A)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 158282	NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)	CHD7 (G744S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 281648	NM_017780.4(CHD7):c.2238+6A>G	CHD7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 166861	NM_017780.4(CHD7):c.2377-3dup	CHD7	Duplication (intron variant)	CHARGE syndrome +3 more	GBenign/Likely benign
Select item 198223	NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)	CHD7 (K812N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 199143	NM_017780.4(CHD7):c.2614-7G>T	CHD7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 199142	NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)	CHD7 (T894A)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GBenign/Likely benign
Select item 193725	NM_017780.4(CHD7):c.2751G>A (p.Thr917=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 210717	NM_017780.4(CHD7):c.2835+8T>C	CHD7	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95781	NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)	CHD7 (R947*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 287868	NM_017780.4(CHD7):c.2848del (p.Ala950fs)	CHD7 (A950fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 166862	NM_017780.4(CHD7):c.2933G>A (p.Trp978Ter)	CHD7 (W978*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 289304	NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser)	CHD7 (N982S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 288483	NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln)	CHD7 (R987Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2022	NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)	CHD7 (I1028V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 95784	NM_017780.4(CHD7):c.3202-5T>C	CHD7	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 282588	NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)	CHD7 (I1081V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 95786	NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)	CHD7 (K1122N)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 194419	NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)	CHD7 (R1155C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290692	NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)	CHD7 (M1163V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 194546	NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)	CHD7 (G1233S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 194547	NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)	CHD7 (V1238I)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 95787	NM_017780.4(CHD7):c.3868G>C (p.Gly1290Arg)	CHD7 (G1290R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 95788	NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)	CHD7 (R1317C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 194665	NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)	CHD7 (Y1325H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 592245	NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	CHD7 (R1339*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome +1 more	GPathogenic
Select item 194771	NM_017780.4(CHD7):c.4137T>C (p.Asp1379=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 95789	NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs)	CHD7 (I1460fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 95790	NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 166866	NM_017780.4(CHD7):c.4534-20C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 158297	NM_017780.4(CHD7):c.4534-13T>G	CHD7	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 593209	NM_017780.4(CHD7):c.4793C>G (p.Ser1598Ter)	CHD7 (S1598*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 95791	NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 282561	NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe)	CHD7 (S1626F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 95792	NM_017780.4(CHD7):c.5051-4C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +4 more	GBenign
Select item 281877	NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn)	CHD7 (S1702N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 195771	NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95793	NM_017780.4(CHD7):c.5181C>G (p.Tyr1727Ter)	CHD7 (Y1727*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 498284	NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)	CHD7 (K1759Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 287628	NM_017780.4(CHD7):c.5300+8C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +3 more	GBenign/Likely benign
Select item 95794	NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 195899	NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 195978	NM_017780.4(CHD7):c.5405-17G>A	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GPathogenic/Likely pathogenic
Select item 95795	NM_017780.4(CHD7):c.5405-7G>A	CHD7	Single nucleotide variant (intron variant)	CHD7-related disorder +4 more	GPathogenic
Select item 166868	NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290368	NM_017780.4(CHD7):c.5496G>A (p.Glu1832=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166869	NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 95796	NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 260910	NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +4 more	GBenign/Likely benign
Select item 529141	NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)	CHD7 (R1942W)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 281606	NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln)	CHD7 (R1943Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 196181	NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)	CHD7 (A1950T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95797	NM_017780.4(CHD7):c.5895-1G>C	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 593811	NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter)	CHD7 (Q1991*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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