"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CHD7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1431054	NM_017780.4(CHD7):c.109A>G (p.Met37Val)	CHD7 (M37V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1476353	NM_017780.4(CHD7):c.278C>T (p.Thr93Ile)	CHD7 (T93I)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 589406	NM_017780.4(CHD7):c.288C>T (p.Asn96=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +3 more	GLikely benign
Select item 267413	NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)	CHD7 (A99P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 698799	NM_017780.4(CHD7):c.303G>A (p.Pro101=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +3 more	GLikely benign
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)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 852318	NM_017780.4(CHD7):c.355G>T (p.Gly119Cys)	CHD7 (G119C)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1189838	NM_017780.4(CHD7):c.381T>C (p.Pro127=)	CHD7	Single nucleotide variant (synonymous variant)	CHD7-related disorder +3 more	GLikely benign
Select item 698739	NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)	CHD7 (S137A)	Single nucleotide variant (missense variant)	CHARGE syndrome +5 more	GBenign/Likely benign
Select item 1536054	NM_017780.4(CHD7):c.486G>A (p.Gln162=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 704668	NM_017780.4(CHD7):c.510G>A (p.Pro170=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1054247	NM_017780.4(CHD7):c.512A>G (p.Gln171Arg)	CHD7 (Q171R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1501998	NM_017780.4(CHD7):c.548C>T (p.Pro183Leu)	CHD7 (P183L)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 566957	NM_017780.4(CHD7):c.608A>G (p.His203Arg)	CHD7 (H203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1494697	NM_017780.4(CHD7):c.671A>G (p.Asn224Ser)	CHD7 (N224S)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 529120	NM_017780.4(CHD7):c.676T>C (p.Phe226Leu)	CHD7 (F226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 210725	NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)	CHD7 (P232T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 700374	NM_017780.4(CHD7):c.729C>T (p.Pro243=)	CHD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1404483	NM_017780.4(CHD7):c.736G>C (p.Ala246Pro)	CHD7 (A246P)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 969106	NM_017780.4(CHD7):c.748C>T (p.Arg250Cys)	CHD7 (R250C)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1209289	NM_017780.4(CHD7):c.831G>C (p.Pro277=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 699429	NM_017780.4(CHD7):c.861G>A (p.Pro287=)	CHD7	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1403579	NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys)	CHD7 (Y313C)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 908709	NM_017780.4(CHD7):c.947G>T (p.Ser316Ile)	CHD7 (S316I)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1390205	NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr)	CHD7 (P348T)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 284635	NM_017780.4(CHD7):c.1104C>T (p.His368=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 695638	NM_017780.4(CHD7):c.1116A>C (p.Ser372=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1308473	NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu)	CHD7 (G388E)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 260890	NM_017780.4(CHD7):c.1179A>G (p.Pro393=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +4 more	GBenign/Likely benign
Select item 290788	NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)	CHD7 (M396I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 696208	NM_017780.4(CHD7):c.1203A>G (p.Ala401=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1524512	NM_017780.4(CHD7):c.1238T>G (p.Val413Gly)	CHD7 (V413G)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 842526	NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu)	CHD7 (P415L)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 588173	NM_017780.4(CHD7):c.1245G>A (p.Pro415=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +3 more	GLikely benign
Select item 944579	NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)	CHD7 (P439A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 1313508	NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser)	CHD7 (N449S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95774	NM_017780.4(CHD7):c.1419G>C (p.Gly473=)	CHD7	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 1311987	NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala)	CHD7 (G482A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1306110	NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp)	CHD7 (G498D)	Single nucleotide variant (missense variant)	not provided +2 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 1093331	NM_017780.4(CHD7):c.1626A>G (p.Pro542=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 909565	NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)	CHD7 (P548L)	Single nucleotide variant (missense variant)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 910491	NM_017780.4(CHD7):c.1666-15A>G	CHD7, LOC126860403	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1009458	NM_017780.4(CHD7):c.1677G>A (p.Ser559=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1684268	NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)	CHD7, LOC126860403 (P561T)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1110998	NM_017780.4(CHD7):c.1704G>A (p.Pro568=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1310774	NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)	CHD7, LOC126860403 (D569E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 529139	NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)	CHD7, LOC126860403 (P576L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 570279	NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)	CHD7, LOC126860403 (I590V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 591994	NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)	CHD7, LOC126860403	Microsatellite (inframe_insertion +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1337650	NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)	CHD7, LOC126860403 (P656L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1434199	NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)	CHD7, LOC126860403 (K666R)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1502248	NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)	CHD7, LOC126860403 (K691E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 1402962	NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)	CHD7, LOC126860403 (K691Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1637597	NM_017780.4(CHD7):c.2097-9G>C	CHD7	Single nucleotide variant (intron variant)	CHD7-related disorder +2 more	GLikely benign
Select item 1359827	NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp)	CHD7 (N700D)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 701724	NM_017780.4(CHD7):c.2109T>G (p.Pro703=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 95777	NM_017780.4(CHD7):c.2124T>C (p.Ser708=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 588393	NM_017780.4(CHD7):c.2182G>C (p.Asp728His)	CHD7 (D728H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1557104	NM_017780.4(CHD7):c.2377-17C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 2035	NM_017780.4(CHD7):c.2613+5G>A	CHD7	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1136039	NM_017780.4(CHD7):c.2643T>C (p.Tyr881=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1183087	NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp)	CHD7 (R886W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1301242	NM_017780.4(CHD7):c.2675G>A (p.Arg892His)	CHD7 (R892H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 948252	NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp)	CHD7 (R897W)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 946087	NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg)	CHD7 (P900R)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1045998	NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln)	CHD7 (R920Q)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GUncertain significance
Select item 363455	NM_017780.4(CHD7):c.2787C>T (p.Ile929=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +2 more	GLikely benign
Select item 848407	NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys)	CHD7 (S937C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 496443	NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys)	CHD7 (R944C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1576844	NM_017780.4(CHD7):c.2835+18G>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 1436190	NM_017780.4(CHD7):c.2836-5A>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
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 529140	NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln)	CHD7 (R947Q)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
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 666808	NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys)	CHD7 (Y1008C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1315548	NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val)	CHD7 (I1015V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance
Select item 654752	NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)	CHD7 (H1016R)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 459545	NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val)	CHD7 (I1022V)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 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)	CHARGE syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1496560	NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)	CHD7 (R1054Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95784	NM_017780.4(CHD7):c.3202-5T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +4 more	GBenign/Likely benign
Select item 1022057	NM_017780.4(CHD7):c.3202-3T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 267423	NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)	CHD7 (R1069*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 963928	NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys)	CHD7 (Y1075C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1216189	NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val)	CHD7 (I1080V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 363459	NM_017780.4(CHD7):c.3299G>A (p.Arg1100His)	CHD7 (R1100H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 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)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1649481	NM_017780.4(CHD7):c.3378+18T>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 418124	NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)	CHD7 (T1133M)	Single nucleotide variant (missense variant +1 more)	not provided +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)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 849861	NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)	CHD7 (R1155H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 695641	NM_017780.4(CHD7):c.3483A>G (p.Thr1161=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GLikely benign
Select item 158292	NM_017780.4(CHD7):c.3522+13T>A	CHD7	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1617238	NM_017780.4(CHD7):c.3522+20T>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1212751	NM_017780.4(CHD7):c.3523-12G>A	CHD7	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1492570	NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr)	CHD7 (A1236T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 507258	NM_017780.4(CHD7):c.3765G>A (p.Pro1255=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +3 more	GLikely benign

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