"CHD7-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - 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)	CHARGE association +3 more	GConflicting classifications of pathogenicity
Select item 516331	NM_017780.4(CHD7):c.98C>G (p.Pro33Arg)	CHD7 (P33R)	Single nucleotide variant (missense variant)	CHARGE association +2 more	GBenign/Likely benign
Select item 588812	NM_017780.4(CHD7):c.127A>G (p.Ile43Val)	CHD7 (I43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 3059414	NM_017780.4(CHD7):c.165T>C (p.His55=)	CHD7	Single nucleotide variant (synonymous variant)	CHD7-related disorder	GLikely benign
Select item 1189838	NM_017780.4(CHD7):c.381T>C (p.Pro127=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +3 more	GLikely benign
Select item 698739	NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)	CHD7 (S137A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 267414	NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)	CHD7 (Q166*)	Single nucleotide variant (nonsense)	CHD7-related disorder +1 more	GPathogenic
Select item 1595334	NM_017780.4(CHD7):c.561G>A (p.Gln187=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +2 more	GLikely benign
Select item 2633673	NM_017780.4(CHD7):c.586G>A (p.Gly196Arg)	CHD7 (G196R)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 459557	NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)	CHD7 (Q202*)	Single nucleotide variant (nonsense)	CHARGE association +1 more	GPathogenic
Select item 210725	NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)	CHD7 (P232T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 3056197	NM_017780.4(CHD7):c.701A>G (p.His234Arg)	CHD7 (H234R)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 1313864	NM_017780.4(CHD7):c.733A>G (p.Met245Val)	CHD7 (M245V)	Single nucleotide variant (missense variant)	CHD7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2633358	NM_017780.4(CHD7):c.748C>A (p.Arg250Ser)	CHD7 (R250S)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 166855	NM_017780.4(CHD7):c.768C>T (p.Phe256=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2417601	NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)	CHD7 (P280S)	Single nucleotide variant (missense variant)	CHARGE association +1 more	GUncertain significance
Select item 3033695	NM_017780.4(CHD7):c.957T>C (p.Asn319=)	CHD7	Single nucleotide variant (synonymous variant)	CHD7-related disorder	GLikely benign
Select item 529153	NM_017780.4(CHD7):c.1029C>T (p.Ser343=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 166857	NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)	CHD7 (Q364*)	Single nucleotide variant (nonsense)	CHARGE association +2 more	GPathogenic
Select item 2171872	NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)	CHD7 (L373F)	Single nucleotide variant (missense variant)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 2632120	NM_017780.4(CHD7):c.1204A>G (p.Met402Val)	CHD7 (M402V)	Single nucleotide variant (missense variant)	CHD7-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2635194	NM_017780.4(CHD7):c.1318C>T (p.Pro440Ser)	CHD7 (P440S)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 496442	NM_017780.4(CHD7):c.1326C>A (p.Ala442=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +4 more	GConflicting classifications of pathogenicity
Select item 3053069	NM_017780.4(CHD7):c.1363A>G (p.Met455Val)	CHD7 (M455V)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 581160	NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)	CHD7 (R459C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 932019	NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)	CHD7 (R469G)	Single nucleotide variant (missense variant)	CHD7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 700905	NM_017780.4(CHD7):c.1410A>G (p.Glu470=)	CHD7	Single nucleotide variant (synonymous variant)	CHD7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1535397	NM_017780.4(CHD7):c.1473C>T (p.Ile491=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +1 more	GBenign/Likely benign
Select item 195330	NM_017780.4(CHD7):c.1536A>G (p.Pro512=)	CHD7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2637181	NM_017780.4(CHD7):c.1598A>G (p.His533Arg)	CHD7 (H533R)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 660109	NM_017780.4(CHD7):c.1622A>G (p.His541Arg)	CHD7 (H541R)	Single nucleotide variant (missense variant)	CHARGE association +2 more	GUncertain significance
Select item 960525	NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)	CHD7, LOC126860403 (P566A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 577967	NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu)	CHD7, LOC126860403 (P568L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2461536	NM_017780.4(CHD7):c.1724G>C (p.Gly575Ala)	CHD7, LOC126860403 (G575A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1069874	NM_017780.4(CHD7):c.1953dup (p.Asp652fs)	CHD7, LOC126860403 (D652fs)	Duplication (frameshift variant +1 more)	CHARGE association +1 more	GPathogenic
Select item 698659	NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu)	CHD7, LOC126860403 (P653L)	Single nucleotide variant (missense variant +1 more)	CHARGE association +2 more	GBenign/Likely benign
Select item 3055937	NM_017780.4(CHD7):c.2053del (p.Ala685fs)	CHD7, LOC126860403 (A685fs)	Deletion (frameshift variant +1 more)	CHD7-related disorder	GPathogenic
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 587800	NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)	CHD7 (K729E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 421199	NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del)	CHD7 (P737del)	Microsatellite (inframe_deletion +1 more)	CHARGE association +3 more	GConflicting classifications of pathogenicity
Select item 431960	NM_017780.4(CHD7):c.2273G>A (p.Arg758His)	CHD7 (R758H)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 198223	NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)	CHD7 (K812N)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1081809	NM_017780.4(CHD7):c.2523A>G (p.Ala841=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GLikely benign
Select item 199143	NM_017780.4(CHD7):c.2614-7G>T	CHD7	Single nucleotide variant (intron variant)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 3050127	NM_017780.4(CHD7):c.2682A>T (p.Thr894=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 363457	NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala)	CHD7 (T942A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 697972	NM_017780.4(CHD7):c.2829G>A (p.Glu943=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 241190	NM_017780.4(CHD7):c.2831G>A (p.Arg944His)	CHD7 (R944H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 3054174	NM_017780.4(CHD7):c.2922G>A (p.Glu974=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 1798121	NM_017780.4(CHD7):c.2958-3A>G	CHD7	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 654752	NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)	CHD7 (H1016R)	Single nucleotide variant (missense variant +1 more)	CHARGE association +3 more	GConflicting classifications of pathogenicity
Select item 697024	NM_017780.4(CHD7):c.3054T>G (p.Pro1018=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +2 more	GBenign/Likely benign
Select item 2633985	NM_017780.4(CHD7):c.3149_3156delinsGTC (p.Gln1050fs)	CHD7 (Q1050fs)	Indel (frameshift variant +1 more)	CHD7-related disorder	GLikely pathogenic
Select item 2631753	NM_017780.4(CHD7):c.3205C>G (p.Arg1069Gly)	CHD7 (R1069G)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder	GUncertain significance
Select item 282588	NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)	CHD7 (I1081V)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3047024	NM_017780.4(CHD7):c.3249A>G (p.Thr1083=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 2630269	NM_017780.4(CHD7):c.3285del (p.Asn1096fs)	CHD7 (N1096fs)	Deletion (frameshift variant +1 more)	CHD7-related disorder	GPathogenic
Select item 1105251	NM_017780.4(CHD7):c.3294A>C (p.Pro1098=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +2 more	GLikely benign
Select item 449371	NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr)	CHD7 (C1101Y)	Single nucleotide variant (missense variant +1 more)	CHARGE association +2 more	GPathogenic/Likely pathogenic
Select item 1065461	NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs)	CHD7 (V1141fs)	Microsatellite (frameshift variant +1 more)	CHARGE association +1 more	GPathogenic
Select item 2630913	NM_017780.4(CHD7):c.3482_3483del (p.Thr1161fs)	CHD7 (T1161fs)	Microsatellite (frameshift variant +1 more)	CHD7-related disorder	GLikely pathogenic
Select item 3029054	NM_017780.4(CHD7):c.3597C>T (p.Ala1199=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 191225	NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)	CHD7 (I1205V)	Single nucleotide variant (missense variant +1 more)	CHARGE association +5 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)	CHARGE association +3 more	GLikely benign
Select item 3031283	NM_017780.4(CHD7):c.3779-10A>T	CHD7	Single nucleotide variant (intron variant)	CHD7-related disorder	GLikely benign
Select item 2637067	NM_017780.4(CHD7):c.3819_3820del (p.His1273fs)	CHD7 (H1273fs)	Microsatellite (frameshift variant +1 more)	CHD7-related disorder	GLikely pathogenic
Select item 194665	NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)	CHD7 (Y1325H)	Single nucleotide variant (missense variant +1 more)	CHARGE association +4 more	GConflicting classifications of pathogenicity
Select item 2629436	NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)	CHD7 (I1327V)	Single nucleotide variant (missense variant +1 more)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 700536	NM_017780.4(CHD7):c.3989+7A>G	CHD7	Single nucleotide variant (intron variant)	CHD7-related disorder +1 more	GLikely benign
Select item 2050922	NM_017780.4(CHD7):c.3990-8T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE association +1 more	GLikely benign
Select item 2637015	NM_017780.4(CHD7):c.3990-2A>C	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	CHD7-related disorder	GLikely pathogenic
Select item 3041909	NM_017780.4(CHD7):c.4213C>T (p.Gln1405Ter)	CHD7 (Q1405*)	Single nucleotide variant (nonsense +1 more)	CHD7-related disorder	GPathogenic
Select item 1187645	NM_017780.4(CHD7):c.4302G>A (p.Leu1434=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +2 more	GLikely benign
Select item 1181720	NM_017780.4(CHD7):c.4377A>G (p.Glu1459=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +2 more	GLikely benign
Select item 267430	NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)	CHD7 (R1465*)	Single nucleotide variant (nonsense +1 more)	CHD7-related disorder +2 more	GPathogenic
Select item 1297711	NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys)	CHD7 (Y1469C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044980	NM_017780.4(CHD7):c.4455A>G (p.Glu1485=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 747063	NM_017780.4(CHD7):c.4692C>G (p.Leu1564=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 95791	NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 1115775	NM_017780.4(CHD7):c.4860G>C (p.Arg1620=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GLikely benign
Select item 966569	NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys)	CHD7 (R1629C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2571787	NM_017780.4(CHD7):c.4889A>G (p.Tyr1630Cys)	CHD7 (Y1630C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1554043	NM_017780.4(CHD7):c.4920A>G (p.Glu1640=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +2 more	GLikely benign
Select item 1201277	NM_017780.4(CHD7):c.5029C>A (p.Arg1677=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +3 more	GLikely benign
Select item 1054135	NM_017780.4(CHD7):c.5049C>T (p.Ser1683=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1263010	NM_017780.4(CHD7):c.5051-25A>G	CHD7	Single nucleotide variant (intron variant)	CHD7-related disorder +1 more	GBenign/Likely benign
Select item 1603703	NM_017780.4(CHD7):c.5051-14G>T	CHD7	Single nucleotide variant (intron variant)	CHARGE association +1 more	GLikely benign
Select item 1669844	NM_017780.4(CHD7):c.5067G>A (p.Val1689=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GLikely benign
Select item 3030790	NM_017780.4(CHD7):c.5076A>G (p.Gly1692=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 2439995	NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)	CHD7 (K1696R)	Single nucleotide variant (missense variant +1 more)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 1112745	NM_017780.4(CHD7):c.5160C>T (p.Ala1720=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +2 more	GLikely benign
Select item 3048098	NM_017780.4(CHD7):c.5190C>T (p.His1730=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 699939	NM_017780.4(CHD7):c.5191C>T (p.Leu1731=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +1 more	GLikely benign
Select item 580007	NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)	CHD7 (A1757V)	Single nucleotide variant (missense variant +1 more)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 1800517	NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)	CHD7 (D1758G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2636675	NM_017780.4(CHD7):c.5287G>A (p.Gly1763Ser)	CHD7 (G1763S)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder	GUncertain significance
Select item 195899	NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +3 more	GConflicting classifications of pathogenicity
Select item 3044848	NM_017780.4(CHD7):c.5313G>A (p.Val1771=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder	GLikely benign
Select item 1107887	NM_017780.4(CHD7):c.5382C>T (p.Leu1794=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHD7-related disorder +1 more	GLikely benign
Select item 1586380	NM_017780.4(CHD7):c.5405-18C>T	CHD7	Single nucleotide variant (intron variant)	CHD7-related disorder +1 more	GLikely benign

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