C0265354[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363419	NM_017780.4(CHD7):c.-490GGC[9]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 363418	NM_017780.4(CHD7):c.-490GGC[10]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 363422	NM_017780.4(CHD7):c.-466_-461del	CHD7	Deletion (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 363424	NM_017780.4(CHD7):c.-467_-466insGGCAGC	CHD7	Insertion (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363432	NM_017780.4(CHD7):c.-465GCG[8]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 363431	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363430	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 363429	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 363428	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363427	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363426	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363425	NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG	CHD7	Indel (5 prime UTR variant)	CHARGE association +1 more	GUncertain significance
Select item 588812	NM_017780.4(CHD7):c.127A>G (p.Ile43Val)	CHD7 (I43V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 363440	NM_017780.4(CHD7):c.202C>T (p.His68Tyr)	CHD7 (H68Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 910433	NM_017780.4(CHD7):c.208G>C (p.Asp70His)	CHD7 (D70H)	Single nucleotide variant (missense variant)	CHARGE association +1 more	GLikely benign
Select item 95778	NM_017780.4(CHD7):c.216T>C (p.Tyr72=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +4 more	GBenign
Select item 95782	NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)	CHD7 (S103T)	Single nucleotide variant (missense variant)	CHARGE association +4 more	GBenign/Likely benign
Select item 363441	NM_017780.4(CHD7):c.444G>A (p.Arg148=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 618017	NM_017780.4(CHD7):c.538C>T (p.Gln180Ter)	CHD7 (Q180*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 95805	NM_017780.4(CHD7):c.657C>T (p.Gly219=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +4 more	GBenign/Likely benign
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 363443	NM_017780.4(CHD7):c.755C>T (p.Ser252Leu)	CHD7 (S252L)	Single nucleotide variant (missense variant)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 158328	NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)	CHD7 (R286G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 363444	NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)	CHD7 (T298A)	Single nucleotide variant (missense variant)	CHARGE association +2 more	GUncertain significance
Select item 908709	NM_017780.4(CHD7):c.947G>T (p.Ser316Ile)	CHD7 (S316I)	Single nucleotide variant (missense variant)	CHARGE association +1 more	GUncertain significance
Select item 95773	NM_017780.4(CHD7):c.1018A>G (p.Met340Val)	CHD7 (M340V)	Single nucleotide variant (missense variant)	CHARGE association +4 more	GBenign/Likely benign
Select item 529153	NM_017780.4(CHD7):c.1029C>T (p.Ser343=)	CHD7	Single nucleotide variant (synonymous variant)	CHD7-related condition +4 more	GBenign/Likely benign
Select item 363445	NM_017780.4(CHD7):c.1030G>A (p.Val344Ile)	CHD7 (V344I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 195325	NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)	CHD7 (N349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 290788	NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)	CHD7 (M396I)	Single nucleotide variant (missense variant)	CHARGE association +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 459541	NM_017780.4(CHD7):c.1281T>C (p.Tyr427=)	CHD7	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 260891	NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)	CHD7 (S466L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 700905	NM_017780.4(CHD7):c.1410A>G (p.Glu470=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 363446	NM_017780.4(CHD7):c.1423A>T (p.Met475Leu)	CHD7 (M475L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 241189	NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)	CHD7 (G522V)	Single nucleotide variant (missense variant)	CHARGE association +5 more	GBenign/Likely benign
Select item 363447	NM_017780.4(CHD7):c.1566C>T (p.Gly522=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 909565	NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)	CHD7 (P548L)	Single nucleotide variant (missense variant)	CHARGE association +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 529146	NM_017780.4(CHD7):c.1737G>A (p.Gln579=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 588923	NM_017780.4(CHD7):c.1959G>A (p.Pro653=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 363448	NM_017780.4(CHD7):c.1977C>T (p.Pro659=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 363449	NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu)	CHD7, LOC126860403 (P671L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	LOC126860403, CHD7	Duplication	Hypogonadism with anosmia +4 more	GBenign/Likely benign
Select item 363450	NM_017780.4(CHD7):c.2066C>T (p.Thr689Met)	CHD7, LOC126860403 (T689M)	Single nucleotide variant (missense variant +1 more)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 196478	NM_017780.4(CHD7):c.2067G>A (p.Thr689=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +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)	CHARGE association +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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 363451	NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile)	CHD7 (T730I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 363452	NM_017780.4(CHD7):c.2238+12A>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 643867	NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)	CHD7 (Q792R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 198223	NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)	CHD7 (K812N)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +5 more	GConflicting classifications of pathogenicity
Select item 363453	NM_017780.4(CHD7):c.2498+12G>T	CHD7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 363454	NM_017780.4(CHD7):c.2613+4C>T	CHD7	Single nucleotide variant (intron variant)	not provided +3 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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 363455	NM_017780.4(CHD7):c.2787C>T (p.Ile929=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GLikely benign
Select item 363456	NM_017780.4(CHD7):c.2820G>A (p.Pro940=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 363457	NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala)	CHD7 (T942A)	Single nucleotide variant (missense variant +1 more)	CHD7-related condition +3 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)	CHARGE association +5 more	GBenign/Likely benign
Select item 210717	NM_017780.4(CHD7):c.2835+8T>C	CHD7	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 95784	NM_017780.4(CHD7):c.3202-5T>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 363458	NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +3 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)	Hypogonadotropic hypogonadism 5 with or without anosmia +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)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 158292	NM_017780.4(CHD7):c.3522+13T>A	CHD7	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 191225	NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)	CHD7 (I1205V)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +5 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)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 3062037	NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly)	CHD7 (E1334G)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 507779	NM_017780.4(CHD7):c.4008C>T (p.Ile1336=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 804693	NM_017780.4(CHD7):c.4275C>T (p.Phe1425=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95790	NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +4 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 363461	NM_017780.4(CHD7):c.4645-9T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 363462	NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr)	CHD7 (S1604T)	Single nucleotide variant (missense variant +1 more)	CHARGE association +2 more	GUncertain significance
Select item 363463	NM_017780.4(CHD7):c.4851T>G (p.Gly1617=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GLikely benign
Select item 95791	NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +4 more	GConflicting classifications of pathogenicity
Select item 95792	NM_017780.4(CHD7):c.5051-4C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE association +4 more	GBenign
Select item 287628	NM_017780.4(CHD7):c.5300+8C>T	CHD7	Single nucleotide variant (intron variant)	not provided +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)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign
Select item 363466	NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)	CHD7 (G1797A)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 363467	NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)	CHD7 (A1814T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 588304	NM_017780.4(CHD7):c.5589G>A (p.Pro1863=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 363468	NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly)	CHD7 (D1878G)	Single nucleotide variant (missense variant +1 more)	CHARGE association +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)	Hypogonadotropic hypogonadism 5 with or without anosmia +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)	CHARGE association +4 more	GBenign/Likely benign
Select item 363469	NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys)	CHD7 (Y1920C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 909685	NM_017780.4(CHD7):c.5833C>A (p.Arg1945=)	CHD7	Single nucleotide variant (intron variant +1 more)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 158305	NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 95798	NM_017780.4(CHD7):c.6103+6T>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 95799	NM_017780.4(CHD7):c.6103+8C>T	CHD7	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 95800	NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 363470	NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn)	CHD7 (D2038N)	Single nucleotide variant (intron variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 158306	NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +4 more	GBenign
Select item 95801	NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +5 more	GConflicting classifications of pathogenicity
Select item 287143	NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)	CHD7 (P2083S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 411178	NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe)	CHD7 (L2085F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95802	NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +4 more	GBenign
Select item 95803	NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 363472	NM_017780.4(CHD7):c.6321C>T (p.His2107=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GConflicting classifications of pathogenicity

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