CHD7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 146238	GRCh38/hg38 8q12.1-12.2(chr8:60519197-60692992)x1	CHD7, LOC130000460 +5 more	Copy number loss	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 363419	NM_017780.4(CHD7):c.-490GGC[9]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 363418	NM_017780.4(CHD7):c.-490GGC[10]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 363420	NM_017780.4(CHD7):c.-481G>A	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 363421	NM_017780.4(CHD7):c.-472G>A	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 363422	NM_017780.4(CHD7):c.-466_-461del	CHD7	Deletion (5 prime UTR variant)	Hypogonadism with anosmia +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 363423	NM_017780.4(CHD7):c.-469G>A	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 363433	NM_017780.4(CHD7):c.-466A>G	CHD7	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 363432	NM_017780.4(CHD7):c.-465GCG[8]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363431	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363430	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363429	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +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)	CHARGE syndrome +1 more	GUncertain significance
Select item 363425	NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363434	NM_017780.4(CHD7):c.-380C>T	CHD7	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 363435	NM_017780.4(CHD7):c.-327C>G	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 363436	NM_017780.4(CHD7):c.-298C>A	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 363437	NM_017780.4(CHD7):c.-249C>G	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 363438	NM_017780.4(CHD7):c.-230G>C	CHD7	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909498	NM_017780.4(CHD7):c.-181C>G	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 2572361	NM_017780.4(CHD7):c.-175G>A	CHD7	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1179969	NM_017780.4(CHD7):c.-174-308G>A	CHD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180381	NM_017780.4(CHD7):c.-174-222T>C	CHD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281050	NM_017780.4(CHD7):c.-174-212C>A	CHD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2442454	NM_017780.4(CHD7):c.-174-1G>A	CHD7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 909499	NM_017780.4(CHD7):c.-102G>T	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 910430	NM_017780.4(CHD7):c.-70A>G	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 910431	NM_017780.4(CHD7):c.-25T>A	CHD7	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 529154	NC_000008.11:g.(?_60741413)_(60865953_?)del	CHD7, LOC126860403 +3 more	Deletion	CHARGE syndrome	GPathogenic
Select item 3254732	NM_017780.4(CHD7):c.-15G>A	CHD7	Single nucleotide variant (5 prime UTR variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1750984	NM_017780.4(CHD7):c.5C>G (p.Ala2Gly)	CHD7 (A2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028059	NM_017780.4(CHD7):c.5C>A (p.Ala2Glu)	CHD7 (A2E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GLikely pathogenic
Select item 1561522	NM_017780.4(CHD7):c.6A>G (p.Ala2=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 363439	NM_017780.4(CHD7):c.13G>C (p.Gly5Arg)	CHD7 (G5R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 2893674	NM_017780.4(CHD7):c.18G>T (p.Met6Ile)	CHD7 (M6I)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 1809956	NM_017780.4(CHD7):c.22A>T (p.Ser8Cys)	CHD7 (S8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 644954	NM_017780.4(CHD7):c.29_30del (p.Phe10fs)	CHD7 (F10fs)	Deletion (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 2973246	NM_017780.4(CHD7):c.27T>G (p.Leu9=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 941605	NM_017780.4(CHD7):c.33C>T (p.Gly11=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3022075	NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)	CHD7 (E12K)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 2973247	NM_017780.4(CHD7):c.36G>A (p.Glu12=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1597443	NM_017780.4(CHD7):c.42G>A (p.Gly14=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 959848	NM_017780.4(CHD7):c.53G>A (p.Ser18Asn)	CHD7 (S18N)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1635572	NM_017780.4(CHD7):c.54T>C (p.Ser18=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 834219	NM_017780.4(CHD7):c.57A>C (p.Glu19Asp)	CHD7 (E19D)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1810472	NM_017780.4(CHD7):c.61_62delinsTC (p.Leu21Ser)	CHD7 (L21S)	Indel (missense variant)	not provided	GUncertain significance
Select item 854993	NM_017780.4(CHD7):c.67G>A (p.Gly23Ser)	CHD7 (G23S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 1896433	NM_017780.4(CHD7):c.70C>T (p.Leu24Phe)	CHD7 (L24F)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1634190	NM_017780.4(CHD7):c.72C>G (p.Leu24=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 77374	NM_017780.4(CHD7):c.72C>T (p.Leu24=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1214840	NM_017780.4(CHD7):c.73G>A (p.Gly25Arg)	CHD7 (G25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2840638	NM_017780.4(CHD7):c.81T>C (p.Cys27=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 944152	NM_017780.4(CHD7):c.83G>A (p.Gly28Asp)	CHD7 (G28D)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 910432	NM_017780.4(CHD7):c.89C>T (p.Pro30Leu)	CHD7 (P30L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2058464	NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)	CHD7 (E31*)	Single nucleotide variant (nonsense)	CHARGE syndrome	GPathogenic
Select item 516331	NM_017780.4(CHD7):c.98C>G (p.Pro33Arg)	CHD7 (P33R)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 1121644	NM_017780.4(CHD7):c.102A>G (p.Val34=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1990988	NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)	CHD7 (P36S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 1311381	NM_017780.4(CHD7):c.107C>G (p.Pro36Arg)	CHD7 (P36R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431054	NM_017780.4(CHD7):c.109A>G (p.Met37Val)	CHD7 (M37V)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2658612	NM_017780.4(CHD7):c.110T>C (p.Met37Thr)	CHD7 (M37T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2499990	NM_017780.4(CHD7):c.122T>C (p.Met41Thr)	CHD7 (M41T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 843063	NM_017780.4(CHD7):c.124C>T (p.Pro42Ser)	CHD7 (P42S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
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 +3 more	GConflicting classifications of pathogenicity
Select item 3337909	NM_017780.4(CHD7):c.134A>G (p.Gln45Arg)	CHD7 (Q45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383117	NM_017780.4(CHD7):c.139T>G (p.Phe47Val)	CHD7 (F47V)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 1624870	NM_017780.4(CHD7):c.141T>C (p.Phe47=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 265398	NM_017780.4(CHD7):c.151C>T (p.Gln51Ter)	CHD7 (Q51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 954173	NM_017780.4(CHD7):c.152A>G (p.Gln51Arg)	CHD7 (Q51R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2903879	NM_017780.4(CHD7):c.155C>G (p.Pro52Arg)	CHD7 (P52R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
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 2121370	NM_017780.4(CHD7):c.160C>G (p.Leu54Val)	CHD7 (L54V)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2036	NM_017780.4(CHD7):c.164A>G (p.His55Arg)	CHD7 (H55R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
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 1148467	NM_017780.4(CHD7):c.168T>C (p.His56=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1956129	NM_017780.4(CHD7):c.171T>C (p.Pro57=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 666671	NM_017780.4(CHD7):c.176C>G (p.Thr59Ser)	CHD7 (T59S)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 158281	NM_017780.4(CHD7):c.191_194del (p.Thr64fs)	CHD7 (T64fs)	Microsatellite (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 2020397	NM_017780.4(CHD7):c.201A>C (p.Thr67=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
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 419492	NM_017780.4(CHD7):c.207del (p.Phe69fs)	CHD7 (F69fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 957249	NM_017780.4(CHD7):c.207T>G (p.Phe69Leu)	CHD7 (F69L)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance

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