ClinVar for Gene (Select 3358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107512	NM_000868.4(HTR2C):c.833C>G (p.Ala278Gly)	HTR2C, LOC126863306 (C246W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107511	NM_000868.4(HTR2C):c.430C>A (p.His144Asn)	HTR2C (H144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107510	NM_000868.4(HTR2C):c.1226G>A (p.Arg409Lys)	HTR2C, LOC126863306 (R409K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3061723	NM_000868.4(HTR2C):c.1230G>A (p.Glu410=)	HTR2C, LOC126863306	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3059916	NM_000868.4(HTR2C):c.778A>G (p.Ser260Gly)	HTR2C, LOC126863306 (K228R +1 more)	Single nucleotide variant (missense variant)	HTR2C-related disorder	GLikely benign
Select item 3054410	NM_000868.4(HTR2C):c.84C>T (p.Ser28=)	HTR2C	Single nucleotide variant (synonymous variant)	HTR2C-related disorder	GLikely benign
Select item 3051811	NM_000868.4(HTR2C):c.45A>G (p.Leu15=)	HTR2C	Single nucleotide variant (synonymous variant)	HTR2C-related disorder	GLikely benign
Select item 3048281	NM_000868.4(HTR2C):c.1011T>C (p.Cys337=)	HTR2C, LOC126863306	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3047470	NM_000868.4(HTR2C):c.43C>T (p.Leu15=)	HTR2C	Single nucleotide variant (synonymous variant)	HTR2C-related disorder	GLikely benign
Select item 3044760	NM_000868.4(HTR2C):c.660C>T (p.Phe220=)	HTR2C, LOC126863306 (R189C)	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3044073	NM_000868.4(HTR2C):c.1255A>G (p.Thr419Ala)	HTR2C, LOC126863306 (T419A)	Single nucleotide variant (missense variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3043928	NM_000868.4(HTR2C):c.8A>G (p.Asn3Ser)	HTR2C (N3S)	Single nucleotide variant (missense variant)	HTR2C-related disorder	GUncertain significance
Select item 3043730	NM_000868.4(HTR2C):c.879G>A (p.Glu293=)	HTR2C, LOC126863306	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3039474	NM_000868.4(HTR2C):c.512C>T (p.Ala171Val)	HTR2C (A171V)	Single nucleotide variant (missense variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3038696	NM_000868.4(HTR2C):c.21G>A (p.Ala7=)	HTR2C	Single nucleotide variant (synonymous variant)	HTR2C-related disorder	GLikely benign
Select item 3037881	NM_000868.4(HTR2C):c.564T>C (p.Pro188=)	HTR2C, LOC126863306 (Y157H)	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3036821	NM_000868.4(HTR2C):c.1002T>G (p.Ser334=)	LOC126863306, HTR2C	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GLikely benign
Select item 3036286	NM_000868.4(HTR2C):c.178A>G (p.Ile60Val)	HTR2C (I60V)	Single nucleotide variant (missense variant)	HTR2C-related disorder	GUncertain significance
Select item 3034296	NM_000868.4(HTR2C):c.*2A>G	HTR2C, LOC126863306	Single nucleotide variant (3 prime UTR variant)	HTR2C-related disorder	GLikely benign
Select item 3030979	NM_000868.4(HTR2C):c.-7A>T	HTR2C	Single nucleotide variant (5 prime UTR variant)	HTR2C-related disorder	GLikely benign
Select item 3030736	NM_000868.4(HTR2C):c.366A>G (p.Leu122=)	HTR2C	Single nucleotide variant (synonymous variant)	HTR2C-related disorder	GLikely benign
Select item 3030673	NM_000868.4(HTR2C):c.985A>G (p.Ile329Val)	HTR2C, LOC126863306 (I329V)	Single nucleotide variant (missense variant +1 more)	HTR2C-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2685763	GRCh37/hg19 Xq23(chrX:113577197-113941651)x2	HTR2C	Copy number gain	not provided	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661227	NM_000868.4(HTR2C):c.1251G>A (p.Arg417=)	HTR2C, LOC126863306	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636223	NM_000868.4(HTR2C):c.172C>T (p.Leu58Phe)	HTR2C (L58F)	Single nucleotide variant (missense variant)	HTR2C-related disorder	GUncertain significance
Select item 2634178	NM_000868.4(HTR2C):c.181G>A (p.Val61Ile)	HTR2C (V61I)	Single nucleotide variant (missense variant)	HTR2C-related disorder	GUncertain significance
Select item 2629527	NM_000868.4(HTR2C):c.92C>T (p.Ala31Val)	HTR2C (A31V)	Single nucleotide variant (missense variant)	HTR2C-related disorder	GUncertain significance
Select item 2629365	NM_000868.4(HTR2C):c.24G>A (p.Val8=)	HTR2C	Single nucleotide variant (synonymous variant)	HTR2C-related disorder	GUncertain significance
Select item 2629171	NM_000868.4(HTR2C):c.1272C>T (p.Ile424=)	HTR2C, LOC126863306	Single nucleotide variant (synonymous variant +1 more)	HTR2C-related disorder	GUncertain significance
Select item 2616738	NM_000868.4(HTR2C):c.1312G>C (p.Val438Leu)	HTR2C, LOC126863306 (V438L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607228	NM_000868.4(HTR2C):c.1180C>T (p.Pro394Ser)	HTR2C, LOC126863306 (P394S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536578	NM_000868.4(HTR2C):c.203T>C (p.Ile68Thr)	HTR2C (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509140	NM_000868.4(HTR2C):c.553G>A (p.Val185Ile)	HTR2C, LOC126863306 (C153Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2496259	NM_000868.4(HTR2C):c.929C>T (p.Ser310Leu)	HTR2C, LOC126863306 (S310L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491947	NM_000868.4(HTR2C):c.1250G>A (p.Arg417Gln)	HTR2C, LOC126863306 (R417Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460618	NM_000868.4(HTR2C):c.1120A>C (p.Ile374Leu)	HTR2C, LOC126863306 (I374L)	Single nucleotide variant (missense variant +1 more)	HTR2C-related disorder +1 more	GUncertain significance
Select item 2331461	NM_000868.4(HTR2C):c.892G>A (p.Gly298Ser)	HTR2C, LOC126863306 (G298S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315709	NM_000868.4(HTR2C):c.1191G>C (p.Gln397His)	HTR2C, LOC126863306 (Q397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290723	NM_000868.4(HTR2C):c.1010G>T (p.Cys337Phe)	HTR2C, LOC126863306 (C337F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252830	NM_000868.4(HTR2C):c.1166T>C (p.Val389Ala)	HTR2C, LOC126863306 (V389A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526845	GRCh37/hg19 Xq23(chrX:112444098-113834541)	HTR2C	Copy number loss	not specified	GUncertain significance
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1339863	NM_000868.4(HTR2C):c.1170G>T (p.Glu390Asp)	HTR2C, LOC126863306 (E390D)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 1318441	NC_000023.11:g.114583809G>A	HTR2C	Single nucleotide variant	not provided	GLikely benign
Select item 1228306	NC_000023.11:g.114583649=	HTR2C	Single nucleotide variant	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 986021	NM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs)	HTR2C, LOC126863306 (S407fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 816381	GRCh37/hg19 Xq23(chrX:113628096-113834541)x2	HTR2C	Copy number gain	not provided	GLikely benign
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 784433	NM_000868.4(HTR2C):c.868AAG[2] (p.Lys292del)	HTR2C, LOC126863306 (K292del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 750988	NM_000868.4(HTR2C):c.20C>T (p.Ala7Val)	HTR2C (A7V)	Single nucleotide variant (missense variant)	HTR2C-related disorder +1 more	GLikely benign
Select item 738592	NM_000868.4(HTR2C):c.124G>C (p.Asp42His)	HTR2C (D42H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 676336	NM_000868.4(HTR2C):c.-697=	HTR2C	Variation (no sequence alteration)	not provided	GBenign
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625796	GRCh37/hg19 Xq23(chrX:113097589-114931342)	MIR448, PLS3 +5 more	Copy number loss	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 564886	GRCh37/hg19 Xq23(chrX:113605343-114234819)x2	HTR2C, MIR448	Copy number gain	not provided	GUncertain significance
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545380	Single allele	ALG13, AMMECR1 +54 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443106	GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1	ACSL4, ALG13 +115 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic

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