ClinVar for Gene (Select 3359) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285040	NM_000869.6(HTR3A):c.908C>G (p.Pro303Arg)	HTR3A (P303R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285039	NM_000869.6(HTR3A):c.1183G>A (p.Glu395Lys)	HTR3A (E380K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285038	NM_000869.6(HTR3A):c.383T>C (p.Val128Ala)	HTR3A (V113A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285037	NM_000869.6(HTR3A):c.1330C>T (p.Arg444Cys)	HTR3A (R444C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107521	NM_000869.6(HTR3A):c.896C>T (p.Ala299Val)	HTR3A (A299V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107520	NM_000869.6(HTR3A):c.719G>A (p.Arg240Gln)	HTR3A (R225Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107519	NM_000869.6(HTR3A):c.689C>G (p.Ala230Gly)	HTR3A (A230G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107518	NM_000869.6(HTR3A):c.470G>A (p.Cys157Tyr)	HTR3A (C142Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107517	NM_000869.6(HTR3A):c.424C>A (p.Gln142Lys)	HTR3A (Q142K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107516	NM_000869.6(HTR3A):c.136A>G (p.Arg46Gly)	HTR3A (R31G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107514	NM_000869.6(HTR3A):c.1342G>A (p.Val448Met)	HTR3A (V433M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107513	NM_000869.6(HTR3A):c.1108T>C (p.Ser370Pro)	HTR3A (S370P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689226	NM_000869.6(HTR3A):c.681del (p.Tyr228fs)	HTR3A (Y213fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642384	NM_000869.6(HTR3A):c.1029G>C (p.Leu343=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642383	NM_000869.6(HTR3A):c.408C>T (p.Tyr136=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619130	NM_000869.6(HTR3A):c.132C>A (p.Asn44Lys)	HTR3A (N44K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614426	NM_000869.6(HTR3A):c.1217C>G (p.Pro406Arg)	HTR3A (P406R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612281	NM_000869.6(HTR3A):c.216C>A (p.Asn72Lys)	HTR3A (N57K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612030	NM_000869.6(HTR3A):c.386G>A (p.Gly129Glu)	HTR3A (G114E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555154	NM_000869.6(HTR3A):c.776T>C (p.Met259Thr)	HTR3A (M259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550575	NM_000869.6(HTR3A):c.176C>T (p.Thr59Ile)	HTR3A (T59I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545615	NM_000869.6(HTR3A):c.1010A>G (p.Gln337Arg)	HTR3A (Q322R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523774	NM_000869.6(HTR3A):c.409G>T (p.Val137Leu)	HTR3A (V122L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523173	NM_000869.6(HTR3A):c.1015G>A (p.Val339Met)	HTR3A (V324M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520792	NM_000869.6(HTR3A):c.964G>A (p.Glu322Lys)	HTR3A (E307K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517194	NM_000869.6(HTR3A):c.419G>A (p.Arg140Gln)	HTR3A (R125Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2515190	NM_000869.6(HTR3A):c.646C>T (p.Pro216Ser)	HTR3A (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492799	NM_000869.6(HTR3A):c.1106C>T (p.Thr369Ile)	HTR3A (T401I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487737	NM_000869.6(HTR3A):c.80G>A (p.Arg27Gln)	HTR3A (R27Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2473379	NM_000869.6(HTR3A):c.1357C>G (p.Leu453Val)	HTR3A (L485V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400257	NM_000869.6(HTR3A):c.1247G>A (p.Cys416Tyr)	HTR3A (C448Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375336	NM_000869.6(HTR3A):c.887C>T (p.Pro296Leu)	HTR3A (P281L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371451	NM_000869.6(HTR3A):c.260G>C (p.Arg87Pro)	HTR3A (R72P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358230	NM_000869.6(HTR3A):c.1030C>T (p.Arg344Cys)	HTR3A (R376C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352666	NM_000869.6(HTR3A):c.1432G>A (p.Ala478Thr)	HTR3A (A510T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335987	NM_000869.6(HTR3A):c.376G>A (p.Val126Met)	HTR3A (V111M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321609	NM_000869.6(HTR3A):c.937A>G (p.Met313Val)	HTR3A (M313V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316954	NM_000869.6(HTR3A):c.518T>G (p.Leu173Arg)	HTR3A (L173R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305620	NM_000869.6(HTR3A):c.568T>C (p.Trp190Arg)	HTR3A (W190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299417	NM_000869.6(HTR3A):c.799C>A (p.Pro267Thr)	HTR3A (P267T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226119	NM_000869.6(HTR3A):c.167G>T (p.Arg56Met)	HTR3A (R56M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211788	NM_000869.6(HTR3A):c.430G>A (p.Glu144Lys)	HTR3A (E129K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979325	GRCh37/hg19 11q23.2(chr11:113665729-113872869)x3	HTR3B, HTR3A +1 more	Copy number gain	not provided	GLikely benign
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 781047	NM_000869.6(HTR3A):c.1341C>T (p.Ser447=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768486	NM_000869.6(HTR3A):c.813C>T (p.Gly271=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768485	NM_000869.6(HTR3A):c.783C>T (p.Ile261=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 764982	NM_000869.6(HTR3A):c.655C>T (p.Arg219Trp)	HTR3A (R204W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 754001	NM_000869.6(HTR3A):c.1197G>A (p.Arg399=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732221	NM_000869.6(HTR3A):c.-7G>T	HTR3A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 729176	NM_000869.6(HTR3A):c.374+9C>T	HTR3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716587	NM_000869.6(HTR3A):c.1226G>A (p.Arg409Gln)	HTR3A (R409Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714264	NM_000869.6(HTR3A):c.374+10G>A	HTR3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 69