HTR3A[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
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 2487737	NM_000869.6(HTR3A):c.80G>A (p.Arg27Gln)	HTR3A (R27Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 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 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 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 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 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 729176	NM_000869.6(HTR3A):c.374+9C>T	HTR3A	Single nucleotide variant (intron variant)	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 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 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 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 2642383	NM_000869.6(HTR3A):c.408C>T (p.Tyr136=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 2689226	NM_000869.6(HTR3A):c.681del (p.Tyr228fs)	HTR3A (Y213fs +1 more)	Deletion (frameshift variant)	not provided	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 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 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 768485	NM_000869.6(HTR3A):c.783C>T (p.Ile261=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 768486	NM_000869.6(HTR3A):c.813C>T (p.Gly271=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 2642384	NM_000869.6(HTR3A):c.1029G>C (p.Leu343=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 754001	NM_000869.6(HTR3A):c.1197G>A (p.Arg399=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 781047	NM_000869.6(HTR3A):c.1341C>T (p.Ser447=)	HTR3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
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 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

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Items: 69