HTR3B[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 2271903	NM_006028.5(HTR3B):c.106A>G (p.Ser36Gly)	HTR3B (S25G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495005	NM_006028.5(HTR3B):c.167C>T (p.Ala56Val)	HTR3B (A45V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298716	NM_006028.5(HTR3B):c.215A>T (p.Asp72Val)	HTR3B (D61V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790848	NM_006028.5(HTR3B):c.369-3T>C	HTR3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2606080	NM_006028.5(HTR3B):c.407A>G (p.Tyr136Cys)	HTR3B (Y136C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401467	NM_006028.5(HTR3B):c.445A>G (p.Ile149Val)	HTR3B (I149V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210166	NM_006028.5(HTR3B):c.467G>A (p.Ser156Asn)	HTR3B (S156N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481783	NM_006028.5(HTR3B):c.713A>T (p.His238Leu)	HTR3B (H227L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273360	NM_006028.5(HTR3B):c.730G>A (p.Val244Met)	HTR3B (V233M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606940	NM_006028.5(HTR3B):c.769G>T (p.Asp257Tyr)	HTR3B (D257Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716973	NM_006028.5(HTR3B):c.812T>G (p.Ile271Ser)	HTR3B (I260S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2383649	NM_006028.5(HTR3B):c.863T>G (p.Met288Arg)	HTR3B (M288R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777860	NM_006028.5(HTR3B):c.967T>G (p.Leu323Val)	HTR3B (L312V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785385	NM_006028.5(HTR3B):c.1060G>A (p.Glu354Lys)	HTR3B (E343K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305395	NM_006028.5(HTR3B):c.1108G>A (p.Glu370Lys)	HTR3B (E359K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283562	NM_006028.5(HTR3B):c.1214G>T (p.Trp405Leu)	HTR3B (W405L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	GRIA4, GRIK4 +956 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	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +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	AASDHPPT, ABCG4 +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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 34