HTR6[gene] - ClinVar

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Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 152815	GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3	AKR7A2, AKR7A3 +39 more	Copy number gain	See cases	GLikely benign
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 2306175	NM_000871.3(HTR6):c.23C>T (p.Thr8Ile)	HTR6 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767660	NM_000871.3(HTR6):c.52G>C (p.Gly18Arg)	HTR6 (G18R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2215674	NM_000871.3(HTR6):c.128C>T (p.Ala43Val)	HTR6 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780219	NM_000871.3(HTR6):c.264G>A (p.Leu88=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2455649	NM_000871.3(HTR6):c.265T>C (p.Tyr89His)	HTR6 (Y89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395828	NM_000871.3(HTR6):c.266A>G (p.Tyr89Cys)	HTR6 (Y89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469670	NM_000871.3(HTR6):c.334G>A (p.Ala112Thr)	HTR6 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252422	NM_000871.3(HTR6):c.353G>A (p.Cys118Tyr)	HTR6 (C118Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107596	NM_000871.3(HTR6):c.437T>C (p.Leu146Pro)	HTR6 (L146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716797	NM_000871.3(HTR6):c.462C>T (p.Ala154=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3107597	NM_000871.3(HTR6):c.481C>T (p.Pro161Ser)	HTR6 (P161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239531	NM_000871.3(HTR6):c.506T>C (p.Leu169Pro)	HTR6 (L169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777324	NM_000871.3(HTR6):c.543C>T (p.Arg181=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315529	NM_000871.3(HTR6):c.605G>T (p.Gly202Val)	HTR6 (G202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288521	NM_000871.3(HTR6):c.610A>G (p.Ile204Val)	HTR6 (I204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273093	NM_000871.3(HTR6):c.658G>A (p.Val220Met)	HTR6 (V220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470021	NM_000871.3(HTR6):c.731G>A (p.Arg244His)	HTR6 (R244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331712	NM_000871.3(HTR6):c.764T>C (p.Leu255Pro)	HTR6 (L255P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479548	NM_000871.3(HTR6):c.783G>C (p.Arg261Ser)	HTR6 (R261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756594	NM_000871.3(HTR6):c.820C>T (p.Leu274=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107598	NM_000871.3(HTR6):c.877G>A (p.Val293Met)	HTR6 (V293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205324	NM_000871.3(HTR6):c.944T>G (p.Met315Arg)	HTR6 (M315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107599	NM_000871.3(HTR6):c.973C>T (p.Arg325Trp)	HTR6 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107594	NM_000871.3(HTR6):c.1015C>T (p.Arg339Cys)	HTR6 (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217508	NM_000871.3(HTR6):c.1060C>T (p.Arg354Cys)	HTR6 (R354C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107595	NM_000871.3(HTR6):c.1064C>T (p.Thr355Ile)	HTR6 (T355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357347	NM_000871.3(HTR6):c.1139C>T (p.Ser380Leu)	HTR6 (S380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471075	NM_000871.3(HTR6):c.1150G>T (p.Ala384Ser)	HTR6 (A384S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217446	NM_000871.3(HTR6):c.1178G>T (p.Arg393Leu)	HTR6 (R393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780220	NM_000871.3(HTR6):c.1251C>T (p.Ala417=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2490470	NM_000871.3(HTR6):c.1267A>G (p.Ile423Val)	HTR6 (I423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599213	NM_000871.3(HTR6):c.1270G>A (p.Asp424Asn)	HTR6 (D424N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 748276	NM_000871.3(HTR6):c.1278G>A (p.Ala426=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785788	NM_000871.3(HTR6):c.1296G>A (p.Pro432=)	HTR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2239565	NM_000871.3(HTR6):c.1301C>T (p.Pro434Leu)	HTR6 (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715329	NM_000871.3(HTR6):c.1316C>T (p.Thr439Met)	HTR6 (T439M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	VWA5B1, WNT4 +49 more	Duplication	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 980390	GRCh37/hg19 1p36.13(chr1:19809464-20123500)x3	TMCO4, CAPZB +4 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 253734	GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3	TMCO4, HTR6 +9 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 59