HTR1F[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 2621057	NM_001322209.2(HTR1F):c.23A>G (p.Asp8Gly)	HTR1F (D8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220414	NM_001322209.2(HTR1F):c.155G>A (p.Arg52Gln)	HTR1F (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290658	NM_001322209.2(HTR1F):c.257G>A (p.Arg86Lys)	HTR1F (R86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591189	NM_001322209.2(HTR1F):c.259G>C (p.Glu87Gln)	HTR1F (E87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285027	NM_001322209.2(HTR1F):c.415C>A (p.His139Asn)	HTR1F (H139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107495	NM_001322209.2(HTR1F):c.560T>G (p.Phe187Cys)	HTR1F (F187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619180	NM_001322209.2(HTR1F):c.688C>T (p.Leu230Phe)	HTR1F (L230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375740	NM_001322209.2(HTR1F):c.736G>A (p.Val246Ile)	HTR1F (V246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285028	NM_001322209.2(HTR1F):c.866G>A (p.Arg289Gln)	HTR1F (R289Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271126	NM_001322209.2(HTR1F):c.896T>G (p.Leu299Trp)	HTR1F (L299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980019	GRCh37/hg19 3p11.2-11.1(chr3:87877640-88214146)x1	ZNF654, HTR1F +2 more	Copy number loss	not provided	GUncertain significance
Select item 562794	GRCh37/hg19 3p11.1(chr3:87969926-88963355)x3	C3orf38, CGGBP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 20