HTR1A[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 153515	GRCh38/hg38 5q12.2-12.3(chr5:63826033-64429460)x3	HTR1A, LOC121079939 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2431430	NM_000524.4(HTR1A):c.980_1039del (p.Arg327_Thr346del)	HTR1A	Deletion (inframe_deletion)	Menstrual cycle-dependent periodic fever	GUncertain significance
Select item 3026222	NM_000524.4(HTR1A):c.1015dup (p.Arg339fs)	HTR1A (R339fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2655489	NM_000524.4(HTR1A):c.1002G>A (p.Lys334=)	HTR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701478	NM_000524.4(HTR1A):c.1000A>C (p.Lys334Gln)	HTR1A (K334Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3051192	NM_000524.4(HTR1A):c.975T>C (p.Asn325=)	HTR1A	Single nucleotide variant (synonymous variant)	HTR1A-related condition	GLikely benign
Select item 2274024	NM_000524.4(HTR1A):c.955G>A (p.Ala319Thr)	HTR1A (A319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569920	NM_000524.4(HTR1A):c.902C>T (p.Ser301Phe)	HTR1A (S301F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797768	NM_000524.4(HTR1A):c.861C>T (p.Gly287=)	HTR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655490	NM_000524.4(HTR1A):c.858T>C (p.Asp286=)	HTR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779885	NM_000524.4(HTR1A):c.818G>A (p.Gly273Asp)	HTR1A (G273D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2616225	NM_000524.4(HTR1A):c.753G>C (p.Lys251Asn)	HTR1A (K251N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228373	NM_000524.4(HTR1A):c.748C>T (p.Pro250Ser)	HTR1A (P250S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655491	NM_000524.4(HTR1A):c.709G>A (p.Gly237Arg)	HTR1A (G237R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2237962	NM_000524.4(HTR1A):c.674G>A (p.Arg225His)	HTR1A (R225H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315755	NM_000524.4(HTR1A):c.659G>T (p.Arg220Leu)	HTR1A (R220L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 725315	NM_000524.4(HTR1A):c.545C>T (p.Ser182Leu)	HTR1A (S182L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 713593	NM_000524.4(HTR1A):c.465G>T (p.Ala155=)	HTR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781737	NM_000524.4(HTR1A):c.464C>G (p.Ala155Gly)	HTR1A (A155G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 746639	NM_000524.4(HTR1A):c.423C>T (p.Pro141=)	HTR1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2312808	NM_000524.4(HTR1A):c.416C>T (p.Thr139Met)	HTR1A (T139M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677039	NM_000524.4(HTR1A):c.390C>A (p.Ile130=)	HTR1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2252062	NM_000524.4(HTR1A):c.295C>T (p.Leu99Phe)	HTR1A (L99F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048921	NM_000524.4(HTR1A):c.275T>C (p.Met92Thr)	HTR1A (M92T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711311	NM_000524.4(HTR1A):c.96C>G (p.Thr32=)	HTR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771709	NM_000524.4(HTR1A):c.82A>G (p.Ile28Val)	HTR1A (I28V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713219	NM_000524.4(HTR1A):c.47C>T (p.Pro16Leu)	HTR1A (P16L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2205795	NM_000524.4(HTR1A):c.32A>C (p.Asn11Thr)	HTR1A (N11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 31658	NM_000524.4(HTR1A):c.-480del	HTR1A	Deletion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375667	NM_000524.3(HTR1A):c.-1019G>C	HTR1A	Single nucleotide variant	not specified	GLikely benign
Select item 226009	NM_000524.3(HTR1A):c.-1019G>G	HTR1A	Single nucleotide variant	not specified	GBenign
Select item 1252728	NC_000005.10:g.63965502C>T	HTR1A	Single nucleotide variant	not provided	GBenign
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 1706518	GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1	ZSWIM6, C5orf64 +12 more	Copy number loss	See cases	GPathogenic
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442491	GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1	C5orf64, DEPDC1B +12 more	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, C5orf64 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 44