ClinVar for Gene (Select 3351) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550963	NM_000863.3(HTR1B):c.20A>C (p.Gln7Pro)	HTR1B (Q7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340913	NM_000863.3(HTR1B):c.640G>A (p.Val214Met)	HTR1B (V214M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327757	NM_000863.3(HTR1B):c.1036T>C (p.Phe346Leu)	HTR1B (F346L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293532	NM_000863.3(HTR1B):c.1072G>C (p.Gly358Arg)	HTR1B (G358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808485	GRCh37/hg19 6q14.1(chr6:77773778-80880138)x3	BCKDHB, ELOVL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	B3GAT2, CD109 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527254	GRCh37/hg19 6q14.1(chr6:76680462-78260898)	HTR1B, IMPG1	Copy number gain	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	KHDC3L, LCA5 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980211	GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1	IRAK1BP1, CD109 +13 more	Copy number loss	not provided	GPathogenic
Select item 746019	NM_000863.3(HTR1B):c.105C>A (p.Ala35=)	HTR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736826	NM_000863.3(HTR1B):c.675C>T (p.Ile225=)	HTR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563195	GRCh37/hg19 6q14.1(chr6:77841102-79060009)x1	HTR1B	Copy number loss	not provided	GUncertain significance
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	DDX43, TMEM30A +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442962	GRCh37/hg19 6q14.1(chr6:77755256-78440782)x3	HTR1B	Copy number gain	See cases	GUncertain significance
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 147772	GRCh38/hg38 6q14.1(chr6:77054858-77642277)x3	HTR1B, LOC105377862 +7 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 23