ClinVar for Gene (Select 3354) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615094	NM_000865.3(HTR1E):c.724T>C (p.Phe242Leu)	HTR1E (F242L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595326	NM_000865.3(HTR1E):c.243C>G (p.Ile81Met)	HTR1E (I81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594390	NM_000865.3(HTR1E):c.611G>A (p.Arg204Gln)	HTR1E (R204Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519478	NM_000865.3(HTR1E):c.419C>T (p.Ala140Val)	HTR1E (A140V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509865	NM_000865.3(HTR1E):c.755C>G (p.Pro252Arg)	HTR1E (P252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485849	NM_000865.3(HTR1E):c.836A>G (p.Gln279Arg)	HTR1E (Q279R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335281	NM_000865.3(HTR1E):c.391G>A (p.Ala131Thr)	HTR1E (A131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334525	NM_000865.3(HTR1E):c.799C>G (p.Pro267Ala)	HTR1E (P267A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251264	NM_000865.3(HTR1E):c.887T>C (p.Ile296Thr)	HTR1E (I296T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251058	NM_000865.3(HTR1E):c.55A>G (p.Ile19Val)	HTR1E (I19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245801	NM_000865.3(HTR1E):c.961G>A (p.Val321Met)	HTR1E (V321M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808789	GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3	AKIRIN2, C6orf163 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 814844	GRCh37/hg19 6q14.3(chr6:87724126-87800047)x1	CGA, HTR1E	Copy number loss	not provided	GUncertain significance
Select item 814843	GRCh37/hg19 6q14.3(chr6:87564055-87921049)x3	HTR1E, ZNF292 +1 more	Copy number gain	not provided	GLikely benign
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 727832	NM_000865.3(HTR1E):c.570G>A (p.Ala190=)	HTR1E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723586	NM_000865.3(HTR1E):c.800C>A (p.Pro267His)	HTR1E (P267H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721535	NM_000865.3(HTR1E):c.336C>T (p.His112=)	HTR1E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688509	GRCh37/hg19 6q14.3(chr6:87561324-87920197)x3	CGA, HTR1E +1 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 686768	GRCh37/hg19 6q14.3(chr6:86702329-87861145)x3	CGA, HTR1E	Copy number gain	not provided	GUncertain significance
Select item 685658	GRCh37/hg19 6q14.3(chr6:87565438-87920197)x3	CGA, HTR1E +1 more	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443812	GRCh37/hg19 6q14.3(chr6:86967785-87992594)x3	CGA, HTR1E +1 more	Copy number gain	See cases	GUncertain significance
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 441712	GRCh37/hg19 6q14.3(chr6:86910282-87954977)x3	CGA, HTR1E +1 more	Copy number gain	See cases	GUncertain significance
Select item 394694	GRCh37/hg19 6q14.3(chr6:87650323-87870024)x3	CGA, HTR1E +1 more	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 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	C6orf163, CGA +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146699	GRCh38/hg38 6q14.3-15(chr6:86259565-87312972)x3	CGA, GJB7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	AKIRIN2, ANKRD6 +153 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 44