5299[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 2379746	NM_000870.7(HTR4):c.1129A>C (p.Thr377Pro)	HTR4 (T417P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776075	NM_000870.7(HTR4):c.1115G>A (p.Cys372Tyr)	HTR4 (C412Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3107577	NM_000870.7(HTR4):c.1090T>C (p.Cys364Arg)	HTR4 (C364R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542947	NM_000870.7(HTR4):c.1084G>A (p.Val362Met)	HTR4 (V402M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 780569	NM_000870.7(HTR4):c.1077-996A>G	HTR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2286601	NM_000870.7(HTR4):c.1077-1060T>C	HTR4 (I368T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2431081	NM_000870.7(HTR4):c.1076+211C>A	HTR4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 792016	NM_000870.7(HTR4):c.1068T>C (p.His356=)	HTR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3107576	NM_000870.7(HTR4):c.1067A>G (p.His356Arg)	HTR4 (H356R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240437	NM_000870.7(HTR4):c.962G>A (p.Arg321His)	HTR4 (R321H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107583	NM_000870.7(HTR4):c.945G>C (p.Leu315Phe)	HTR4 (L315F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285057	NM_000870.7(HTR4):c.787A>G (p.Ile263Val)	HTR4 (I263V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511736	NM_000870.7(HTR4):c.749G>A (p.Arg250His)	HTR4 (R250H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107582	NM_000870.7(HTR4):c.740G>A (p.Ser247Asn)	HTR4 (S247N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346776	NM_000870.7(HTR4):c.709G>A (p.Glu237Lys)	HTR4 (E237K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244381	NM_000870.7(HTR4):c.644T>A (p.Ile215Asn)	HTR4 (I215N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561027	NM_000870.7(HTR4):c.641G>A (p.Arg214His)	HTR4 (R214H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285055	NM_000870.7(HTR4):c.624G>A (p.Met208Ile)	HTR4 (M208I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107580	NM_000870.7(HTR4):c.593T>C (p.Val198Ala)	HTR4 (V198A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318172	NM_000870.7(HTR4):c.578C>T (p.Ala193Val)	HTR4 (A193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309402	NM_000870.7(HTR4):c.531G>C (p.Gln177His)	HTR4 (Q177H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107579	NM_000870.7(HTR4):c.518G>A (p.Arg173Lys)	HTR4 (R173K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107578	NM_000870.7(HTR4):c.409C>A (p.Arg137Ser)	HTR4 (R137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232180	NM_000870.7(HTR4):c.205G>A (p.Val69Ile)	HTR4 (V69I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107584	NM_000870.7(HTR4):c.95T>C (p.Met32Thr)	HTR4 (M32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285056	NM_000870.7(HTR4):c.83C>T (p.Thr28Met)	HTR4 (T28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709214	NM_000870.7(HTR4):c.43G>A (p.Gly15Arg)	HTR4 (G15R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2431086	NM_000870.7(HTR4):c.26+7221G>A	HTR4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GLikely benign
Select item 2431189	NM_000870.7(HTR4):c.26+354C>A	HTR4	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GBenign
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45