3360[Gene ID] - ClinVar

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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	ARB2A, CHD1 +385 more	Deletion	Hereditary cancer-predisposing syndrome +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

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Items: 45