GPR148[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 148546	GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	AMER3, ARHGEF4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 154209	GRCh38/hg38 2q21.1(chr2:130684164-131278036)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 149080	GRCh38/hg38 2q21.1(chr2:130720159-131196705)x1	AMER3, ARHGEF4 +12 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152346	GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1	AMER3, ARHGEF4 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 155407	GRCh38/hg38 2q21.1(chr2:130720374-131388759)x3	AMER3, ARHGEF4 +16 more	Copy number gain	See cases	GLikely benign
Select item 545243	NC_000002.12:g.(?_130725519)_(131168548_?)del	AMER3, ARHGEF4 +12 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 3101448	NM_207364.2(GPR148):c.13C>G (p.Leu5Val)	GPR148 (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535072	NM_207364.2(GPR148):c.64A>G (p.Ile22Val)	GPR148 (I22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244873	NM_207364.2(GPR148):c.121G>A (p.Asp41Asn)	GPR148 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552154	NM_207364.2(GPR148):c.134C>T (p.Pro45Leu)	GPR148 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492050	NM_207364.2(GPR148):c.182C>T (p.Ala61Val)	GPR148 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101449	NM_207364.2(GPR148):c.236G>A (p.Arg79Gln)	GPR148 (R79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207255	NM_207364.2(GPR148):c.242G>A (p.Arg81Gln)	GPR148 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101450	NM_207364.2(GPR148):c.305T>C (p.Leu102Pro)	GPR148 (L102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230499	NM_207364.2(GPR148):c.322T>C (p.Ser108Pro)	GPR148 (S108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288219	NM_207364.2(GPR148):c.330C>A (p.Ser110Arg)	GPR148 (S110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388432	NM_207364.2(GPR148):c.353G>A (p.Arg118His)	GPR148 (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341024	NM_207364.2(GPR148):c.391G>A (p.Ala131Thr)	GPR148 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403026	NM_207364.2(GPR148):c.421G>A (p.Ala141Thr)	GPR148 (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219030	NM_207364.2(GPR148):c.463C>T (p.Arg155Cys)	GPR148 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205394	NM_207364.2(GPR148):c.595G>A (p.Ala199Thr)	GPR148 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255189	NM_207364.2(GPR148):c.614C>G (p.Pro205Arg)	GPR148 (P205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544202	NM_207364.2(GPR148):c.631C>T (p.Pro211Ser)	GPR148 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604495	NM_207364.2(GPR148):c.659C>T (p.Thr220Ile)	GPR148 (T220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547242	NM_207364.2(GPR148):c.670A>G (p.Ile224Val)	GPR148 (I224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291286	NM_207364.2(GPR148):c.713G>C (p.Cys238Ser)	GPR148 (C238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595270	NM_207364.2(GPR148):c.773G>A (p.Arg258Gln)	GPR148 (R258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547547	NM_207364.2(GPR148):c.805C>G (p.Leu269Val)	GPR148 (L269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559779	NM_207364.2(GPR148):c.820G>A (p.Val274Met)	GPR148 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238382	NM_207364.2(GPR148):c.883G>A (p.Gly295Arg)	GPR148 (G295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101451	NM_207364.2(GPR148):c.907G>C (p.Ala303Pro)	GPR148 (A303P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333840	NM_207364.2(GPR148):c.916G>C (p.Glu306Gln)	GPR148 (E306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606526	NM_207364.2(GPR148):c.922C>A (p.Leu308Ile)	GPR148 (L308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255190	NM_207364.2(GPR148):c.928A>G (p.Met310Val)	GPR148 (M310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349603	NM_207364.2(GPR148):c.973C>T (p.Arg325Trp)	GPR148 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357443	NM_207364.2(GPR148):c.994C>T (p.Arg332Trp)	GPR148 (R332W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213068	NM_207364.2(GPR148):c.1022A>G (p.Gln341Arg)	GPR148 (Q341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489636	NM_207364.2(GPR148):c.1027A>G (p.Ile343Val)	GPR148 (I343V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1808259	GRCh37/hg19 2q21.1(chr2:131452093-132035609)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1341253	GRCh37/hg19 2q21.1(chr2:131477947-132215063)x1	AMER3, ARHGEF4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340706	GRCh37/hg19 2q21.1(chr2:131441707-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 980585	GRCh37/hg19 2q21.1(chr2:131441737-131738211)x3	AMER3, ARHGEF4 +1 more	Copy number gain	not provided	GLikely benign
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814305	GRCh37/hg19 2q21.1(chr2:131477947-132280823)x1	ARHGEF4, TUBA3D +6 more	Copy number loss	not provided	GUncertain significance
Select item 689335	GRCh37/hg19 2q21.1(chr2:131391068-132046784)x3	AMER3, ARHGEF4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688601	GRCh37/hg19 2q21.1(chr2:131452092-131934102)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 688280	GRCh37/hg19 2q21.1(chr2:131477947-131997817)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686711	GRCh37/hg19 2q21.1(chr2:131461909-131967138)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686172	GRCh37/hg19 2q21.1(chr2:131441707-131950529)x3	AMER3, ARHGEF4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685441	GRCh37/hg19 2q21.1(chr2:131461909-131929142)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685387	GRCh37/hg19 2q21.1(chr2:131452092-132269288)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685027	GRCh37/hg19 2q21.1(chr2:131441725-132267790)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685009	GRCh37/hg19 2q21.1(chr2:131461909-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 684908	GRCh37/hg19 2q21.1(chr2:131478004-131967138)x3	AMER3, ARHGEF4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635912	Single allele	AMER3, CFC1 +4 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625693	GRCh37/hg19 2q21.1(chr2:131487820-132166509)	AMER3, ARHGEF4 +4 more	Copy number loss	not provided	GPathogenic
Select item 625692	GRCh37/hg19 2q21.1(chr2:131486951-131933628)	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 562617	GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	TUBA3E, PTPN18 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 562611	GRCh37/hg19 2q21.1(chr2:131440484-132126860)x3	FAM168B, GPR148 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562599	GRCh37/hg19 2q21.1(chr2:131477947-132048781)x1	FAM168B, ARHGEF4 +4 more	Copy number loss	not provided	GLikely benign
Select item 562589	GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1	PLEKHB2, FAM168B +3 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443891	GRCh37/hg19 2q21.1(chr2:131477947-131933576)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 443124	GRCh37/hg19 2q21.1(chr2:131477746-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443109	GRCh37/hg19 2q21.1(chr2:131440484-132063736)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443070	GRCh37/hg19 2q21.1(chr2:131477947-131956545)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442906	GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 442575	GRCh37/hg19 2q21.1(chr2:131477947-131975365)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 442082	GRCh37/hg19 2q21.1(chr2:131477947-132048781)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 441546	GRCh37/hg19 2q21.1(chr2:131477947-131950529)x1	AMER3, ARHGEF4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 395474	GRCh37/hg19 2q21.1(chr2:131442815-131524418)x3	AMER3, GPR148	Copy number gain	See cases	GBenign
Select item 395307	GRCh37/hg19 2q21.1(chr2:131438951-131976059)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GLikely benign
Select item 226134	GRCh37/hg19 2q21.1(chr2:131485402-132024166)	AMER3, GPR148 +4 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 87