CAPRIN1[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 3137214	NM_005898.5(CAPRIN1):c.112G>A (p.Ala38Thr)	CAPRIN1 (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314446	NM_005898.5(CAPRIN1):c.119A>T (p.Gln40Leu)	CAPRIN1 (Q40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475678	NM_005898.5(CAPRIN1):c.169A>T (p.Ile57Phe)	CAPRIN1 (I57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570649	NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)	CAPRIN1 (Q92*)	Single nucleotide variant (nonsense)	Seizure +3 more	GLikely pathogenic
Select item 1803575	NM_005898.5(CAPRIN1):c.301del (p.Glu101fs)	CAPRIN1 (E101fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2663435	NM_005898.5(CAPRIN1):c.325G>T (p.Ala109Ser)	CAPRIN1 (A109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295352	NM_005898.5(CAPRIN1):c.394C>T (p.Arg132Cys)	CAPRIN1 (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033054	NM_005898.5(CAPRIN1):c.523G>C (p.Val175Leu)	CAPRIN1 (V175L)	Single nucleotide variant (missense variant)	CAPRIN1-related disorder	GUncertain significance
Select item 2334167	NM_005898.5(CAPRIN1):c.535T>C (p.Ser179Pro)	CAPRIN1 (S179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580544	NM_005898.5(CAPRIN1):c.567C>G (p.Phe189Leu)	CAPRIN1 (F189L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606471	NM_005898.5(CAPRIN1):c.611A>G (p.Asn204Ser)	CAPRIN1 (N204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137218	NM_005898.5(CAPRIN1):c.674T>C (p.Val225Ala)	CAPRIN1 (V225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982189	NM_005898.5(CAPRIN1):c.811C>T (p.Gln271Ter)	CAPRIN1 (Q271*)	Single nucleotide variant (nonsense)	Moyamoya angiopathy	GLikely pathogenic
Select item 2544444	NM_005898.5(CAPRIN1):c.848A>G (p.Tyr283Cys)	CAPRIN1 (Y283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069139	NM_005898.5(CAPRIN1):c.879G>A (p.Glu293=)	CAPRIN1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	GPathogenic
Select item 2580936	NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)	CAPRIN1 (R297fs)	Deletion (frameshift variant)	Juvenile myoclonic epilepsy	GPathogenic
Select item 3069140	NM_005898.5(CAPRIN1):c.892C>T (p.Gln298Ter)	CAPRIN1 (Q298*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	GPathogenic
Select item 2573777	NM_005898.5(CAPRIN1):c.944A>T (p.Glu315Val)	CAPRIN1 (E315V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614121	NM_005898.5(CAPRIN1):c.974A>G (p.Asn325Ser)	CAPRIN1 (N325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809826	NM_005898.5(CAPRIN1):c.977C>A (p.Ser326Ter)	CAPRIN1 (S326*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3137219	NM_005898.5(CAPRIN1):c.985C>G (p.Gln329Glu)	CAPRIN1 (Q329E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682511	NM_005898.5(CAPRIN1):c.989A>G (p.Gln330Arg)	CAPRIN1 (Q330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430060	NM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe)	CAPRIN1 (L362F)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1265402	NM_005898.5(CAPRIN1):c.1122+19G>A	CAPRIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3069141	NM_005898.5(CAPRIN1):c.1195C>T (p.Gln399Ter)	CAPRIN1 (Q399*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	GPathogenic
Select item 2190934	NM_005898.5(CAPRIN1):c.1271C>T (p.Pro424Leu)	CAPRIN1 (P424L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632297	NM_005898.5(CAPRIN1):c.1432A>G (p.Thr478Ala)	CAPRIN1 (T478A)	Single nucleotide variant (missense variant)	CAPRIN1-related disorder	GUncertain significance
Select item 3137215	NM_005898.5(CAPRIN1):c.1456G>A (p.Ala486Thr)	CAPRIN1 (A486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710836	NM_005898.5(CAPRIN1):c.1457C>T (p.Ala486Val)	CAPRIN1 (A486V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338774	NM_005898.5(CAPRIN1):c.1493_1496del (p.Ser498fs)	CAPRIN1 (S498fs)	Deletion (frameshift variant)	CAPRIN1-related neurodevelopmental disorders	GPathogenic
Select item 2480053	NM_005898.5(CAPRIN1):c.1502T>C (p.Leu501Ser)	CAPRIN1 (L501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664503	NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)	CAPRIN1 (P512L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2691865	NM_005898.5(CAPRIN1):c.1554+2T>C	CAPRIN1	Single nucleotide variant (splice donor variant)	Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	GUncertain significance
Select item 2507145	NM_005898.5(CAPRIN1):c.1562A>G (p.Asn521Ser)	CAPRIN1 (N521S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3137216	NM_005898.5(CAPRIN1):c.1627G>C (p.Ala543Pro)	CAPRIN1 (A543P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500315	NM_005898.5(CAPRIN1):c.1654C>T (p.Gln552Ter)	CAPRIN1 (Q552*)	Single nucleotide variant (nonsense)	Focal-onset seizure +2 more	GLikely pathogenic
Select item 1712044	NM_005898.5(CAPRIN1):c.1660C>T (p.His554Tyr)	CAPRIN1 (H554Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3069142	NM_005898.5(CAPRIN1):c.1744C>T (p.Gln582Ter)	CAPRIN1 (Q582*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	GPathogenic
Select item 2576555	NM_005898.5(CAPRIN1):c.1815C>G (p.Tyr605Ter)	CAPRIN1 (Y605*)	Single nucleotide variant (nonsense)	CAPRIN1-associated disorder	GUncertain significance
Select item 3137217	NM_005898.5(CAPRIN1):c.1866G>A (p.Met622Ile)	CAPRIN1 (M622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594395	NM_005898.5(CAPRIN1):c.1889A>G (p.Asn630Ser)	CAPRIN1 (N630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576641	NM_005898.5(CAPRIN1):c.1919G>A (p.Arg640His)	CAPRIN1 (R640H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871799	NM_005898.5(CAPRIN1):c.1948G>A (p.Gly650Ser)	CAPRIN1 (G650S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098689	NM_005898.5(CAPRIN1):c.2047C>A (p.Pro683Thr)	CAPRIN1 (P683T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815425	GRCh37/hg19 11p13(chr11:33221821-34569417)x1	ELF5, FBXO3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 563865	GRCh37/hg19 11p13(chr11:33297483-34359612)x3	LMO2, HIPK3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	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: 63