6743[HGNC] - ClinVar

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Items: 78

	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 3263254	NM_005898.5(CAPRIN1):c.113C>T (p.Ala38Val)	CAPRIN1 (A38V)	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 3252320	NM_005898.5(CAPRIN1):c.230A>G (p.Asp77Gly)	CAPRIN1 (D77G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342687	NM_005898.5(CAPRIN1):c.241C>T (p.Arg81Ter)	CAPRIN1 (R81*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3263255	NM_005898.5(CAPRIN1):c.554T>G (p.Leu185Trp)	CAPRIN1 (L185W)	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 3369415	NM_005898.5(CAPRIN1):c.587A>C (p.Glu196Ala)	CAPRIN1 (E196A)	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 3263253	NM_005898.5(CAPRIN1):c.617A>G (p.Gln206Arg)	CAPRIN1 (Q206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263251	NM_005898.5(CAPRIN1):c.659G>T (p.Gly220Val)	CAPRIN1 (G220V)	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 3373614	NM_005898.5(CAPRIN1):c.688+5G>A	CAPRIN1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3364650	NM_005898.5(CAPRIN1):c.808G>T (p.Asp270Tyr)	CAPRIN1 (D270Y)	Single nucleotide variant (missense variant)	not provided	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 3371640	NM_005898.5(CAPRIN1):c.890G>C (p.Arg297Thr)	CAPRIN1 (R297T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3263252	NM_005898.5(CAPRIN1):c.897C>G (p.Phe299Leu)	CAPRIN1 (F299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	GPathogenic
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 3363917	NM_005898.5(CAPRIN1):c.1582C>A (p.Pro528Thr)	CAPRIN1 (P528T)	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 3345374	NM_005898.5(CAPRIN1):c.1648del (p.Ser550fs)	CAPRIN1 (S550fs)	Deletion (frameshift variant)	CAPRIN1-related disorder	GLikely pathogenic
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	GLikely pathogenic
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 3363469	NM_005898.5(CAPRIN1):c.1834C>G (p.Arg612Gly)	CAPRIN1 (R612G)	Single nucleotide variant (missense variant)	not provided	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 3367404	NM_005898.5(CAPRIN1):c.1967T>G (p.Phe656Cys)	CAPRIN1 (F656C)	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	MAML2, MAP3K11 +955 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	MMP13, MMP20 +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	DKK3, DNAJC24 +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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +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	ART5, CCDC34 +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

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Items: 78