CAPRIN2[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 2556523	NM_001385503.1(CAPRIN2):c.3107C>T (p.Thr1036Met)	CAPRIN2 (T1082M +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137234	NM_001385503.1(CAPRIN2):c.2725C>T (p.Pro909Ser)	CAPRIN2 (P551S +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137233	NM_001385503.1(CAPRIN2):c.2719G>A (p.Val907Ile)	CAPRIN2 (V549I +24 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372057	NM_001385503.1(CAPRIN2):c.2617G>A (p.Glu873Lys)	CAPRIN2 (E515K +24 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3137232	NM_001385503.1(CAPRIN2):c.2564C>T (p.Ser855Leu)	CAPRIN2 (S546L +28 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209826	NM_001385503.1(CAPRIN2):c.2555G>A (p.Arg852Gln)	CAPRIN2 (E580K +27 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137231	NM_001385503.1(CAPRIN2):c.2549G>A (p.Gly850Asp)	CAPRIN2 (G541D +28 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386271	NM_001385503.1(CAPRIN2):c.2539A>T (p.Thr847Ser)	CAPRIN2 (T537S +26 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263261	NM_001385503.1(CAPRIN2):c.2533G>C (p.Gly845Arg)	CAPRIN2 (G535R +28 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137230	NM_001385503.1(CAPRIN2):c.2491C>T (p.Pro831Ser)	CAPRIN2 (P495S +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294616	NM_001385503.1(CAPRIN2):c.2480A>G (p.Tyr827Cys)	CAPRIN2 (Y541C +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263258	NM_001385503.1(CAPRIN2):c.2441A>G (p.Asn814Ser)	CAPRIN2 (N456S +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786224	NM_001385503.1(CAPRIN2):c.2418T>C (p.Tyr806=)	CAPRIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3137229	NM_001385503.1(CAPRIN2):c.2329C>T (p.Arg777Trp)	CAPRIN2 (R419W +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779266	NM_001385503.1(CAPRIN2):c.2289G>A (p.Thr763=)	CAPRIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2287265	NM_001385503.1(CAPRIN2):c.2267T>C (p.Leu756Pro)	CAPRIN2 (L420P +19 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523821	NM_001385503.1(CAPRIN2):c.2169G>T (p.Gln723His)	CAPRIN2 (Q413H +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137228	NM_001385503.1(CAPRIN2):c.2141C>T (p.Thr714Ile)	CAPRIN2 (T378I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601957	NM_001385503.1(CAPRIN2):c.2135G>A (p.Ser712Asn)	CAPRIN2 (S376N +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263265	NM_001385503.1(CAPRIN2):c.2119C>T (p.Pro707Ser)	CAPRIN2 (P348S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137227	NM_001385503.1(CAPRIN2):c.2108C>T (p.Ser703Phe)	CAPRIN2 (S451F +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137226	NM_001385503.1(CAPRIN2):c.2092C>A (p.Gln698Lys)	CAPRIN2 (Q339K +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212669	NM_001385503.1(CAPRIN2):c.2049G>T (p.Gln683His)	CAPRIN2 (Q396H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137225	NM_001385503.1(CAPRIN2):c.2038C>G (p.Gln680Glu)	CAPRIN2 (Q726E +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785398	NM_001385503.1(CAPRIN2):c.2004T>C (p.Ser668=)	CAPRIN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2301572	NM_001385503.1(CAPRIN2):c.1960A>G (p.Met654Val)	CAPRIN2 (M367V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489782	NM_001385503.1(CAPRIN2):c.1936T>G (p.Ser646Ala)	CAPRIN2 (S394A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263262	NM_001385503.1(CAPRIN2):c.1919C>T (p.Pro640Leu)	CAPRIN2 (P365L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489356	NM_001385503.1(CAPRIN2):c.1877C>T (p.Thr626Ile)	CAPRIN2 (T351I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 788433	NM_001385503.1(CAPRIN2):c.1800+5C>T	CAPRIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137223	NM_001385503.1(CAPRIN2):c.1733G>C (p.Gly578Ala)	CAPRIN2 (G303A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507609	NM_001385503.1(CAPRIN2):c.1721C>T (p.Ser574Leu)	CAPRIN2 (S574L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406576	NM_001385503.1(CAPRIN2):c.1715C>T (p.Pro572Leu)	CAPRIN2 (P572L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137222	NM_001385503.1(CAPRIN2):c.1640A>G (p.Gln547Arg)	CAPRIN2 (Q547R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604900	NM_001385503.1(CAPRIN2):c.1568G>C (p.Gly523Ala)	CAPRIN2 (G523A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791034	NM_001385503.1(CAPRIN2):c.1540-10T>C	CAPRIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2608810	NM_001385503.1(CAPRIN2):c.1510C>T (p.Pro504Ser)	CAPRIN2 (P252S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487561	NM_001385503.1(CAPRIN2):c.1472T>C (p.Val491Ala)	CAPRIN2 (V216A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486155	NM_001385503.1(CAPRIN2):c.1468G>A (p.Gly490Arg)	CAPRIN2 (G490R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337575	NM_001385503.1(CAPRIN2):c.1352C>G (p.Pro451Arg)	CAPRIN2 (P176R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263257	NM_001385503.1(CAPRIN2):c.1059G>C (p.Lys353Asn)	CAPRIN2 (K434N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623582	NM_001385503.1(CAPRIN2):c.988G>C (p.Asp330His)	CAPRIN2 (D330H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263256	NM_001385503.1(CAPRIN2):c.974T>C (p.Met325Thr)	CAPRIN2 (M325T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137220	NM_001385503.1(CAPRIN2):c.958C>T (p.Pro320Ser)	CAPRIN2 (P401S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623271	NM_001385503.1(CAPRIN2):c.811G>C (p.Glu271Gln)	CAPRIN2 (E271Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263259	NM_001385503.1(CAPRIN2):c.797C>T (p.Thr266Ile)	CAPRIN2 (T14I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 932666	NM_001385503.1(CAPRIN2):c.771A>C (p.Ser257=)	CAPRIN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 785399	NM_001385503.1(CAPRIN2):c.758T>C (p.Met253Thr)	CAPRIN2 (M1T +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2536614	NM_001385503.1(CAPRIN2):c.731A>G (p.Glu244Gly)	CAPRIN2 (E325G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2642814	NM_001385503.1(CAPRIN2):c.728A>G (p.Lys243Arg)	CAPRIN2 (K243R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 3263263	NM_001385503.1(CAPRIN2):c.695A>G (p.Tyr232Cys)	CAPRIN2 (Y232C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137240	NM_001385503.1(CAPRIN2):c.664G>A (p.Asp222Asn)	CAPRIN2 (D222N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2295548	NM_001385503.1(CAPRIN2):c.656A>T (p.His219Leu)	CAPRIN2 (H300L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 806854	NM_001385503.1(CAPRIN2):c.649_650del (p.Tyr217fs)	CAPRIN2 (Y217fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3137239	NM_001385503.1(CAPRIN2):c.462C>G (p.Asp154Glu)	CAPRIN2 (D154E +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2314822	NM_001385503.1(CAPRIN2):c.412C>A (p.Gln138Lys)	CAPRIN2 (Q219K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137238	NM_001385503.1(CAPRIN2):c.338C>T (p.Ala113Val)	CAPRIN2 (A113V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137237	NM_001385503.1(CAPRIN2):c.314G>A (p.Gly105Glu)	CAPRIN2 (G105E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246684	NM_001385503.1(CAPRIN2):c.247G>A (p.Val83Ile)	CAPRIN2 (V83I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271182	NM_001385503.1(CAPRIN2):c.130G>C (p.Gly44Arg)	CAPRIN2 (G44R +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3137236	NM_001385503.1(CAPRIN2):c.83G>A (p.Ser28Asn)	CAPRIN2 (S109N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2513164	NM_001385503.1(CAPRIN2):c.51G>C (p.Gln17His)	CAPRIN2 (Q17H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2471002	NM_001385503.1(CAPRIN2):c.36G>T (p.Gln12His)	CAPRIN2 (Q12H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137224	NM_001385503.1(CAPRIN2):c.-30G>A	CAPRIN2 (G72S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137221	NM_001385503.1(CAPRIN2):c.-39-36A>G	CAPRIN2 (M57V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386700	NM_001385503.1(CAPRIN2):c.-39-90A>C	CAPRIN2 (S39R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362525	NM_001385503.1(CAPRIN2):c.-39-136G>T	CAPRIN2 (E23D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263264	NM_001385503.1(CAPRIN2):c.-39-149A>T	CAPRIN2 (K19M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 96