ClinVar for Gene (Select 57102) - ClinVar

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Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254961	NM_020374.4(FERRY3):c.1043_1044del (p.Thr348fs)	FERRY3 (T175fs +2 more)	Microsatellite (frameshift variant +2 more)	Intellectual disability, autosomal recessive 66	GPathogenic
Select item 3067424	NM_020374.4(FERRY3):c.597A>G (p.Glu199=)	FERRY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
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 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642591	NM_020374.4(FERRY3):c.303A>C (p.Thr101=)	FERRY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2630920	NM_020374.4(FERRY3):c.670C>T (p.Gln224Ter)	FERRY3 (Q224* +1 more)	Single nucleotide variant (nonsense +2 more)	C12orf4-related disorder	GLikely pathogenic
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 2439608	NM_020374.4(FERRY3):c.766T>C (p.Ser256Pro)	FERRY3 (S256P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 66	GUncertain significance
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, C12orf4 +7 more	Deletion	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	ACSM4, A2ML1 +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, CCND2 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2399862	NM_020374.4(FERRY3):c.160C>T (p.Pro54Ser)	FERRY3 (P54S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2277678	NM_020374.4(FERRY3):c.172G>A (p.Glu58Lys)	FERRY3 (E58K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2235051	NM_020374.4(FERRY3):c.511G>C (p.Gly171Arg)	FERRY3 (G171R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2197457	NM_020374.4(C12orf4):c.1566+1G>C	C12orf4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2197319	NM_020374.4(C12orf4):c.815_818del (p.Glu272fs)	C12orf4 (E272fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2081241	NM_020374.4(C12orf4):c.484G>T (p.Glu162Ter)	C12orf4 (E162*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1806586	NM_020374.4(C12orf4):c.500_501GA[2] (p.Arg169fs)	C12orf4 (R169fs)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1805729	NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)	C12orf4 (E63*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 66	GPathogenic
Select item 1708135	NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)	C12orf4 (G106fs +4 more)	Indel (frameshift variant +1 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 1527678	GRCh37/hg19 12p13.32(chr12:4520736-4727528)	AKAP3, C12orf4 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	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 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1335092	NM_020374.4(FERRY3):c.1473G>A (p.Ala491=)	FERRY3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1301759	NM_020374.4(FERRY3):c.1499-11T>G	FERRY3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1236814	NM_020374.4(FERRY3):c.1033+320CT[13]	FERRY3	Microsatellite (intron variant)	not provided	GBenign
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1176597	NM_020374.4(FERRY3):c.627G>A (p.Ser209=)	FERRY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	TIGAR, AKAP3 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	FGF23, FGF6 +12 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 987171	NM_020374.4(FERRY3):c.1132C>T (p.Gln378Ter)	FERRY3 (Q205* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 977085	NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)	C12orf4 (R187* +2 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 977084	NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA	C12orf4	Indel (splice acceptor variant +2 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 931775	NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)	C12orf4 (K117fs +4 more)	Insertion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 872305	GRCh37/hg19 12p13.32(chr12:4599065-4645385)x1	FERRY3	Copy number loss	not provided	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 736588	NM_020374.4(FERRY3):c.447T>C (p.Phe149=)	FERRY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 723335	NM_020374.4(FERRY3):c.1082T>C (p.Ile361Thr)	FERRY3 (I361T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 717449	NM_020374.4(C12orf4):c.1566+8A>G	C12orf4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	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 686115	GRCh37/hg19 12p13.32(chr12:4539982-4599776)x3	C12orf4, FGF6	Copy number gain	not provided	GUncertain significance
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 635771	GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3	C12orf4, FGF23 +2 more	Copy number gain	Delayed speech and language development	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 592164	NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)	C12orf4 (R454* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 66 +1 more	GPathogenic/Likely pathogenic
Select item 592163	NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)	C12orf4 (L328P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
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 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563976	GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1	GALNT8, NTF3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443085	GRCh37/hg19 12p13.32(chr12:4118255-4748658)x3	AKAP3, CCND2 +6 more	Copy number gain	See cases	GUncertain significance
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 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, CCND2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 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 279717	NM_020374.4(C12orf4):c.639_642dup (p.Ser215fs)	C12orf4 (S42fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +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
Select item 221485	GRCh37/hg19 12p13.32(chr12:4627993-4665594)x3	FERRY3, RAD51AP1	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 183276	NM_020374.4(FERRY3):c.639_640insACAA (p.Gln214fs)	FERRY3 (Q41fs +1 more)	Insertion (frameshift variant +2 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	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 146376	GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3	CCND2, CCND2-AS1 +30 more	Copy number gain	See cases	GLikely benign
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	See cases	GPathogenic

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Items: 94