CCDC77[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	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 149131	GRCh38/hg38 12p13.33(chr12:54427-936828)x1	B4GALNT3, CCDC77 +44 more	Copy number loss	See cases	GUncertain significance
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	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 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	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 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 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 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	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 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 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 3264304	NM_032358.4(CCDC77):c.13C>T (p.Pro5Ser)	CCDC77 (P5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139401	NM_032358.4(CCDC77):c.74G>A (p.Ser25Asn)	CCDC77 (S25N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2642563	NM_032358.4(CCDC77):c.102A>G (p.Ala34=)	CCDC77	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139394	NM_032358.4(CCDC77):c.109C>G (p.Leu37Val)	CCDC77 (L37V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334085	NM_032358.4(CCDC77):c.122C>T (p.Pro41Leu)	CCDC77 (P9L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513962	NM_032358.4(CCDC77):c.143G>A (p.Arg48His)	CCDC77 (R16H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273778	NM_032358.4(CCDC77):c.244C>T (p.Leu82Phe)	CCDC77 (L50F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387398	NM_032358.4(CCDC77):c.255A>C (p.Glu85Asp)	CCDC77 (E53D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3139398	NM_032358.4(CCDC77):c.331C>A (p.Leu111Ile)	CCDC77 (L79I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139399	NM_032358.4(CCDC77):c.341T>C (p.Met114Thr)	CCDC77 (M114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524626	NM_032358.4(CCDC77):c.469G>C (p.Ala157Pro)	CCDC77 (A125P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539202	NM_032358.4(CCDC77):c.472G>A (p.Gly158Arg)	CCDC77 (G126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467798	NM_032358.4(CCDC77):c.493A>G (p.Lys165Glu)	CCDC77 (K165E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139400	NM_032358.4(CCDC77):c.581C>G (p.Ala194Gly)	CCDC77 (A162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149979	GRCh38/hg38 12p13.33(chr12:431903-1521472)x3	B4GALNT3, CCDC77 +40 more	Copy number gain	See cases	GUncertain significance
Select item 2602167	NM_032358.4(CCDC77):c.635A>G (p.Glu212Gly)	CCDC77 (E180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407348	NM_032358.4(CCDC77):c.654A>G (p.Ile218Met)	CCDC77 (I186M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264305	NM_032358.4(CCDC77):c.665T>A (p.Ile222Asn)	CCDC77 (I222N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264302	NM_032358.4(CCDC77):c.710A>G (p.Lys237Arg)	CCDC77 (K237R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264303	NM_032358.4(CCDC77):c.716C>T (p.Ser239Phe)	CCDC77 (S207F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539278	NM_032358.4(CCDC77):c.736C>T (p.Leu246Phe)	CCDC77 (L214F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345419	NM_032358.4(CCDC77):c.752G>A (p.Arg251Gln)	CCDC77 (R219Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205352	NM_032358.4(CCDC77):c.800A>C (p.Lys267Thr)	CCDC77 (K235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616769	NM_032358.4(CCDC77):c.1013G>A (p.Ser338Asn)	CCDC77 (S306N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338453	NM_032358.4(CCDC77):c.1029T>A (p.Ser343Arg)	CCDC77 (S343R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459201	NM_032358.4(CCDC77):c.1037T>A (p.Ile346Asn)	CCDC77 (I314N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456269	NM_032358.4(CCDC77):c.1099T>C (p.Cys367Arg)	CCDC77 (C367R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239596	NM_032358.4(CCDC77):c.1171C>T (p.Arg391Cys)	CCDC77 (R359C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265053	NM_032358.4(CCDC77):c.1172G>C (p.Arg391Pro)	CCDC77 (R359P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139395	NM_032358.4(CCDC77):c.1261A>G (p.Lys421Glu)	CCDC77 (K421E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139396	NM_032358.4(CCDC77):c.1333G>C (p.Ala445Pro)	CCDC77 (A445P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139397	NM_032358.4(CCDC77):c.1336C>T (p.Arg446Trp)	CCDC77 (R414W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519274	NM_032358.4(CCDC77):c.1344C>A (p.Asn448Lys)	CCDC77 (N448K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262705	NM_032358.4(CCDC77):c.1441C>G (p.Leu481Val)	CCDC77 (L449V +1 more)	Single nucleotide variant (missense variant)	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 2685430	GRCh37/hg19 12p13.33(chr12:332362-534957)x1	CCDC77, KDM5A +1 more	Copy number loss	not provided	GUncertain significance
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 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684665	GRCh37/hg19 12p13.33(chr12:519737-898648)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684663	GRCh37/hg19 12p13.33(chr12:332362-1590974)x3	B4GALNT3, CCDC77 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2582911	GRCh37/hg19 12p13.33(chr12:336731-674567)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
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 1808559	GRCh37/hg19 12p13.33(chr12:261086-586662)x3	B4GALNT3, CCDC77 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808434	GRCh37/hg19 12p13.33(chr12:310522-632400)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
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 1527674	GRCh37/hg19 12p13.33(chr12:310521-864216)	B4GALNT3, CCDC77 +6 more	Copy number gain	not specified	GUncertain significance
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 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 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	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 979955	GRCh37/hg19 12p13.33(chr12:305601-543834)x3	SLC6A13, CCDC77 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815494	GRCh37/hg19 12p13.33(chr12:332661-783484)x3	NINJ2, SLC6A13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 815491	GRCh37/hg19 12p13.33(chr12:173786-825782)x1	CCDC77, SLC6A12 +6 more	Copy number loss	not provided	GUncertain significance
Select item 688503	GRCh37/hg19 12p13.33(chr12:491089-670269)x3	B4GALNT3, CCDC77 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687792	GRCh37/hg19 12p13.33(chr12:274676-690148)x3	B4GALNT3, CCDC77 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687343	GRCh37/hg19 12p13.33(chr12:328575-664046)x1	B4GALNT3, CCDC77 +2 more	Copy number loss	not provided	GUncertain significance
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 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
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 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 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic
Select item 563979	GRCh37/hg19 12p13.33(chr12:173786-2793493)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GPathogenic
Select item 563972	GRCh37/hg19 12p13.33(chr12:310521-1550563)x1	KDM5A, NINJ2 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 563953	GRCh37/hg19 12p13.33(chr12:206798-783484)x3	IQSEC3, B4GALNT3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic

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