CCDC59[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 2311503	NM_014167.5(CCDC59):c.713A>C (p.Gln238Pro)	CCDC59 (Q238P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537015	NM_014167.5(CCDC59):c.698T>G (p.Leu233Arg)	CCDC59 (L233R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323000	NM_014167.5(CCDC59):c.688A>G (p.Met230Val)	CCDC59 (M230V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139226	NM_014167.5(CCDC59):c.586G>C (p.Glu196Gln)	CCDC59 (E196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313487	NM_014167.5(CCDC59):c.565G>A (p.Glu189Lys)	CCDC59 (E189K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368017	NM_014167.5(CCDC59):c.393C>G (p.Asp131Glu)	CCDC59 (D131E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262165	NM_014167.5(CCDC59):c.278T>C (p.Leu93Pro)	CCDC59 (L93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374534	NM_014167.5(CCDC59):c.182T>A (p.Leu61Gln)	CCDC59 (L61Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404809	NM_014167.5(CCDC59):c.148C>T (p.Arg50Cys)	CCDC59 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555382	NM_014167.5(CCDC59):c.45T>G (p.Ile15Met)	CCDC59 (I15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139225	NM_014167.5(CCDC59):c.34C>T (p.Pro12Ser)	CCDC59 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246278	NM_014167.5(CCDC59):c.31C>T (p.Arg11Trp)	CCDC59 (R11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330622	NM_014167.5(CCDC59):c.16C>G (p.Arg6Gly)	CCDC59 (R6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524422	NM_014167.5(CCDC59):c.13A>G (p.Arg5Gly)	CCDC59 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606168	NM_032230.3(METTL25):c.5C>T (p.Ala2Val)	CCDC59, METTL25 (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2287789	NM_032230.3(METTL25):c.16C>T (p.Pro6Ser)	CCDC59, METTL25 (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125530	NM_032230.3(METTL25):c.37C>G (p.Leu13Val)	CCDC59, METTL25 (L13V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2209868	NM_032230.3(METTL25):c.95C>G (p.Ser32Cys)	CCDC59, METTL25 (S32C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2266743	NM_032230.3(METTL25):c.125A>G (p.Tyr42Cys)	CCDC59, METTL25 (Y42C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2610163	NM_032230.3(METTL25):c.128C>T (p.Thr43Ile)	CCDC59, METTL25 (T43I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3125526	NM_032230.3(METTL25):c.151G>C (p.Val51Leu)	CCDC59, METTL25 (V51L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2315772	NM_032230.3(METTL25):c.172G>A (p.Val58Met)	CCDC59, METTL25 (V58M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2594131	NM_032230.3(METTL25):c.181G>T (p.Ala61Ser)	CCDC59, METTL25 (A61S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2305863	NM_032230.3(METTL25):c.182C>G (p.Ala61Gly)	CCDC59, METTL25 (A61G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2300515	NM_032230.3(METTL25):c.196G>A (p.Ala66Thr)	CCDC59, METTL25 (A66T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 92017	NM_032230.3(METTL25):c.208G>A (p.Glu70Lys)	CCDC59, METTL25 (E70K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2685054	GRCh37/hg19 12q21.31(chr12:82424439-83222097)x4	CCDC59, METTL25 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527718	GRCh37/hg19 12q21.31(chr12:82315146-83005702)	CCDC59, METTL25	Copy number loss	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 563970	GRCh37/hg19 12q21.31(chr12:81666797-82808748)x3	METTL25, PPFIA2 +1 more	Copy number gain	not provided	GUncertain significance
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 39