25005[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3264233	NM_014167.5(CCDC59):c.337C>G (p.His113Asp)	CCDC59 (H113D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264234	NM_014167.5(CCDC59):c.325A>G (p.Arg109Gly)	CCDC59 (R109G)	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)	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41