ClinVar for Gene (Select 160419) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244278	NC_000012.11:g.(?_88209614)_(88484553_?)del	C12orf50, CEP290 +1 more	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244277	NC_000012.11:g.(?_88209612)_(88484553_?)del	C12orf50, CEP290 +1 more	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
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 2404054	NM_152589.3(C12orf50):c.964C>T (p.Arg322Cys)	C12orf50 (R283C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373722	NM_152589.3(C12orf50):c.898T>C (p.Phe300Leu)	C12orf50 (F261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355871	NM_152589.3(C12orf50):c.1142C>T (p.Thr381Ile)	C12orf50 (T342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205704	NM_152589.3(C12orf50):c.548T>C (p.Leu183Ser)	C12orf50 (L183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527720	GRCh37/hg19 12q21.32(chr12:87592859-88575639)	C12orf29, C12orf50 +2 more	Copy number gain	not specified	GUncertain significance
Select item 833257	NC_000012.12:g.(?_87983103)_(88507137_?)del	C12orf50, CEP290 +3 more	Deletion	Familial aplasia of the vermis +2 more	GPathogenic
Select item 815544	GRCh37/hg19 12q21.32(chr12:87592859-88588159)x3	TMTC3, CEP290 +2 more	Copy number gain	not provided	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 666459	GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1	ATP2B1, C12orf50 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	ATP2B1, C12orf50 +13 more	Copy number loss	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
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic