"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PFKL"[g - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 726935	NM_002626.6(PFKL):c.86-858C>T	PFKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790894	NM_002626.6(PFKL):c.1863G>A (p.Arg621=)	PFKL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 788320	NM_002626.6(PFKL):c.2150T>C (p.Val717Ala)	PFKL (V767A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716511	NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp)	PFKL (R787W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3248185	NC_000021.8:g.(?_45743649)_(45843615_?)del	CFAP410, PFKL +1 more	Deletion	not provided	GPathogenic
Select item 2422993	NC_000021.8:g.(?_45709520)_(45759077_?)dup	AIRE, CFAP410 +1 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	ADARB1, AGPAT3 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 833483	NC_000021.8:g.(?_45725202)_(46234019_?)dup	CFAP410, KRTAP10-1 +21 more	Duplication	not provided	GUncertain significance
Select item 833361	NC_000021.8:g.(?_45725202)_(46131429_?)dup	CFAP410, KRTAP10-1 +19 more	Duplication	not provided	GUncertain significance
Select item 833347	NC_000021.9:g.(?_44305319)_(44338455_?)dup	CFAP410, PFKL	Duplication	not provided	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	KRTAP10-2, KRTAP10-3 +47 more	Duplication	not provided	GUncertain significance
Select item 830536	NC_000021.8:g.(?_45725202)_(45929269_?)dup	CFAP410, LRRC3 +3 more	Duplication	not provided	GUncertain significance
Select item 528316	NC_000021.8:g.(?_45629566)_(46330717_?)dup	AIRE, CFAP410 +26 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance