"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GAK"[ge - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720787	NM_005255.4(GAK):c.3899C>T (p.Ser1300Leu)	GAK (S1221L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778842	NM_005255.4(GAK):c.3891C>T (p.Asp1297=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787170	NM_005255.4(GAK):c.3861C>T (p.His1287=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720325	NM_005255.4(GAK):c.3653T>G (p.Leu1218Arg)	GAK (L1139R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713301	NM_005255.4(GAK):c.3416C>G (p.Pro1139Arg)	GAK (P1060R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 740244	NM_005255.4(GAK):c.3309G>T (p.Gly1103=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779417	NM_005255.4(GAK):c.3060G>A (p.Glu1020=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 754209	NM_005255.4(GAK):c.2535C>T (p.Ala845=)	GAK, LOC126806940	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778843	NM_005255.4(GAK):c.2446G>A (p.Glu816Lys)	GAK, LOC126806940 (E737K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708890	NM_005255.4(GAK):c.2158C>T (p.Pro720Ser)	GAK (P641S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778134	NM_005255.4(GAK):c.1758G>A (p.Pro586=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727255	NM_005255.4(GAK):c.1515C>T (p.Val505=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3246746	NC_000004.11:g.(?_818260)_(1020391_?)del	GAK, IDUA +5 more	Deletion	not provided	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2423740	NC_000004.11:g.(?_520808)_(1020391_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	DOK7, FAM193A +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1070482	NC_000004.11:g.(?_493125)_(998181_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic