Related gene-specific medical variations for Gene (Select 2710) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362133	NM_001205019.2(GK):c.1438C>T (p.Leu480Phe)	GK (L474F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3238767	NM_001205019.2(GK):c.443dup (p.Tyr148Ter)	GK (Y148* +1 more)	Duplication (nonsense +1 more)	Inborn glycerol kinase deficiency	GLikely pathogenic
Select item 2689131	NM_001205019.2(GK):c.683A>C (p.Glu228Ala)	GK (E228A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn glycerol kinase deficiency	GUncertain significance
Select item 2673221	NM_001205019.2(GK):c.898G>A (p.Val300Ile)	GK, GK-AS1 (V294I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2622035	NM_001205019.2(GK):c.844A>G (p.Lys282Glu)	GK, GK-AS1 (K282E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442213	NM_001205019.2(GK):c.749A>G (p.Lys250Arg)	GK, GK-AS1 (K244R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn glycerol kinase deficiency	GUncertain significance
Select item 1679737	NM_001205019.2(GK):c.197A>C (p.Glu66Ala)	GK (E66A)	Single nucleotide variant (missense variant)	Inborn glycerol kinase deficiency	GUncertain significance
Select item 1287528	NM_001205019.2(GK):c.784-78_784-75dup	GK, GK-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1284077	NM_001205019.2(GK):c.894+79C>T	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1281823	NM_001205019.2(GK):c.894+208C>T	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1240842	NM_001205019.2(GK):c.784-79_784-78insTAAA	GK, GK-AS1	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1224923	NM_001205019.2(GK):c.748-22T>C	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205628	NM_001205019.2(GK):c.851+1G>A	GK, GK-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 590211	NM_001205019.2(GK):c.748-5A>T	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	History of neurodevelopmental disorder +1 more	GBenign/Likely benign
Select item 426447	NM_001205019.2(GK):c.907_908insC (p.Asp303fs)	GK, GK-AS1 (D303fs +1 more)	Insertion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 10948	NM_001205019.2(GK):c.880A>G (p.Asn294Asp)	GK, GK-AS1 (N288D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn glycerol kinase deficiency	GPathogenic
Select item 10947	NM_001128127.3(GK):c.338-52_338-51insAluY	GK	Insertion	Inborn glycerol kinase deficiency	GPathogenic