ClinVar for MedGen (Select 82803) - ClinVar - NCBI

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

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248635	NM_001205019.2(GK):c.542G>A (p.Trp181Ter)	GK (W181* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn glycerol kinase deficiency	GPathogenic
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 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 1685851	NM_001205019.2(GK):c.259+1255G>A	GK	Single nucleotide variant (intron variant)	Inborn glycerol kinase deficiency	GPathogenic
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 1029689	NM_001205019.2(GK):c.106C>T (p.Leu36Phe)	GK (L36F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986037	NM_001205019.2(GK):c.152+1G>C	GK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
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
Select item 10946	NM_001205019.2(GK):c.1525T>C (p.Trp509Arg)	GK (W503R +1 more)	Single nucleotide variant (missense variant)	Inborn glycerol kinase deficiency	GPathogenic
Select item 10945	NM_001205019.2(GK):c.1255C>T (p.Arg419Ter)	GK (R413* +1 more)	Single nucleotide variant (nonsense)	Inborn glycerol kinase deficiency	GPathogenic
Select item 10944	NC_000023.11:g.(30700906_30707555)_(30728743_?)del	GK, GK-AS1	Deletion	Inborn glycerol kinase deficiency	GPathogenic
Select item 10943	NM_001205019.2(GK):c.1337A>T (p.Asp446Val)	GK (D440V +1 more)	Single nucleotide variant (missense variant)	Inborn glycerol kinase deficiency	GPathogenic
Select item 10942	NC_000023.11:g.(30720096_30720620)_(30720742_30720851)del	GK	Deletion	Inborn glycerol kinase deficiency	GPathogenic
Select item 10941	NM_001205019.2(GK):c.553-1G>C	GK	Single nucleotide variant (splice acceptor variant)	Inborn glycerol kinase deficiency	GPathogenic