ClinVar for MedGen (Select 452447) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236393	NM_145262.4(GLYCTK):c.425C>T (p.Ala142Val)	GLYCTK (A142V)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 2432175	NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr)	GLYCTK (A378T)	Single nucleotide variant (3 prime UTR variant +2 more)	D-Glyceric aciduria +1 more	GUncertain significance
Select item 2432173	NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)	GLYCTK (A323T)	Single nucleotide variant (3 prime UTR variant +2 more)	D-Glyceric aciduria	GUncertain significance
Select item 1878259	NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)	GLYCTK (R13*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1696022	NM_145262.4(GLYCTK):c.1057del (p.His353fs)	GLYCTK (H353fs)	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031661	NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser)	GLYCTK (P184S)	Single nucleotide variant (missense variant +2 more)	D-Glyceric aciduria	GUncertain significance
Select item 1031660	NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu)	GLYCTK (Q346E)	Single nucleotide variant (3 prime UTR variant +2 more)	D-Glyceric aciduria	GUncertain significance
Select item 1031195	NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu)	GLYCTK (C205* +1 more)	Single nucleotide variant (nonsense +2 more)	D-Glyceric aciduria +1 more	GUncertain significance
Select item 973445	NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser)	GLYCTK (G102S)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 930336	NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr)	GLYCTK (A38T)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 930335	NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu)	GLYCTK (P438L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 788485	NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile)	GLYCTK (M128I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522994	NM_145262.4(GLYCTK):c.60_62del (p.Trp21del)	GLYCTK (W21del)	Deletion (inframe_deletion +1 more)	D-Glyceric aciduria	GUncertain significance
Select item 522974	NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp)	GLYCTK (R153W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 252787	NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser)	GLYCTK (N487S)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria +2 more	GUncertain significance
Select item 92242	NM_145262.4(GLYCTK):c.1558del (p.Leu520fs)	GLYCTK (L520fs)	Deletion (frameshift variant +1 more)	D-Glyceric aciduria	GPathogenic
Select item 92241	NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)	GLYCTK (F483fs)	Deletion (3 prime UTR variant +2 more)	D-Glyceric aciduria	GPathogenic
Select item 30836	NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)	GLYCTK (F493C)	Single nucleotide variant (missense variant +1 more)	D-Glyceric aciduria +1 more	GConflicting classifications of pathogenicity