ClinVar for MedGen (Select 482583) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238869	NM_005276.4(GPD1):c.116G>A (p.Trp39Ter)	GPD1	Single nucleotide variant (nonsense)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic
Select item 3238867	NM_005276.4(GPD1):c.640T>C (p.Cys214Arg)	GPD1 (C214R +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic
Select item 3238866	NM_005276.4(GPD1):c.806G>A (p.Arg269Gln)	GPD1 (R269Q +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic
Select item 3235062	NM_005276.4(GPD1):c.901G>T (p.Glu301Ter)	GPD1 (E278* +1 more)	Single nucleotide variant (nonsense)	Transient infantile hypertriglyceridemia and hepatosteatosis	GUncertain significance
Select item 2627532	NM_005276.4(GPD1):c.905C>G (p.Thr302Arg)	GPD1 (T279R +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GUncertain significance
Select item 2572391	NM_005276.4(GPD1):c.666C>G (p.Asn222Lys)	GPD1 (N199K +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GUncertain significance
Select item 1687411	NM_005276.4(GPD1):c.219+1G>A	GPD1	Single nucleotide variant (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic
Select item 1438882	NM_005276.4(GPD1):c.1A>G (p.Met1Val)	GPD1 (M1V)	Single nucleotide variant (missense variant +1 more)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GUncertain significance
Select item 1325834	NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)	GPD1 (S110L +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GConflicting classifications of pathogenicity
Select item 1285304	NM_005276.4(GPD1):c.1017C>T (p.Ile339=)	GPD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1184562	NM_005276.4(GPD1):c.219+1_219+3del	GPD1	Microsatellite (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic
Select item 1032309	NM_005276.4(GPD1):c.431T>C (p.Met144Thr)	GPD1 (M121T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030902	NM_005276.4(GPD1):c.34G>A (p.Gly12Arg)	GPD1 (G12R)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GUncertain significance
Select item 1028359	NM_005276.4(GPD1):c.991G>A (p.Glu331Lys)	GPD1 (E308K +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis +1 more	GUncertain significance
Select item 806885	NM_005276.4(GPD1):c.895G>A (p.Gly299Arg)	GPD1 (G276R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 804465	NM_005276.4(GPD1):c.953+1G>A	GPD1	Single nucleotide variant (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic
Select item 702598	NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)	GPD1 (G121R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 157542	NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)	GPD1 (R229P +1 more)	Single nucleotide variant (missense variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic/Likely pathogenic
Select item 29741	NM_005276.4(GPD1):c.361-1G>C	GPD1	Single nucleotide variant (splice acceptor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GPathogenic