"GNPTG-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989917	NM_032520.5(GNPTG):c.-10C>A	GNPTG, LOC130058158	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 550565	NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)	GNPTG, LOC130058158 (A3T)	Single nucleotide variant (missense variant)	GNPTG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 317804	NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)	GNPTG, LOC130058158 (G23R)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +2 more	GConflicting classifications of pathogenicity
Select item 758903	NM_032520.5(GNPTG):c.183C>T (p.Pro61=)	GNPTG	Single nucleotide variant (synonymous variant)	GNPTG-related disorder +1 more	GLikely benign
Select item 762569	NM_032520.5(GNPTG):c.233+9A>T	GNPTG	Single nucleotide variant (intron variant)	GNPTG-related disorder +1 more	GLikely benign
Select item 317881	NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	GNPTG	Single nucleotide variant (synonymous variant)	GNPTG-mucolipidosis +2 more	GConflicting classifications of pathogenicity
Select item 765298	NM_032520.5(GNPTG):c.339C>T (p.Ile113=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 712909	NM_032520.5(GNPTG):c.450T>G (p.His150Gln)	GNPTG (H150Q)	Single nucleotide variant (missense variant)	GNPTG-related disorder +1 more	GBenign
Select item 317885	NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)	GNPTG (V168I)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +2 more	GLikely benign
Select item 728433	NM_032520.5(GNPTG):c.603C>T (p.Thr201=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3050424	NM_032520.5(GNPTG):c.610-28G>C	GNPTG	Single nucleotide variant (intron variant)	GNPTG-related disorder	GLikely benign
Select item 758904	NM_032520.5(GNPTG):c.684C>G (p.Thr228=)	GNPTG	Single nucleotide variant (synonymous variant)	GNPTG-related disorder +1 more	GLikely benign
Select item 718947	NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly)	GNPTG (R272G)	Single nucleotide variant (missense variant)	GNPTG-related disorder +1 more	GLikely benign
Select item 747120	NM_032520.5(GNPTG):c.903G>A (p.Leu301=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign