"Counsyl"[submitter] AND "GNPTG"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557376	NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr)	GNPTG, LOC130058158	Deletion (initiator_codon_variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 555097	NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del)	GNPTG, LOC130058158 (A3del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 550565	NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)	GNPTG, LOC130058158 (A3T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 557735	NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)	GNPTG, LOC130058158 (L10*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 551781	NM_032520.5(GNPTG):c.53-2A>G	GNPTG, LOC130058158	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 549903	NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly)	GNPTG, LOC130058158 (A25G)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 68108	NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu)	LOC130058158, GNPTG (A25E)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +2 more	GUncertain significance
Select item 550374	NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp)	GNPTG, LOC130058158 (E31D)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 555853	NM_032520.5(GNPTG):c.110+1G>A	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis +1 more	GLikely pathogenic
Select item 552397	NM_032520.5(GNPTG):c.178+2T>C	GNPTG	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 21713	NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)	GNPTG (R66*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis +1 more	GPathogenic
Select item 557240	NM_032520.5(GNPTG):c.233+1G>T	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 558369	NM_032520.5(GNPTG):c.233+2T>C	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 555991	NM_032520.5(GNPTG):c.233+2T>A	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 555879	NM_032520.5(GNPTG):c.234-1G>A	GNPTG	Single nucleotide variant (splice acceptor variant)	GNPTG-mucolipidosis +1 more	GPathogenic/Likely pathogenic
Select item 554142	NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)	GNPTG	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 453175	NM_032520.5(GNPTG):c.318-1G>A	GNPTG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 554488	NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)	GNPTG (E110*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 551401	NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys)	GNPTG (R130C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 554098	NM_032520.5(GNPTG):c.412-1G>C	GNPTG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 437454	NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)	GNPTG (L167fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 552707	NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del)	GNPTG	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 550486	NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln)	GNPTG (R186Q)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 555752	NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln)	GNPTG (E192Q)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 553164	NM_032520.5(GNPTG):c.607dup (p.Gln203fs)	GNPTG (Q203fs)	Duplication (frameshift variant)	Rod-cone dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 550057	NM_032520.5(GNPTG):c.609+1G>C	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 551673	NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del)	GNPTG	Deletion (inframe_deletion)	GNPTG-mucolipidosis	GUncertain significance
Select item 556876	NM_032520.5(GNPTG):c.685del (p.Gln229fs)	GNPTG (Q229fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 553814	NM_032520.5(GNPTG):c.742-1G>A	GNPTG	Single nucleotide variant (splice acceptor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 552977	NM_032520.5(GNPTG):c.742-1G>T	GNPTG	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553120	NM_032520.5(GNPTG):c.750dup (p.Glu251fs)	GNPTG (E251fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 557574	NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)	GNPTG (E251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553608	NM_032520.5(GNPTG):c.814_816del (p.Arg272del)	GNPTG (R272del)	Deletion (inframe_deletion)	GNPTG-mucolipidosis	GUncertain significance
Select item 558624	NM_032520.5(GNPTG):c.823+1G>T	GNPTG	Single nucleotide variant (splice donor variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 556819	NM_032520.5(GNPTG):c.824-39_824-13del	GNPTG	Deletion (intron variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 550656	NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup)	GNPTG	Duplication (inframe_insertion)	GNPTG-mucolipidosis	GUncertain significance
Select item 558068	NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter)	GNPTG (L279*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GUncertain significance
Select item 553121	NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter)	GNPTG (E285*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GUncertain significance
Select item 554575	NM_032520.5(GNPTG):c.867_880del (p.Lys290fs)	GNPTG (K290fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 553857	NM_032520.5(GNPTG):c.862_874del (p.Arg288fs)	GNPTG (R288fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 557985	NM_032520.5(GNPTG):c.868_869del (p.Lys290fs)	GNPTG (K290fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 550459	NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter)	GNPTG (K290*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GUncertain significance
Select item 553980	NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro)	GNPTG	Duplication (inframe_insertion)	GNPTG-mucolipidosis +1 more	GUncertain significance
Select item 558269	NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter)	GNPTG (Q294*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 552353	NM_032520.5(GNPTG):c.893_894del (p.Asp298fs)	GNPTG (D298fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GUncertain significance

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Items: 45