"Baylor Genetics"[submitter] AND "PPT1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030730	NM_000310.4(PPT1):c.902T>A (p.Ile301Asn)	PPT1 (I277N +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2678043	NM_000310.4(PPT1):c.885del (p.Glu295fs)	PPT1 (E192fs +2 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 558381	NM_000310.4(PPT1):c.798+2T>C	PPT1	Single nucleotide variant (splice donor variant +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic/Likely pathogenic
Select item 237631	NM_000310.4(PPT1):c.798+1G>T	PPT1	Single nucleotide variant (splice donor variant +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic/Likely pathogenic
Select item 56214	NM_000310.4(PPT1):c.739T>C (p.Tyr247His)	PPT1 (Y144H +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 56213	NM_000310.4(PPT1):c.727-2A>T	PPT1	Single nucleotide variant (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 3240200	NM_000310.4(PPT1):c.726+2T>C	PPT1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 198413	NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	PPT1 (S241L +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 236407	NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	PPT1 (P238L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GPathogenic/Likely pathogenic
Select item 56211	NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	PPT1 (F122S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 56210	NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)	PPT1 (L119P +1 more)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 370947	NM_000310.4(PPT1):c.653dup (p.Asn218fs)	PPT1 (N115fs +1 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic/Likely pathogenic
Select item 2815167	NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)	PPT1 (E213* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GPathogenic/Likely pathogenic
Select item 662960	NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)	PPT1 (I108fs +1 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic/Likely pathogenic
Select item 3240201	NM_000310.4(PPT1):c.628-1G>A	PPT1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56208	NM_000310.4(PPT1):c.628-1G>T	PPT1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2678041	NM_000310.4(PPT1):c.585T>G (p.Tyr195Ter)	PPT1 (Y195* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678042	NM_000310.4(PPT1):c.561_562del (p.His187fs)	PPT1 (H187fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56204	NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	PPT1 (E184K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1072746	NM_000310.4(PPT1):c.541G>C (p.Val181Leu)	PPT1 (V181L +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 188857	NM_000310.4(PPT1):c.541G>A (p.Val181Met)	PPT1 (V181M +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 56202	NM_000310.4(PPT1):c.541G>T (p.Val181Leu)	PPT1 (V181L +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 2202734	NM_000310.4(PPT1):c.533A>T (p.Glu178Val)	PPT1 (E178V +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56198	NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)	PPT1 (Q177E +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic
Select item 56197	NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)	PPT1 (R164* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 280344	NM_000310.4(PPT1):c.455del (p.Cys152fs)	PPT1 (C152fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic
Select item 8904	NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	PPT1 (R151* +1 more)	Single nucleotide variant (nonsense)	PPT1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 206645	NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	PPT1 (Q142*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56194	NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	PPT1 (S138L)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 56192	NM_000310.4(PPT1):c.398del (p.Met133fs)	PPT1 (M133fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2678045	NM_000310.4(PPT1):c.367del (p.Ala123fs)	PPT1 (A123fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 8899	NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	PPT1 (R122W)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +2 more	GPathogenic
Select item 206643	NM_000310.4(PPT1):c.362+5G>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 371602	NM_000310.4(PPT1):c.362+1G>A	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 520610	NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)	PPT1 (G118D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 56190	NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)	PPT1 (Y109D)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic
Select item 2678040	NM_000310.4(PPT1):c.286_289dup (p.Gln97fs)	PPT1 (Q97fs)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56185	NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)	PPT1 (F85del)	Microsatellite (inframe_deletion +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GLikely pathogenic
Select item 2678039	NM_000310.4(PPT1):c.234+2T>C	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 8900	NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	PPT1 (T75P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 56183	NM_000310.4(PPT1):c.175del (p.Glu59fs)	PPT1 (E59fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic
Select item 56182	NM_000310.4(PPT1):c.169dup (p.Met57fs)	PPT1 (M57fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56181	NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)	PPT1 (K55*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 56179	NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)	PPT1 (G42E)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 56176	NM_000310.4(PPT1):c.124+1G>A	LOC129930245, PPT1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 56144	NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)	PPT1 (W38C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678044	NM_000310.4(PPT1):c.50G>A (p.Trp17Ter)	PPT1 (W17*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1455107	NM_000310.4(PPT1):c.29_41del (p.Leu10fs)	PPT1 (L10fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic/Likely pathogenic
Select item 8903	NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)	PPT1 (L10*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic

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Items: 49