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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138793	NM_000310.4(PPT1):c.*3C>A	PPT1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 199009	NM_000310.4(PPT1):c.904A>G (p.Ile302Val)	PPT1 (I302V +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1673548	NM_000310.4(PPT1):c.900C>T (p.His300=)	PPT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 533951	NM_000310.4(PPT1):c.875T>C (p.Leu292Ser)	PPT1 (L292S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 130023	NM_000310.4(PPT1):c.837G>C (p.Gln279His)	PPT1 (Q279H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 1400941	NM_000310.4(PPT1):c.824A>T (p.Asp275Val)	PPT1 (D172V +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 588549	NM_000310.4(PPT1):c.803G>A (p.Arg268His)	PPT1 (R268H +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 2285171	NM_000310.4(PPT1):c.802C>A (p.Arg268Ser)	PPT1 (R244S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449662	NM_000310.4(PPT1):c.802C>T (p.Arg268Cys)	PPT1 (R268C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3217971	NM_000310.4(PPT1):c.752A>C (p.Gln251Pro)	PPT1 (Q148P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1753033	NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)	PPT1 (N109S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2616827	NM_000310.4(PPT1):c.629G>T (p.Gly210Val)	PPT1 (G107V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206638	NM_000310.4(PPT1):c.627+4A>G	PPT1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 575957	NM_000310.4(PPT1):c.587G>A (p.Arg196His)	PPT1 (R196H +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 56204	NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	PPT1 (E184K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 516507	NM_000310.4(PPT1):c.543G>A (p.Val181=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1 +2 more	GLikely benign
Select item 188857	NM_000310.4(PPT1):c.541G>A (p.Val181Met)	PPT1 (V181M +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 206647	NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)	PPT1 (R179C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 516506	NM_000310.4(PPT1):c.513G>A (p.Ala171=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GLikely benign
Select item 1742820	NM_000310.4(PPT1):c.474C>A (p.His158Gln)	PPT1 (H158Q +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 8904	NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	PPT1 (R151* +1 more)	Single nucleotide variant (nonsense)	Neuronal Ceroid-Lipofuscinosis, Recessive +5 more	GPathogenic/Likely pathogenic
Select item 197131	NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)	PPT1 (G145R)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +3 more	GUncertain significance
Select item 3217970	NM_000310.4(PPT1):c.428A>T (p.His143Leu)	PPT1 (H143L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 875928	NM_000310.4(PPT1):c.416T>C (p.Val139Ala)	PPT1 (V139A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1026557	NM_000310.4(PPT1):c.404A>G (p.Asn135Ser)	PPT1 (N135S)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 130022	NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)	PPT1 (I134T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 8899	NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	PPT1 (R122W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 130021	NM_000310.4(PPT1):c.363-4G>A	PPT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 380711	NM_000310.4(PPT1):c.363-5C>T	PPT1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 520610	NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)	PPT1 (G118D)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +2 more	GLikely pathogenic
Select item 196249	NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)	PPT1 (N110S)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 206635	NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)	PPT1 (K104E)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 8900	NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	PPT1 (T75P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic
Select item 1783408	NM_000310.4(PPT1):c.195T>A (p.Ile65=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1782254	NM_000310.4(PPT1):c.189T>C (p.Pro63=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 465411	NM_000310.4(PPT1):c.124+6T>C	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 985638	NM_000310.4(PPT1):c.118G>A (p.Gly40Arg)	PPT1 (G40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755510	NM_000310.4(PPT1):c.67G>A (p.Ala23Thr)	PPT1 (A23T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8903	NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)	PPT1 (L10*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1794914	NM_000310.4(PPT1):c.26T>C (p.Leu9Pro)	PPT1 (L9P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482209	NM_000310.4(PPT1):c.17G>T (p.Cys6Phe)	PPT1 (C6F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 533954	NM_000310.4(PPT1):c.17G>A (p.Cys6Tyr)	PPT1 (C6Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588787	NM_000310.4(PPT1):c.14G>C (p.Gly5Ala)	PPT1 (G5A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 56193	NM_000310.4(PPT1):c.3G>A (p.Met1Ile)	PPT1 (M1I)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 44