Related gene-specific medical variations for Gene (Select 5538) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247751	NC_000001.10:g.(?_40542494)_(40546179_?)del	PPT1	Deletion	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 3247750	NC_000001.10:g.(?_40542494)_(40542605_?)del	PPT1	Deletion	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 3247749	NC_000001.10:g.(?_40546049)_(40546179_?)del	PPT1	Deletion	Neuronal ceroid lipofuscinosis 1	GPathogenic
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 3240200	NM_000310.4(PPT1):c.726+2T>C	PPT1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2971544	NM_000310.4(PPT1):c.124+14A>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2917302	NM_000310.4(PPT1):c.124+9G>C	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2904694	NM_000310.4(PPT1):c.124+15A>T	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2781897	NM_000310.4(PPT1):c.124+20A>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2732619	NM_000310.4(PPT1):c.124+19T>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
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 2678044	NM_000310.4(PPT1):c.50G>A (p.Trp17Ter)	PPT1 (W17*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
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 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 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 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 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 2099550	NM_000310.4(PPT1):c.124+7G>A	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2084102	NM_000310.4(PPT1):c.124+13G>A	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2065415	NM_000310.4(PPT1):c.124+8A>C	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 1649292	NM_000310.4(PPT1):c.124+7G>T	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 1070722	NC_000001.10:g.(?_40557947)_40561572del	PPT1	Deletion	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 987199	NM_000310.4(PPT1):c.346del (p.Gln116fs)	PPT1 (Q116fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 952513	NM_000310.4(PPT1):c.124G>A (p.Gly42Arg)	LOC129930245, PPT1 (G42R +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 465411	NM_000310.4(PPT1):c.124+6T>C	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 416010	NM_000310.4(PPT1):c.124+2TGAG[2]	LOC129930245, PPT1	Microsatellite (splice donor variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 371560	NM_000310.4(PPT1):c.124+2T>A	LOC129930245, PPT1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 138801	NM_000310.4(PPT1):c.124+18T>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 56220	NM_000310.4(PPT1):c.914T>C (p.Leu305Pro)	PPT1 (L202P +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56218	NM_000310.4(PPT1):c.886T>C (p.Trp296Arg)	PPT1 (W193R +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56216	NM_000310.4(PPT1):c.774dup (p.Gln259fs)	PPT1 (Q259fs +1 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56215	NM_000310.4(PPT1):c.749G>T (p.Gly250Val)	PPT1 (G147V +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56212	NM_000310.4(PPT1):c.683T>G (p.Val228Gly)	PPT1 (V125G +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56209	NM_000310.4(PPT1):c.644del (p.Tyr215fs)	PPT1 (Y112fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56207	NM_000310.4(PPT1):c.566C>G (p.Pro189Arg)	PPT1 (P189R +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56206	NM_000310.4(PPT1):c.560A>G (p.His187Arg)	PPT1 (H187R +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56205	NM_000310.4(PPT1):c.558G>A (p.Trp186Ter)	PPT1 (W186* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56203	NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)	PPT1 (Q182* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56201	NM_000310.4(PPT1):c.538dup (p.Leu180fs)	PPT1 (L77fs +1 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56200	NM_000310.4(PPT1):c.536+2T>C	PPT1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56196	NM_000310.4(PPT1):c.456C>A (p.Cys152Ter)	PPT1 (C152* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56195	NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr)	PPT1 (C152Y +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56191	NM_000310.4(PPT1):c.363-3T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56189	NM_000310.4(PPT1):c.310A>T (p.Lys104Ter)	PPT1 (K104*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56186	NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe)	PPT1	Indel (inframe_indel +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56184	NM_000310.4(PPT1):c.235-3T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely 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 56180	NM_000310.4(PPT1):c.135_137dup (p.Cys46dup)	PPT1	Duplication (inframe_insertion +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56178	NM_000310.4(PPT1):c.125-2A>G	PPT1	Single nucleotide variant (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
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 56175	NM_000310.4(PPT1):c.117T>A (p.His39Gln)	PPT1 (H39Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
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 56143	NM_000310.4(PPT1):c.114G>A (p.Trp38Ter)	PPT1 (W38*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 56142	NM_000310.4(PPT1):c.526_529del	PPT1	Deletion (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic

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Links from Gene

Items: 54