ClinVar for MedGen (Select 392873) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3597257	NM_002778.4(PSAP):c.568C>T (p.Gln190Ter)	PSAP (Q190*)	Single nucleotide variant (nonsense)	Combined PSAP deficiency +4 more	GLikely pathogenic
Select item 3597242	NM_002778.4(PSAP):c.1005+1G>T	PSAP	Single nucleotide variant (splice donor variant)	Combined PSAP deficiency +4 more	GLikely pathogenic
Select item 3597241	NM_002778.4(PSAP):c.1006-1G>A	PSAP	Single nucleotide variant (splice acceptor variant)	Combined PSAP deficiency +4 more	GLikely pathogenic
Select item 3597238	NM_002778.4(PSAP):c.1006-2_1017delinsT	PSAP	Indel (splice acceptor variant)	Combined PSAP deficiency +4 more	GLikely pathogenic
Select item 3597229	NM_002778.4(PSAP):c.1350+5G>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +4 more	GUncertain significance
Select item 3597220	NM_002778.4(PSAP):c.1351-1G>T	PSAP	Single nucleotide variant (splice acceptor variant)	Combined PSAP deficiency +4 more	GLikely pathogenic
Select item 2735420	NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)	PSAP (Q50*)	Single nucleotide variant (nonsense)	Gaucher disease due to saposin C deficiency +4 more	GPathogenic
Select item 1479808	NM_002778.4(PSAP):c.695G>A (p.Arg232His)	PSAP (R232H)	Single nucleotide variant (missense variant)	Parkinson disease 24, autosomal dominant, susceptibility to +4 more	GUncertain significance
Select item 1330309	NM_002778.4(PSAP):c.1005+1G>A	PSAP	Single nucleotide variant (splice donor variant)	Sphingolipid activator protein 1 deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1300259	NM_002778.4(PSAP):c.209T>G (p.Val70Gly)	PSAP	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency	GPathogenic
Select item 1180584	NM_002778.4(PSAP):c.1431+116C>T	PSAP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1180557	NM_001042465.2(PSAP):c.-130T>C	PSAP	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 991964	NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)	PSAP (V398I +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +4 more	GUncertain significance
Select item 989890	NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)	PSAP (K23E)	Single nucleotide variant (missense variant)	Parkinson disease 24, autosomal dominant, susceptibility to +4 more	GUncertain significance
Select item 989886	NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)	PSAP (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 968905	NM_002778.4(PSAP):c.721-1G>A	PSAP	Single nucleotide variant (splice acceptor variant)	Sphingolipid activator protein 1 deficiency +1 more	GLikely pathogenic
Select item 880453	NM_002778.4(PSAP):c.*596A>G	PSAP	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 879866	NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)	PSAP (S140F)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 879500	NM_002778.4(PSAP):c.423C>T (p.Leu141=)	PSAP	Single nucleotide variant (synonymous variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 879499	NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)	PSAP (P170A)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 879388	NM_002778.4(PSAP):c.1197C>T (p.His399=)	PSAP	Single nucleotide variant (synonymous variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 879308	NM_002778.4(PSAP):c.*238G>C	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 12 +5 more	GUncertain significance
Select item 879264	NM_002778.4(PSAP):c.*737G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 878804	NM_002778.4(PSAP):c.1329G>T (p.Leu443=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 878721	NM_002778.4(PSAP):c.*346C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Krabbe disease due to saposin A deficiency +3 more	GUncertain significance
Select item 878665	NM_002778.4(PSAP):c.*787C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 878088	NM_002778.4(PSAP):c.249+6C>T	PSAP	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 878037	NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)	PSAP (P189S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 877730	NM_002778.4(PSAP):c.*90C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 877693	NM_002778.4(PSAP):c.*376A>G	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 877692	NM_002778.4(PSAP):c.*526G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 877646	NM_002778.4(PSAP):c.*1008C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 857581	NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)	PSAP (N215K)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +4 more	GPathogenic/Likely pathogenic
Select item 765408	NM_002778.4(PSAP):c.1146C>T (p.Cys382=)	PSAP	Single nucleotide variant (synonymous variant)	Gaucher disease due to saposin C deficiency +3 more	GConflicting classifications of pathogenicity
Select item 748866	NM_002778.4(PSAP):c.1281C>T (p.Ser427=)	PSAP	Single nucleotide variant (synonymous variant)	Combined PSAP deficiency +2 more	GBenign/Likely benign
Select item 562226	NM_002778.4(PSAP):c.679_681del (p.Lys227del)	PSAP (K227del)	Deletion (inframe_deletion)	PSAP-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 559099	NM_002778.4(PSAP):c.1432-22C>T	PSAP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 521912	NM_002778.4(PSAP):c.257T>A (p.Ile86Asn)	PSAP (I86N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 438801	NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)	PSAP (E460* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 300541	NM_002778.4(PSAP):c.-29C>T	PSAP	Single nucleotide variant (5 prime UTR variant)	Krabbe disease due to saposin A deficiency +3 more	GLikely benign
Select item 300540	NM_002778.4(PSAP):c.-22G>C	PSAP	Single nucleotide variant (5 prime UTR variant)	Krabbe disease due to saposin A deficiency +3 more	GUncertain significance
Select item 300539	NM_002778.4(PSAP):c.40+12G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300538	NM_002778.4(PSAP):c.41-13G>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300537	NM_002778.4(PSAP):c.78C>T (p.Thr26=)	PSAP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 300536	NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	PSAP (A30S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 300535	NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)	PSAP (W32G)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +4 more	GUncertain significance
Select item 300534	NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)	PSAP (T38S)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300532	NM_002778.4(PSAP):c.174+9C>T	PSAP	Single nucleotide variant (intron variant)	Gaucher disease due to saposin C deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300531	NM_002778.4(PSAP):c.189C>T (p.Cys63=)	PSAP	Single nucleotide variant (synonymous variant)	Gaucher disease due to saposin C deficiency +4 more	GConflicting classifications of pathogenicity
Select item 300530	NM_002778.4(PSAP):c.204C>T (p.Asp68=)	PSAP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 300529	NM_002778.4(PSAP):c.227T>A (p.Met76Lys)	PSAP (M76K)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300528	NM_002778.4(PSAP):c.250-12G>A	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300527	NM_002778.4(PSAP):c.336C>T (p.Ser112=)	PSAP	Single nucleotide variant (synonymous variant)	Combined PSAP deficiency +3 more	GBenign/Likely benign
Select item 300526	NM_002778.4(PSAP):c.380G>A (p.Arg127His)	PSAP (R127H)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +4 more	GUncertain significance
Select item 300525	NM_002778.4(PSAP):c.557G>A (p.Arg186His)	PSAP (R186H)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300524	NM_002778.4(PSAP):c.570G>T (p.Gln190His)	PSAP (Q190H)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +5 more	GBenign/Likely benign
Select item 300523	NM_002778.4(PSAP):c.577-10T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300522	NM_002778.4(PSAP):c.714C>G (p.Ala238=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 300521	NM_002778.4(PSAP):c.798G>A (p.Ala266=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300520	NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)	PSAP (K307R +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300519	NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)	PSAP (P308L +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300518	NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)	PSAP (T334S +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300517	NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)	PSAP (I341V +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300516	NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	PSAP	Single nucleotide variant (synonymous variant)	Gaucher disease due to saposin C deficiency +6 more	GConflicting classifications of pathogenicity
Select item 300515	NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)	PSAP (T363M +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300514	NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	PSAP (T394M +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +5 more	GConflicting classifications of pathogenicity
Select item 300512	NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)	PSAP (R421C +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300511	NM_002778.4(PSAP):c.1278C>T (p.Asn426=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 300510	NM_002778.4(PSAP):c.1432-4A>G	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300509	NM_002778.4(PSAP):c.1452G>A (p.Ser484=)	PSAP	Single nucleotide variant (synonymous variant)	Combined PSAP deficiency +4 more	GBenign
Select item 300508	NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)	PSAP (H486Y +2 more)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +4 more	GConflicting classifications of pathogenicity
Select item 300507	NM_002778.4(PSAP):c.1476T>C (p.Thr492=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300506	NM_002778.4(PSAP):c.*9A>G	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300505	NM_002778.4(PSAP):c.*73C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300504	NM_002778.4(PSAP):c.*113C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300503	NM_002778.4(PSAP):c.*122C>G	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +4 more	GConflicting classifications of pathogenicity
Select item 300502	NM_002778.4(PSAP):c.*276G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300501	NM_002778.4(PSAP):c.*574G>C	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300500	NM_002778.4(PSAP):c.*775G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 300499	NM_002778.4(PSAP):c.*859C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +3 more	GUncertain significance
Select item 300498	NM_002778.4(PSAP):c.*891G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +6 more	GBenign/Likely benign
Select item 300497	NM_002778.4(PSAP):c.*935A>G	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300492	NM_022124.6(CDH23):c.*434G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +7 more	GConflicting classifications of pathogenicity
Select item 300491	NM_022124.6(CDH23):c.*430A>T	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	CDH23-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 258812	NM_002778.4(PSAP):c.909+32G>T	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 258811	NM_002778.4(PSAP):c.1540-34C>T	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 258810	NM_002778.4(PSAP):c.1380C>T (p.Pro460=)	PSAP	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 258809	NM_002778.4(PSAP):c.1350+5G>A	CDH23, PSAP	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +10 more	GBenign/Likely benign
Select item 258808	NM_002778.4(PSAP):c.1193-26G>A	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 258806	NM_002778.4(PSAP):c.-4C>T	PSAP	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign
Select item 258805	NM_002778.4(PSAP):c.-28A>C	PSAP	Single nucleotide variant (5 prime UTR variant)	Krabbe disease due to saposin A deficiency +4 more	GConflicting classifications of pathogenicity
Select item 258804	NM_002778.4(PSAP):c.-10A>G	PSAP	Single nucleotide variant (5 prime UTR variant)	Krabbe disease due to saposin A deficiency +5 more	GBenign
Select item 94085	NM_002778.4(PSAP):c.1351-14A>G	CDH23, PSAP	Single nucleotide variant (intron variant)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 94084	NM_002778.4(PSAP):c.1005+18C>T	PSAP	Single nucleotide variant (intron variant)	Krabbe disease due to saposin A deficiency +4 more	GBenign
Select item 13375	NM_002778.4(PSAP):c.828_829del (p.Glu276fs)	PSAP (E276fs +2 more)	Microsatellite (frameshift variant)	Sphingolipid activator protein 1 deficiency +5 more	GPathogenic/Likely pathogenic
Select item 13369	NM_002778.4(PSAP):c.207_209del (p.Val70del)	PSAP (V70del)	Deletion (inframe_deletion)	Sphingolipid activator protein 1 deficiency	GUncertain significance
Select item 13361	NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)	PSAP (T217I)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +6 more	GPathogenic/Likely pathogenic

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Items: 97