ClinVar for MedGen (Select 382151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692411	NM_002778.4(PSAP):c.353T>C (p.Leu118Pro)	PSAP (L118P)	Single nucleotide variant (missense variant)	Combined PSAP deficiency	GUncertain significance
Select item 2687743	NM_002778.4(PSAP):c.1341C>A (p.Tyr447Ter)	CDH23, PSAP (Y447* +2 more)	Single nucleotide variant (nonsense)	Combined PSAP deficiency	GLikely pathogenic
Select item 2582396	NM_002778.4(PSAP):c.1192+1G>A	PSAP	Single nucleotide variant (splice donor variant)	Combined PSAP deficiency	GPathogenic
Select item 1479808	NM_002778.4(PSAP):c.695G>A (p.Arg232His)	PSAP (R232H)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +4 more	GUncertain significance
Select item 1424237	NM_002778.4(PSAP):c.875T>G (p.Val292Gly)	PSAP (V295G +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +2 more	GUncertain significance
Select item 1413486	NM_002778.4(PSAP):c.1049C>T (p.Pro350Leu)	PSAP (P353L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1184599	NM_002778.4(PSAP):c.698T>G (p.Leu233Arg)	PSAP (L233R)	Single nucleotide variant (missense variant)	Combined PSAP deficiency	GLikely pathogenic
Select item 1184598	NM_002778.4(PSAP):c.1006-8_1021del	PSAP	Deletion (splice acceptor variant)	Combined PSAP deficiency	GLikely pathogenic
Select item 1180584	NM_002778.4(PSAP):c.1431+116C>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +3 more	GBenign
Select item 1180557	NM_001042465.2(PSAP):c.-130T>C	PSAP	Single nucleotide variant	Sphingolipid activator protein 1 deficiency +3 more	GBenign/Likely benign
Select item 1032847	NM_002778.4(PSAP):c.11T>C (p.Leu4Pro)	PSAP (L4P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032846	NM_002778.4(PSAP):c.113C>T (p.Thr38Met)	PSAP (T38M)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +1 more	GUncertain significance
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)	Gaucher disease due to saposin C deficiency +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 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)	Gaucher disease due to saposin C deficiency +3 more	GUncertain significance
Select item 879500	NM_002778.4(PSAP):c.423C>T (p.Leu141=)	PSAP	Single nucleotide variant (synonymous variant)	Gaucher disease due to saposin C 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)	Krabbe disease due to saposin A deficiency +3 more	GConflicting classifications of pathogenicity
Select item 879308	NM_002778.4(PSAP):c.*238G>C	PSAP, CDH23	Single nucleotide variant (3 prime UTR variant)	Sphingolipid activator protein 1 deficiency +5 more	GUncertain significance
Select item 879264	NM_002778.4(PSAP):c.*737G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP 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)	Sphingolipid activator protein 1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 878037	NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)	PSAP (P189S)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +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)	Gaucher disease due to saposin C deficiency +3 more	GUncertain significance
Select item 877646	NM_002778.4(PSAP):c.*1008C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Gaucher disease due to saposin C deficiency +3 more	GUncertain significance
Select item 806507	NM_002778.4(PSAP):c.28C>T (p.Leu10Phe)	PSAP (L10F)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +2 more	GUncertain significance
Select item 765408	NM_002778.4(PSAP):c.1146C>T (p.Cys382=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 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)	Sphingolipid activator protein 1 deficiency +2 more	GBenign/Likely benign
Select item 562226	NM_002778.4(PSAP):c.679_681del (p.Lys227del)	PSAP (K227del)	Deletion (inframe_deletion)	Metachromatic leukodystrophy +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 438801	NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)	PSAP (E460* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease due to saposin C deficiency +3 more	GPathogenic
Select item 418428	NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	PSAP (L137V)	Single nucleotide variant (missense variant)	PSAP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 368924	NM_001042465.2(PSAP):c.-118G>A	PSAP	Single nucleotide variant	Atypical Gaucher Disease +3 more	GLikely benign
Select item 368919	NM_022124.6(CDH23):c.*478G>C	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Atypical Gaucher Disease +5 more	GConflicting classifications of pathogenicity
Select item 368918	NM_022124.6(CDH23):c.*439C>T	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Atypical Gaucher Disease +5 more	GConflicting classifications of pathogenicity
Select item 368910	NM_022124.6(CDH23):c.*80G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Atypical Gaucher Disease +5 more	GConflicting classifications of pathogenicity
Select item 368908	NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)	CDH23, PSAP (R3328H +4 more)	Single nucleotide variant (missense variant)	Atypical Gaucher Disease +7 more	GConflicting classifications of pathogenicity
Select item 300547	NM_002778.3(PSAP):c.-99T>G	PSAP	Single nucleotide variant	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300546	NM_002778.3(PSAP):c.-65C>T	PSAP	Single nucleotide variant	Combined PSAP deficiency +4 more	GBenign/Likely benign
Select item 300545	NM_002778.3(PSAP):c.-62A>G	PSAP	Single nucleotide variant	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300544	NM_002778.3(PSAP):c.-56A>G	PSAP	Single nucleotide variant	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300543	NM_002778.3(PSAP):c.-50G>T	PSAP	Single nucleotide variant	Combined PSAP deficiency +3 more	GUncertain significance
Select item 300542	NM_002778.3(PSAP):c.-33T>C	PSAP	Single nucleotide variant	Combined PSAP deficiency +3 more	GLikely benign
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)	Gaucher disease due to saposin C deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300538	NM_002778.4(PSAP):c.41-13G>C	PSAP	Single nucleotide variant (intron variant)	Combined PSAP 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)	Krabbe disease due to saposin A deficiency +3 more	GBenign
Select item 300536	NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	PSAP (A30S)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +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 +3 more	GUncertain significance
Select item 300534	NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)	PSAP (T38S)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300533	NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)	PSAP (P56R)	Single nucleotide variant (missense variant)	Atypical Gaucher Disease +4 more	GConflicting classifications of pathogenicity
Select item 300532	NM_002778.4(PSAP):c.174+9C>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 300530	NM_002778.4(PSAP):c.204C>T (p.Asp68=)	PSAP	Single nucleotide variant (synonymous variant)	PSAP-related condition +5 more	GBenign/Likely benign
Select item 300529	NM_002778.4(PSAP):c.227T>A (p.Met76Lys)	PSAP (M76K)	Single nucleotide variant (missense variant)	Combined PSAP deficiency +3 more	GConflicting classifications of pathogenicity
Select item 300528	NM_002778.4(PSAP):c.250-12G>A	PSAP	Single nucleotide variant (intron variant)	Krabbe disease due to saposin A 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)	Krabbe disease due to saposin A 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)	Krabbe disease due to saposin A deficiency +3 more	GUncertain significance
Select item 300525	NM_002778.4(PSAP):c.557G>A (p.Arg186His)	PSAP (R186H)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A 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)	Krabbe disease due to saposin A deficiency +5 more	GBenign/Likely benign
Select item 300523	NM_002778.4(PSAP):c.577-10T>C	PSAP	Single nucleotide variant (intron variant)	Combined PSAP 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 300521	NM_002778.4(PSAP):c.798G>A (p.Ala266=)	PSAP	Single nucleotide variant (synonymous variant)	Gaucher disease due to saposin C 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)	Krabbe disease due to saposin A 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)	Krabbe disease due to saposin A 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)	Combined PSAP 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)	Krabbe disease due to saposin A 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)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 300513	NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)	PSAP (D423N +2 more)	Single nucleotide variant (missense variant)	Atypical Gaucher Disease +3 more	GUncertain significance
Select item 300512	NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)	PSAP (R421C +2 more)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A 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)	Combined PSAP deficiency +4 more	GConflicting classifications of pathogenicity
Select item 300510	NM_002778.4(PSAP):c.1432-4A>G	PSAP	Single nucleotide variant (intron variant)	Krabbe disease due to saposin A 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)	not provided +4 more	GBenign
Select item 300508	NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)	PSAP (H486Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 300507	NM_002778.4(PSAP):c.1476T>C (p.Thr492=)	PSAP	Single nucleotide variant (synonymous variant)	Gaucher disease due to saposin C 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)	Krabbe disease due to saposin A 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)	Krabbe disease due to saposin A deficiency +3 more	GUncertain significance
Select item 300504	NM_002778.4(PSAP):c.*113C>T	PSAP	Single nucleotide variant (3 prime UTR variant)	Gaucher disease due to saposin C deficiency +3 more	GUncertain significance
Select item 300503	NM_002778.4(PSAP):c.*122C>G	PSAP	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 300502	NM_002778.4(PSAP):c.*276G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	Krabbe disease due to saposin A deficiency +3 more	GUncertain significance
Select item 300501	NM_002778.4(PSAP):c.*574G>C	PSAP	Single nucleotide variant (3 prime UTR variant)	Krabbe disease due to saposin A 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)	Krabbe disease due to saposin A deficiency +3 more	GUncertain significance
Select item 300498	NM_002778.4(PSAP):c.*891G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +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 300495	NM_022124.6(CDH23):c.*588del	CDH23, PSAP	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 300494	NM_022124.6(CDH23):c.*515C>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Atypical Gaucher Disease +7 more	GConflicting classifications of pathogenicity
Select item 300493	NM_022124.6(CDH23):c.*510G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Atypical Gaucher Disease +8 more	GBenign/Likely benign
Select item 300492	NM_022124.6(CDH23):c.*434G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +8 more	GConflicting classifications of pathogenicity
Select item 300491	NM_022124.6(CDH23):c.*430A>T	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +9 more	GConflicting classifications of pathogenicity
Select item 300490	NM_022124.6(CDH23):c.*361C>A	PSAP, CDH23	Single nucleotide variant (3 prime UTR variant)	Atypical Gaucher Disease +8 more	GConflicting classifications of pathogenicity

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