"GeneDx"[submitter] AND "PSAP"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 46071	NM_022124.6(CDH23):c.9319+11G>A	CDH23, PSAP	Single nucleotide variant (intron variant)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 46072	NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)	CDH23, PSAP (F3125L +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 46074	NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	Atypical Gaucher Disease +7 more	GConflicting classifications of pathogenicity
Select item 133306	NM_022124.6(CDH23):c.9510+19_9510+25del	CDH23, PSAP	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency +6 more	GConflicting classifications of pathogenicity
Select item 178315	NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	PSAP, CDH23 (I3210T +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 300475	NM_022124.6(CDH23):c.9739-12G>A	CDH23, PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +9 more	GConflicting classifications of pathogenicity
Select item 46079	NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)	CDH23, PSAP (D3253A +4 more)	Single nucleotide variant (missense variant)	Atypical Gaucher Disease +7 more	GBenign/Likely benign
Select item 300477	NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)	CDH23, PSAP (G3287D +4 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 46080	NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 46081	NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	Atypical Gaucher Disease +7 more	GConflicting classifications of pathogenicity
Select item 300478	NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 46082	NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)	PSAP, CDH23	Single nucleotide variant (synonymous variant)	Atypical Gaucher Disease +7 more	GBenign/Likely benign
Select item 368908	NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)	CDH23, PSAP (R3328H +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +7 more	GConflicting classifications of pathogenicity
Select item 178317	NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)	PSAP, CDH23	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa-deafness syndrome +10 more	GConflicting classifications of pathogenicity
Select item 300488	NM_022124.6(CDH23):c.*204A>G	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Metachromatic leukodystrophy +8 more	GBenign/Likely benign
Select item 300489	NM_022124.6(CDH23):c.*349A>G	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +8 more	GBenign/Likely benign
Select item 300490	NM_022124.6(CDH23):c.*361C>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1D +8 more	GConflicting classifications of pathogenicity
Select item 300493	NM_022124.6(CDH23):c.*510G>A	CDH23, PSAP	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1D +8 more	GBenign/Likely benign
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 300500	NM_002778.4(PSAP):c.*775G>A	PSAP	Single nucleotide variant (3 prime UTR variant)	Combined PSAP deficiency +4 more	GBenign
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 1723499	NM_002778.4(PSAP):c.1546G>A (p.Glu516Lys)	PSAP (E516K +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +1 more	GUncertain significance
Select item 258811	NM_002778.4(PSAP):c.1540-34C>T	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1229512	NM_002778.4(PSAP):c.1540-272del	PSAP	Deletion (intron variant)	not provided	GBenign
Select item 1229742	NM_002778.4(PSAP):c.1540-319G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263216	NM_002778.4(PSAP):c.1539+235dup	PSAP	Duplication (intron variant)	not provided	GBenign
Select item 1235096	NM_002778.4(PSAP):c.1539+222A>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253477	NM_002778.4(PSAP):c.1539+215T>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 300509	NM_002778.4(PSAP):c.1452G>A (p.Ser484=)	PSAP	Single nucleotide variant (synonymous variant)	Krabbe disease due to saposin A deficiency +4 more	GBenign
Select item 559099	NM_002778.4(PSAP):c.1432-22C>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +3 more	GBenign
Select item 1279298	NM_002778.4(PSAP):c.1432-147G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180584	NM_002778.4(PSAP):c.1431+116C>T	PSAP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 680725	NM_002778.4(PSAP):c.1431+78_1431+83del	PSAP	Deletion (intron variant)	not provided	GBenign
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 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 1227307	NM_002778.4(PSAP):c.1351-26A>G	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258809	NM_002778.4(PSAP):c.1350+5G>A	PSAP, CDH23	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +10 more	GBenign/Likely benign
Select item 452840	NM_002778.4(PSAP):c.1316del (p.Gly439fs)	PSAP (G439fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 578184	NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe)	PSAP (I435F +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 559100	NM_002778.4(PSAP):c.1006-21C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203915	NM_002778.4(PSAP):c.1006-130T>A	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194027	NM_002778.4(PSAP):c.1006-130T>C	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242054	NM_002778.4(PSAP):c.1005+129G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191721	NM_002778.4(PSAP):c.1005+44C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 94084	NM_002778.4(PSAP):c.1005+18C>T	PSAP	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1706888	NM_002778.4(PSAP):c.910-183G>T	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258812	NM_002778.4(PSAP):c.909+32G>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +4 more	GBenign
Select item 1303415	NM_002778.4(PSAP):c.835A>G (p.Met279Val)	PSAP (M279V +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +1 more	GUncertain significance
Select item 1243809	NM_002778.4(PSAP):c.778-123del	PSAP	Deletion (intron variant)	not provided	GBenign
Select item 1290581	NM_002778.4(PSAP):c.778-270C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680724	NM_002778.4(PSAP):c.778-1756C>G	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263294	NM_002778.4(PSAP):c.778-1822dup	PSAP	Duplication (intron variant)	not provided	GBenign
Select item 680723	NM_002778.4(PSAP):c.777+1645del	PSAP	Deletion (intron variant)	not provided	GBenign
Select item 1230665	NM_002778.4(PSAP):c.777+256_777+269del	PSAP	Deletion (intron variant)	not provided	GBenign
Select item 1290661	NM_002778.4(PSAP):c.777+68T>C	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2052396	NM_002778.4(PSAP):c.769A>T (p.Met257Leu)	PSAP (M257L)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +1 more	GUncertain significance
Select item 1221915	NM_002778.4(PSAP):c.721-287C>G	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267148	NM_002778.4(PSAP):c.720+270dup	PSAP	Duplication (intron variant)	not provided	GBenign
Select item 1193426	NM_002778.4(PSAP):c.720+287del	PSAP	Deletion (intron variant)	not provided	GLikely benign
Select item 2200918	NM_002778.4(PSAP):c.718A>G (p.Ile240Val)	PSAP (I240V)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +2 more	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 +2 more	GPathogenic/Likely pathogenic
Select item 445595	NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)	PSAP (I208S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489144	NM_002778.4(PSAP):c.607C>T (p.Gln203Ter)	PSAP (Q203*)	Single nucleotide variant (nonsense)	Sphingolipid activator protein 1 deficiency +1 more	GPathogenic
Select item 1280873	NM_002778.4(PSAP):c.577-56G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283957	NM_002778.4(PSAP):c.577-279C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187939	NM_002778.4(PSAP):c.576+213_576+214del	PSAP	Deletion (intron variant)	not provided	GLikely benign
Select item 1216914	NM_002778.4(PSAP):c.576+160G>C	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 418428	NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	PSAP (L137V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1264827	NM_002778.4(PSAP):c.375+226G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181249	NM_002778.4(PSAP):c.375+208G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680721	NM_002778.4(PSAP):c.250-141A>G	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191124	NM_002778.4(PSAP):c.249+192T>C	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252398	NM_002778.4(PSAP):c.249+73C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190596	NM_002778.4(PSAP):c.249+37G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 300531	NM_002778.4(PSAP):c.189C>T (p.Cys63=)	PSAP	Single nucleotide variant (synonymous variant)	Combined PSAP deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1219507	NM_002778.4(PSAP):c.175-83C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293917	NM_002778.4(PSAP):c.175-102C>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282594	NM_002778.4(PSAP):c.175-117C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274703	NM_002778.4(PSAP):c.175-140A>C	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280464	NM_002778.4(PSAP):c.175-152C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227545	NM_002778.4(PSAP):c.174+301C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680720	NM_002778.4(PSAP):c.174+216T>C	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228594	NM_002778.4(PSAP):c.174+164C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1032846	NM_002778.4(PSAP):c.113C>T (p.Thr38Met)	PSAP (T38M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1242338	NM_002778.4(PSAP):c.41-53C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193651	NM_002778.4(PSAP):c.41-56G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236120	NM_002778.4(PSAP):c.41-96G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680719	NM_002778.4(PSAP):c.41-237C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226948	NM_002778.4(PSAP):c.41-252A>G	PSAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219130	NM_002778.4(PSAP):c.40+200G>A	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219369	NM_002778.4(PSAP):c.40+145CTTTCTCTGG[3]	PSAP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1032847	NM_002778.4(PSAP):c.11T>C (p.Leu4Pro)	PSAP (L4P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 258806	NM_002778.4(PSAP):c.-4C>T	PSAP	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign
Select item 3363989	NM_002778.4(PSAP):c.-7C>T	PSAP	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 300546	NM_002778.3(PSAP):c.-65C>T	PSAP	Single nucleotide variant	not provided +4 more	GBenign/Likely benign
Select item 1180557	NM_001042465.2(PSAP):c.-130T>C	PSAP	Single nucleotide variant	not provided +3 more	GBenign/Likely benign

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Items: 100